Gareth Evans
#80,567
Most Influential Person Now
Medical geneticist
Gareth Evans 's AcademicInfluence.com Rankings
Gareth Evans biology Degrees
Biology
#4135
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#6212
Historical Rank
Genetics
#323
World Rank
#379
Historical Rank
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Biology
Gareth Evans 's Degrees
- Doctorate Medical Genetics Stanford University
Why Is Gareth Evans Influential?
(Suggest an Edit or Addition)According to Wikipedia, Professor D. Gareth R. Evans FLSW is a British medical geneticist. Evans trained at St Mary's Hospital Medical School, specialising in paediatrics in the Army. He then switched to genetics at Saint Mary's Hospital, Manchester.
Gareth Evans 's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. (2003) (3543)
- Genome-wide association study identifies novel breast cancer susceptibility loci (2007) (2351)
- Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers (2017) (1644)
- Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. (2002) (1469)
- Guidelines for colorectal cancer screening and surveillance in moderate and high risk groups (update from 2002) (2010) (1094)
- Screening with magnetic resonance imaging and mammography of a UK population at high familial risk of breast cancer: a prospective multicentre cohort study (MARIBS) (2005) (1061)
- Malignant peripheral nerve sheath tumours in neurofibromatosis 1 (2002) (1021)
- Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. (2010) (1008)
- PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene (2007) (1005)
- Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. (2004) (865)
- Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations (2002) (860)
- Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial (2011) (826)
- Guidelines for the diagnosis and management of individuals with neurofibromatosis 1 (2006) (806)
- Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. (2013) (802)
- Gene-panel sequencing and the prediction of breast-cancer risk. (2015) (747)
- Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles (2006) (733)
- ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles (2006) (728)
- Genome-wide association study identifies five new breast cancer susceptibility loci (2010) (716)
- Birth incidence and prevalence of tumor‐prone syndromes: Estimates from a UK family genetic register service (2010) (699)
- Identification of the familial cylindromatosis tumour-suppressor gene (2000) (683)
- Prediction of BRCA1 Status in Patients with Breast Cancer Using Estrogen Receptor and Basal Phenotype (2005) (667)
- Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer. (2013) (619)
- A clinical study of type 2 neurofibromatosis. (1992) (606)
- Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls (2010) (600)
- Oral Contraceptives and the Risk of Hereditary Ovarian Cancer (1998) (597)
- The effects of intermittent or continuous energy restriction on weight loss and metabolic disease risk markers: a randomized trial in young overweight women (2011) (581)
- A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3 (2008) (578)
- Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes (2018) (559)
- Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer. (2012) (544)
- Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer (2013) (534)
- Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study. (2008) (527)
- Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. (1993) (520)
- Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2 (2009) (502)
- Germline mutations in RAD51D confer susceptibility to ovarian cancer (2011) (493)
- Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype–phenotype correlation (1995) (490)
- Genome-wide association study of copy number variation in 16,000 cases of eight common diseases and 3,000 shared controls (2010) (465)
- Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH (2003) (463)
- Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) (2011) (447)
- Assessing women at high risk of breast cancer: a review of risk assessment models. (2010) (444)
- Allele losses in the region 17q12–21 in familial breast and ovarian cancer involve the wild–type chromosome (1992) (436)
- A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity. (1992) (429)
- Neurofibromatosis type 2 (NF2): A clinical and molecular review (2009) (414)
- Effect of short-term hormone replacement therapy on breast cancer risk reduction after bilateral prophylactic oophorectomy in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. (2005) (412)
- Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk (2013) (405)
- The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions (2008) (403)
- Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33 (2010) (391)
- Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. (2015) (390)
- Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database (2015) (389)
- Critical research gaps and translational priorities for the successful prevention and treatment of breast cancer (2013) (377)
- Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. (2002) (369)
- Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database (2017) (365)
- Li-Fraumeni syndrome--a molecular and clinical review. (1997) (361)
- A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general population (2010) (357)
- Diagnostic criteria for schwannomatosis (2005) (354)
- Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer. (1999) (337)
- Tumor risks and genotype–phenotype–proteotype analysis in 358 patients with germline mutations in SDHB and SDHD (2010) (333)
- Incidence of Vestibular Schwannoma and Neurofibromatosis 2 in the North West of England over a 10-year Period: Higher Incidence than Previously Thought (2005) (330)
- Mortality after bilateral salpingo-oophorectomy in BRCA1 and BRCA2 mutation carriers: a prospective cohort study. (2006) (328)
- An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. (2007) (326)
- Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. (2020) (322)
- The effect of intermittent energy and carbohydrate restriction v. daily energy restriction on weight loss and metabolic disease risk markers in overweight women. (2013) (317)
- Evaluation of breast cancer risk assessment packages in the family history evaluation and screening programme (2003) (304)
- Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome (2017) (302)
- The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma. (1991) (301)
- Risk determination and prevention of breast cancer (2014) (299)
- Second primary tumors in neurofibromatosis 1 patients treated for optic glioma: substantial risks after radiotherapy. (2006) (298)
- Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations (2009) (291)
- Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families. (1997) (281)
- Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database (2019) (280)
- The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services (2014) (279)
- Effect of BRCA Mutations on Metastatic Relapse and Cause-specific Survival After Radical Treatment for Localised Prostate Cancer. (2015) (276)
- Risk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutations (2012) (270)
- Malignant transformation and new primary tumours after therapeutic radiation for benign disease: substantial risks in certain tumour prone syndromes (2005) (264)
- A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO (2004) (261)
- Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study (2018) (256)
- Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors. (1999) (256)
- Germline SDHD mutation in familial phaeochromocytoma (2001) (250)
- Whole-genome sequencing of patients with rare diseases in a national health system (2020) (239)
- Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. (2008) (238)
- A genetic register for von Hippel-Lindau disease. (1996) (226)
- Pregnancies, breast-feeding, and breast cancer risk in the International BRCA1/2 Carrier Cohort Study (IBCCS). (2006) (224)
- Targeted Prostate Cancer Screening in BRCA1 and BRCA2 Mutation Carriers: Results from the Initial Screening Round of the IMPACT Study (2014) (222)
- Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening (2007) (219)
- Penetrance estimates for BRCA1 and BRCA2 based on genetic testing in a Clinical Cancer Genetics service setting: Risks of breast/ovarian cancer quoted should reflect the cancer burden in the family (2008) (217)
- Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK) (2012) (214)
- Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer (2012) (213)
- Cancer phenotype correlates with constitutional TP53 genotype in families with the Li–Fraumeni syndrome (1998) (211)
- Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations. (2014) (211)
- Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations (2018) (206)
- Heritability of cellular radiosensitivity: a marker of low-penetrance predisposition genes in breast cancer? (1999) (205)
- Prediction of pathogenic mutations in patients with early-onset breast cancer by family history (2003) (204)
- Evaluation of clinical diagnostic criteria for neurofibromatosis 2 (2002) (203)
- Effect of chest X-rays on the risk of breast cancer among BRCA1/2 mutation carriers in the international BRCA1/2 carrier cohort study: a report from the EMBRACE, GENEPSO, GEO-HEBON, and IBCCS Collaborators' Group. (2006) (199)
- Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families. (2019) (196)
- Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations. (1998) (196)
- Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction. (2010) (196)
- Predictors of the risk of mortality in neurofibromatosis 2. (2002) (195)
- A clinical study of type 1 neurofibromatosis in north west England (1999) (194)
- Psychosocial impact of breast/ovarian (BRCA1/2) cancer-predictive genetic testing in a UK multi-centre clinical cohort (2004) (192)
- Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas (2013) (192)
- A Randomized Placebo-Controlled Prevention Trial of Aspirin and/or Resistant Starch in Young People with Familial Adenomatous Polyposis (2011) (191)
- Perception of risk in women with a family history of breast cancer. (1993) (187)
- Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring system using data from UK genetics clinics (2008) (186)
- The impact of genetic counselling on risk perception in women with a family history of breast cancer. (1994) (185)
- Identification of Novel Genetic Markers of Breast Cancer Survival (2015) (185)
- Cancer risk in Lynch Syndrome (2013) (178)
- Interplay between BRCA1 and RHAMM Regulates Epithelial Apicobasal Polarization and May Influence Risk of Breast Cancer (2011) (174)
- Frequent hSNF5/INI1 Germline Mutations in Patients with Rhabdoid Tumor (2011) (174)
- High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH. (2001) (174)
- Interplay between BRCA1 and RHAMM Regulates Epithelial Apicobasal Polarization and May Influence Risk of Breast Cancer (2011) (174)
- Paediatric presentation of type 2 neurofibromatosis (1999) (173)
- Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome. (2008) (172)
- A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling. (1992) (172)
- Bilateral Oophorectomy and Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers (2017) (171)
- Oral contraceptives and the risk of hereditary ovarian cancer. Hereditary Ovarian Cancer Clinical Study Group. (1998) (171)
- BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives. (2006) (168)
- Screening for familial ovarian cancer: failure of current protocols to detect ovarian cancer at an early stage according to the international Federation of gynecology and obstetrics system. (2005) (165)
