Marc Tischkowitz

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Marc Tischkowitz is affiliated with the following schools: University of Cambridge, TU Dresden, University of Liverpool, McGill University, University of Cologne

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Marc Tischkowitz

Biology

#11720

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#15141

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Genetics

#1274

World Rank

#1376

Historical Rank

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Biology

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According to Wikipedia, Marc Tischkowitz is a British medical geneticist. He is a Professor and Honorary NHS Consultant in the Department of Medical Genetics at University of Cambridge and editor-in-chief of Reports. Tischkowitz researches Fanconi Anemia genes, hereditary cancer syndromes, and genomic technologies.

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Marc Tischkowitz'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

Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers (2017) (1644)
Olaparib in patients with recurrent high-grade serous or poorly differentiated ovarian carcinoma or triple-negative breast cancer: a phase 2, multicentre, open-label, non-randomised study. (2011) (1043)
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)
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer (2007) (629)
Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer. (2013) (619)
Disruption of the Fanconi anemia–BRCA pathway in cisplatin-sensitive ovarian tumors (2003) (558)
Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers (2015) (461)
Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. (2007) (413)
Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk (2013) (405)
Prevalence and architecture of de novo mutations in developmental disorders (2017) (405)
Use of immunohistochemical markers can refine prognosis in triple negative breast cancer (2007) (400)
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. (2015) (390)
Breast-cancer risk in families with mutations in PALB2. (2014) (367)
Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type (2014) (356)
Hereditary breast cancer: new genetic developments, new therapeutic avenues (2008) (332)
BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors (2019) (325)
Effect of BRCA Mutations on Metastatic Relapse and Cause-specific Survival After Radical Treatment for Localised Prostate Cancer. (2015) (276)
Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia. (2007) (261)
DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors. (2011) (260)
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer (2017) (244)
Whole-genome sequencing of patients with rare diseases in a national health system (2020) (239)
Evidence for 28 genetic disorders discovered by combining healthcare and research data (2020) (223)
Targeted Prostate Cancer Screening in BRCA1 and BRCA2 Mutation Carriers: Results from the Initial Screening Round of the IMPACT Study (2014) (222)
Analysis of PALB2/FANCN-associated breast cancer families (2007) (219)
Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers (2017) (211)
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations (2018) (206)
Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families. (2019) (196)
PALB2/FANCN: recombining cancer and Fanconi anemia. (2010) (194)
Phase II study of vinorelbine in patients with malignant pleural mesothelioma. (2000) (184)
Extending the phenotypes associated with DICER1 mutations (2011) (178)
Identification of six new susceptibility loci for invasive epithelial ovarian cancer (2014) (176)
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS (2016) (174)
Fanconi anaemia and leukaemia – clinical and molecular aspects (2004) (169)
Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women (2007) (163)
Hereditary diffuse gastric cancer: updated clinical practice guidelines. (2020) (145)
Analysis of the gene coding for the BRCA2-interacting protein PALB2 in familial and sporadic pancreatic cancer. (2009) (144)
Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores (2017) (142)
Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer. (2013) (138)
Germline Mutation in BRCA1 or BRCA2 and Ten-Year Survival for Women Diagnosed with Epithelial Ovarian Cancer (2014) (135)
Breast-cancer risk in families with mutations in PALB2. (2014) (131)
Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation (2006) (129)
Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers (2019) (129)
The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome (2019) (122)
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170 (2016) (122)
Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk (2013) (120)
A PALB2 mutation associated with high risk of breast cancer (2010) (118)
Personalized early detection and prevention of breast cancer: ENVISION consensus statement (2020) (117)
Germline DICER1 mutations and familial cystic nephroma (2010) (113)
DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers (2014) (112)
Can we define tumors that will respond to PARP inhibitors? A phase II correlative study of olaparib in advanced serous ovarian cancer and triple-negative breast cancer. (2010) (111)
Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses (2019) (110)
Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes (2020) (106)
Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study☆ (2020) (106)
A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain. (2005) (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)
Clinical implications of germline mutations in breast cancer: TP53 (2017) (98)
Randomized trial of a specialist genetic assessment service for familial breast cancer. (2000) (98)
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6 (2015) (96)
Rare germline mutations in PALB2 and breast cancer risk: A population‐based study (2012) (92)
Whole genome sequencing of a sporadic primary immunodeficiency cohort (2018) (92)
An assessment of the efficacy of cancer genetic counselling using real-time videoconferencing technology (telemedicine) compared to face-to-face consultations. (2005) (88)
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension (2017) (84)
Large genomic deletions in AIP in pituitary adenoma predisposition. (2008) (82)
Fanconi anaemia (2003) (82)
Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers. (2011) (82)
Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D (2020) (80)
Homozygous BUB1B mutation and susceptibility to gastrointestinal neoplasia. (2010) (80)
Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study (2018) (78)
BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers. (2016) (76)
Incorporating Truncating Variants in PALB2, CHEK2 and ATM into the BOADICEA Breast Cancer Risk Model (2016) (76)
Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group (2018) (76)
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes (2019) (74)
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes (2019) (74)
Bi‐allelic silencing of the Fanconi anaemia gene FANCF in acute myeloid leukaemia (2003) (74)
Prospective cohort study assessing outcomes of patients from families fulfilling criteria for hereditary diffuse gastric cancer undergoing endoscopic surveillance. (2014) (73)
Comparative study of endoscopic surveillance in hereditary diffuse gastric cancer according to CDH1 mutation status (2017) (72)
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer (2017) (70)
miRNA Processing and Human Cancer: DICER1 Cuts the Mustard (2011) (68)
Shared heritability and functional enrichment across six solid cancers (2018) (67)
Compromised BRCA1-PALB2 interaction is associated with breast cancer risk (2017) (66)
Fanconi anaemia: genetics, molecular biology, and cancer – implications for clinical management in children and adults (2015) (63)
Acquired FANCA dysfunction and cytogenetic instability in adult acute myelogenous leukemia. (2003) (62)
Familial rhabdoid tumour 'avant la lettre'—from pathology review to exome sequencing and back again (2013) (60)
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants (2020) (60)
Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers (2012) (60)
New paradigms for BRCA1/BRCA2 testing in women with ovarian cancer: results of the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) study (2016) (59)
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP (2019) (59)
Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers (2014) (58)
A common Fanconi anemia mutation in black populations of sub-Saharan Africa. (2005) (58)
RAD51C germline mutations in breast and ovarian cancer patients (2010) (55)
Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer (2019) (53)
CanRisk Tool—A Web Interface for the Prediction of Breast and Ovarian Cancer Risk and the Likelihood of Carrying Genetic Pathogenic Variants (2020) (51)
Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach (2008) (50)
Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study (2016) (49)
Pathology update to the Manchester Scoring System based on testing in over 4000 families (2017) (48)
Fanconi anaemia, BRCA2 mutations and childhood cancer: a developmental perspective from clinical and epidemiological observations with implications for genetic counselling (2013) (47)
Serum levels of mature microRNAs in DICER1-mutated pleuropulmonary blastoma (2014) (47)
Analysis of the gene coding for the BRCA2‐Interacting protein PALB2 in hereditary prostate cancer (2008) (47)
A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk. (2018) (45)
Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review. (2016) (44)
Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome (2020) (44)
Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome (2020) (44)
Support systems to guide clinical decision-making in precision oncology: The Cancer Core Europe Molecular Tumor Board Portal (2020) (44)
Genotype, extrapyramidal features, and severity of variant ataxia‐telangiectasia (2018) (44)
The basal phenotype of BRCA1-related breast cancer: past, present and future. (2006) (43)
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes (2018) (43)
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes (2018) (43)
Dermatological manifestations of inherited cancer syndromes in children (2011) (42)
Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families (2012) (41)
Small-Cell Carcinoma of the Ovary, Hypercalcemic Type–Genetics, New Treatment Targets, and Current Management Guidelines (2020) (41)
Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). (2020) (40)
Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women (2016) (39)
Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants (2022) (39)
Breast Cancer Family History and Contralateral Breast Cancer Risk in Young Women: An Update From the Women's Environmental Cancer and Radiation Epidemiology Study. (2018) (38)
Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome (2011) (37)
The tale of a nail sign in chromosome 4q34 deletion syndrome (2006) (37)
A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype (2015) (35)
Phase II trial of liposomal daunorubicin in malignant pleural mesothelioma. (2001) (35)
PTEN Hamartoma tumor syndrome in childhood: A review of the clinical literature (2019) (35)
Inherited cancer in children: practical/ethical problems and challenges. (2004) (35)
Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers (2020) (35)
International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation (2011) (34)
Homologous recombination DNA repair defects in PALB2-associated breast cancers (2019) (34)
Cancer incidence in relatives of British Fanconi Anaemia patients (2008) (34)
Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) (2021) (33)
Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness. (2019) (33)
Germline PALB2 mutation analysis in breast–pancreas cancer families (2011) (33)
Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus (2016) (32)
Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report (2019) (31)
Hormone receptor status of a first primary breast cancer predicts contralateral breast cancer risk in the WECARE study population (2017) (30)
p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer (2018) (30)
Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers (2014) (29)
An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers (2016) (28)
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data (2021) (28)
Germline whole exome sequencing and large-scale replication identifies FANCM as a likely high grade serous ovarian cancer susceptibility gene. (2017) (28)
A comparison of models used to predict MLH1, MSH2 and MSH6 mutation carriers. (2009) (28)
Evaluating clinician acceptability of the prototype CanRisk tool for predicting risk of breast and ovarian cancer: A multi-methods study (2020) (27)
The clinical presentation caused by truncating CHD8 variants (2019) (26)
Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer. (2008) (26)
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures (2018) (26)
Contribution of the PALB2 c.2323C>T [p.Q775X] Founder mutation in well-defined breast and/or ovarian cancer families and unselected ovarian cancer cases of French Canadian descent (2013) (25)
Analysis of the Novel Fanconi Anemia Gene SLX4/FANCP in Familial Breast Cancer Cases (2013) (25)
Low bone mass and high material bone density in two patients with Loeys‐Dietz syndrome caused by transforming growth factor beta receptor 2 mutations (2012) (25)
An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers (2015) (25)
The contribution of X-linked coding variation to severe developmental disorders (2020) (25)
Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma. (2019) (24)
Analysis of the genes coding for the BRCA1-interacting proteins, RAP80 and Abraxas (CCDC98), in high-risk, non-BRCA1/2, multiethnic breast cancer cases (2009) (24)
Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing (2012) (24)
Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada (2014) (23)
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes (2021) (22)
Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population (2015) (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)
Breast cancer risk variants at 6 q 25 display different phenotype associations and regulate ESR 1 , RMND 1 and CCDC 170 (2016) (22)
BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry (2019) (22)
Body mass index, weight change, and risk of second primary breast cancer in the WECARE study: influence of estrogen receptor status of the first breast cancer (2016) (21)
The association of mammographic density with risk of contralateral breast cancer and change in density with treatment in the WECARE study (2018) (21)
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)
The Basal Phenotype of BRCA1-Related Breast Cancer: Past, Present and Future (2006) (20)
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer (2019) (20)
Correction: BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors (2019) (20)
Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network (2020) (19)
Medulloblastoma as a First Presentation of Fanconi Anemia (2004) (19)
Rapid disease progression in a patient with mismatch repair-deficient and cortisol secreting adrenocortical carcinoma treated with pembrolizumab (2018) (18)
No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer. (2016) (18)
Amelogenesis imperfecta, sensorineural hearing loss, and Beau's lines: a second case report of Heimler's syndrome (1999) (18)
Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study (2018) (17)
19. MALE BREAST CANCER: AETIOLOGY, GENETICS AND CLINICAL MANAGEMENT (2002) (17)
Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study. (2018) (17)
