Susan Domchek
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Oncologist
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Philosophy
Susan Domchek's Degrees
- Doctorate Medicine Johns Hopkins University
- PhD Genetics Johns Hopkins University
Why Is Susan Domchek Influential?
(Suggest an Edit or Addition)According to Wikipedia, Susan M. Domchek is an oncologist at the University of Pennsylvania, Executive Director of the Basser Center for BRCA, the Basser Professor in Oncology at the Perelman School of Medicine, and Director of the Mariann and Robert MacDonald Cancer Risk Evaluation Program at Penn Medicine. She has authored more than 250 articles in scholarly journals and serves on a number of editorial review boards. In 2018, Domchek was elected to the National Academy of Medicine.
Susan Domchek'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
- Olaparib monotherapy in patients with advanced cancer and a germline BRCA1/2 mutation. (2015) (1434)
- Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial (2010) (1217)
- Olaparib for Metastatic Breast Cancer in Patients with a Germline BRCA Mutation (2017) (1086)
- Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. (2010) (1008)
- Meta-analysis of Risk Reduction Estimates Associated With Risk-Reducing Salpingo-oophorectomy in BRCA1 or BRCA2 Mutation Carriers (2009) (778)
- Gene-panel sequencing and the prediction of breast-cancer risk. (2015) (747)
- Central nervous system metastases in women who receive trastuzumab‐based therapy for metastatic breast carcinoma (2003) (687)
- American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility. (2010) (638)
- 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)
- 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)
- 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)
- Adjuvant Olaparib for Patients with BRCA1- or BRCA2-Mutated Breast Cancer. (2021) (398)
- Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. (2015) (390)
- Multidisciplinary meeting on male breast cancer: summary and research recommendations. (2010) (386)
- Cancer yield of mammography, MR, and US in high-risk women: prospective multi-institution breast cancer screening study. (2007) (369)
- Breast-cancer risk in families with mutations in PALB2. (2014) (367)
- 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)
- Breast cancer risk among male BRCA1 and BRCA2 mutation carriers. (2007) (348)
- Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology. (2021) (346)
- International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers (2008) (336)
- Mortality after bilateral salpingo-oophorectomy in BRCA1 and BRCA2 mutation carriers: a prospective cohort study. (2006) (328)
- CDK 4/6 Inhibitor Palbociclib (PD0332991) in Rb+ Advanced Breast Cancer: Phase II Activity, Safety, and Predictive Biomarker Assessment (2014) (302)
- CD25 Blockade Depletes and Selectively Reprograms Regulatory T Cells in Concert with Immunotherapy in Cancer Patients (2012) (283)
- NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020. (2020) (281)
- RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies. (2007) (276)
- Counselling framework for moderate-penetrance cancer-susceptibility mutations (2016) (264)
- Tremelimumab in Combination with Exemestane in Patients with Advanced Breast Cancer and Treatment-Associated Modulation of Inducible Costimulator Expression on Patient T Cells (2010) (262)
- Vaccination of Cancer Patients Against Telomerase Induces Functional Antitumor CD8+ T Lymphocytes (2004) (252)
- A Population-Based Study of Genes Previously Implicated in Breast Cancer. (2021) (250)
- Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer (2017) (244)
- Reproductive risk factors for ovarian cancer in carriers of BRCA1 or BRCA2 mutations: a case-control study. (2007) (243)
- Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. (2008) (238)
- Efficacy and safety of olaparib monotherapy in germline BRCA1/2 mutation carriers with advanced ovarian cancer and three or more lines of prior therapy. (2016) (230)
- Targeted Prostate Cancer Screening in BRCA1 and BRCA2 Mutation Carriers: Results from the Initial Screening Round of the IMPACT Study (2014) (222)
- Predictors of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers (2011) (213)
- Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers (2017) (211)
- Multiplex genetic testing for cancer susceptibility: out on the high wire without a net? (2013) (209)
- Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations (2018) (206)
- BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers (2017) (202)
- Application of breast cancer risk prediction models in clinical practice. (2003) (198)
- Modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: systematic review and meta-analysis. (2014) (198)
- Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction. (2010) (196)
- Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families. (2019) (196)
- Lymphomas of the breast (2002) (193)
- Predictors of contralateral prophylactic mastectomy in women with a BRCA1 or BRCA2 mutation: the Hereditary Breast Cancer Clinical Study Group. (2008) (182)
- Phase II trial of the oral PARP inhibitor olaparib in BRCA-deficient advanced breast cancer. (2009) (181)
- Olaparib and durvalumab in patients with germline BRCA-mutated metastatic breast cancer (MEDIOLA): an open-label, multicentre, phase 1/2, basket study. (2020) (181)
- Identification of six new susceptibility loci for invasive epithelial ovarian cancer (2014) (176)
- Interplay between BRCA1 and RHAMM Regulates Epithelial Apicobasal Polarization and May Influence Risk of Breast Cancer (2011) (174)
- A Phase I–II Study of the Oral PARP Inhibitor Rucaparib in Patients with Germline BRCA1/2-Mutated Ovarian Carcinoma or Other Solid Tumors (2017) (171)
- Local therapy in BRCA1 and BRCA2 mutation carriers with operable breast cancer: comparison of breast conservation and mastectomy (2010) (169)
- Uterine Cancer After Risk-Reducing Salpingo-oophorectomy Without Hysterectomy in Women With BRCA Mutations. (2016) (168)
- TBCRC 048: Phase II Study of Olaparib for Metastatic Breast Cancer and Mutations in Homologous Recombination-Related Genes. (2020) (167)
- Variants at 6q21 implicate PRDM1 in the etiology of therapy-induced second malignancies after Hodgkin's lymphoma (2011) (156)
- Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer (2010) (154)
- RE: Breast Cancer Risk After Salpingo-Oophorectomy in Healthy BRCA1/2 Mutation Carriers: Revisiting the Evidence for Risk Reduction. (2015) (152)
- Veliparib with temozolomide or carboplatin/paclitaxel versus placebo with carboplatin/paclitaxel in patients with BRCA1/2 locally recurrent/metastatic breast cancer: randomized phase II study (2018) (149)
- OlympiAD final overall survival and tolerability results: Olaparib versus chemotherapy treatment of physician's choice in patients with a germline BRCA mutation and HER2-negative metastatic breast cancer. (2019) (149)
- Immunotherapy for Breast Cancer: What Are We Missing? (2017) (146)
- Phosphatidylinositol 3-kinase p85 SH2 domain specificity defined by direct phosphopeptide/SH2 domain binding. (1993) (143)
- 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)
- Factors determining dissemination of results and uptake of genetic testing in families with known BRCA1/2 mutations. (2008) (136)
- Olaparib monotherapy in patients with advanced relapsed ovarian cancer and a germline BRCA1/2 mutation: a multistudy analysis of response rates and safety. (2016) (136)
- Rucaparib Monotherapy in Patients With Pancreatic Cancer and a Known Deleterious BRCA Mutation. (2018) (135)
- Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing (2016) (134)
- BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2 (2018) (131)
- Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2 negative patients with early onset breast cancer (2014) (129)
- Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers (2019) (129)
- Predictors of skeletal complications in patients with metastatic breast carcinoma (2000) (128)
- Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. (2009) (124)
- Inhibition of SH2 domain/phosphoprotein association by a nonhydrolyzable phosphonopeptide. (1992) (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)
- Health Care Segregation, Physician Recommendation, and Racial Disparities in BRCA1/2 Testing Among Women With Breast Cancer. (2016) (115)
- PALB2 mutations in familial breast and pancreatic cancer (2011) (115)
- An open-label, phase II basket study of olaparib and durvalumab (MEDIOLA): Results in germline BRCA -mutated ( gBRCA m) platinum-sensitive relapsed (PSR) ovarian cancer (OC) (2018) (113)
- DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers (2014) (112)
- Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses (2019) (110)
- Proceedings of the International Consensus Conference on Breast Cancer Risk, Genetics, & Risk Management, April, 2007 (2008) (109)
- The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer families. (2008) (108)
- Screening mammography and risk of breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study. (2006) (107)
- Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. (2016) (107)
- Population Frequency of Germline BRCA1/2 Mutations. (2016) (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)
- The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk (2017) (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)
- 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)
- A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity. (2013) (98)
- Telomerase-specific T-cell immunity in breast cancer: effect of vaccination on tumor immunosurveillance. (2007) (96)
- Early Detection of Ovarian Cancer using the Risk of Ovarian Cancer Algorithm with Frequent CA125 Testing in Women at Increased Familial Risk – Combined Results from Two Screening Trials (2017) (95)
- Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer (2016) (95)
- BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk (2012) (94)
- Platinum response characteristics of patients with pancreatic ductal adenocarcinoma and a germline BRCA1, BRCA2 or PALB2 mutation (2019) (93)