- Autism and other psychiatric comorbidity in neurofibromatosis type 1: evidence from a population‐based study (2013) (159)
- Germline RAD51C mutations confer susceptibility to ovarian cancer (2012) (158)
- Mammographic density adds accuracy to both the Tyrer-Cuzick and Gail breast cancer risk models in a prospective UK screening cohort (2015) (156)
- Neurofibromatosis Type 1 and Autism Spectrum Disorder (2013) (154)
- Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer (2010) (154)
- Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria (2013) (153)
- Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies (2005) (149)
- Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation (2021) (148)
- Psychological support needs for women at high genetic risk of breast cancer: some preliminary indicators (1998) (146)
- A genome wide linkage search for breast cancer susceptibility genes (2006) (146)
- Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility. (2003) (146)
- Contralateral mastectomy improves survival in women with BRCA1/2-associated breast cancer (2013) (145)
- Reproductive and Hormonal Factors, and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers: Results from the International BRCA1/2 Carrier Cohort Study (2009) (143)
- Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores (2017) (142)
- Screening for familial ovarian cancer: poor survival of BRCA1/2 related cancers (2008) (142)
- Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, placebo-controlled trial (2020) (141)
- Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging: A Meta-analysis (2017) (139)
- Mammographic density and breast cancer risk in BRCA1 and BRCA2 mutation carriers. (2006) (138)
- Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification (2007) (138)
- Uptake of Risk-Reducing Surgery in Unaffected Women at High Risk of Breast and Ovarian Cancer Is Risk, Age, and Time Dependent (2009) (138)
- Germline mutation of ARF in a melanoma kindred. (2002) (136)
- Results of annual screening in phase I of the United Kingdom familial ovarian cancer screening study highlight the need for strict adherence to screening schedule. (2013) (135)
- Neuroimaging manifestations in children with SARS-CoV-2 infection: a multinational, multicentre collaborative study (2020) (135)
- Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation. (1996) (135)
- Increasing the specificity of diagnostic criteria for schwannomatosis (2006) (134)
- Prostate cancer in BRCA2 germline mutation carriers is associated with poorer prognosis (2010) (133)
- Loss of SUFU function in familial multiple meningioma. (2012) (130)
- Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. (2012) (129)
- Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers (2019) (129)
- Life expectancy in hereditary cancer predisposing diseases: an observational study (2012) (128)
- Cost-effectiveness of screening with contrast enhanced magnetic resonance imaging vs X-ray mammography of women at a high familial risk of breast cancer (2006) (127)
- Breast cancer risk-assessment models (2007) (126)
- Somatic mosaicism: a common cause of classic disease in tumor-prone syndromes? Lessons from type 2 neurofibromatosis. (1998) (124)
- Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. (2009) (124)
- Impaired Tamoxifen Metabolism Reduces Survival in Familial Breast Cancer Patients (2008) (123)
- Guidelines for a genetic risk based approach to advising women with a family history of breast cancer (2000) (123)
- Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 (2017) (123)
- The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome (2019) (122)
- Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-based study. (2004) (121)
- Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk (2013) (120)
- Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening (2006) (120)
- Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database (2016) (120)
- Survival in prospectively ascertained familial breast cancer: Analysis of a series stratified by tumour characteristics, BRCA mutations and oophorectomy (2002) (119)
- Risk perception and cancer worry: an exploratory study of the impact of genetic risk counselling in women with a family history of breast cancer (2001) (119)
- Evidence of Stage Shift in Women Diagnosed With Ovarian Cancer During Phase II of the United Kingdom Familial Ovarian Cancer Screening Study (2017) (119)
- Personalized early detection and prevention of breast cancer: ENVISION consensus statement (2020) (117)
- Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. (2009) (117)
- Cancer risk and genotype–phenotype correlations in PTEN hamartoma tumor syndrome (2014) (116)
- The proportion of endometrial cancers associated with Lynch syndrome: a systematic review of the literature and meta-analysis (2019) (116)
- Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring (2003) (116)
- Mortality in neurofibromatosis 1: in North West England: an assessment of actuarial survival in a region of the UK since 1989 (2013) (115)
- Neurofibromatosis 2 [Bilateral acoustic neurofibromatosis, central neurofibromatosis, NF2, neurofibromatosis type II] (2009) (115)
- The accuracy of diagnoses as reported in families with cancer: a retrospective study (1999) (115)
- The gene for the naevoid basal cell carcinoma syndrome acts as a tumour-suppressor gene in medulloblastoma. (1997) (115)
- EANO Guideline on the Diagnosis and Treatment of Vestibular Schwannoma. (2019) (115)
- Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome (2017) (114)
- Current policies for surveillance and management in women at risk of breast and ovarian cancer: a survey among 16 European family cancer clinics. European Familial Breast Cancer Collaborative Group. (1998) (113)
- Neurofibromatosis 2, radiosurgery and malignant nervous system tumours (2000) (113)
- DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers (2014) (112)
- The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions (2008) (112)
- A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer (1999) (111)
- The MDM2 promoter SNP285C/309G haplotype diminishes Sp1 transcription factor binding and reduces risk for breast and ovarian cancer in Caucasians. (2011) (111)
- A detailed study of loss of heterozygosity on chromosome 17 in tumours from Li – Fraumeni patients carrying a mutation to the TP53 gene (1997) (110)
- Magnetic resonance imaging screening in women at genetic risk of breast cancer: imaging and analysis protocol for the UK multicentre study (2000) (110)
- Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses (2019) (110)
- Basal Cell Carcinomas in Gorlin Syndrome: A Review of 202 Patients (2010) (110)
- Mortality in neurofibromatosis 1: in North West England: an assessment of actuarial survival in a region of the UK since 1989 (2011) (109)
- Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 1 (2017) (108)
- Systematic review of the impact of registration and screening on colorectal cancer incidence and mortality in familial adenomatous polyposis and Lynch syndrome (2013) (108)
- Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study☆ (2020) (106)
- Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium (2002) (106)
- Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes (2020) (106)
- Neurofibromatosis type 1 and sporadic optic gliomas (2002) (106)
- Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes (2020) (106)
- Germline and somatic NF1 gene mutation spectrum in NF1‐associated malignant peripheral nerve sheath tumors (MPNSTs) (2008) (105)
- Consensus recommendations for current treatments and accelerating clinical trials for patients with neurofibromatosis type 2 (2012) (105)
- Assessing Individual Breast Cancer Risk within the U.K. National Health Service Breast Screening Program: A New Paradigm for Cancer Prevention (2012) (104)
- Targeted prostate cancer screening in men with mutations in BRCA1 and BRCA2 detects aggressive prostate cancer: preliminary analysis of the results of the IMPACT study (2011) (104)
- Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancer (2002) (104)
- Association of Mismatch Repair Mutation With Age at Cancer Onset in Lynch Syndrome (2017) (103)
- Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility (2003) (103)
- Refined histopathological predictors of BRCA1 and BRCA2mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia (2014) (103)
- Familial Breast Cancer (2012) (102)
- A novel HER2-positive breast cancer phenotype arising from germline TP53 mutations (2010) (102)
- Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis (2012) (101)
- Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (2011) (101)
- Comprehensive CYP2D6 genotype and adherence affect outcome in breast cancer patients treated with tamoxifen monotherapy (2010) (101)
- Risk of breast cancer in male BRCA2 carriers (2010) (100)
- Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas (2014) (99)
- Colorectal cancer in HNPCC: cumulative lifetime incidence, survival and tumour distribution. A report of 121 families with proven mutations (2008) (98)
- BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years (2012) (98)
- Mononucleotide microsatellite instability and germlineMSH6 mutation analysis in early onset colorectal cancer (1999) (97)
- The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2 (2005) (97)
- Surveillance for familial breast cancer: Differences in outcome according to BRCA mutation status (2007) (96)
- Recommendations for imaging tumor response in neurofibromatosis clinical trials (2013) (96)
- Fortnightly Review: Familial breast cancer (1994) (96)
- Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 2 and Related Disorders (2017) (95)
- Improvement in risk prediction, early detection and prevention of breast cancer in the NHS Breast Screening Programme and family history clinics: a dual cohort study (2016) (95)
- A Pilot Study of Compositional Analysis of the Breast and Estimation of Breast Mammographic Density Using Three-Dimensional T1-Weighted Magnetic Resonance Imaging (2008) (94)
- Familial site-specific ovarian cancer is linked to BRCA1 on 17q12-21. (1994) (93)
- Neurofibromatosis type 2 (2000) (93)
- Whole genome sequencing of a sporadic primary immunodeficiency cohort (2018) (92)
- Assessing the usefulness of a novel MRI-based breast density estimation algorithm in a cohort of women at high genetic risk of breast cancer: the UK MARIBS study (2009) (92)
- Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers (2012) (92)
- Malignant peripheral nerve sheath tumours in inherited disease (2012) (91)
- Obesity, Aspirin, and Risk of Colorectal Cancer in Carriers of Hereditary Colorectal Cancer: A Prospective Investigation in the CAPP2 Study. (2015) (91)
- BRCA Carriers, Prophylactic Salpingo-Oophorectomy and Menopause: Clinical Management Considerations and Recommendations (2012) (90)
- Spinal and cutaneous schwannomatosis is a variant form of type 2 neurofibromatosis: a clinical and molecular study. (1997) (90)
- Schwannomatosis: a genetic and epidemiological study (2018) (90)
- Parity and breast cancer risk among BRCA1 and BRCA2 mutation carriers (2006) (90)
- Risk reducing mastectomy: outcomes in 10 European centres (2008) (89)
- The rs10993994 Risk Allele for Prostate Cancer Results in Clinically Relevant Changes in Microseminoprotein-Beta Expression in Tissue and Urine (2010) (89)
- An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53. (1995) (88)
- Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium. (2012) (87)
- Recurrent germline mutation in MSH2arises frequently de novo (2000) (86)
- Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis (2015) (86)
- Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis (2017) (86)
- Uptake of genetic testing for cancer predisposition. (1997) (86)