Biallelic somatic SMARCA4 mutations in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) (2015) (17)
Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations (2020) (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)
The BRCA2 c.9004G>A (E2003K) variant is likely pathogenic and recurs in breast and/or ovarian cancer families of French Canadian descent (2011) (16)
Transcriptome-wide association study of breast cancer risk by estrogen-receptor status (2020) (16)
Germline whole exome sequencing and large-scale replication identifies FANCM as a likely high grade serous ovarian cancer susceptibility gene (2017) (16)
CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (2019) (16)
Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes (2022) (16)
Clonal hematopoiesis and therapy-related myeloid neoplasms following neuroblastoma treatment. (2021) (16)
Clinical implications of germline mutations in breast cancer genes: RECQL (2019) (16)
A comparison of methods currently used in clinical practice to estimate familial breast cancer risks. (2000) (16)
UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants (2020) (16)
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers (2021) (15)
Using mouse models to investigate the biological and physiological consequences of defects in the Fanconi anaemia/breast cancer DNA repair signalling pathway (2011) (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)
The Molecular Tumor Board Portal supports clinical decisions and automated reporting for precision oncology (2022) (15)
Biallelic mutations in PALB2 cause Fanconi anemia and predispose to childhood cancer (2007) (15)
PARTNER: Randomised, phase II/III trial to evaluate the safety and efficacy of the addition of olaparib to platinum-based neoadjuvant chemotherapy in triple negative and/or germline BRCA mutated breast cancer patients. (2017) (14)
Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2 (2013) (14)
Lymphocyte Telomere Length Is Long in BRCA1 and BRCA2 Mutation Carriers Regardless of Cancer-Affected Status (2014) (14)
High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families (2009) (14)
Comprehensive epithelial tubo-ovarian cancer risk prediction model incorporating genetic and epidemiological risk factors (2020) (14)
Radiation treatment, ATM, BRCA1/2, and CHEK2*1100delC pathogenic variants, and risk of contralateral breast cancer. (2020) (14)
A survey of APC mutations in Quebec (2011) (13)
Germ-line DICER1 mutations do not make a major contribution to the etiology of familial testicular germ cell tumours (2013) (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)
Universal BRCA1/BRCA2 Testing for Ovarian Cancer Patients is Welcomed, but with Care: How Women and Staff Contextualize Experiences of Expanded Access (2017) (12)
Breast cancer risk in women with PALB2 mutations in different populations. (2015) (12)
Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes (2018) (12)
Dermatological features of inherited cancer syndromes in adults (2010) (12)
Genetics of gynaecological cancers. (2017) (12)
Acinic cell carcinoma of the retromolar trigone region: expanding the tumor phenotype in Cowden syndrome? (2011) (12)
Evaluation of universal immunohistochemical screening of sebaceous neoplasms in a service setting (2018) (12)
Genetic Testing Considerations in Breast Cancer Patients (1999) (11)
Polygenic risk modeling for prediction of epithelial ovarian cancer risk (2022) (11)
pedigreejs: a web-based graphical pedigree editor (2017) (11)
A germline mosaic BRCA1 exon deletion in a woman with bilateral basal‐like breast cancer (2013) (11)
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)
Mutation analysis of the gene encoding the PALB2-binding protein MRG15 in BRCA1/2-negative breast cancer families (2010) (10)
Mutation analysis of the PALB2 cancer predisposition gene in familial melanoma (2011) (10)
Mutations in BRCA1 and BRCA2 and predisposition to prostate cancer (2003) (9)
Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe. (2021) (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)
BRCA1 and BRCA2 pathogenic variants and prostate cancer risk: systematic review and meta-analysis (2021) (9)
Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes (2019) (9)
Hereditary Diffuse Gastric Cancer: Approaches to Screening, Surveillance, and Treatment. (2020) (9)
Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores (2021) (9)
Use of the BOADICEA Web Application in clinical practice: appraisals by clinicians from various countries (2017) (9)
Psychosocial impact of undergoing prostate cancer screening for men with BRCA1 or BRCA2 mutations (2018) (9)
Characterization of renal cell carcinoma‐associated constitutional chromosome abnormalities by genome sequencing (2020) (8)
Enhancing the BOADICEA cancer risk prediction model to incorporate new data on RAD51C, RAD51D, BARD1 updates to tumour pathology and cancer incidence (2022) (8)
Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update (2022) (8)
Is there really an increased risk of early colorectal cancer in women with BRCA1 pathogenic mutations? (2016) (7)
Opportunities and challenges of next‐generation DNA sequencing for breast units (2014) (7)