- 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)
- Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers (2010) (90)
- Risk of ipsilateral breast cancer in BRCA1 and BRCA2 mutation carriers (2011) (85)
- Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2 (2016) (84)
- Noninvasive Measures of Ventricular-Arterial Coupling and Circumferential Strain Predict Cancer Therapeutics-Related Cardiac Dysfunction. (2016) (83)
- Bilateral prophylactic oophorectomy and bilateral prophylactic mastectomy in a prospective cohort of unaffected BRCA1 and BRCA2 mutation carriers. (2007) (83)
- Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers. (2011) (82)
- Breast cancer in young women (2010) (82)
- Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification (2019) (82)
- The use of the Gail model, body mass index and SNPs to predict breast cancer among women with abnormal (BI-RADS 4) mammograms (2015) (81)
- Prescription of tamoxifen for breast cancer prevention by primary care physicians. (2006) (80)
- Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D (2020) (80)
- Patients' resistance to risk information in genetic counseling for BRCA1/2. (2005) (79)
- Pathology of Breast andOvarian Cancers among BRCA 1 and BRCA 2 Mutation Carriers : Results from the Consortium of Investigators of Modi fi ers of BRCA 1 / 2 ( CIMBA ) (2011) (78)
- Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers. (2010) (77)
- BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers. (2016) (76)
- The CYP1A2 Genotype Modifies the Association Between Coffee Consumption and Breast Cancer Risk Among BRCA1 Mutation Carriers (2007) (76)
- Utilizing Remote Real-Time Videoconferencing to Expand Access to Cancer Genetic Services in Community Practices: A Multicenter Feasibility Study (2016) (74)
- Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes (2019) (74)
- A genome-wide association study of breast cancer in women of African ancestry (2012) (74)
- Evaluation of 19 susceptibility loci of breast cancer in women of African ancestry. (2012) (72)
- Cancer treatment according to BRCA1 and BRCA2 mutations (2012) (72)
- Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer (2017) (70)
- Long-term reactions to genetic testing for BRCA1 and BRCA2 mutations: does time heal women's concerns? (2011) (70)
- Development of a tiered and binned genetic counseling model for informed consent in the era of multiplex testing for cancer susceptibility (2014) (70)
- Arginine-Nitric Oxide Metabolites and Cardiac Dysfunction in Patients With Breast Cancer. (2017) (70)
- Changes in Cardiovascular Biomarkers With Breast Cancer Therapy and Associations With Cardiac Dysfunction (2019) (68)
- Exercise lowers estrogen and progesterone levels in premenopausal women at high risk of breast cancer. (2011) (68)
- Prophylactic oophorectomy in women at increased cancer risk (2007) (66)
- Low rates of acceptance of BRCA1 and BRCA2 test results among African American women at increased risk for hereditary breast-ovarian cancer (2006) (63)
- Occult ovarian cancers identified at risk-reducing salpingo-oophorectomy in a prospective cohort of BRCA1/2 mutation carriers (2010) (63)
- Phase II study of olaparib + durvalumab (MEDIOLA): Updated results in germline BRCA-mutated platinum-sensitive relapsed (PSR) ovarian cancer (OC) (2019) (63)
- Association of a Polygenic Risk Score With Breast Cancer Among Women Carriers of High- and Moderate-Risk Breast Cancer Genes (2020) (62)
- Satisfaction with genetic counseling for BRCA1 and BRCA2 mutations among African American women. (2006) (61)
- Clinical management of BRCA1 and BRCA2 mutation carriers (2006) (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)
- Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers (2014) (58)
- Use of risk-reducing surgeries in a prospective cohort of 1,499 BRCA1 and BRCA2 mutation carriers (2014) (58)
- Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus (2016) (58)
- Comprehensive Assessment of Changes in Left Ventricular Diastolic Function With Contemporary Breast Cancer Therapy. (2020) (57)
- Large Prospective Study of Ovarian Cancer Screening in High-Risk Women: CA125 Cut-Point Defined by Menopausal Status (2011) (57)
- Proceedings from the 9th annual conference on the science of dissemination and implementation (2017) (57)
- Modification of BRCA1-Associated Breast and Ovarian Cancer Risk by BRCA1-Interacting Genes. (2011) (57)
- Reproductive Decision-Making in Women with BRCA1/2 Mutations (2017) (56)
- Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. (2011) (55)
- Traceback: A Proposed Framework to Increase Identification and Genetic Counseling of BRCA1 and BRCA2 Mutation Carriers Through Family-Based Outreach. (2017) (54)
- Genomic Signatures Predict the Immunogenicity of BRCA-Deficient Breast Cancer (2019) (54)
- Genome-wide association studies in women of African ancestry identified 3q26.21 as a novel susceptibility locus for oestrogen receptor negative breast cancer. (2016) (54)
- Quantitative assessment of background parenchymal enhancement in breast MRI predicts response to risk-reducing salpingo-oophorectomy: preliminary evaluation in a cohort of BRCA1/2 mutation carriers (2015) (53)
- Association of the Variants CASP8 D302H and CASP10 V410I with Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers (2010) (53)
- Clinical management of BRCA1 and BRCA2 mutation carriers (2006) (53)
- Patient-reported outcomes in patients with a germline BRCA mutation and HER2-negative metastatic breast cancer receiving olaparib versus chemotherapy in the OlympiAD trial. (2019) (52)
- Risk of metachronous breast cancer after BRCA mutation–associated ovarian cancer (2013) (51)
- Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers (2007) (50)
- Recruiting African American women to participate in hereditary breast cancer research. (2005) (49)
- Patient feedback and early outcome data with a novel tiered-binned model for multiplex breast cancer susceptibility testing (2015) (49)
- Knowledge, attitudes, and utilization of BRCA1/2 testing among women with early-onset breast cancer. (2005) (48)
- Abstract PD6-11: An open-label, multitumor, phase II basket study of olaparib and durvalumab (MEDIOLA): Results in germline BRCA-mutated (gBRCAm) HER2-negative metastatic breast cancer (MBC) (2018) (48)
- Phase II Study of Maintenance Rucaparib in Patients With Platinum-Sensitive Advanced Pancreatic Cancer and a Pathogenic Germline or Somatic Variant in BRCA1, BRCA2, or PALB2 (2021) (48)
- Antimüllerian hormone levels are lower in BRCA2 mutation carriers. (2017) (47)
- Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers (2012) (47)
- Phase II trial of the oral PARP inhibitor olaparib in BRCA-deficient advanced breast cancer. (2009) (46)
- Stumbling blocks on the path to personalized medicine in breast cancer: the case of PARP inhibitors for BRCA1/2-associated cancers. (2011) (46)
- Genetic variants of uncertain significance: flies in the ointment. (2008) (46)
- A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk. (2018) (45)
- OlympiAD: Phase III trial of olaparib monotherapy versus chemotherapy for patients (pts) with HER2-negative metastatic breast cancer (mBC) and a germline BRCA mutation (gBRCAm). (2017) (44)
- Contraceptive use and the role of contraceptive counseling in reproductive-aged women with cancer. (2014) (44)
- Multiplex genetic testing: reconsidering utility and informed consent in the era of next-generation sequencing (2014) (43)
- Clinical Management of Hereditary Breast Cancer Syndromes (2011) (43)
- Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers. (2011) (42)
- Impact of shortages of injectable oncology drugs on patient care. (2014) (42)
- Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women. (2020) (42)
- Olaparib for Metastatic Germline BRCA-Mutated Breast Cancer. (2017) (42)
- Predicting BRCA1 and BRCA2 gene mutation carriers: comparison of PENN II model to previous study (2010) (42)
- Collapse of the CD27+ B-Cell Compartment Associated with Systemic Plasmacytosis in Patients with Advanced Melanoma and Other Cancers (2009) (41)
- Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer (2020) (41)
- Clinically relevant changes in family history of cancer over time. (2011) (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)
- A randomized Phase II study of veliparib with temozolomide or carboplatin/paclitaxel versus placebo with carboplatin/paclitaxel in BRCA1/2 metastatic breast cancer: design and rationale (2016) (39)
- 814MO Phase II study of olaparib (O) plus durvalumab (D) and bevacizumab (B) (MEDIOLA): Initial results in patients (pts) with non-germline BRCA-mutated (non-gBRCAm) platinum sensitive relapsed (PSR) ovarian cancer (OC) (2020) (39)
- A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer. (2016) (39)
- Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women (2016) (39)
- Modification of ovarian cancer risk by BRCA1/2-interacting genes in a multicenter cohort of BRCA1/2 mutation carriers. (2009) (39)
- Telomerase vaccination has no detectable effect on SCID-repopulating and colony-forming activities in the bone marrow of cancer patients. (2005) (39)
- Retrospective Survival Analysis of Patients With Advanced Pancreatic Ductal Adenocarcinoma and Germline BRCA or PALB2 Mutations. (2018) (38)
- Multicenter Phase II Study of Lurbinectedin in BRCA-Mutated and Unselected Metastatic Advanced Breast Cancer and Biomarker Assessment Substudy (2018) (38)
- TBCRC 048: A phase II study of olaparib monotherapy in metastatic breast cancer patients with germline or somatic mutations in DNA damage response (DDR) pathway genes (Olaparib Expanded). (2020) (38)
- Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers (2015) (37)
- Phase II study of olaparib (O) and durvalumab (D) (MEDIOLA): Updated results in patients (pts) with germline BRCA-mutated (gBRCAm) metastatic breast cancer (MBC) (2019) (37)
- Homeostasis of peripheral FoxP3+ CD4+ regulatory T cells in patients with early and late stage breast cancer (2010) (37)