- Longer term effects of the Angelina Jolie effect: increased risk-reducing mastectomy rates in BRCA carriers and other high-risk women (2015) (86)
- Women's attitudes toward preventive strategies for hereditary breast or ovarian carcinoma differ from one country to another (2001) (86)
- Predictive testing for BRCA1/2: attributes, risk perception and management in a multi-centre clinical cohort (2002) (86)
- Addition of pathology and biomarker information significantly improves the performance of the Manchester scoring system for BRCA1 and BRCA2 testing (2009) (86)
- Incidence of hereditary non‐polyposis colorectal cancer in a population‐based study of 1137 consecutive cases of colorectal cancer (1997) (86)
- Use of Single-Nucleotide Polymorphisms and Mammographic Density Plus Classic Risk Factors for Breast Cancer Risk Prediction (2018) (86)
- Further genotype – phenotype correlations in neurofibromatosis 2 (2009) (85)
- Prevalence of BRCA1 and BRCA2 mutations in triple negative breast cancer (2011) (85)
- Rates of loss of heterozygosity and mitotic recombination in NF2 schwannomas, sporadic vestibular schwannomas and schwannomatosis schwannomas (2010) (85)
- Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: clear positional effect of mutations, but absence of female severity effect on age at onset (2011) (85)
- The Fragile X Protein binds mRNAs involved in cancer progression and modulates metastasis formation (2013) (84)
- Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2 (2016) (84)
- Update on the Manchester Scoring System for BRCA1 and BRCA2 testing (2005) (84)
- Predictive genetic testing for BRCA1/2 in a UK clinical cohort: three-year follow-up (2007) (84)
- Endometrial cancer and venous thromboembolism in women under age 50 who take tamoxifen for prevention of breast cancer: a systematic review. (2012) (83)
- Bilateral prophylactic oophorectomy and bilateral prophylactic mastectomy in a prospective cohort of unaffected BRCA1 and BRCA2 mutation carriers. (2007) (83)
- Use of anastrozole for breast cancer prevention (IBIS-II): long-term results of a randomised controlled trial (2019) (83)
- Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification (2019) (82)
- A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype–phenotype correlations (2011) (82)
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- Association of the Variants CASP8 D302H and CASP10 V410I with Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers (2010) (53)
- Osteoprotegerin (OPG), The Endogenous Inhibitor of Receptor Activator of NF-κB Ligand (RANKL), is Dysregulated in BRCA Mutation Carriers (2015) (53)
- Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12–q13 (2000) (53)
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- Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing (2019) (48)
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- Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study (2012) (31)
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- Clinical presentation, immunohistochemistry and electron microscopy indicate neurofibromatosis type 2‐associated gliomas to be spinal ependymomas (2012) (28)
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- Outcomes of cochlear implantation in patients with neurofibromatosis type 2 (2016) (24)
- Auditory Brainstem Implantation in Neurofibromatosis Type 2: Experience From the Manchester Programme (2016) (24)
- A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study (2021) (24)
- Preferences for breast cancer risk reduction among BRCA1/BRCA2 mutation carriers: a discrete-choice experiment (2017) (24)
- The response of spinal cord ependymomas to bevacizumab in patients with neurofibromatosis Type 2. (2017) (24)
- Women's decision-making regarding risk-stratified breast cancer screening and prevention from the perspective of international healthcare professionals (2018) (24)
- The genetic interplay between body mass index, breast size and breast cancer risk: a Mendelian randomization analysis (2019) (24)
- White Blood Cell BRCA1 Promoter Methylation Status and Ovarian Cancer Risk (2018) (24)
- Nevoid basal cell carcinoma syndrome (2015) (24)
- Differential diagnosis of type 2 neurofibromatosis: molecular discrimination of NF2 and sporadic vestibular schwannomas. (1998) (24)
- Ovarian cancer among 8005 women from a breast cancer family history clinic: no increased risk of invasive ovarian cancer in families testing negative for BRCA1 and BRCA2 (2013) (24)
- A pooled analysis of the outcome of prospective colonoscopic surveillance for familial colorectal cancer (2014) (24)
- Improving the uptake of predictive testing and colorectal screening in Lynch syndrome: a regional primary care survey (2015) (23)
- Are BRCA1- and BRCA2-related breast cancers associated with increased mortality? (2003) (23)
- Uptake of risk-reducing salpingo-oophorectomy in women carrying a BRCA1 or BRCA2 mutation: evidence for lower uptake in women affected by breast cancer and older women (2011) (23)
- Variation of expression of the gene for type 2 neurofibromatosis: absence of a gender effect on vestibular schwannomas, but confirmation of a preponderance of meningiomas in females (1995) (23)
- Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing (2016) (23)
- SMARCE1 mutations in pediatric clear cell meningioma: case report. (2015) (23)
- An update on age related mosaic and offspring risk in neurofibromatosis 2 (NF2) (2009) (23)
- The Influence of Number and Timing of Pregnancies on Breast Cancer Risk for Women With BRCA1 or BRCA2 Mutations (2018) (23)
- Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers (2012) (23)
- Diagnosis of sporadic neurofibromatosis type 2 in the paediatric population (2018) (22)
- Germline and sporadic cancers driven by the RAS pathway: parallels and contrasts (2020) (22)
- Prevalence of germline pathogenic BRCA1/2 variants in sequential epithelial ovarian cancer cases (2019) (22)
- Neurofibromatosis type 2. (2015) (22)
- Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report (2019) (22)
- Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation (2018) (22)
- Optimal age to start preventive measures in women with BRCA1/2 mutations or high familial breast cancer risk (2013) (22)
- Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD) (2017) (22)
- High-resolution array-CGH profiling of germline and tumor-specific copy number alterations on chromosome 22 in patients affected with schwannomas (2005) (22)
- Family history of breast cancer (2005) (22)
- A Nonsynonymous Polymorphism in IRS1 Modifies Risk of Developing Breast and Ovarian Cancers in BRCA1 and Ovarian Cancer in BRCA2 Mutation Carriers (2012) (22)
- Association between genetic polymorphisms and endometrial cancer risk: a systematic review (2020) (22)
- Cost-effectiveness analysis of reflex testing for Lynch syndrome in women with endometrial cancer in the UK setting (2019) (22)
- Neurofibromatosis 2 (NF2) and Malignant Mesothelioma in a Man with a Constitutional NF2 Missense Mutation (2005) (21)
- Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study (2019) (21)
- Fictitious breast cancer family history (1996) (21)
- Physical localisation of the breakpoints of a constitutional translocation t(5;6)(q21;q21) in a child with bilateral Wilms' tumour. (1997) (21)
- Malignant Peripheral Nerve Sheath Tumors are not a Feature of Neurofibromatosis Type 2 in the Unirradiated Patient (2018) (21)
- Exploring the link between MORF4L1 and risk of breast cancer (2011) (21)
- Genetic testing in a cohort of young patients with HER2-amplified breast cancer. (2016) (21)
- Long-term prospective clinical follow-up after BRCA1/2 presymptomatic testing: BRCA2 risks higher than in adjusted retrospective studies (2014) (21)
- Outcome from surgery for vestibular schwannomas in children (2009) (21)
- Contralateral Risk-Reducing Mastectomy: Review of Risk Factors and Risk-Reducing Strategies (2015) (21)
- Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study. (2021) (21)
- Cancer genetics clinics. (1996) (21)
- Better Life Expectancy in Women with BRCA2 Compared with BRCA1 Mutations Is Attributable to Lower Frequency and Later Onset of Ovarian Cancer (2008) (20)
- Breast cancer risk assessment in 8,824 women attending a family history evaluation and screening programme (2014) (20)
- The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer (2019) (20)
- Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3 (2016) (20)
- Systematic review of the empirical investigation of resources to support decision-making regarding BRCA1 and BRCA2 genetic testing in women with breast cancer. (2017) (20)
- Uptake of breast cancer prevention and screening trials (2010) (20)
- Cancer risk communication, predictive testing and management in France, Germany, the Netherlands and the UK: general practitioners' and breast surgeons' current practice and preferred practice responsibilities (2013) (20)
- RASSF1A polymorphism in familial breast cancer (2010) (20)
- Breast cancer risk status influences uptake, retention and efficacy of a weight loss programme amongst breast cancer screening attendees: two randomised controlled feasibility trials (2019) (20)
- Mainstreaming germline BRCA1/2 testing in non-mucinous epithelial ovarian cancer in the North West of England (2020) (20)
- NF1 optic pathway glioma: analyzing risk factors for visual outcome and indications to treat (2020) (20)
- Is hormone replacement therapy (HRT) following risk-reducing salpingo-oophorectomy (RRSO) in BRCA1 (B1)- and BRCA2 (B2)-mutation carriers associated with an increased risk of breast cancer? (2011) (20)
- Neurofibromatosis type 2 service delivery in England. (2016) (20)
- High-resolution profiling of an 11 Mb segment of human chromosome 22 in sporadic schwannoma using array-CGH. (2003) (20)
- Neurofibromatoses in Clinical Practice (2011) (20)
- Management of women at high risk of breast cancer (2014) (20)
- BRCA2: a cause of Li–Fraumeni-like syndrome (2007) (20)
- European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender. (2021) (20)
- Breast cancer in patients with germline TP53 pathogenic variants have typical tumour characteristics: the Cohort study of TP53 carrier early onset breast cancer (COPE study) (2019) (20)
- Spinal ependymomas in NF2: a surgical disease? (2018) (19)
- A comparative study of quantitative immunohistochemistry and quantum dot immunohistochemistry for mutation carrier identification in Lynch syndrome (2010) (19)
- The introduction of risk stratified screening into the NHS breast screening Programme: views from British-Pakistani women (2020) (19)
- Prospective evaluation of a breast-cancer risk model integrating classical risk factors and polygenic risk in 15 cohorts from six countries. (2021) (19)
- Risk stratified breast cancer screening: UK healthcare policy decision-making stakeholders’ views on a low-risk breast screening pathway (2020) (19)
- Strategies for identifying hereditary nonpolyposis colon cancer. (2007) (19)
- BRCA1 and BRCA2 pathogenic variant carriers and endometrial cancer risk: A cohort study (2020) (19)
- Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers (2011) (19)
- Risk of Contralateral Breast Cancer in Women with and without Pathogenic Variants in BRCA1, BRCA2, and TP53 Genes in Women with Very Early-Onset (<36 Years) Breast Cancer (2020) (19)
- Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network (2020) (19)
- Haplotype and cancer risk analysis of two common mutations, BRCA1 4184del4 and BRCA2 2157delG, in high risk northwest England breast/ovarian families (2004) (18)
- Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study (2021) (18)
- Psychological impact and acceptability of magnetic resonance imaging and X-ray mammography: the MARIBS Study (2011) (18)