Heterozygous mutations in the PALB2 hereditary breast cancer predisposition gene impact on the three‐dimensional nuclear organization of patient‐derived cell lines (2013) (7)
A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report (2021) (7)
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants. (2022) (7)
The use of panel testing in familial breast and ovarian cancer (2017) (7)
A systematic review of predicted pathogenic PALB2 variants: an analysis of mutational overlap between epithelial cancers (2019) (7)
Clinicians’ use of breast cancer risk assessment tools according to their perceived importance of breast cancer risk factors: an international survey (2018) (7)
A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene (2021) (6)
Autosomal dominant B‐cell immunodeficiency, distal limb anomalies and urogenital malformations (BILU syndrome) – report of a second family (2004) (6)
Pathogenic germline variants in patients with features of hereditary renal cell carcinoma: Evidence for further locus heterogeneity (2020) (6)
Publisher Correction: Personalized early detection and prevention of breast cancer: ENVISION consensus statement (2020) (6)
Prostate Cancer Risk by BRCA2 Genomic Regions (2020) (5)
Genetic testing in epithelial ovarian cancer (2017) (5)
Abstract P3-10-05: Preliminary safety data from stage 1 and 2 of the phase II/III PARTNER trial: Addition of olaparib to platinum-based neoadjuvant chemotherapy in triple negative and/or germline BRCA mutated breast cancer patients (2020) (4)
A ploidy-agnostic method for estimating telomere length from whole genome sequencing data. (2018) (4)
Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK). (2022) (4)
Vinorelbine (Navelbine) given as a single agent for malignant pleural mesothelioma. Results from 65 patients at a single centre (2000) (4)
MALTA (MYH9 ASSOCIATED ELASTIN AGGREGATION) SYNDROME: GERMLINE VARIANTS IN MYH9 CAUSE RARE SWEAT DUCT PROLIFERATIONS AND IRREGULAR ELASTIN AGGREGATIONS. (2019) (4)
Association of a Pathway-Specific Genetic Risk Score With Risk of Radiation-Associated Contralateral Breast Cancer (2019) (4)
Publisher Correction: Shared heritability and functional enrichment across six solid cancers (2019) (4)
Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer. (2020) (3)
Personalised Risk Prediction in Hereditary Breast and Ovarian Cancer: A Protocol for a Multi-Centre Randomised Controlled Trial (2022) (3)
Informed decision-making is the key in women at high risk of breast cancer. (2014) (3)
Genomic profiling of acute myeloid leukaemia associated with ataxia telangiectasia identifies a complex karyotype with wild‐type TP53 and mutant KRAS, G3BP1 and IL7R (2020) (3)
Cancer risks by sex and variant type in PTEN Hamartoma Tumor Syndrome. (2022) (3)
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD (2021) (3)
Spinal Hamartoma with Severe Kyphoscoliosis – A Rare Case of Spinal Mass in a Fetus (2008) (3)
Sporadic implementation of UK familial mammographic surveillance guidelines 15 years after original publication (2019) (3)
Mutation analysis of the Fanconi Anemia group A, C, E, F and G genes in sporadic acute myeloid leukemia. (2000) (3)
Muir Torre syndrome and MSH2 mutations: the importance of dermatological awareness (2006) (3)
Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer (2020) (3)
UK recommendations for SDHA germline genetic testing and surveillance in clinical practice (2022) (3)
A case-control study of the joint effect of reproductive factors and radiation treatment for first breast cancer and risk of contralateral breast cancer in the WECARE study (2020) (3)
Malignant Peripheral Nerve Sheath Tumor in Cowden Syndrome: A First Report (2015) (3)
Alagille syndrome and Wilson disease in siblings: a diagnostic conundrum. (2012) (2)
Jejunal atresia, periodic fevers and psoriatic arthropathy in Baraitser–Winter malformation syndrome (2017) (2)
Whole-genome sequencing of a sporadic primary immunodeficiency cohort (2020) (2)
Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases (2022) (2)
Abstract OT2-01-15: PARTNER - Randomised, phase II/III trial to evaluate the safety and efficacy of the addition of olaparib to platinum-based neoadjuvant chemotherapy in triple negative and/or germline BRCA mutated breast cancer patients (2017) (2)
Sporadic implementation of UK familial mammographic surveillance guidelines 15 years after original publication (2019) (2)
Endoscopic surveillance with systematic random biopsy for the early diagnosis of hereditary diffuse gastric cancer: a prospective 16-year longitudinal cohort study. (2022) (2)
Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer (2022) (2)
Germline Missense Variants in CDC20 Result in Aberrant Mitotic Progression and Familial Cancer (2021) (2)
Risk of developing a second primary cancer in male breast cancer survivors: a systematic review and meta-analysis (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)
The genetic analysis of a founder Northern American population of European descent identifies FANCI as a candidate familial ovarian cancer risk gene (2020) (2)
PALB2/FANCN, acteur dans la prédisposition au cancer du sein ? (2008) (2)
When to Consider Risk-Reducing Mastectomy in BRCA1/BRCA2 Mutation Carriers with Advanced Stage Ovarian Cancer: a Case Study Illustrating the Genetic Counseling Challenges (2017) (2)