- AURKA F31I Polymorphism and Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers: A Consortium of Investigators of Modifiers of BRCA1/2 Study (2007) (37)
- Melanoma Genetic Testing, Counseling, and Adherence to Skin Cancer Prevention and Detection Behaviors (2013) (37)
- RUCAPANC: An open-label, phase 2 trial of the PARP inhibitor rucaparib in patients (pts) with pancreatic cancer (PC) and a known deleterious germline or somatic BRCA mutation. (2016) (37)
- A functionally significant SNP in TP53 and breast cancer risk in African-American women (2017) (36)
- Evaluation of established breast cancer risk factors as modifiers of BRCA1 or BRCA2: a multi-center case-only analysis (2010) (36)
- Breast cancer screening behaviors among African American women with a strong family history of breast cancer. (2006) (36)
- Understanding participation by African Americans in cancer genetics research. (2012) (36)
- Dose–response effects of aerobic exercise on estrogen among women at high risk for breast cancer: a randomized controlled trial (2015) (35)
- Olaparib monotherapy in patients with advanced cancer and a germ-line BRCA1/2 mutation: An open-label phase II study. (2013) (35)
- Evaluation of anemia, neutropenia and skin toxicities in standard or dose-dense doxorubicin/cyclophosphamide (AC)-paclitaxel or docetaxel adjuvant chemotherapy in breast cancer. (2005) (35)
- Baseline Immunoglobulin E Levels as a Marker of Doxorubicin- and Trastuzumab-Associated Cardiac Dysfunction. (2016) (35)
- Exercise-Induced Dose-Response Alterations in Adiponectin and Leptin Levels Are Dependent on Body Fat Changes in Women at Risk for Breast Cancer (2016) (34)
- Low Rates of African American Participation in Genetic Counseling and Testing for BRCA1/2 Mutations: Racial Disparities or Just a Difference? (2012) (34)
- Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers. (2012) (34)
- Adjuvant ovarian function suppression and cognitive function in women with breast cancer (2016) (33)
- Smoking and the risk of breast cancer in BRCA1 and BRCA2 carriers: an update (2009) (33)
- Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness. (2019) (33)
- Therapeutic approaches for women predisposed to breast cancer. (2011) (33)
- Olaparib versus chemotherapy treatment of physician’s choice in patients with a germline BRCA mutation and HER2-negative metastatic breast cancer (OlympiAD): Efficacy in patients with visceral metastases. (2018) (33)
- Quality of life in long-term survivors of metastatic breast cancer. (2012) (33)
- 2746 A Phase 2 open-label, multicenter study of single-agent rucaparib in the treatment of patients with relapsed ovarian cancer and a deleterious BRCA mutation (2015) (32)
- Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus (2016) (32)
- Role of Engrailed-2 (EN2) as a prostate cancer detection biomarker in genetically high risk men (2013) (32)
- Proceedings of the 8th Annual Conference on the Science of Dissemination and Implementation (2016) (32)
- Effect of Genetic Counseling and Testing for BRCA1 and BRCA2 Mutations in African American Women: A Randomized Trial (2010) (32)
- Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers (2010) (31)
- NCCN CLINICAL PRACTICE GUIDELINES IN ONCOLOGY Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021 (2020) (31)
- 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)
- Alcohol consumption and the risk of breast cancer among BRCA1 and BRCA2 mutation carriers. (2010) (31)
- Breast MRI fibroglandular volume and parenchymal enhancement in BRCA1 and BRCA2 mutation carriers before and immediately after risk-reducing salpingo-oophorectomy. (2015) (31)
- Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report (2019) (31)
- Randomized Noninferiority Trial of Telephone vs In-Person Disclosure of Germline Cancer Genetic Test Results (2018) (30)
- An open-label, phase II basket study of olaparib and durvalumab (MEDIOLA): Results in patients with relapsed gastric cancer. (2019) (30)
- Combination Paclitaxel and Palbociclib: Results of a Phase I Trial in Advanced Breast Cancer (2019) (29)
- Frequency of radiation-induced malignancies post-adjuvant radiotherapy for breast cancer in patients with Li-Fraumeni syndrome (2020) (29)
- Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers (2014) (29)
- Bilateral risk-reducing oophorectomy in BRCA1 and BRCA2 mutation carriers. (2006) (28)
- An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers (2016) (28)
- Breast cancer predisposition syndromes. (2010) (28)
- Abstract CT234: A Phase II, single arm study of maintenance rucaparib in patients with platinum-sensitive advanced pancreatic cancer and a pathogenic germline or somatic mutation inBRCA1, BRCA2orPALB2 (2019) (28)
- Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA) (2009) (28)
- Fine mapping of breast cancer genome-wide association studies loci in women of African ancestry identifies novel susceptibility markers. (2013) (28)
- Proceedings of the International Consensus Conference on Breast Cancer Risk, Genetics, & Risk Management, April, 2007 (2009) (27)
- Breast reconstruction in bilateral prophylactic mastectomy patients: factors that influence decision making. (2012) (27)
- Long-term risk of medical conditions associated with breast cancer treatment (2014) (27)
- Childhood cancer in families with and without BRCA1 or BRCA2 mutations ascertained at a high-risk breast cancer clinic (2006) (27)
- Homologous recombination deficiency and host anti-tumor immunity in triple-negative breast cancer (2018) (27)
- The tubal hypothesis of ovarian cancer: caution needed. (2011) (27)
- Development and Validation of a Clinical Polygenic Risk Score to Predict Breast Cancer Risk (2020) (26)
- Risk of Breast Cancer Among Carriers of Pathogenic Variants in Breast Cancer Predisposition Genes Varies by Polygenic Risk Score (2021) (26)
- Identification and Confirmation of Potentially Actionable Germline Mutations in Tumor-Only Genomic Sequencing. (2019) (26)
- Challenges to the development of new agents for molecularly defined patient subsets: lessons from BRCA1/2-associated breast cancer. (2011) (26)
- Combination ATR and PARP Inhibitor (CAPRI): A phase 2 study of ceralasertib plus olaparib in patients with recurrent, platinum-resistant epithelial ovarian cancer. (2021) (26)
- Are physician recommendations for BRCA1/2 testing in patients with breast cancer appropriate? A population‐based study (2013) (26)
- Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancer (2020) (26)
- Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes (2020) (26)
- A counseling framework for moderate-penetrance colorectal cancer susceptibility genes (2018) (25)
- An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers (2015) (25)
- Clinical activity of the poly(ADP-ribose) polymerase (PARP) inhibitor rucaparib in patients (pts) with high-grade ovarian carcinoma (HGOC) and a BRCA mutation (BRCAmut): Analysis of pooled data from Study 10 (parts 1, 2a, and 3) and ARIEL2 (parts 1 and 2) (2016) (25)
- Refining Breast Cancer Risk Stratification: Additional Genes, Additional Information. (2016) (25)
- Risk-Reducing Mastectomy in BRCA1 and BRCA2 Mutation Carriers: A Complex Discussion. (2019) (25)
- CDH1 on multigene panel testing: Look before you leap. (2019) (24)
- Use of systemic hormone therapy in BRCA mutation carriers. (2016) (24)
- P1.15-004 An Open-Label, Multitumor Phase II Basket Study of Olaparib and Durvalumab (MEDIOLA): Results in Patients with Relapsed SCLC (2017) (24)
- Variation in breast cancer risk in BRCA1 and BRCA2 mutation carriers (2008) (24)
- Relationship of established risk factors with breast cancer subtypes (2021) (23)
- Reversion Mutations with Clinical Use of PARP Inhibitors: Many Genes, Many Versions. (2017) (23)
- Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers (2012) (23)
- Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group. (2018) (22)
- Differential lysis of tumors by polyclonal T cell lines and T cell clones specific for hTERT (2007) (22)
- BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry (2019) (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)
- Uptake and acceptability of a mainstreaming model of hereditary cancer multigene panel testing among patients with ovarian, pancreatic, and prostate cancer (2021) (21)
- Identifying Health Information Technology Needs of Oncologists to Facilitate the Adoption of Genomic Medicine: Recommendations From the 2016 American Society of Clinical Oncology Omics and Precision Oncology Workshop. (2017) (21)
- Women In Steady Exercise Research (WISER) Sister: study design and methods. (2015) (21)
- Evaluation of a web‐based weight loss intervention in overweight cancer survivors aged 50 years and younger (2017) (21)
- Exploring the link between MORF4L1 and risk of breast cancer (2011) (21)
- Retrospective Survival Analysis of Patients With Resected Pancreatic Ductal Adenocarcinoma and a Germline BRCA or PALB2 Mutation. (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)
- The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer (2019) (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)
- Preventive surgery is associated with reduced cancer risk and mortality in women with BRCA1 and BRCA2 mutations. (2010) (19)
- Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers (2011) (19)
- Sociocultural Predictors of Breast Cancer Risk Perceptions in African American Breast Cancer Survivors (2007) (19)
- A phase I trial of palbociclib and paclitaxel in metastatic breast cancer. (2014) (19)
- Endoscopic Ultrasound Has Limited Utility in Diagnosis of Gastric Cancer in Carriers of CDH1 Mutations. (2020) (19)
- Follow-up frequency and compliance in women with probably benign findings on breast magnetic resonance imaging. (2012) (19)
- Patients' Medical and Psychosocial Experiences After Detection of a CDH1 Variant With Multigene Panel Testing. (2019) (18)
- Multimodal assessment of protein functional deficiency supports pathogenicity of BRCA1 p.V1688del. (2009) (18)
- Real-world integration of genomic data into the electronic health record: the PennChart Genomics Initiative (2020) (18)
- BRCA 1 R 1699 Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk (2012) (18)