- Trends in phenotype in the English paediatric neurofibromatosis type 2 cohort stratified by genetic severity (2019) (18)
- Sensitivity of BRCA1/2 mutation testing in 466 breast/ovarian cancer families (2003) (18)
- Urgent improvements needed to diagnose and manage Lynch syndrome (2017) (18)
- Delivering cancer genetics services-new ways of working (2007) (18)
- Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study (2021) (18)
- A clinical and genetic analysis of multiple primary cancer referrals to genetics services (2014) (18)
- A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms' tumour is not a mutation carrier. (1998) (18)
- Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report (2020) (18)
- Low prevalence of germlineBRCA1 mutations in early onset breast cancer without a family history (2000) (18)
- Beliefs About Medication and Uptake of Preventive Therapy in Women at Increased Risk of Breast Cancer: Results From a Multicenter Prospective Study (2019) (17)
- Predictors of long-term cancer-related distress among female BRCA1 and BRCA2 mutation carriers without a cancer diagnosis: an international analysis (2020) (17)
- Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer (2010) (17)
- Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study. (2018) (17)
- Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study (2018) (17)
- Pathogenesis of vestibular schwannoma in ring chromosome 22 (2009) (17)
- A novel deletion within exon 6 of TP53 in a family with Li-Fraumeni-like syndrome, and LOH in a benign lesion from a mutation carrier. (1996) (17)
- Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition (2018) (17)
- Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation. (2022) (17)
- Predictors of weight gain in a cohort of premenopausal early breast cancer patients receiving chemotherapy. (2019) (17)
- Correspondence re: A. Rothfuss et al., Induced micronucleus frequencies in peripheral blood lymphocytes as a screening test for carriers of a BRCA1 mutation in breast cancer families. Cancer Res., 60: 390-394, 2000. (2001) (17)
- Management of Hereditary Breast Cancer (2002) (17)
- Global Disparities in Breast Cancer Genetics Testing, Counselling and Management (2019) (17)
- High detection rate for BRCA2 mutations in male breast cancer families from North West England (2004) (17)
- Alcohol Consumption, Cigarette Smoking, and Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Results from The BRCA1 and BRCA2 Cohort Consortium (2019) (17)
- Personalized prevention in high risk individuals: Managing hormones and beyond. (2018) (17)
- Can hair be used to screen for breast cancer? (2000) (16)
- Common Genetic Variation at BARD1 Is Not Associated with Breast Cancer Risk in BRCA1 or BRCA2 Mutation Carriers (2011) (16)
- Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2mutation carriers (2012) (16)
- European women’s perceptions of the implementation and organisation of risk-based breast cancer screening and prevention: a qualitative study (2020) (16)
- Genotype-phenotype correlations for cataracts in neurofibromatosis 2 (2003) (16)
- A clinical, genetic and audiological study of patients and families with unilateral vestibular schwannomas. I. Clinical features of neurofibromatosis in patients with unilateral vestibular schwannomas (1996) (16)
- Breast cancer risk in a screening cohort of Asian and white British/Irish women from Manchester UK (2018) (16)
- Variation in prophylactic surgery decisions (2000) (16)
- The Fragile X Protein binds mRNAs involved in cancer progression and modulates metastasis formation (2014) (16)
- The microenvironment in sporadic and neurofibromatosis type II-related vestibular schwannoma: the same tumor or different? A comparative imaging and neuropathology study. (2020) (16)
- Diagnosed with breast cancer while on a family history screening programme: an exploratory qualitative study. (2008) (16)
- Survival and disease characteristics of de novo versus recurrent metastatic breast cancer in a cohort of young patients (2020) (16)
- UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants (2020) (16)
- Molecular genetic analysis of a family with a history of Hodgkin's disease and dyschondrosteosis. (1995) (16)
- Reduced life expectancy seen in hereditary diseases which predispose to early-onset tumors (2013) (16)
- Current status and recommendations for biomarkers and biobanking in neurofibromatosis (2016) (16)
- Increased Rate of Phenocopies in All Age Groups in BRCA1/BRCA2 Mutation Kindred, but Increased Prospective Breast Cancer Risk Is Confined to BRCA2 Mutation Carriers (2013) (16)
- Preventing Ovarian Cancer through early Excision of Tubes and late Ovarian Removal (PROTECTOR): protocol for a prospective non-randomised multi-center trial (2020) (16)
- Eligibility for Magnetic Resonance Imaging Screening in the United Kingdom: Effect of Strict Selection Criteria and Anonymous DNA Testing on Breast Cancer Incidence in the MARIBS Study (2009) (16)
- Young adulthood body mass index, adult weight gain and breast cancer risk: the PROCAS Study (United Kingdom) (2020) (15)
- Psychosocial effects of whole-body MRI screening in adult high-risk pathogenic TP53 mutation carriers: a case-controlled study (SIGNIFY) (2019) (15)
- Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database (2019) (15)
- The pathology of familial breast cancer: Clinical and genetic counselling implications of breast cancer pathology (1999) (15)
- Lynch syndrome for the gynaecologist (2020) (15)
- Stereotactic radiosurgery XI. Acoustic neuroma therapy and radiation oncogenesis. (2000) (15)
- Current recommendations for cancer surveillance in Gorlin syndrome: a report from the SIOPE host genome working group (SIOPE HGWG) (2021) (15)
- Psychosocial issues of a population approach to high genetic risk identification: Behavioural, emotional and informed choice issues. (2018) (15)
- An evaluation of common breast cancer gene mutations in a population of Ashkenazi Jews. (1998) (15)
- The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families (2013) (15)
- Progress of hearing loss in neurofibromatosis type 2: implications for future management (2015) (15)
- Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers (2019) (15)
- A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers (2021) (15)
- Update on genetic predisposition to breast cancer (2009) (15)
- False-negative MRI breast screening in high-risk women. (2017) (15)
- Engagement barriers and service inequities in the NHS Breast Screening Programme: Views from British-Pakistani women (2019) (15)
- Update from the 2013 international neurofibromatosis conference (2014) (15)
- Breast Cancer Risk Factors and Survival by Tumor Subtype: Pooled Analyses from the Breast Cancer Association Consortium (2021) (14)
- Are we ready for targeted early breast cancer detection strategies in women with NF1 aged 30–49 years? (2012) (14)
- MSH2 sequence variations and inherited colorectal cancer susceptibility. (1996) (14)
- Lynch syndrome screening in gynaecological cancers: results of an international survey with recommendations for uniform reporting terminology for mismatch repair immunohistochemistry results (2019) (14)
- Breast Cancer Risk and 6q22.33: Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2 (2012) (14)
- Breast anatomy and physiology (2009) (14)
- European Breast Cancer Council manifesto 2018: Genetic risk prediction testing in breast cancer. (2019) (14)
- Volumetric and Area-Based Breast Density Measurement in the Predicting Risk of Cancer at Screening (PROCAS) Study (2012) (14)
- Insurance Implications for Individuals with a High Risk of Breast and Ovarian Cancer in Europe (2002) (14)
- Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database (2020) (14)
- Common Genetic Variants and Modification of Penetrance of BRCA 2-Associated Breast Cancer (2010) (14)
- Lymphocyte Telomere Length Is Long in BRCA1 and BRCA2 Mutation Carriers Regardless of Cancer-Affected Status (2014) (14)
- Strategies for endometrial screening in the Lynch syndrome population: a patient acceptability study (2009) (13)
- Hormone replacement therapy and breast cancer. (2011) (13)
- Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2 (2011) (13)
- Adult weight gain and central obesity in women with and without a family history of breast cancer: a case control study (2007) (13)
- Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome (2014) (13)
- Risk reducing salpingectomy and delayed oophorectomy in high risk women: views of cancer geneticists, genetic counsellors and gynaecological oncologists in the UK (2015) (13)
- Disease course of Neurofibromatosis Type 2; a 30-year follow-up study of 353 patients seen at a single institution. (2020) (13)
- The importance of ethnicity: Are breast cancer polygenic risk scores ready for women who are not of White European origin? (2021) (13)
- No evidence that GATA3 rs570613 SNP modifies breast cancer risk (2009) (13)
- A follow-up study of breast and other cancers in families of an unselected series of breast cancer patients (2002) (13)
- Re: Characterization of hereditary nonpolyposis colorectal cancer families from a population-based series of cases. (2001) (12)
- Developing national guidance on genetic testing for breast cancer predisposition: the role of economic evidence? (2012) (12)
- Initial results of a study into the effectiveness of breast cancer screening in a population identified to be at high risk. (2001) (12)
- Erratum: Evidence for a colorectal cancer susceptibility locus on chromosome 3q21 - q24 from a high-density SNP genome-wide linkage scan (Human Molecular Genetics (2006) vol. 15 (2903-2910) 10.1093/hmg/ddl231) (2006) (12)
- Mutation and association analysis of GEN1 in breast cancer susceptibility (2010) (12)
- Molecular genetic tests in surgical management of familial adenomatous polyposis (1998) (12)
- Can multiple SNP testing in BRCA2 and BRCA1 female carriers be used to improve risk prediction models in conjunction with clinical assessment? (2014) (12)
- Sensitive detection of deletions of one or more exons in the neurofibromatosis type 2 (NF2) gene by multiplexed gene dosage polymerase chain reaction. (2005) (12)
- The association between weight at birth and breast cancer risk revisited using Mendelian randomisation (2018) (12)
- Germline TP53 Testing in Breast Cancers: Why, When and How? (2020) (12)
- Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes (2018) (12)
- Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines (2020) (12)
- The prevalence of Lynch syndrome in women with endometrial cancer: a systematic review protocol (2018) (12)
- Management of women with a family history of breast cancer in the North West Region of England: training for implementing a vision of the future (2002) (12)
- In Silico Analysis of NF2 Gene Missense Mutations in Neurofibromatosis Type 2: From Genotype to Phenotype (2015) (12)
- A clinical, genetic and audiological study of patients and families with bilateral acoustic neurofibromatosis (1993) (12)
- Mammographic density change in a cohort of premenopausal women receiving tamoxifen for breast cancer prevention over 5 years (2020) (12)
- Final results of 4-monthly screening in the UK Familial Ovarian Cancer Screening Study (UKFOCSS Phase 2). (2013) (12)
- 30 year experience of index case identification and outcomes of cascade testing in high-risk breast and colorectal cancer predisposition genes (2021) (12)
- Re-evaluating genetic variants identified in candidate gene studies of breast cancer risk using data from nearly 280,000 women of Asian and European ancestry (2019) (12)
- No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study (2021) (11)
- The Angelina Jolie effect: Contralateral risk-reducing mastectomy trends in patients at increased risk of breast cancer (2021) (11)
- Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing (2019) (11)
- Risk-reducing mastectomy rates in the US: A closer examination of the Angelina Jolie effect. (2018) (11)
- Polygenic risk modeling for prediction of epithelial ovarian cancer risk (2022) (11)
- Effect of early American results on patients in a tamoxifen prevention trial (IBIS) (1998) (11)
- Mortality in Neurofibromatosis 1 (2012) (11)
- A mismatch in care: results of a United Kingdom‐wide patient and clinician survey of gynaecological services for women with Lynch syndrome (2020) (11)
- Familial breast cancer: is it time to move from a reactive to a proactive role? (2011) (11)
- Mammographic surveillance in women aged 35–39 at enhanced familial risk of breast cancer (FH02) (2014) (11)
- Radial ray defects, renal ectopia, duodenal atresia and hydrocephalus: the extended spectrum for Fanconi anaemia. (1994) (11)
- Metachronous colorectal cancer risk in patients with a moderate family history (2013) (11)
- Cognitive and Electrophysiological Correlates of Working Memory Impairments in Neurofibromatosis Type 1 (2021) (11)
- Cancer Prevention with Resistant Starch in Lynch Syndrome Patients in the CAPP2-Randomized Placebo Controlled Trial: Planned 10-Year Follow-up (2022) (10)
- The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant (2021) (10)
- Molecular genetic tests in surgical management of familial adenomatous polyposis (1997) (10)
- Adherence to a Diet and Exercise Weight Loss Intervention amongst Women at Increased Risk of Breast Cancer (2010) (10)
- Bayesian evaluation of breast cancer screening using data from two studies (2003) (10)
- Perceived fatigue in children and young adults with neurofibromatosis type 1 (2020) (10)
- Assessment of mismatch repair deficiency in ovarian cancer (2020) (10)
- Feasibility of Gynaecologist Led Lynch Syndrome Testing in Women with Endometrial Cancer (2020) (10)
- Are we ready for online tools in decision making for BRCA1/2 mutation carriers? (2012) (10)
- Familial unilateral vestibular schwannoma is rarely caused by inherited variants in the NF2 gene (2018) (10)
- Prospective Evaluation of a Breast Cancer Risk Model Integrating Classical Risk Factors and Polygenic Risk in 15 Cohorts from Six Countries (2019) (10)
- Development of Breast Cancer Choices: a decision support tool for young women with breast cancer deciding whether to have genetic testing for BRCA1/2 mutations (2018) (10)
- BRCA and lynch syndrome-associated ovarian cancers behave differently (2017) (10)
- Comparison of a Standard Resolution PET-CT Scanner With an HRRT Brain Scanner for Imaging Small Tumors Within the Head (2019) (10)
- Targeting lung cancer screening to individuals at greatest risk: the role of genetic factors (2020) (9)
- Confirmation that somatic mutations of beta‐2 microglobulin correlate with a lack of recurrence in a subset of stage II mismatch repair deficient colorectal cancers from the QUASAR trial (2019) (9)
- Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report (2021) (9)
- Introducing a low-risk breast screening pathway into the NHS Breast Screening Programme: Views from healthcare professionals who are delivering risk-stratified screening (2021) (9)
- An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome (2019) (9)
- Gene and pathway level analyses of germline DNA-repair gene variants and prostate cancer susceptibility using the iCOGS-genotyping array (2016) (9)
- Same task, same observers, different values: the problem with visual assessment of breast density (2013) (9)
- The BRCA2 polymorphic stop codon: stuff or nonsense? (2015) (9)
- Breast cancer risk stratification in women of screening age: Incremental effects of adding mammographic density, polygenic risk, and a gene panel. (2022) (9)
- Genotype-Phenotype Correlations in Neurofibromatosis and Their Potential Clinical use. (2021) (9)
- Chromosomal radiosensitivity and cancer predisposition (2000) (9)
- High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer (2020) (9)
- Protocol for a national multi-centre study of magnetic resonance imaging screening in women at genetic risk of breast cancer. (2000) (9)
- Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores (2021) (9)
- BRCA1, BRCA2 and CHEK2 c.1100 delC mutations in patients with double primaries of the breasts and/or ovaries (2010) (9)
- Autism Spectrum Disorder Symptom Profile Across the RASopathies (2021) (9)
- Is Zika the cause of Microcephaly ? Status Report June 22 , 2016 (2016) (9)
- Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline. (2022) (9)
- Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group (2021) (9)
- Development of a scoring system to screen for BRCA1/2 mutations. (2010) (9)
- Optimal selection of individuals for BRCA mutation testing. (2006) (9)
- Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF (2018) (9)
- Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers (2016) (9)
- Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance (2019) (9)
- Estrogen deprivation for breast cancer prevention. (2007) (9)
- A randomised trial of screening with digital breast tomosynthesis plus conventional digital 2D mammography versus 2D mammography alone in younger higher risk women. (2017) (9)
- Visual assessment of breast density using Visual Analogue Scales: observer variability, reader attributes and reading time (2017) (9)
- Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes (2019) (9)
- The Genetics of Vestibular Schwannoma (2014) (8)
- Value of Phenotypic and Single-Nucleotide Polymorphism Panel Markers in Predicting the Risk of Breast Cancer (2013) (8)
- Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds (2018) (8)
- A Micro-Costing Study of Screening for Lynch Syndrome-Associated Pathogenic Variants in an Unselected Endometrial Cancer Population: Cheap as NGS Chips? (2019) (8)
- Results of the CAPP1 Study: aspirin and resistant starch are beneficial in familial adenomatous polyposis (2003) (8)
- Clinical Guidelines and Evidence Report for The classification and care of women at risk of familial breast cancer in primary, secondary and tertiary care. (2004) (8)
- What Is the Malignancy Risk in Neurofibromatosis Type 1? (2016) (8)
- Concern regarding classification of germline TP53 variants as likely pathogenic (2019) (8)
- Neuro fi bromatosis Type 1 and Autism Spectrum Disorder (2013) (8)
- Extending screening intervals for women at low risk of breast cancer: do they find it acceptable? (2021) (8)
- Risk Estimation as a Decision-Making Tool for Genetic Analysis of the Breast Cancer Susceptibility Genes (2002) (8)
- Exploring the link between MORF4L1 and risk of breast cancer (2011) (8)
- C2 neurofibromas in neurofibromatosis type 1: genetic and imaging characteristics. (2019) (8)
- Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group (2021) (8)
- Final Results of the Prospective FH02 Mammographic Surveillance Study of Women Aged 35–39 at Increased Familial Risk of Breast Cancer (2019) (7)
- Use of Cytology to Diagnose Inherited Breast Cancer (2002) (7)
- From process to progress—2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis (2019) (7)
- A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report (2021) (7)
- Attitudes towards risk‐reducing early salpingectomy with delayed oophorectomy for ovarian cancer prevention: a cohort study (2020) (7)
- Lack of sex-ratio distortion in neurofibromatosis 2. (2000) (7)
- Exploring the prediction performance for breast cancer risk based on volumetric mammographic density at different thresholds (2018) (7)
- Is there really an increased risk of early colorectal cancer in women with BRCA1 pathogenic mutations? (2016) (7)
- 2157delG: a frequent mutation in BRCA2 missed by PTT (2000) (7)
- Modification of BRCA 1-Associated Breast and Ovarian Cancer Risk by BRCA 1-Interacting Genes (2011) (7)
- Lack of caveolin-1 (P132L) somatic mutations in breast cancer (2012) (7)
- Non‐expression of von Hippel‐Lindau phenotype in an obligate gene carrier (1994) (7)
- Insurance considerations for individuals with a high risk of breast cancer in Europe: Some recommendations (2000) (7)
- CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing (2017) (7)
- Clinical and neuroradiological characterisation of spinal lesions in adults with Neurofibromatosis type 1 (2020) (7)
- The genetics of gynaecological cancer (1995) (7)
- Breast cancer prevention: SERMs come of age (2013) (7)
- Women’s health behaviour change after receiving breast cancer risk estimates with tailored screening and prevention recommendations (2022) (7)
- Validation of a scale for assessing attitudes towards outcomes of genetic cancer testing among primary care providers and breast specialists (2017) (7)
- The Screening of Women Aged Less Than 50 Years At Increased Risk of Breast Cancer By Virtue of Their Family History. (2006) (7)
- Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium (2022) (7)
- Review of radiation therapy services for neurofibromatosis (NF2) patients in England (2014) (7)
- Non-random transmission of mutant alleles to female offspring in BRCA carriers (2005) (7)
- Neurofibromatosis type 2 and related disorders. (2019) (7)
- Eligibility for MRI screening in the UK: Effect of strict selection criteria and anonymous DNA testing on breast cancer incidence in the MARIBS study (2009) (6)
- Breast cancer risks associated with missense variants in breast cancer susceptibility genes (2021) (6)
- Are women with pathogenic variants in PMS2 and MSH6 really at high lifetime risk of breast cancer? (2018) (6)
- Familial colorectal cancer referral to regional genetics department—a single centre experience (2006) (6)
- Attitudes to contralateral risk reducing mastectomy among breast and plastic surgeons in England. (2016) (6)
- Common variants in breast cancer risk loci predispose to distinct tumor subtypes (2022) (6)
- A linkage study in seven breast cancer families. (1993) (6)
- MRI Screening in Women With a Personal History of Breast cancer. (2016) (6)
- Maternal gene effect in neurofibromatosis 2: fact or artefact? (2001) (6)
- [18F]fluorothymidine and [18F]fluorodeoxyglucose PET Imaging Demonstrates Uptake and Differentiates Growth in Neurofibromatosis 2 Related Vestibular Schwannoma (2019) (6)
- Should unaffected female BRCA2 pathogenic variant carriers be told there is little or no advantage from risk reducing mastectomy? (2019) (6)
- Surgical decision making in premenopausal BRCA carriers considering risk-reducing early salpingectomy or salpingo-oophorectomy: a qualitative study (2020) (6)
- Germline mutation analysis of the transforming growth factor β receptor type II (TGFBR2) and E-cadherin (CDH1) genes in early onset and familial colorectal cancer (2001) (6)
- Breast cancer risk for noncarriers of family-specific BRCA1 and BRCA2 mutations: more trouble with phenocopies. (2012) (6)
- P4-11-07: Feasibility and Acceptability of Offering Breast Cancer Risk Estimation in the Context of the UK National Health Service Breast Cancer Screening Programme: A New Paradigm for Cancer Prevention. (2011) (6)
- Long-Term Evaluation of Women Referred to a Breast Cancer Family History Clinic (Manchester UK 1987–2020) (2020) (6)
- Common breast cancer risk loci predispose to distinct tumor subtypes (2019) (6)
- Global burden of childhood and adolescent cancer. (2020) (6)
- From BRCA1 to Polygenic Risk Scores: Mutation-Associated Risks in Breast Cancer-Related Genes (2021) (6)
- First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics (2019) (6)
- General Practitioners and Breast Surgeons in France, Germany, Netherlands and the UK show variable breast cancer risk communication profiles (2015) (6)
- Sporadic vestibular schwannoma: a molecular testing summary (2020) (6)