A no-deal Brexit will be detrimental to people with rare diseases (2020) (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)
International Delphi consensus guidelines for follow-up after prophylactic total gastrectomy: the Life after Prophylactic Total Gastrectomy (LAP-TG) study (2022) (2)
PTU-145 Prophylactic total gastrectomy for hereditory gastric cancer syndrome (2015) (1)
Sweat duct proliferation associated with aggregation of elastic tissue and atrophodermia vermiculata: a simulator of microcystic adnexal carcinoma – a family with MALTA‐syndrome (2021) (1)
Clinicians’ use of breast cancer risk assessment tools according to their perceived importance of breast cancer risk factors: an international survey (2018) (1)
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers (2022) (1)
Proceedings of the 24th Annual Meeting of the Portuguese Society of Human Genetics (SPGH – Sociedade Portuguesa de Genética Humana) (2021) (1)
Abstract LB-89: Germ-line and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type (2014) (1)
phylogenetic approach identified mitochondrial haplogroup T 1 a 1 as inversely associated with breast cancer risk in BRCA 2 mutation carriers (2015) (1)
Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women (2016) (1)
Characterization of new Ashkenazi Jewish founder mutations in MSH6 causing Lynch syndrome. (2010) (1)
Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes- a collaborative multicentre endeavour within the project Solve-RD. (2022) (1)
Reply to Kratz et al. (2020) (1)
[A role for PALB2/FANCN in breast cancer predisposition?]. (2008) (1)
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (2019) (1)
Update: variable implementation of the 2018 UKCGG/UKGTN guidelines for breast cancer gene panel tests offered by UK genetics services (2021) (1)
Polygenic Risk Modelling for Prediction of Epithelial Ovarian Cancer Risk (2020) (1)
Caveat Emptor: The Perils of Panel Testing in Hereditary Breast Cancer. (2019) (1)
CanRisk-Prostate: A Comprehensive, Externally Validated Risk Model for the Prediction of Future Prostate Cancer (2022) (1)
PO-061 Exploring heritable predisposition to paediatric rhabdomyosarcomas (2018) (1)
Penetrance estimates for BRCA1, BRCA2 (also applied to Lynch syndrome) based on presymptomatic testing: a new unbiased method to assess risk? (2018) (1)
Publisher Correction: Homologous recombination DNA repair defects in PALB2-associated breast cancers (2019) (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)
Selected abstracts submitted to the Third International Symposium on Hereditary Breast and Ovarian Cancer (2009) (1)
Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada (2014) (1)
Author Correction: The Molecular Tumor Board Portal supports clinical decisions and automated reporting for precision oncology (2022) (1)
Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk (2022) (1)
Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2 (2013) (1)
Extending the Benign and Malignant Phenotypes Associated with Germline DICER1 Mutations. (2011) (1)
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort (2020) (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)
Erratum: Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: An international prospective cohort of BRCA1 and BRCA2 mutation carriers (Breast Cancer Res (2020) 22 (8) DOI: 10.1186/s13058-020-1247-4) (2020) (1)
PALB2/FANCN, dans la prédisposition au cancer du sein ? (2008) (0)
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes (2020) (0)
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes (2020) (0)
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP (2019) (0)
A systematic review of predicted pathogenic PALB2 variants: an analysis of mutational overlap between epithelial cancers (2019) (0)
Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers (2021) (0)
“We can talk about it. We can joke about it, you know, which is nice”: Tensions surrounding (in)directness in talk about death and dying involving women with ovarian cancer (2017) (0)
Erratum: Correction to: Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers (Breast cancer research : BCR (2020) 22 1 (8)) (2020) (0)
Correction: BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors (2019) (0)
P061: ATM and PALB2 variant curation guidelines progress update: ClinGen Hereditary Breast, Ovarian, and Pancreatic Cancer Variant Curation Expert Panel (2023) (0)
CYP2D6 phenotype, tamoxifen, and risk of contralateral breast cancer in the WECARE Study (2018) (0)
Research data supporting: Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study (2018) (0)
An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers (2015) (0)
The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome (2019) (0)
Correction to: Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers (2020) (0)
The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome (2019) (0)
Hormone receptor status of a first primary breast cancer predicts contralateral breast cancer risk in the WECARE study population (2017) (0)
Are Fanconi Anaemia genes inactivated in sporadic acute myeloid leukemia (2002) (0)
Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update (2022) (0)