- Associations between breast density and a panel of single nucleotide polymorphisms linked to breast cancer risk: a cohort study with digital mammography (2015) (18)
- No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer. (2016) (18)
- Genetic Variation in IGF2 and HTRA1 and Breast Cancer Risk among BRCA1 and BRCA2 Carriers (2011) (18)
- Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer (2010) (17)
- Earlier Colorectal Cancer Screening May Be Necessary In Patients With Li-Fraumeni Syndrome. (2019) (17)
- Preferences for in‐person disclosure: Patients declining telephone disclosure characteristics and outcomes in the multicenter Communication Of GENetic Test Results by Telephone study (2018) (17)
- Abstract PD5-04: An open-label, phase II basket study of olaparib and durvalumab (MEDIOLA): Updated results in patients with germlineBRCA-mutated (gBRCAm) metastatic breast cancer (MBC) (2019) (17)
- DCIS in BRCA1 and BRCA2 mutation carriers: prevalence, phenotype, and expression of oncodrivers C-MET and HER3 (2015) (17)
- Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study. (2018) (17)
- Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition (2018) (17)
- A phase II trial of an oral CDK 4/6 inhibitor, PD0332991, in advanced breast cancer. (2013) (17)
- Risk factors for sexual dysfunction in BRCA mutation carriers after risk-reducing salpingo-oophorectomy (2019) (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)
- Germline CHEK2*1100delC mutations in breast cancer patients with multiple primary cancers (2004) (16)
- Research participants’ experiences with return of genetic research results and preferences for web‐based alternatives (2019) (16)
- Lack of association between common single nucleotide polymorphisms in the TERT-CLPTM1L locus and breast cancer in women of African ancestry (2012) (16)
- Transcriptome-wide association study of breast cancer risk by estrogen-receptor status (2020) (16)
- Incremental impact of breast cancer SNP panel on risk classification in a screening population of white and African American women (2013) (15)
- Antitumor activity of the poly(ADP-ribose) polymerase inhibitor rucaparib as monotherapy in patients with platinum-sensitive, relapsed, BRCA-mutated, high-grade ovarian cancer, and an update on safety (2019) (15)
- Association of premenopausal risk-reducing salpingo-oophorectomy with breast cancer risk in BRCA1/2 mutation carriers: Maximising bias-reduction. (2020) (15)
- A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers (2021) (15)
- Physical and psychological health in rare cancer survivors (2017) (15)
- Recent advances in breast cancer biology (1995) (15)
- Abstract S2-05: Efficacy and tolerability of veliparib (V; ABT-888) in combination with carboplatin (C) and paclitaxel (P) vs placebo (Plc)+C/P in patients (pts) withBRCA1orBRCA2mutations and metastatic breast cancer: A randomized, phase 2 study (2017) (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)
- Tamoxifen and the risk of ovarian cancer in BRCA1 mutation carriers. (2009) (14)
- Common Genetic Variants and Modification of Penetrance of BRCA 2-Associated Breast Cancer (2010) (14)
- Broad Application of Multigene Panel Testing for Breast Cancer Susceptibility-Pandora's Box Is Opening Wider. (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)
- Update on Genetic Testing in Gynecologic Cancer. (2019) (14)
- Breast cancer gene variants: separating the harmful from the harmless. (2009) (13)
- Evolution of genetic testing for inherited susceptibility to breast cancer. (2015) (13)
- No evidence that CDKN1B (p27) polymorphisms modify breast cancer risk in BRCA1 and BRCA2 mutation carriers (2009) (13)
- Returning Individual Genetic Research Results to Research Participants: Uptake and Outcomes Among Patients With Breast Cancer. (2018) (13)
- 882PDPHASE 1/2 STUDY OF ORAL RUCAPARIB: UPDATED PHASE 1 AND PRELIMINARY PHASE 2 RESULTS. (2014) (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)
- Combination of PARP and ATR inhibitors (olaparib and ceralasertib) shows clinical activity in acquired PARP inhibitor-resistant recurrent ovarian cancer. (2021) (13)
- Psychosocial Adjustment and Perceived Risk Among Adolescent Girls From Families With BRCA1/2 or Breast Cancer History. (2016) (13)
- No evidence that GATA3 rs570613 SNP modifies breast cancer risk (2009) (13)
- Predicting the extent of invasive disease by MRI to enhance the use of minimally invasive techniques in the management of early stage breast carcinoma. (2004) (12)
- Comparison of the Prevalence of Pathogenic Variants in Cancer Susceptibility Genes in Black Women and Non-Hispanic White Women With Breast Cancer in the United States. (2021) (12)
- Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes. (2020) (12)
- Panel testing for inherited susceptibility to breast, ovarian, and colorectal cancer (2014) (12)
- The CYP 1 A 2 Genotype Modifies the Association Between Coffee Consumption and Breast Cancer Risk Among BRCA 1 Mutation Carriers (2007) (12)
- Risk of Late-Onset Breast Cancer in Genetically Predisposed Women (2021) (12)
- Niraparib plus nivolumab or niraparib plus ipilimumab in patients with platinum-sensitive advanced pancreatic cancer: a randomised, phase 1b/2 trial. (2022) (12)
- A randomized phase II trial of niraparib plus either nivolumab or ipilimumab in patients with advanced pancreatic cancer whose cancer has not progressed on platinum-based therapy. (2019) (11)
- Ethical Implications of Direct-to-Consumer Hereditary Cancer Tests (2018) (11)
- Frequency of triple-negative breast cancer in BRCA1 mutation carriers: comparison between common Ashkenazi Jewish and other mutations. (2012) (11)
- Polygenic risk modeling for prediction of epithelial ovarian cancer risk (2022) (11)
- Retention of African American women in cancer genetics research (2008) (11)
- Integrating Clinical and Polygenic Factors to Predict Breast Cancer Risk in Women Undergoing Genetic Testing (2021) (11)
- MEDIOLA: A phase I/II trial of olaparib (PARP inhibitor) in combination with durvalumab (anti-PD-L1 antibody) in pts with advanced solid tumours - new ovarian cancer cohorts. (2018) (10)
- MEDIOLA: A phase I/II, open-label trial of olaparib in combination with durvalumab (MEDI4736) in patients (pts) with advanced solid tumours (2016) (10)
- AURKA F 31 I Polymorphism and Breast Cancer Risk in BRCA 1 and BRCA 2 Mutation Carriers : A Consortium of Investigators of Modifiers of BRCA 1 / 2 Study (2007) (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)
- The utility of ductal lavage in breast cancer detection and risk assessment (2002) (10)
- Genetic Susceptibility to Type 2 Diabetes and Breast Cancer Risk in Women of European and African Ancestry (2012) (10)
- Gemcitabine and trastuzumab combinations for patients with metastatic breast cancer overexpressing HER2/neu. (2004) (10)
- Germline Pathogenic Variants in Cancer Predisposition Genes Among Women With Invasive Lobular Carcinoma of the Breast (2021) (9)
- A Rare TP53 Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers (2020) (9)
- Breast Cancer Surgery Trend Changes Since the Introduction of BRCA1/2 Mutation Screening: A Retrospective Cohort Analysis of 158 Mutation Carriers Treated at a Single Institution (2011) (9)
- Ophira M. GinsburgCharmaine Kim-SingWilliam D. Foulkes • Parviz GhadirianHenry T. LynchPing SunSteven A. Narod • Hereditary Breast Cancer Clinical Study Group (2010) (9)
- Detailed phenotyping reveals distinct trajectories of cardiovascular function and symptoms with exposure to modern breast cancer therapy (2019) (9)
- Use and Patient-Reported Outcomes of Clinical Multigene Panel Testing for Cancer Susceptibility in the Multicenter Communication of Genetic Test Results by Telephone Study. (2018) (9)
- Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes (2019) (9)
- Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers (2016) (9)
- Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer (2021) (9)
- Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores (2021) (9)
- Executive function after risk-reducing salpingo-oophorectomy in BRCA1 and BRCA2 mutation carriers: does current mood and early life adversity matter? (2020) (9)
- Cancer Risk Models: Translating Family History into Clinical Management (2007) (8)
- Exploring the link between MORF4L1 and risk of breast cancer (2011) (8)
- Abstract P6-13-08: Palbociclib and paclitaxel on an alternating schedule for advanced breast cancer: Results of a phase Ib trial (2016) (8)
- The clinical management of BRCA1 and BRCA2 mutation carriers (2008) (8)
- Genetic testing and clinical management practices for variants in non-BRCA1/2 breast (and/or ovarian) cancer susceptibility genes: An international survey by the Enigma Clinical Working Group. (2018) (8)
- Uptake of oophorectomy in women with findings on multigene panel testing: Results from the Prospective Registry of Multiplex Testing (PROMPT). (2020) (8)
- Cardiovascular Function Phenotypes in Response to Cardiotoxic Breast Cancer Therapy. (2019) (8)
- Rapid detection of BRCA1/2 recurrent mutations in Chinese breast and ovarian cancer patients with multiplex SNaPshot genotyping panels (2017) (8)
- Subgroup analysis of olaparib monotherapy versus chemotherapy by hormone receptor and BRCA mutation status in patients with HER2-negative metastatic breast cancer and a germline BRCA mutation: OlympiAD (2018) (8)
- Utilization of Religious Coping Strategies Among African American Women at Increased Risk for Hereditary Breast and Ovarian Cancer (2009) (8)
- Broadening Criteria for BRCA1/2 Evaluation: Placing the USPSTF Recommendation in Context. (2019) (8)
- Phase I study of anti-CD25 mab daclizumab to deplete regulatory T cells prior to telomerase/survivin peptide vaccination in patients (pts) with metastatic breast cancer (MBC). (2010) (7)
- Comprehensive Breast Cancer Risk Assessment for CHEK2 and ATM Pathogenic Variant Carriers Incorporating a Polygenic Risk Score and the Tyrer-Cuzick Model (2021) (7)
- Prevalence of mutations in a panel of breast cancer susceptibility genes in patients with early onset breast cancer. (2014) (7)