- An assessment of sequential measurements of immune complex levels in ovarian cancer patients with respect to clinical progress. (1983) (6)
- Response to correspondence on “Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening” (2007) (6)
- Publisher Correction: Personalized early detection and prevention of breast cancer: ENVISION consensus statement (2020) (6)
- Early Adaptation of Colorectal Cancer Cells to the Peritoneal Cavity Is Associated with Activation of “Stemness” Programs and Local Inflammation (2020) (5)
- Delivering cancer genetics services-new ways of working (2008) (5)
- Germline FFPE inherited cancer panel testing in deceased family members: implications for clinical management of unaffected relatives (2021) (5)
- Heredity and dysmorphic syndromes in congenital limb deficiencies (1991) (5)
- Antiprogestins reduce epigenetic field cancerization in breast tissue of young healthy women (2022) (5)
- Clinical and molecular correlates of somatic mosaicism in neurofibromatosis 2 (2000) (5)
- Erratum to: MRI breast screening in high-risk women: cancer detection and survival analysis (2014) (5)
- Breast cancer susceptibility variants alter risk in familial ovarian cancer (2010) (5)
- New surveillance guidelines for Li-Fraumeni and hereditary TP53 related cancer syndrome: implications for germline TP53 testing in breast cancer (2020) (5)
- Genetic testing for cancer predisposition: need and demand. (1995) (5)
- Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer (2010) (5)
- Local mammographic density as a predictor of breast cancer (2015) (5)
- Re: risk-reduction mastectomy: clinical issues and research needs. (2002) (5)
- PTCH2 is not a strong candidate gene for gorlin syndrome predisposition (2021) (5)
- Evidence for SMAD 3 as a modifier of breast cancer risk in BRCA 2 mutation carriers (2010) (5)
- CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers (2021) (5)
- Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database (2020) (5)
- Lifestyle behaviours and health measures of women at increased risk of breast cancer taking chemoprevention. (2019) (5)
- Neurofibromatosis Type 2 (NF2) (2011) (5)
- Specialist oncological surgery for removal of the ovaries and fallopian tubes in BRCA1 and BRCA2 pathogenic variant carriers may reduce primary peritoneal cancer risk to very low levels (2020) (5)
- Risk of breast cancer in male BRCA 2 carriers (2019) (5)
- Prostate Cancer Risk by BRCA2 Genomic Regions (2020) (5)
- Uptake and efficacy of bilateral risk reducing surgery in unaffected female BRCA1 and BRCA2 carriers (2021) (5)
- ‘For me it's about not feeling like I'm on a diet’: a thematic analysis of women's experiences of an intermittent energy restricted diet to reduce breast cancer risk (2018) (5)
- Hyperplastic Polyps Are Innocuous Lesions in Hereditary Nonpolyposis Colorectal Cancers (2011) (5)
- Gene panel testing for breast cancer should not be used to confirm syndromic gene associations (2018) (5)
- Distinct reproductive risk profiles for intrinsic-like breast cancer subtypes: pooled analysis of population-based studies. (2022) (5)
- The feasibility of implementing risk stratification into a national breast cancer screening programme: a focus group study investigating the perspectives of healthcare personnel responsible for delivery (2022) (5)
- The spatial phenotype of genotypically distinct meningiomas demonstrate potential implications of the embryology of the meninges (2020) (5)
- Evaluation of the relative effectiveness of the 2017 updated Manchester scoring system for predicting BRCA1/2 mutations in a Southeast Asian country (2017) (5)
- Ahmed M, Lalloo F, Evans DG. Update on genetic predisposition to breast cancer (2009) (5)
- ‘Should I Take HRT, Doctor?’ Hormone Replacement Therapy in Women at Increased Risk of Breast Cancer and in Survivors of the Disease (1995) (5)
- Dealing with family history of breast cancer: something new, something old. (2014) (5)
- Cancer occurrence during follow-up of the CAPP2 study -aspirin use for up to four years significantly reduces Lynch syndrome cancers for up to several years after completion of therapy (2010) (5)
- Heritability of mammographic breast density. (2020) (4)
- Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes (2021) (4)
- Use of Volumetric Breast Density Measures for the Prediction of Weight and Body Mass Index (2014) (4)
- Uptake of pre-symptomatic testing for BRCA1 and BRCA2 is age, gender, offspring and time-dependent (2020) (4)
- Histological and Somatic Mutational Profiles of Mismatch Repair Deficient Endometrial Tumours of Different Aetiologies (2021) (4)
- High sensitivity for BRCA1/2 mutations in breast/ovarian kindreds: are there still other breast/ovary genes to be discovered? (2012) (4)
- Publisher Correction: Shared heritability and functional enrichment across six solid cancers (2019) (4)
- Constitutional de novo deletion CNV encompassing REST predisposes to diffuse hyperplastic perilobar nephroblastomatosis (HPLN) (2020) (4)
- MYH polyposis: A new autosomal recessive form of familial adenomatous polyposis due to defective base excision repair-reappraisal of genetic risk and family management (2003) (4)
- Screening of patients at high risk of colorectal cancer (2001) (4)
- Elevated breast cancer risk among mothers of a population-based series of 2668 children with cancer (2008) (4)
- Multifocality in neurofibromatosis type 2. (2014) (4)
- Genetic Testing for Breast Cancer Predisposition in 1999: Which Molecular Strategy and which Family Criteria? (2002) (4)
- Breast cancer incidence and early diagnosis in a family history risk and prevention clinic: 33-year experience in 14,311 women (2021) (4)
- Incorporating progesterone receptor expression into the PREDICT breast prognostic model. (2022) (4)
- The BRCA1/2 Parent-of-Origin Effect on Breast Cancer Risk—Letter (2017) (4)
- Choose and stay on one out of two paths: distinction between clinical versus research genetic testing to identify cancer predisposition syndromes among patients with cancer (2021) (4)
- Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort. (2022) (4)
- Multiple primary malignancies associated with a germline SMARCB1 pathogenic variant (2019) (4)
- ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis (2022) (4)
- Gliomas in the context of Li-Fraumeni syndrome: An international cohort. (2019) (4)
- Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci (2022) (4)
- TP53, a gene for colorectal cancer predisposition in the absence of Li-Fraumeni-associated phenotypes (2020) (4)
- Sarcoma in neurofibromatosis 2: case report and review of the literature (2018) (4)
- Uptake of bilateral-risk-reducing-mastectomy: Prospective analysis of 7195 women at high-risk of breast cancer (2021) (4)
- Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK). (2022) (4)
- Factors Affecting Agreement between Breast Density Assessment Using Volumetric Methods and Visual Analogue Scales (2014) (4)
- Li-Fraumeni Exploration Consortium Data Coordinating Center: Building an Interactive Web-Based Resource for Collaborative International Cancer Epidemiology Research for a Rare Condition (2020) (4)
- Critical research gaps and translational priorities for the successful prevention and treatment of breast cancer (2013) (3)
- Tumour characteristics and survival in familial breast cancer prospectively diagnosed by annual mammography (2015) (3)
- Diagnosed with breast cancer whilst on a family history screening programme: an exploratory qualitative study (2008) (3)
- Gene Panel Testing for Breast Cancer Reveals Differential Effect of Prior BRCA1/2 Probability (2021) (3)
- Testing a breast cancer prevention and a multiple disease prevention weight loss programme amongst women within the UK NHS breast screening programme—a randomised feasibility study (2021) (3)
- National survey of patients with Gorlin syndrome highlights poor awareness, multiple treatments and profound psychosocial impact of disease (2016) (3)
- RESULTS OF INTENSIVE ALGORITHM-BASED SCREENING IN THE UK FAMILIAL OVARIAN CANCER SCREENING STUDY (UK FOCSS PHASE 2) (2013) (3)
- 150 Optimal Age to Start Preventive Measures in Women with BRCA1/2 Mutations or High Familial Breast Cancer Risk (2012) (3)
- Implementing Risk-Stratified Breast Screening in England: An Agenda Setting Meeting (2022) (3)
- A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening (2016) (3)
- Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer (2021) (3)
- Lessons learned from drug trials in neurofibromatosis: A systematic review. (2021) (3)
- Cancer risks by sex and variant type in PTEN Hamartoma Tumor Syndrome. (2022) (3)
- Germline intergenic duplications at Xq26.1 underlie Bazex–Dupré–Christol basal cell carcinoma susceptibility syndrome * (2022) (3)
- Volumetric and Area-Based Measures of Mammographic Density in Women with and without Cancer (2012) (3)
- Infantile fibrosarcoma with TPM3-NTRK1 fusion in a boy with Bloom syndrome (2020) (3)
- The Relationship between Body Mass Index and Mammographic Density during a Premenopausal Weight Loss Intervention Study (2021) (3)
- Reader performance in visual assessment of breast density using visual analogue scales: Are some readers more predictive of breast cancer? (2018) (3)
- Risk of contralateral breast cancer amongst BRCA1/2 mutation carriers (2016) (3)
- ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1 (2023) (3)
- Dominant‐negative pathogenic variant BRIP1 c.1045G>C is a high‐risk allele for non‐mucinous epithelial ovarian cancer: A case‐control study (2021) (3)
- New evidence confirms that reproductive risk factors can be used to stratify breast cancer risks: Implications for a new population screening paradigm. (2019) (3)
- Survival from breast cancer in women with a BRCA2 mutation by treatment (2021) (3)
- Cochlear Implantation in Neurofibromatosis Type 2: Experience From the UK Neurofibromatosis Type 2 Service (2022) (3)
- Identifying challenges in neurofibromatosis: a modified Delphi procedure (2021) (3)
- Cranial irradiation in childhood mimicking neurofibromatosis type II (2017) (3)
- Does receiving high or low breast cancer risk estimates produce a reduction in subsequent breast cancer screening attendance? Cohort study (2022) (3)
- Using a convolutional neural network to predict readers' estimates of mammographic density for breast cancer risk assessment (2018) (3)
- Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer (2016) (3)
- The prevalence of mismatch repair deficiency in ovarian cancer: A systematic review and meta‐analysis (2022) (3)
- Personalised Risk Prediction in Hereditary Breast and Ovarian Cancer: A Protocol for a Multi-Centre Randomised Controlled Trial (2022) (3)
- Mendelian randomisation study of smoking exposure in relation to breast cancer risk (2021) (3)
- Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment (2021) (3)
- Cancer risk and genotype–phenotype correlations in PTEN hamartoma tumor syndrome (2013) (3)
- Challenging the believed proportion of ovarian cancer attributable to BRCA2 versus BRCA1 pathogenic variants. (2019) (3)
- Erratum: Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition (British Journal of Cancer (2018) 118 (266-276) DOI: 10.1038/bjc.2017.429) (2018) (3)
- Sporadic implementation of UK familial mammographic surveillance guidelines 15 years after original publication (2019) (3)
- Abstract OT2-10-02: Mypebs: An international randomized study comparing personalized, risk-stratified to standard breast cancer screening in women aged 40-70 (2022) (3)
- Entry into the tamoxifen prevention trial depends on women's estimates of the population risk of breast cancer (1995) (3)
- The importance of genetic counseling and screening for people with pathogenic SMARCE1 variants: A family study (2020) (3)