Association of breast cancer risk in BRCA 1 and BRCA 2 mutation carriers with genetic variants showing differential allelic expression (2016) (0)
Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus (2016) (0)
Analysis of Fanconi Anemia gene inactivation in sporadic squamous cell carcinoma of the head and neck. (2002) (0)
Abstract 2975: Two putative founder MSH6 mutations associated with inherited cancer susceptibility in Ashkenazi Jewish population (2010) (0)
Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes (2018) (0)
Title : Use of Immunohistochemical Markers can Refine Prognosis in Triple Negative Breast Cancer (2007) (0)
Author ' s response to reviews Use of Immunohistochemical Markers can Refine Prognosis in Triple Negative Breast Cancer (2007) (0)
Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene (2023) (0)
Polygenic risk modeling for prediction of epithelial ovarian cancer risk (2022) (0)
Author ' s response to reviews Use of Immunohistochemical Markers can Refine Prognosis in Triple Negative Breast Cancer (2007) (0)
University of Groningen DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers Osorio, (2014) (0)
Polygenic risk modeling for prediction of epithelial ovarian cancer risk (2022) (0)
Prostate Cancer Interim Results from the IMPACT Study : Evidence for Prostate-specific Antigen Screening in BRCA 2 Mutation Carriers (2019) (0)
sub-Saharan Africa A common Fanconi anemia mutation in black populations of (2013) (0)
Shared heritability and functional enrichment across six solid cancers (2019) (0)
UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2 (2022) (0)
Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2. (2023) (0)
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data (2021) (0)
Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk (2022) (0)
A new reason not to smoke. (1997) (0)
Quantitative evidence evaluation for singleton rare missense variants in rare distinctive adult-onset phenotypes: the exemplar of SDHB and SDHD (2021) (0)
Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk (2022) (0)
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer (2019) (0)
Corrections to: Use of the BOADICEA Web Application in clinical practice: appraisals by clinicians from various countries (2017) (0)
Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study (2018) (0)
Germ-line DICER1 mutations do not make a major contribution to the etiology of familial testicular germ cell tumours (2013) (0)
The utility of genetic testing in the diagnosis of familial Mediterranean fever. (2008) (0)
A homozygous PMS 2 founder mutation with an attenuated constitutional mismatch repair de fi ciency phenotype (2015) (0)
Erratum to: The BRCA2 c.9004G>A (E3002K) variant is likely pathogenic and recurs in breast and/or ovarian cancer families of French Canadian descent (2011) (0)
Multilocus Inherited Neoplasia Alleles Syndrome (MINAS): Case Series and Literature Review (2015) (0)
Correction to: Clinicians’ use of breast cancer risk assessment tools according to their perceived importance of breast cancer risk factors: an international survey (2019) (0)
Abstract 988: Long-term health outcomes of bilateral salpingo-oophorectomy in women with personal history of breast cancer (2023) (0)
Proactive breast cancer risk assessment in primary care: a review based on the principles of screening (2023) (0)
Whole-genome sequencing of patients with rare diseases in a national health system (2020) (0)
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants (2021) (0)
'Well, we can talk about it. We can joke about it, which is nice': Indirectness in talk about end-of-life involving women with ovarian cancer (2017) (0)
Homologous recombination DNA repair defects in PALB2-associated breast cancers (2019) (0)
Mendelian randomization analysis of red cell distribution width in pulmonary arterial hypertension (2019) (0)
Genetics and population analysis pedigreejs: a web-based graphical pedigree editor (2017) (0)
Proffered papers and posters submitted to the Fifth International Symposium on Hereditary Breast and Ovarian Cancer, BRCA : Twenty Years of Advances (2014) (0)
Familial gonadal tumours. (1998) (0)
The Presenilin-1 Mutation Leu173Trp Is Associated with Very Early-Onset Alzheimer's Disease and Progressive Myoclonic Epilepsy (P05.068) (2012) (0)
Risks of second non-breast primaries following breast cancer in women: a systematic review and meta-analysis (2023) (0)
Correction to: Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers (2020) (0)
This Provisional PDF corresponds to the article as it appeared upon acceptance. Copyedited and fully formatted PDF and full text (HTML) versions will be made available soon. (2010) (0)
Breast-Cancer Risk in Families With Mutations in PALB2 EDITORIAL COMMENT (2014) (0)
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (2018) (0)
Abstract CT562: PARTNER: Randomised, phase II/III trial to evaluate the safety and efficacy of the addition of Olaparib to Platinum-based neoadjuvant chemotherapy in triple negative and/or germline BRCA mutated breast cancer patients (2022) (0)
Abstract 3057: Second primary cancer risks for female and male breast cancer survivors (2023) (0)
TITLE : Incorporating Truncating Variants in PALB 2 , CHEK 2 and ATM into the BOADICEA Breast Cancer Risk Model SHORT TITLE : Rare Variants in the BOADICEA Breast Cancer Risk Model Authorship (2016) (0)
Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses (2020) (0)
The Contribution of Germline Pathogenic Variants in Breast Cancer Genes to Contralateral Breast Cancer Risk in BRCA1/BRCA2/PALB2-Negative Women (2023) (0)
Support systems to guide clinical decision-making in precision oncology: The Cancer Core Europe Molecular Tumor Board Portal (2020) (0)
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (2019) (0)
OP-JNCI200033 1275..1278 (2020) (0)
Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer (2019) (0)
Abstract 2470: Compromised BRCA1-PALB2 interaction is associated with breast cancer risk (2017) (0)
The Genomic Landscape of PALB2-Associated Breast Cancers (2017) (0)
Author's response to reviews Title: Use of Immunohistochemical Markers can Refine Prognosis in Triple Negative Breast Cancer Authors: (2007) (0)
Phase I I S tudy o f V inorelbine i n P atients W ith M alignant Pleural M esothelioma (2000) (0)
Author's response to reviews Title: Use of Immunohistochemical Markers can Refine Prognosis in Triple Negative Breast Cancer Authors: (2007) (0)
2018-1105 CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (2019) (0)
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (2019) (0)
PARTNER: A randomized, phase II/III trial to evaluate the safety and efficacy of the addition of olaparib to platinum-based neoadjuvant chemotherapy in patients with triple-negative and/or germline BRCA-mutated breast cancer. (2022) (0)
Abstract OT3-03-03: PARTNER: Randomised, phase II/III trial to evaluate the safety and efficacy of the addition of olaparib to platinum-based neoadjuvant chemotherapy in triple negative and/or germline BRCA mutated breast cancer patients (2019) (0)
Screening Those at High Risk for Colorectal Cancer (2004) (0)
Harnessing national pan-laboratory data for accurate quantitation of PS4 in cancer susceptibility genes: Cancer Variant Interpretation Group UK (CanVIG-UK) (2021) (0)
The Ten Year Experience of A Regional Specialist Gynaecology Cancer Genetics Clinic with Lynch Syndrome (2017) (0)
Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers (2014) (0)
BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors (2019) (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)
Investigating the clinical, pathological and molecular profile of oncocytic adrenocortical neoplasms (2021) (0)
Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model (2022) (0)
Abstract P2-03-01: Mutational landscape of breast cancers from PALB2 germline mutation carriers (2016) (0)
University of Groningen Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk Couch, (2013) (0)
PARTNER/PARTNERING: BRCA positive and Triple Negative Breast Cancer Phase II poor responders sub-study to establish if post-neoadjuvant, pre-surgical addition of novel therapies improves pathological outcome at surgery (2020) (0)
A primer on familial cancer genetics (2020) (0)
myelogenous leukemia Acquired FANCA dysfunction and cytogenetic instability in adult acute (2013) (0)
Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain significance (2021) (0)
prevalence of Fanconi anemia in Gypsy families from Spain A common founder mutation in FANCA underlies the world's highest (2013) (0)
Corrections to: Use of the BOADICEA Web Application in clinical practice: appraisals by clinicians from various countries (2017) (0)
Edinburgh Research Explorer Multilocus Inherited Neoplasia Alleles Syndrome (MINAS): Case Series and Literature Review (2018) (0)
Publisher Correction: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data (2018) (0)
A comparison of the yield from endoscopic surveillance in detecting early gastric cancer in CDH1+ve versus CDH1−ve HDGC families (2016) (0)
Use of the BOADICEA breast cancer risk prediction tool in clinical practice: Appraisals across clinicians from various countries (2017) (0)
Second primary cancer risks for female and male breast cancer survivors in England (2022) (0)
DICER1 mutations characterize a novel syndrome with endocrine features (2012) (0)
A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene (2021) (0)
Abstract OT2-24-01: PARTNER: Randomised, phase II/III trial to evaluate the safety and efficacy of the addition of olaparib to platinum-based neoadjuvant chemotherapy in triple negative and/or germline BRCA mutated breast cancer patients (2022) (0)
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data (2018) (0)
Lynch/Turcot Syndrome and Sporadic Mismatch Repair Deficient High-Grade Gliomas – A Case Series (2022) (0)
Publisher Correction: Homologous recombination DNA repair defects in PALB2-associated breast cancers (2019) (0)
Exploring the barriers and facilitators of implementing CanRisk in primary care: a qualitative thematic framework analysis (2023) (0)
Use of the BOADICEA Web Application in clinical practice: appraisals by clinicians from various countries (2017) (0)
The association of mammographic density with risk of contralateral breast cancer and change in density with treatment in the WECARE study (2018) (0)
Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer (2022) (0)
Letter from the New Editor in Chief (2019) (0)

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