- Clinical Characteristics of Patients With Pancreatic Cancer and Pathogenic ATM Alterations (2021) (7)
- The prevention of hereditary breast cancer. (2007) (7)
- Abstract GS2-01: Age-related breast cancer risk estimates for the general population based on sequencing of cancer predisposition genes in 19,228 breast cancer patients and 20,211 matched unaffected controls from US based cohorts in the CARRIERS study (2019) (7)
- Modification of BRCA 1-Associated Breast and Ovarian Cancer Risk by BRCA 1-Interacting Genes (2011) (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)
- Genetic counseling and oncology: proposed approaches for collaborative care delivery. (2019) (7)
- Recent advances in breast cancer biology. (2002) (6)
- Clinical implications of low-penetrance breast cancer susceptibility alleles (2009) (6)
- Risk factors for breast cancer subtypes among Black women undergoing screening mammography (2021) (6)
- How Should Patients and Providers Interpret the US Food and Drug Administration's Regulatory Language for Direct-to-Consumer Genetic Tests? (2019) (6)
- Sex ratio skewing of offspring in families with hereditary susceptibility to breast cancer (2005) (6)
- Outcomes following breast conservation versus mastectomy in BRCA1/2 carriers with early-stage breast cancer (2008) (6)
- Genetic Variation in IGF 2 and HTRA 1 and Breast Cancer Risk among BRCA 1 and BRCA 2 Carriers (2011) (6)
- RE: BRCA1 and BRCA2 Gene Mutations and Colorectal Cancer Risk: Systematic Review and Meta-analysis. (2019) (6)
- 290POlympiAD: Health-related quality of life (HRQoL) in patients with HER2-negative metastatic breast cancer (mBC) and a germline BRCA mutation (gBRCAm) receiving olaparib monotherapy vs standard single-agent chemotherapy treatment of physician’s choice (TPC) (2017) (6)
- Longitudinal outcomes with cancer multigene panel testing in previously tested BRCA1/2 negative patients (2019) (6)
- Agreement of self-reported hormone receptor status with cancer registry data in young breast cancer patients. (2013) (6)
- What happens after menopause? (WHAM): A prospective controlled study of vasomotor symptoms and menopause-related quality of life 12 months after premenopausal risk-reducing salpingo-oophorectomy. (2021) (5)
- Evidence for SMAD 3 as a modifier of breast cancer risk in BRCA 2 mutation carriers (2010) (5)
- Inherited Genetic Factors and Breast Cancer (2010) (5)
- BRIP1 as an ovarian cancer susceptibility gene: ready for the clinic? (2015) (5)
- Avelumab Plus Talazoparib in Patients With BRCA1/2- or ATM-Altered Advanced Solid Tumors (2022) (5)
- Upper Gastrointestinal Cancer Risk and Surveillance Outcomes in Li-Fraumeni Syndrome. (2020) (5)
- Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer (2010) (5)
- Integrating Genetic and Genomic Testing Into Oncology Practice. (2020) (5)
- Mutation Rates in Cancer Susceptibility Genes in Patients With Breast Cancer With Multiple Primary Cancers. (2020) (5)
- Anti-tumor activity of PM01183 (lurbinectedin) in BRCA1/2-associated metastatic breast cancer patients: results of a single-agent phase II trial (2016) (5)
- Abstract OT3-05-03: MEDIOLA: An open-label, phase I/II basket study of olaparib (PARP inhibitor) and durvalumab (anti-PD-L1 antibody)–Additional breast cancer cohorts (2019) (5)
- What happens after menopause? (WHAM): A prospective controlled study of depression and anxiety up to 12 months after premenopausal risk-reducing bilateral salpingo-oophorectomy. (2021) (5)
- Ten-fold increase in genetic testing in pancreatic and metastatic prostate cancer with implementation of point of care (POC) testing. (2019) (5)
- Randomized study of remote telehealth genetic services versus usual care in oncology practices without genetic counselors (2021) (5)
- Abstract CT038: OlympiAD final overall survival: Olaparib versus chemotherapy treatment of physician's choice (TPC) in patients with HER2-negative metastatic breast cancer (mBC) and a germlineBRCAmutation (gBRCAm) (2018) (4)
- Abstract P4-22-14: Single agent palbociclib with or without trastuzumab for the treatment of Rb+ advanced breast cancer (2017) (4)
- Large genomic rearrangement in BRCA1 and BRCA2 and clinical characteristics of men with breast cancer in the United States. (2007) (4)
- Oncotype DX scores in BRCA1 and BRCA2 associated breast cancer. (2015) (4)
- A single arm phase II study of rucaparib maintenance in patients with advanced pancreatic adenocarcinoma and a known deleterious BRCA1, BRCA2 or PALB2 mutation who have achieved stability on platinum therapy. (2018) (4)
- Reproductive decision-making in patients diagnosed with BRCA mutations (2015) (4)
- Germline genetic testing for breast cancer: which patients? What genes? (2019) (4)
- Pervasive genetic testing (2018) (4)
- Early results from the BRCA Founder Outreach (BFOR) Study: Population genetic screening using a medical model. (2019) (4)
- Local Therapy in BRCA1/2 Carriers with Operable Breast Cancer: Comparison of Breast Conservation and Mastectomy. (2009) (4)
- Author Correction: The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk (2017) (4)
- A Recurrent ERCC 3 Truncating Mutation Confers Moderate Risk for Breast Cancer (2016) (4)
- Abstract PD4-03: OlympiAD extended follow-up for overall survival and safety: Olaparib versus chemotherapy treatment of physician’s choice in patients with a germline BRCA mutation and HER2-negative metastatic breast cancer (2020) (4)
- The contemporary landscape of genetic testing and breast cancer: Emerging issues (2020) (4)
- Telomerase vaccination of metastatic breast cancer patients induces antigen-specific tumor infiltrating lymphocytes and tumor necrosis (2005) (4)
- What Happens After Menopause? (WHAM): A prospective controlled study of cardiovascular and metabolic risk 12 months after premenopausal risk-reducing bilateral salpingo-oophorectomy. (2021) (4)
- Uptake of BRCA 1/2 and oncotype DX testing by medical and surgical oncologists (2018) (4)
- Comparison of up-front cash cards and checks as incentives for participation in a clinician survey: a study within a trial (2020) (4)
- 243PD OlympiAD: further efficacy outcomes in patients with HER2-negative metastatic breast cancer and a germline BRCA mutation receiving olaparib monotherapy vs standard single-agent chemotherapy treatment of physician’s choice. (2017) (4)
- EORTC QLQ-C30 (QLQ-C30) symptoms in patients (pts) with HER2-negative metastatic breast cancer (mBC) and a germline BRCA mutation (gBRCAm) receiving olaparib vs chemotherapy treatment of physician’s choice (TPC) in OlympiAD. (2018) (3)
- Longitudinal follow-up after telephone disclosure in the randomized COGENT Study (2020) (3)
- Genome-wide association studies in women of African ancestry identified 3 q 26 . 21 as a novel susceptibility locus for oestrogen receptor negative breast cancer (2017) (3)
- Contralateral Breast Cancer Risk Among Carriers of Germline Pathogenic Variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2 (2023) (3)
- Utilization of oncotype DX in node-negative, ER-positive breast cancer patients (2007) (3)
- Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer (2020) (3)
- Cancer vaccines (2022) (3)
- Abstract P5-21-12: Tolerability of olaparib monotherapy versus chemotherapy in patients with HER2-negative metastatic breast cancer and a germline BRCA mutation: OlympiAD (2018) (3)
- Characteristics of high risk breast cancer patients with mutations identified by multiplex panel testing. (2015) (3)
- Abstract P2-16-20: Biomarkers to predict response to the CDK 4/6 inhibitor, palbociclib (PD 0332991) in a single-agent phase II trial in advanced breast cancer (2013) (3)
- How genetic variant libraries effectively extend gene testing patents: implications for intellectual property and good clinical care. (2012) (3)
- What happens after menopause? (WHAM): A prospective controlled study of sleep quality up to 12 months after premenopausal risk-reducing salpingo-oophorectomy. (2021) (3)
- A phase 2, open-label study of rucaparib in patients with pancreatic cancer and a known deleterious BRCA mutation. (2014) (3)
- Preventative Health and Risk Behaviors Among Adolescent Girls With and Without Family Histories of Breast Cancer. (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)
- Olaparib monotherapy in patients with advanced relapsed ovarian cancer and a germline BRCA1/2 mutation: A multi-study sub-analysis (2015) (3)
- Medical oncologists’ willingness to participate in bundled payment programs (2018) (3)
- Impact of integrating genomic data into the electronic health record on genetics care delivery. (2022) (3)
- A prospective controlled study of sexual function and sexually related personal distress up to 12 months after premenopausal risk-reducing bilateral salpingo-oophorectomy (2021) (3)
- BRCA1 and BRCA2 Risk Perceptions among African American Women at Increased Risk for Hereditary Breast-Ovarian Cancer (2008) (3)
- Abstract P4-22-02: Evaluation of veliparib (V) and temozolomide (TMZ) in a phase 2 randomized study of the efficacy and tolerability of V+TMZ or carboplatin (C) and paclitaxel (P) vs placebo (Plc)+C/P in patients (pts) withBRCA1orBRCA2mutations and metastatic breast cancer (2017) (3)
- Targeted BRCA1/2 population screening among Ashkenazi Jewish individuals using a web-enabled medical model: An observational cohort study. (2021) (3)
- Abstract B102: A phase 2, open-label study of the PARP inhibitor rucaparib in patients with pancreatic cancer and a known deleterious BRCA mutation (2015) (3)
- Prospective Registry of Multiplex Testing (PROMPT): Feasible and sustainable. (2018) (3)
- Analysis of BRCA genes and homologous recombination deficiency (HRD) scores in tumours from patients (pts) with metastatic breast cancer (mBC) in the OlympiAD trial (2019) (3)
- Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer. (2020) (3)
- Tremelimumab in combination with exemestane as novel immunotherapy for patients with advanced breast cancer. (2016) (3)
- Collapse of the CD 27 + B-Cell Compartment Associated with Systemic Plasmacytosis in Patients with Advanced Melanoma and Other Cancers (2009) (2)