- Erratum: The Fragile X Protein binds mRNAs involved in cancer progression and modulates metastasis formation [EMBO Mol Med, 5, (2013) 1523-1536, DOI: 10.1002/emmm.201302847] (2014) (3)
- Automatic density prediction in low dose mammography (2020) (3)
- Risk algorithms that include pathology adjustment for HER2 amplification need to make further downward adjustments in likelihood scores (2016) (2)
- Management of the contralateral breast in patients with hereditary breast cancer. (2000) (2)
- Familial ovarian cancer screening. (2006) (2)
- Evaluation of a Strati fi ed National Breast Screening Program in the United Kingdom : An Early Model-Based Cost-Effectiveness Analysis (2018) (2)
- Heterogeneity in genetic conditions. (1992) (2)
- Breast Cancer Risk Stratification in Women of Screening Age: Incremental Effects of Adding Mammographic Density, Polygenic Risk and a Gene Panel (2021) (2)
- There may never be a final cure for breast cancer. (2001) (2)
- A common MSH 2 mutation in English and North American HNPCC families : origin , phenotypic expression , and sex specific di V erences in colorectal cancer (1999) (2)
- Sensitivity of BRCA 1 / 2 mutation testing in 466 breast / ovarian cancer families (2003) (2)
- Non-uptake of predictive genetic testing for BR-CA1/2: attributes, cancer worry and barriers to testing in a multi-centre clinical cohort (2003) (2)
- Corrigendum The (2014) (2)
- Contralateral breast cancer risk in BRCA1/2-positive families needs to be adjusted for phenocopy rates particularly in second-degree untested relatives (2013) (2)
- Neurofibromatosis type 2 discordance in monozygous twins (2020) (2)
- Advances in genetic technologies result in improved diagnosis of mismatch repair deficiency in colorectal and endometrial cancers (2021) (2)
- High detection rate from genetic testing in BRCA-negative women with familial epithelial ovarian cancer. (2022) (2)
- Patient reported outcome measures in a cohort of patients at high risk of breast cancer treated by bilateral risk reducing mastectomy and breast reconstruction. (2021) (2)
- Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition (2018) (2)
- Should we offer multi-gene testing to all patients with breast cancer: a cost-effectiveness analysis (2019) (2)
- Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer (2022) (2)
- BRCA1/2 in non-mucinous epithelial ovarian cancer: tumour with or without germline testing? (2022) (2)
- Medical management of neurofibromatosis (2011) (2)
- Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study (2022) (2)
- A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot (2022) (2)
- A Genome-Wide Gene-Based Gene–Environment Interaction Study of Breast Cancer in More than 90,000 Women (2022) (2)
- Sporadic implementation of UK familial mammographic surveillance guidelines 15 years after original publication (2019) (2)
- No strong evidence for increased risk of breast cancer 8-26 years after multiple mammograms in their 30s in females at moderate and high familial risk. (2016) (2)
- The co-development of personalised 10-year breast cancer risk communications: a ‘think-aloud’ study (2022) (2)
- Rapid reversal of clinical down‐classification of a BRCA1 splicing variant avoiding psychological harm (2019) (2)
- Beyond Antoni: A Surgeon's Guide to the Vestibular Schwannoma Microenvironment (2020) (2)
- Cost-effectiveness model of renal cell carcinoma (RCC) surveillance in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) (2022) (2)
- Whole-genome sequencing of a sporadic primary immunodeficiency cohort (2020) (2)
- Constitutional microsatellite instability, genotype, and phenotype correlations in Constitutional Mismatch Repair Deficiency. (2022) (2)
- The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants in BRCA1 and BRCA2 (2022) (2)
- Incidence of tumour BRCA1/2 variants in relapsed, platinum-sensitive ovarian, fallopian tube and primary peritoneal cancer (2019) (2)
- Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes (2022) (2)
- Whole exome sequencing study to detect germline pathogenic variants in PALB2 and other cancer-predisposing genes in CDH1 mutation negative diffuse gastric cancer families. (2018) (2)
- Erratum: Mortality in neurofibromatosis 1: In North West England: An assessment of actuarial survival in a region of the UK since 1989 (European Journal of Human (2013) 21 (1031) DOI: 10.1038/ejhg.2013.121) (2013) (2)
- Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma (2021) (2)
- Neurofibromatosis type 2: Multiple intra‐dermal tumors in a toddler (2017) (2)
- Threshold for genetic testing in women with breast cancer needs to be determined (2014) (2)
- RAZOR: A Phase II Open Randomized Trial of Screening Plus Goserelin and Raloxifene Versus Screening Alone in Premenopausal Women at Increased Risk of Breast Cancer (2017) (2)
- Preferences for breast cancer prevention among women with a BRCA1 or BRCA2 mutation (2020) (2)
- Non-invasive brain stimulation modulates GABAergic activity in neurofibromatosis 1 (2021) (2)
- The effects of weight loss and exercise on biomarkers of breast cancer risk. (2002) (2)
- Comment on the article “Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri” by van den Munckhof et al. (2012) (2)
- Phase 0 trial investigating the intratumoural concentration and activity of sorafenib in neurofibromatosis type 2 (2019) (2)
- The ethics of testing for cancer-predisposition genes (1996) (2)
- Breast cancer worry in higher-risk women offered preventive therapy: a UK multicentre prospective study (2021) (2)
- Two truncating variants in FANCC and breast cancer risk (2019) (2)
- Familial Breast and Ovarian Cancer: Prophylactic mastectomy in mutation carriers (2002) (2)
- Abstract P4-13-09: The effect of weight change on breast adipose and dense tissue (2012) (1)
- Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report (2019) (1)
- Does the prediction of breast cancer improve using a combination of mammographic density measures compared to individual measures alone? (2017) (1)
- Science or black magic? (2001) (1)
- Findings Linking Mismatch Repair Mutation With Age at Endometrial and Ovarian Cancer Onset in Lynch Syndrome-Reply. (2018) (1)
- Abstract P5-12-01: Predicting the effect of tamoxifen on the breast: Change in measures of breast density, serum markers and SNPs (2015) (1)
- Genome-wide association study of germline variants and breast cancer-speci fi c mortality (2019) (1)
- Risk perception and disease knowledge in attendees of a community-based lung cancer screening programme. (2022) (1)
- Updated protocol for genetic testing, screening and clinical management of individuals at risk of NF2‐related schwannomatosis (2023) (1)
- Correlation of Unilateral Sporadic Vestibular Schwannoma Growth Rates with Genetic and Immunohistochemical Abnormalities (2015) (1)
- Psychological impact of risk-stratified screening as part of the NHS Breast Screening Programme: multi-site non-randomised comparison of BC-Predict versus usual screening (NCT04359420) (2023) (1)
- GORLIN SYNDROME (2020) (1)
- phylogenetic approach identified mitochondrial haplogroup T 1 a 1 as inversely associated with breast cancer risk in BRCA 2 mutation carriers (2015) (1)
- Development and evaluation of polygenic risk scores for prediction of endometrial cancer risk in European women. (2022) (1)
- Risk reducing salpingectomy and delayed oophorectomy in high risk women: views of cancer geneticists, genetic counsellors and gynaecological oncologists in the UK (2015) (1)
- P3-09-02: Intermittent Dietary Carbohydrate Restriction Enables Weight Loss and Reduces Breast Cancer Risk Biomarkers. (2011) (1)
- Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in $\small \textit{BRCA1}$ and $\small \textit{BRCA2}$ Mutation Carriers (2016) (1)
- Proffered Paper: A comparison of four methods of mammographic density measurement in the UK Predicting Risk Of Cancer At Screening (PROCAS) study – on behalf of the PROCAS Study team (2016) (1)
- Correction: Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study (2019) (1)
- How can medical oncologists deal with the new wave of genetic information about their patients (2012) (1)
- Screening of potential novel candidate genes in schwannomatosis patients (2022) (1)
- Analysis of rare disruptive germline mutations in 2,135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes. (2022) (1)
- Should We Adjust Visually Assessed Mammographic Density for Observer Variability? (2016) (1)
- Proceedings of the 24th Annual Meeting of the Portuguese Society of Human Genetics (SPGH – Sociedade Portuguesa de Genética Humana) (2021) (1)
- PROCAS: Predicting Risk of Breast Cancer at Screening (2016) (1)
- Chapter 5 Neurofibromatosis type 2 (1)
- Genetics of cancer: current knowledge and future possibilities. (1998) (1)
- Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers (2012) (1)
- Null Results in Brief Common Genetic Variation at BARD 1 Is Not Associated with Breast Cancer Risk in BRCA 1 or BRCA 2 Mutation Carriers (2011) (1)
- Title Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA 1 and BRCA 2 mutation carriers (2015) (1)
- Automatic assessment of mammographic density using a deep transfer learning method (2022) (1)
- Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report (2017) (1)
- Penetrance estimates for BRCA1, BRCA2 (also applied to Lynch syndrome) based on presymptomatic testing: a new unbiased method to assess risk? (2018) (1)
- Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group (2022) (1)
- Survival and disease characteristics of de novo versus recurrent metastatic breast cancer in a cohort of young patients (2020) (1)
- Abstract P1-09-05: The RAZOR trial: a phase II prevention trial of screening plus goserilin and raloxifene versus screening alone in pre-menopausal women at increased risk of breast cancer. (2012) (1)
- Contralateral breast cancer in high-risk patients: Identification of risk factors to guide recommendations for contralateral prophylactic mastectomy – A 30-year experience (2013) (1)
- Proceedings of the 137th meeting of the Society of British Neurological Surgeons held jointly with the Swiss Neurosurgical Society (2001) (1)
- Is Breast Cancer Risk Associated with Menopausal Hormone Therapy Modified by Current or Early Adulthood BMI or Age of First Pregnancy? (2021) (1)
- Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort (2020) (1)
- Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers (2022) (1)
- Mastectomies of healthy, contralateral breasts in patients with breast cancer. (2013) (1)
- Earlier decisions on breast and ovarian surgery reduce cancer in women at high risk (2021) (1)
- Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk (2022) (1)
- Preferences for breast cancer prevention among women with a BRCA1 or BRCA2 mutation (2020) (1)
- Current breast screening services available throughout Europe to families at increased genetic risk for breast cancer (2000) (1)
- Constructing a Panel of Common Predisposition Variants to Predict Women That Are at High-Risk of Developing Endometrial Cancer. (2019) (1)
- Re‐evaluation of missense variant classifications in NF2 (2022) (1)
- 2022-RA-1605-ESGO Precision-predicting risk of endometrial cancer in asymptomatic women (2022) (1)
- How do women who are informed that they are at increased risk of breast cancer appraise their risk? A systematic review of qualitative research (2022) (1)
- Quantifying the effects of risk-stratified breast cancer screening when delivered in real time as routine practice versus usual screening: the BC-Predict non-randomised controlled study (NCT04359420) (2023) (1)
- Rare germline copy number variants (CNVs) and breast cancer risk (2022) (1)
- Genetic markers for breast cancer. (1996) (1)
- Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture (2018) (1)
- 20. Breast surgeons' attitudes towards bilateral risk reducing mastectomy – A comparison between the UK, the US, France and Germany (2015) (1)
- Breast cancer risk assessment and validation in The National Breast Screening Programme: PRoCAS – Predicting Risk of Cancer At Screening study (2009) (1)
- The Relationship of Volumetric Breast Density to Socio-Economic Status in a Screening Population (2014) (1)
- Key genetic considerations in the management of suspected hereditary colorectal cancer (2013) (1)
- UK National Trial assessing the impact of testing for BRCA1/2 breast/ovarian cancer predisposition genes (1998) (1)
- Abstract PD1-07: Mammographic density and SNPs add to Tyrer-Cuzick and Gail model breast cancer risk in a UK screening cohort (2016) (1)
- Reply to Kratz et al. (2020) (1)
- Healthcare professionals’ views following implementation of risk stratification into a national breast cancer screening programme (2022) (1)
- Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women (2016) (1)
- Polygenic Risk Modelling for Prediction of Epithelial Ovarian Cancer Risk (2020) (1)
- Accurate Prediction of BRCA 1 and BRCA 2 Heterozygous Genotype Using Expression Profiling after Induced DNADamage (2006) (1)
- Prophylactic mastectomy and breast cancer-- reply. (2013) (1)
- Psychological impact of providing women with personalised 10-year breast cancer risk estimates (2018) (1)
- Polymorphisms of the aromatase gene (CYP19A1) and benefit of aromatase inhibitors (AIs) in metastatic breast cancer (mBC) patients. (2011) (1)
- BREAST CANCER: Epidemiology and genetics of breast cancer (2016) (1)
- Involvement of the SWI/SNF Complex in Familial Meningiomatosis (2014) (1)
- Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci (2022) (1)
- Association of superficial plexiform and paraspinal neurofibromas in neurofibromatosis 1 (NF1) (1999) (1)
- Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6. (2019) (1)
- Ethnic Variation in Volumetric Breast Density (2012) (1)
- Response to Benusiglio et al. (2020) (1)
- Population‐based testing of non‐mucinous epithelial ovarian cancer in Scotland (2018) (1)
- Counseling About Cancer: Strategies for Genetic Counseling (2002) (1)
- Comment on: SMARCB1 Gene Mutation Predisposes to Earlier Development of Glioblastoma: A Case Report of Familial GBM. (2021) (1)
- Contralateral risk reducing mastectomy – The Manchester experience (2014) (1)
- Regarding "Neuro-Oncology Practice Clinical Debate: targeted therapy vs conventional chemotherapy in pediatric low-grade glioma". (2020) (1)
- CHAPTER 5 – The approach to diagnosis and assessment of breast lumps (2009) (1)
- Risk determination and prevention of breast cancer (2014) (1)
- Testing a Breast Cancer Prevention and a Multiple Disease Prevention Weight Loss Programme Among Women Within The UK NHS Breast Screening Programme - A Randomised Feasibility Study (2020) (1)
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- Breast Cancer Risk and 6 q 22 . 33 : Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA 1 / 2 (2012) (1)
- Aalborg Universitet Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by overdiagnosis ; A prospective Lynch syndrome database report (2019) (1)
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- Correction: The spatial phenotype of genotypically distinct meningiomas demonstrate potential implications of the embryology of the meninges (2021) (0)
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- Correction to: Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers (2020) (0)
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- The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer (2019) (0)
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- RE: Heterozygous BRCA1/BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer. (2022) (0)
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- Abstract P3-08-01: The prospective risk of ovarian cancer in 1433 women in a breast cancer family history clinic: no increased risk in families testing negative forBRCA1andBRCA2. (2012) (0)
- Differential involvement of germline pathogenic variants in breast cancer genes between DCIS and low-grade invasive cancers (2022) (0)
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- Author Correction: Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals (2021) (0)
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- Correction to: Choose and stay on one out of two paths: distinction between clinical versus research genetic testing to identify cancer predisposition syndromes among patients with cancer (2021) (0)
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- A polymorphic variant in RASSF1A is not associated with increased susceptibility in familial breast cancer (2010) (0)
- Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis (2012) (0)
- Table 2. [Presenting Symptoms of 120 Individuals with NF2]. (2011) (0)
- BRCA1/2 in non-mucinous epithelial ovarian cancer: tumour with or without germline testing? (2022) (0)
- Future Research Suggestions for Multigene Testing in Unselected Populations-Reply. (2020) (0)
- Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds (2018) (0)
- Appearances can be deceptive: an APC 1893del4 mutation with unusual properities. Mutations in brief no. 171. Online. (1998) (0)
- q 31 . 2 and in ZNF 365 are associated with breast cancer risk for BRCA 1 and / or BRCA 2 mutation carriers (2012) (0)
- Refined histopathological predictors of BRCA1 and BRCA2mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia (2014) (0)
- 135P Real-time genotyping-based breast cancer risk assessment in MyPeBS, an international randomized trial in the general population comparing risk-stratified to standard breast cancer screening (BCS) (2022) (0)
- High-risk breast cancer predisposition genes (2009) (0)
- Edinburgh Research Explorer Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer (2018) (0)
- Genotype and phenotype in carriers of germline TP53 mutations (2001) (0)
- Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records. (2022) (0)
- Common germline polymorphisms associated with breast cancer-specific survival (2015) (0)
- Family history of breast cancer [1] (multiple letters) (2005) (0)
- Genetic Predisposition in Young Patients with Solitary Meningiomas (2016) (0)
- Homologous recombination deficiency in newly diagnosed FIGO stage III/IV high-grade epithelial ovarian cancer: a multi-national observational study (2023) (0)
- Volumetric and Area-Based Breast Density Measurement in a Large Clinical Study (2012) (0)
- Abstract P2-09-02: True effect of aromatase inhibitor (AI) treatment on global gene expression (expr) changes in postmenopausal ER+ breast cancer (BC) patients: A POETIC study (CRUK/07/015) (2017) (0)
- Infant excitation/inhibition balance interacts with executive attention to predict autistic traits in childhood (2022) (0)
- Risk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutations (2011) (0)
- Additional Genotype-Phenotype Correlations in Neurofibromatosis 2 (2009) (0)
- Extending screening intervals for women at low risk of breast cancer: do they find it acceptable? (2021) (0)
- OP-JNCI200057 329..337 (2021) (0)
- The introduction of risk stratified screening into the NHS breast screening Programme: views from British-Pakistani women (2020) (0)
- Women’s health behaviour change after receiving breast cancer risk estimates with tailored screening and prevention recommendations (2022) (0)
- Artificial intelligence for image-based breast cancer risk prediction using attention (2023) (0)
- Should women with Neurofibromatosis type 1 be offered breast screening between the ages of 40 and 50? Planning national recruitment to a prospective study (2009) (0)
- The role of knowledge, primary care and community engagement to improve breast-screening access for Pakistani women in the United Kingdom: A secondary analysis of a qualitative study. (2023) (0)
- Beliefs about weight and breast cancer: an interview study with high risk women following a 12 month weight loss intervention (2015) (0)
- Florid oral manifestations in an atypical familial adenomatous polyposis family with late presentation of colorectal polyps. (1996) (0)
- Mammographic density change in a cohort of premenopausal women receiving tamoxifen for breast cancer prevention over 5 years (2020) (0)
- What are the views of three key stakeholder groups on extending the breast screening interval for low‐risk women? A secondary qualitative analysis (2022) (0)
- Abstract PD14-01: PD14-01 A model to assess the utility of risk-based screening algorithms (2023) (0)
- Common variants in breast cancer risk loci predispose to distinct tumor subtypes (2022) (0)
- Correction: Evaluating the Acceptance and Usability of an App Promoting Weight Gain Prevention and Healthy Behaviors Among Young Women With a Family History of Breast Cancer: Protocol for an Observational Study (2023) (0)
- Evaluating the Acceptance and Usability of an App Promoting Weight Gain Prevention and Healthy Behaviors Among Young Women With a Family History of Breast Cancer: Protocol for an Observational Study (2022) (0)
- Estimating the Cost of 3 Risk Prediction Strategies for Potential Use in the United Kingdom National Breast Screening Program (2023) (0)
- Surgical Outcome Measures in a Cohort of Patients at High Risk of Breast Cancer Treated by Bilateral Risk-Reducing Mastectomy and Breast Reconstruction (2022) (0)
- Male breast cancer in BRCA1 and BRCA2 mutation carriers (2018) (0)
- Exploring the prediction performance for breast cancer risk based on volumetric mammographic density at different thresholds (2018) (0)
- Abstract P1-10-01: Results from the breast cancer - anti progestin prevention study 1 (BC-APPS1) trial - a novel approach in breast cancer prevention (2022) (0)
- Polygenic risk modeling for prediction of epithelial ovarian cancer risk (2022) (0)
- Article: Breast cancer polygenic risk scores derived in White European populations are not calibrated for women of Ashkenazi Jewish descent. (2023) (0)
- Explaining differences in the frequency of lung cancer detection between the National Lung Screening Trial and community-based screening in Manchester, UK. (2022) (0)
- A comparison of five methods of measuring mammographic density: a case-control study (2018) (0)
- Obesity at age 20 and weight gain during adulthood increase risk of total and premature all-cause mortality: findings from women attending breast screening in Manchester (2023) (0)
- Symposium: COGS International Scientific Seminar (2012) (0)
- Genome-wide association study of germline variants and breast cancer-speci fi c mortality (2019) (0)
- Neurocutaneous Disorders: Neurofibromatosis type 2 (2004) (0)
- Breast cancer risks associated with missense variants in breast cancer susceptibility genes (2022) (0)
- FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women. (2023) (0)
- Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry (2023) (0)
- What are the benefits and harms of risk stratified screening as part of the NHS breast screening Programme? Study protocol for a multi-site non-randomised comparison of BC-predict versus usual screening (NCT04359420) (2020) (0)
- Magnitude and attributed reasons for adult weight gain amongst women at increased risk of breast cancer (2022) (0)
- Effect of WBC BRCA1 promoter methylation on ovarian cancer risk. (2011) (0)
- Prophylactic mastectomy: Patient selection and development of a surgical technique (1998) (0)
- Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals (2020) (0)
- Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses (2020) (0)
- Detection of pathogenic variants in breast cancer susceptibility genes in bilateral breast cancer (2023) (0)
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