- Impact of prior knowledge of mutation status on tumor stage in BRCA1/2 mutation carriers with newly diagnosed breast cancer. (2015) (2)
- Abstract P1-12-06: Co-SOFT: The cognitive function substudy of the suppression of ovarian function trial (SOFT) (2015) (2)
- Challenges and Opportunities in Engaging Primary Care Providers in BRCA Testing: Results from the BFOR Study (2021) (2)
- Abstract A72: Combination ATR and PARP inhibitor (CAPRI) for recurrent, platinum-resistant ovarian cancer (2020) (2)
- Abstract OT1-1-14: A phase 2, 2-stage, 2-cohort study of the oral PARP inhibitor BMN 673 in patients with germline BRCA mutation and locally advanced and/or metastatic breast cancer (ABRAZO study) (2015) (2)
- Familial Breast Cancer Risk (2013) (2)
- Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay (2022) (2)
- Anti-Mullerian Hormone Levels are Lower in BRCA2 Mutation Carriers (2017) (2)
- Abstract OT2-07-09: Detection and targeting of minimal residual disease in breast cancer to reduce recurrence: The PENN-SURMOUNT and CLEVER trials (2018) (2)
- Internet use is associated with utilization of genetic counseling for BRCA 1/2 mutations in women with a family history of breast or ovarian cancer. (2006) (2)
- Poor sleep quality after surgical menopause: complex associations between mood, vasomotor symptoms, and medications (2014) (2)
- Refining Breast Cancer Risk Stratification: Additional Genes, Additional Information. (2016) (2)
- EUS-based Pancreatic Cancer Surveillance in BRCA1/BRCA2/PALB2/ATM Carriers Without a Family History of Pancreatic Cancer (2021) (2)
- Prophylactic Mastectomy and Risk-Reducing Salpingo-oophorectomy in BRCA1/2 Mutation Carriers (2012) (2)
- A randomized study of genetic education versus usual care in tumor profiling for advanced cancer in the ECOG‐ACRIN Cancer Research Group (EAQ152) (2021) (2)
- Sensitivity of clinical BRCA1 testing compared with linkage analysis. (2012) (2)
- Refining BRCA1 and BRCA2 penetrance estimates in the clinic (2009) (2)
- Abstract 2990: Evidence for diverse mechanisms of tumorigenesis in breast and ovarian tumors of BRCA1/2 carriers (2015) (2)
- Quality of life in BRCA1 and BRCA2 mutation carriers (B1/2) following risk-reducing salpingo-oophorectomy (RRSO). (2014) (2)
- Abstract PD3-01: Population-based breast cancer risk estimates for predisposition gene mutations: Results from the CARRIERS study (2020) (2)
- PTEN Loss and BRCA1 Promoter Hypermethylation Negatively Predict for Immunogenicity in BRCA-Deficient Ovarian Cancer (2022) (2)
- Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition (2018) (2)
- The evolution of poly(ADP-ribose) polymerase inhibitors in the treatment of breast cancer. (2018) (2)
- Efficacy and safety of olaparib monotherapy in a subgroup of patients with a germline BRCA1/2 mutation and advanced ovarian cancer from a Phase II open-label study. (2015) (2)
- The future is 'PARP' - Phase-II-activity of PARP inhibitor among patients with BRCA-deficient breast cancer (2010) (2)
- Reaching beyond family history as inclusion criteria for pancreatic cancer surveillance in high-risk populations (2022) (2)
- Olaparib for Metastatic Germline BRCA-Mutated Breast Cancer. (2017) (1)
- Abstract 4511: Characterization of tumor neoantigen repertoire in patients with germline BRCA1/2 mutations (2016) (1)
- The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk (2017) (1)
- Mammographic, MRI, and ultrasound characteristics of BRCA1, BRCA2, and other genetically high-risk women enrolled in a prospective multi-institution breast cancer screening trial. (2004) (1)
- Abstract 4169: Population-based breast cancer risk estimates associated with cancer predisposition gene mutations from 32,298 breast cancer patients and 31,869 matched unaffected controls from the CARRIERS study (2019) (1)
- Reply to R.L. Nussbaum et al and J.S. Dolinsky et al. (2017) (1)
- 644 Major pathologic response after a single radiotherapy fraction + a single pembrolizumab dose given preoperatively in patients with cT1N0 triple negative breast cancer (TNBC) – preliminary results of a phase 1b/2 study (NCT04454528) (2022) (1)
- Update on chemoprevention in BRCA1 and BRCA2 mutation carriers (2005) (1)
- Uterine cancer (Ut Ca) following risk-reducing salpingo-oophorectomy (RRSO) in women with BRCA mutations (BRCA+): A multicenter, prospective study. (2015) (1)
- Polygenic Risk Modelling for Prediction of Epithelial Ovarian Cancer Risk (2020) (1)
- Characteristics of ductal carcinoma in situ found in BRCA1 and BRCA2 mutation carriers (2012) (1)
- Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers (2012) (1)
- Prospective registry of multiplex testing (PROMPT): A web-based platform to assess cancer risk of genetic variants. (2016) (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)
- Syddansk Universitet Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12 p 11 locus (2016) (1)
- Response: Table 1. (2016) (1)
- Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer (2016) (1)
- Abstract 1291: High and moderate penetrance germline mutations in a number of genes are responsible for a small proportion of familial breast cancer risk in BRCAx families (2014) (1)
- Prospective Registry of Multiplex Testing (PROMPT): Follow-up. (2019) (1)
- Association of Risk-Reducing Surgery With Cancer Risks and Mortality in BRCA Mutation Carriers—Reply (2010) (1)
- Abstract B11: Replication of previously identified breast cancer susceptibility loci in a breast cancer case-control study on women of African ancestry (2014) (1)
- Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers (2021) (1)
- 7N Local therapy options in BRCA1/2 carriers with operable breast cancer: the importance of adjuvant chemotherapy (2010) (1)
- Patterns and predictors of BRCA 1/2 testing in young breast cancer survivors. (2016) (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)
- Abstract PD9-11: Identifying breast cancer survivors with dormant disseminated tumor cells: The PENN-SURMOUNT screening study (2021) (1)
- Abstract P6-07-05: Mutational spectrum and tumor response in metastatic breast cancer (2016) (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)
- Innovation in germline and somatic tumor testing pathways for ovarian cancer patients (2021) (1)
- The BRCA founder outreach study: Initial results of a digital health model. (2020) (1)
- RE : BRCA 1 and BRCA 2 Gene Mutations and Colorectal Cancer Risk : Systematic Review and Meta-analysis (2019) (1)
- Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women (2016) (1)
- Abstract P1-11-02: Telemedicine: Expanding access to cancer genetic services to underserved populations (2015) (1)
- Abstract P5-17-06: Emotional/psychological characteristics of women with triple-negative breast cancer: Do socioeconomic, demographic, and provider variables impact emotional change from diagnosis to post-treatment? (2015) (1)
- Interest in and outcomes with return of individual genetic research results for inherited susceptibility to breast cancer. (2015) (1)
- Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk (2022) (1)
- Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers (2022) (1)
- CHANGES IN LEFT VENTRICULAR DIASTOLIC FUNCTION WITH CONTEMPORARY BREAST CANCER THERAPY (2019) (1)
- Contralateral prophylactic mastectomy in affected carriers of deleterious BRCA1 or BRCA2 mutations: Does timing of genetic testing matter? (2006) (1)
- Genetic counseling for BRCA1 and BRCA2 mutations in African American women. (2009) (1)
- Abstract LB-425: Replication of 18 susceptibility loci of breast cancer in women of African ancestry (2011) (1)
- BRCA1/2 Mutations and Cardiovascular Function in Breast Cancer Survivors (2022) (1)
- 91 – Cancer of the Breast (2014) (1)
- Uptake of genetic testing and outcomes in a randomized study of remote genetic services as compared to usual care in community practices without genetic providers. (2018) (1)
- 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)
- A randomized phase Ib/II study of niraparib (nira) plus nivolumab (nivo) or ipilimumab (ipi) in patients (pts) with platinum-sensitive advanced pancreatic cancer (aPDAC). (2022) (1)
- Cancer susceptibility mutations in individuals with breast and ovarian cancer using next-generation sequencing. (2016) (1)
- Nationwide Trends and Determinants of Germline BRCA1/2 Testing in Patients With Breast and Ovarian Cancer. (2023) (1)
- Development and Validation of a Breast Cancer Polygenic Risk Score on the Basis of Genetic Ancestry Composition (2022) (1)
- Genetic predisposition to breast cancer among African American women. (2019) (0)
- Factors that influence genetic testing outcomes in high-risk breast/ovarian families (2005) (0)
- Abstract P4-12-33: Frequency of radiation-induced malignancies post-adjuvant radiotherapy for breast cancer in patients with Li-Fraumeni syndrome (2020) (0)
- First international workshop of the ATM and cancer risk group (4-5 December 2019) (2021) (0)
- Abstract 17722: Ventricular-Vascular Coupling Predicts Cardiotoxicity in Breast Cancer Patients Treated With Doxorubicin or Trastuzumab (2013) (0)
- Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia | NOVA. The University of Newcastle's Digital Repository (2014) (0)
- Burden of genetic testing in an academic biobank by pathological and family history-based criteria in prostate cancer (PCa). (2020) (0)
- Abstract P2-08-03: Targeting inflammatory pathways: A phase 2 trial of the JAK-inhibitor ruxolitinib in combination with exemestane for aromatase inhibitor-resistant, estrogen receptor-positive breast cancer (2017) (0)
- Longitudinal follow-up after telephone disclosure in the randomized COGENT study (2020) (0)
- Abstract P4-01-08: Effect of bilateral salpingo-oophrectomy on breast MRI fibroglandular volume and background parenchymal enhancement for BRCA 1/2 mutation carriers. (2012) (0)
- Abstract P5-10-04: Spectrum of hereditary breast and ovarian cancer gene variants in an African American cohort (2017) (0)
- Measuring high-risk parents' opinions about direct-to-consumer genetic testing for adult-onset inherited cancer syndromes in their adolescent and young adult children. (2023) (0)
- Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers (2021) (0)
- Title Interplay between BRCA 1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer (2012) (0)
- Abstract 4265: Risks of familial breast cancer associated with known and proposed breast cancer susceptibility genes (2017) (0)
- Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition (vol 118, pg 266, 2018) (2018) (0)
- A functionally significant SNP in TP53 and breast cancer risk in African-American women (2017) (0)
- Abstract ES3-3: Management of Women with a High Predisposition to Breast Cancer: Standard of Care (2010) (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)
- Abstract PD4-07: PET imaging of PARP-1 expression in breast cancer (2019) (0)
- Abstract 4663: Identification of germline variants in cancer susceptibility genes in patients with multiple primary cancers (2015) (0)
- Care after premenopausal risk-reducing salpingo-oophorectomy in high-risk women: Scoping review and international consensus recommendations. (2023) (0)
- Abstract P2-09-01: Patient reported outcomes of multiplex breast cancer susceptibility testing utilizing a tiered-binned counseling and informed consent model in BRCA1/2 negative patients (2016) (0)
- Abstract IA3-3: Genetic testing for breast and ovarian cancer: From risk assessment to therapeutic targeting (2010) (0)
- Patient-reported outcomes in a multicenter randomized study of in-person versus telephone disclosure of genetic test results for cancer susceptibility. (2016) (0)
- The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer (2019) (0)
- Abstract PS7-02: The relationship of established breast cancer risk factors with breast cancer subtypes (2021) (0)
- Knowledge outcomes in a randomized trial of telephone vs. in-person disclosure of genetic testing: The COGENT study. (2017) (0)
- Streamline of the gene line: Implementation of reflex homologous recombination deficiency (HRD) tumor testing in newly diagnosed ovarian cancer patients (593) (2022) (0)
- Genetic testing experiences and emotional reactions among individuals with variant of uncertain significance results from cancer multiplex genetic testing. (2020) (0)
- Reviewer Acknowledgment 2016 (2017) (0)
- Abstract P6-01-02: Flourine-18-fluorodeoxyglucose positron emission tomography for the evaluation of response to therapy in bone-dominant metastatic breast cancer: Examination in patients enrolled on UPCC 17113 (2016) (0)
- Update on chemoprevention in BRCA 1 and BRCA 2 mutation carriers (2005) (0)
- Abstract 5220: Evaluation of ACMG guideline classified variants in 180 cancer and incidental non-cancer genes in families with breast/ovarian cancer (2016) (0)
- Commentary (Stopfer/Domchek): Evaluation and Management of Women With BRCA1/2 Mutations (2005) (0)
- ociation of the Variants CASP 8 D 302 H and CASP 10 0 I with Breast and Ovarian Cancer Risk in B & P A 1 and BRCA 2 Mutation Carriers (2010) (0)
- Vasomotor symptoms after risk reducing bilateral salpingo-oophorectomy (RRSO) in brca mutation carriers: impact of obesity, hormone replacement therapy (HRT), and depressed mood (2014) (0)
- Randomized trial of web-based genetic education versus usual care in advanced cancer patients undergoing tumor genetic testing: Results from the ECOG-ACRIN NCI Community Oncology Research Program (NCORP; EAQ152) COMET trial. (2020) (0)
- Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2 (2016) (0)
- Ruxolitinib and exemestane for estrogen receptor positive, aromatase inhibitor resistant advanced breast cancer (2022) (0)
- Abstract P2-11-21: Integration of an ancestrally unbiased polygenic risk score with the Tyrer-Cuzick breast cancer risk model (2022) (0)
- Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses (2020) (0)
- Pathologic predictors of BRCA1/ BRCA2 (B1/B2) mutations in African-American (AA) women with early-onset breast cancer (BC) (2016) (0)
- Abstract 2528: Age and body mass index are predictive of cancer diagnosis among women with BIRADS 4 mammograms.: (2013) (0)
- Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes (2020) (0)
- Information preferences of women with triple-negative breast cancer (TNBC). (2015) (0)
- Risk factors for sexual dysfunction in BRCA1 and BRCA2 (B1/2) mutation carriers following risk-reducing salpingo-oophorectomy (RRSO) (2014) (0)
- Late effects in rare cancer registrants. (2014) (0)
- Physician and patient-related barriers to participation in genetic testing for breast cancer susceptibility (2004) (0)
- Estradiol and breast cancer risk. (2006) (0)
- Risk of pediatric malignancy in families known to carry BRCA1/2 mutations. (2018) (0)
- Clinical Impact of a Rapid Genetic Testing Model for Advanced Prostate Cancer Patients (2023) (0)
- Male breast cancer in BRCA1 and BRCA2 mutation carriers (2018) (0)
- Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers (2014) (0)
- Receptor Tyrosine Kinase Expression in BRCA Mutation Carriers: An Opportunity for Prevention of Invasive Breast Cancer (2014) (0)
- Author / Subject Index (2008) (0)
- Quantitative assessment of background parenchymal enhancement in breast MRI predicts response to risk-reducing salpingo-oophorectomy: preliminary evaluation in a cohort of BRCA1/2 mutation carriers (2015) (0)
- Blood Arsenic Levels as a Marker of Breast Cancer Risk among BRCA1 Carriers (2021) (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)
- q 31 . 2 and in ZNF 365 are associated with breast cancer risk for BRCA 1 and / or BRCA 2 mutation carriers (2012) (0)
- Abstract PD9-10: Investigating the clinical utility of tumor mutational burden in predicting rapid progression and death in patients with metastatic breast cancer (2021) (0)
- PCN20 EXERCISE LOWERS ESTROGEN AND PROGESTERONE LEVELS IN PREMENOPAUSAL WOMEN AT HIGH RISK OF BREAST CANCER (2011) (0)
- Abstract PD14-05: PD14-05 Prospective longitudinal validation of a breast cancer risk prediction model in a cohort of 130,058 women (2023) (0)
- Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk (2022) (0)
- The use of the Gail model, body mass index and SNPs to predict breast cancer among women with abnormal (BI-RADS 4) mammograms (2015) (0)
- An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers (2015) (0)
- Polygenic risk modeling for prediction of epithelial ovarian cancer risk (2022) (0)
- HRDex: a tool for deriving homologous recombination deficiency (HRD) scores from whole exome sequencing data (2022) (0)
- Abstract 1183: Mutation type and location in breast cancer susceptibility genes are associated with differential risk in the general population (2023) (0)
- Abstract P6-08-07: Polygenic breast cancer risk modification in carriers of high and intermediate risk gene mutations (2020) (0)
- Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk (2022) (0)
- Abstract A22: Homologous recombination deficiency negatively predicts for immune infiltration and antitumor immune activity in breast tumors with BRCA1/2 alterations (2018) (0)
- Abstract 2280: Targeted massively parallel sequencing identifies a limited number of clinically actionable variants in women with early onset breast cancer. (2013) (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)
- Extended follow-up in the COGENT study: A randomized study of in-person versus telephone disclosure of cancer genetic test results. (2017) (0)
- ASCO: Treating BRCA-Positive Breast Cancer (2014) (0)
- Identification of genetic test results with conflicting interpretations in prospective registry of multiplex testing (PROMPT). (2016) (0)
- Abstract CT114: A phase II trial of exemestane and ruxolitinib for aI-resistant ER+ breast cancer: Interim safety, efficacy, and biomarker analysis (2015) (0)
- DCIS in BRCA1 and BRCA2 mutation carriers: prevalence, phenotype, and expression of oncodrivers C-MET and HER3 (2015) (0)
- Universal Breast Cancer Antigens as Targets Linking Early Detection and Therapeutic Vaccination (2005) (0)
- A genome-wide association study of breast cancer in women of African ancestry (2012) (0)
- Abstract 2723: How BRCA1/2 mutations in TNBC affect TME and subsequently immune cell functions (2021) (0)
- Development of an interactive precision medicine dashboard to aid in completion of germline and homologous recombination deficiency (HRD) tumor testing for newly diagnosed ovarian cancer patients to improve the use of PARP inhibitor frontline maintenance (583) (2022) (0)
- Abstract P5-08-01: Pilot study of a patient-reported outcome (PRO) measurement strategy to determine impact of screening for minimal residual disease (MRD) in high-risk breast cancer survivors (2023) (0)
- Abstract 4648: How inherited mutations affect single cells within the tumor microenvironment in breast tumors stratified by receptor status (2023) (0)
- Surgical Management of Inherited Susceptibility to Breast Cancer (2010) (0)
- Abstract 4177: The joint effects of polygenic risk scores and pathogenic variants in cancer predisposition genes on breast cancer risk in the general population: results from the CARRIERS study (2019) (0)
- Cancer worry, anxiety, and behaviors in girls at familial or genetic risk for breast cancer. (2014) (0)
- P1-17-06: A Phase II Trial of the CDK 4/6 Inhibitor PD0332991 in Women with Advanced Breast Cancer. (2011) (0)
- OlympiAD extended follow-up for overall survival and safety: Olaparib versus chemotherapy treatment of physician's choice in patients with a germline BRCA mutation and HER2-negative metastatic breast cancer. (2023) (0)
- Abstract P4-12-10: Uptake and outcomes of multiplex testing for breast cancer susceptibility (2015) (0)
- Associations between breast density and a panel of single nucleotide polymorphisms linked to breast cancer risk: a cohort study with digital mammography (2015) (0)
- Abstract 3691: Analysis of germline BRCA1/2 mutation associated breast and ovarian tumors reveals distinct pathways of immunosuppression (2017) (0)
- Breast-Cancer Risk in Families With Mutations in PALB2 EDITORIAL COMMENT (2014) (0)
- Breast Reconstruction – A Historical Perspective on Available Techniques for Patients Electing Bilateral Mastectomy (2011) (0)
- Abstract 810: The CARRIERS consortium: Establishing refined breast cancer risk estimates in known predisposition genes (2016) (0)
- Abstract PL01-05: Genomic medicine meets cancer interception (2022) (0)
- Polygenic risk modeling for prediction of epithelial ovarian cancer risk (2022) (0)
- Abstract P5-09-04: Impact of premenopausal RRSO on breast cancer risk inBRCA1/2mutation carriers: Maximizing bias-reduction (2019) (0)
- Combination ATR (ceralasertib) and PARP (olaparib) Inhibitor (CAPRI) trial in acquired PARP-inhibitor-resistant homologous recombination deficient ovarian cancer. (2023) (0)
- The mutational spectrum of breast and ovarian tumors from BRCA1 and BRCA2 mutation carriers. (2013) (0)
- Physician and patient-related barriers to participation in genetic testing for breast cancer susceptibility. (2004) (0)
- Erratum to: Quantitative assessment of background parenchymal enhancement in breast MRI predicts response to risk-reducing salpingo-oophorectomy: preliminary evaluation in a cohort of BRCA1/2 mutation carriers (2015) (0)
- Abstract OT2-06-03: METAMORPH: METAstatic markers of recurrent tumor PHenotype for breast cancer (2018) (0)
- COMMENTARY CDH1 on Multigene Panel Testing: Look Before You Leap (0)
- Special research presentation: anti-mullerian hormone levels are different among BRCA carriers compared to low-risk, healthy controls (2014) (0)
- Follow-up MRI screening of BRCA1/2 mutation carriers (2008) (0)
- SNP rs2180341 per-allele hazard ratios (HRs) and 95% confidence intervals (CIs) among Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) in A. BRCA1 mutation carriers B. BRCA2 mutation carriers. (2012) (0)
- Germline pathogenic variants in cancer predisposition genes among women with invasive lobular cancer of breast. (2021) (0)
- Abstract 5092: Variants at 6q21 implicate PRDM1 in the etiology of therapy-induced second malignancies after Hodgkin's lymphoma (2011) (0)
- The increasing importance of pathology in modern clinical trial conduct: OlympiA as a case in point. (2022) (0)
- Comprehensive breast cancer (BC) risk assessment for CHEK2 carriers incorporating a polygenic risk score (PRS) and the Tyrer-Cuzick (TC) model. (2020) (0)
- Abstract 2500: Copy number variation in recurrent BRCA1/2 germline mutation-associated breast and ovarian cancers (2020) (0)
- P063: Prospective longitudinal validation of a breast cancer risk prediction model in a cohort of 130,058 individuals* (2023) (0)
- A phase 1b/2 study of the BET inhibitor ZEN-3694 in combination with talazoparib for treatment of patients with TNBC without gBRCA1/2 mutations. (2022) (0)
- Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2. (2023) (0)
- Reply to M.G. McNamara et al and M.S. Copur et al. (2015) (0)
- Trends in and determinants of germline BRCA1/2 testing in patients with breast and ovarian cancer. (2022) (0)
- Germline genetic testing for breast cancer: which patients? What genes? (2019) (0)
- Current Insights: Evolving Principles and Controversies of Cancer Risk Assessment and Management of Hereditary Cancers (2020) (0)
- A phase II single-arm trial of niraparib in platinum-sensitive metastatic castration-resistant prostate cancer with DNA repair defects (PLATPARP). (2023) (0)
- Abstract LB052: Cell cycle synchronization: Biomarker analysis in a phase I trial of alternating ribociclib and paclitaxel in advanced breast cancer (2021) (0)
- Abstract PO-151: Risk factors associated with breast cancer subtypes among Black women that have undergone screening mammography (2020) (0)
- Meeting the educational needs of women with triple-negative breast cancer (TNBC). (2015) (0)
- Occult ovarian cancers at the time of risk-reducing salpingo-oophorectomy in a prospective cohort of BRCA1/2 mutation carriers. (2009) (0)
- T143. Contribution of Mood Symptoms to Early Life Adversity Effects on Executive Function After Risk Reduction Salpingo-Oophorectomy (2018) (0)
- Abstract A003: Risks of ductal carcinoma in situ of the breast associated with pathogenic variants in cancer predisposition genes (2022) (0)
- Managing Patients With Moderate Penetrance Genes (2018) (0)
- Genome-wide association studies in women of African ancestry identified 3q26.21 as a novel susceptibility locus for oestrogen receptor negative breast cancer. (2016) (0)
- Fanconi anemia caused by biallelic inactivation of BRCA2 can present with an atypical cancer phenotype in adulthood (2022) (0)
- Polygenic Risk Scores for Prediction of Breast Cancer Risk in Women of African Ancestry: a Cross-Ancestry Approach (2021) (0)
- A counseling framework for moderate-penetrance colorectal cancer susceptibility genes (2018) (0)
- It's Not You, It's Me: Somatic and Germline Mutations Detected Through Routine Clinical Testing (2016) (0)
- Abstract P5-09-10: Preferences in educational topics of interest for women with breast cancer: Does income level influence topic preferences? (2016) (0)
- Author Correction: The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk (2017) (0)
- NBN Pathogenic Germline Variants are Associated with Pan-Cancer Susceptibility and In Vitro DNA Damage Response Defects (2022) (0)
- APOLLO: A randomized phase II double-blind study of olaparib versus placebo following curative intent therapy in patients with resected pancreatic cancer and a pathogenic BRCA1, BRCA2 or PALB2 mutation—ECOG-ACRIN EA2192. (2023) (0)
- Summary of the experiences, knowledge, medical management, and family communication of monoallelic MUTYH carriers (2022) (0)
- A breast cancer (BC) risk model incorporating Tyrer-Cuzick version 8 (TCv8) and a polygenic risk score (PRS) for diverse ancestries. (2022) (0)
- Abstract PD3-02: Polygenic risk scores provide clinically meaningful risk stratification among women carrying moderate penetrance pathogenic variants in breast cancer predisposition genes: Results from the CARRIERS study (2020) (0)
- Reply to Patel and McLeod. (2019) (0)
- Application o f B reast C ancer R isk P rediction M odels i n Clinical P ractice (2003) (0)
- The identification of reversion mutations in patients with advanced pancreatic cancer and germline or somatic BRCA or PALB2 variants who were treated with maintenance rucaparib. (2023) (0)
- Abstract 2606: Absence of association between common genetic polymorphisms in the TERT-CLPTM1L locus and breast cancer risk in women of African descent (2012) (0)
- Prostate Cancer Interim Results from the IMPACT Study : Evidence for Prostate-specific Antigen Screening in BRCA 2 Mutation Carriers (2019) (0)
- Selected topics in clinical oncology (2001) (0)
- Abstract CS1-3: Moderate penetrance mutations: What to do? (2019) (0)
- Inherited mutations in breast cancer patients with and without multiple primary cancers. (2018) (0)
- Examining patients’ medical and psychosocial experiences following detection of a CDH1 variant with multiplex genetic testing. (2018) (0)
- EMR documentation of genetics evaluations in patients with ovarian cancer. (2019) (0)
- Efficacy and safety of rucaparib treatment in patients with BRCA-mutated, relapsed ovarian cancer: final results from Study 10 (2022) (0)
- Abstract 1358: Are physician recommendations for BRCA 1/2 testing among breast cancer patients appropriate? A population based study. (2013) (0)
- Interest in and outcomes with web-based education for return of genetic research results for inherited susceptibility to breast cancer. (2018) (0)
- Olaparib and durvalumab in patients with relapsed small cell lung cancer (MEDIOLA): An open-label, multicenter, phase 1/2, basket study. (2023) (0)
- Olaparib efficacy in patients with germline BRCA-mutated, HER2-negative metastatic breast cancer: subgroup analyses from the phase III OlympiAD trial. (2023) (0)
- A randomized study of cash cards versus checks as clinician survey incentives (2020) (0)
- BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers (2017) (0)
- Rech in Concert with Immunotherapy in Cancer Patients CD 25 Blockade Depletes and Selectively Reprograms Regulatory T Cells (2012) (0)
- Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus (2016) (0)
- Abstract OT2-18-01: Harnessing olaparib, palbociclib, and endocrine therapy (HOPE): Phase I/II trial of olaparib, palbociclib and fulvestrant in patients with BRCA1/2-associated, hormone receptor-positive, HER2-negative metastatic breast cancer (2022) (0)
- Abstract B5: Cultural factors in obesity in African American women at increased risk for hereditary breast cancer (2008) (0)
- Abstract 773: Early detection of ovarian cancer using cell-free DNA fragmentomes (2023) (0)
- Abstract PS11-10: A Phase 1b/2 Study of the BET inhibitor ZEN003694 in combination with talazoparib for treatment of patients with TNBC without gBRCA1/2 mutations (2021) (0)
- Abstract P2-11-04: Education and information preferences for women with triple-negative breast cancer: Should personal or medical demographic variables impact program tailoring? (2015) (0)
- Abstract P2-09-01: Population-based risk estimates of clinical subtypes of breast cancer among carriers of germline pathogenic variants in cancer predisposition genes (2022) (0)
- Erratum to: Quantitative assessment of background parenchymal enhancement in breast MRI predicts response to risk-reducing salpingo-oophorectomy: preliminary evaluation in a cohort of BRCA1/2 mutation carriers (2015) (0)
- Abstract PD10-09: Development of a breast cancer risk assessment model forATMmutation carriers incorporating tyrer-cuzick and a polygenic risk score (PRS) (2021) (0)
- A descriptive study on the treatment and outcomes of patients with platinum-sensitive, advanced, BRCA- or PALB2-related pancreatic cancer who have progressed on rucaparib. (2022) (0)
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Other Resources About Susan Domchek
What Schools Are Affiliated With Susan Domchek?
Susan Domchek is affiliated with the following schools:
- Wayne State University
- University of Ibadan
- Johns Hopkins University
- Polytechnic University of Catalonia
- Temple University
- University of Cambridge
- University of Pennsylvania
- Harvard University
- Medical University of Vienna
- Institute of Cancer Research
- Autonomous University of Barcelona
- University of British Columbia
