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Author Details

Susan M Domchek
1992
386
83
PMIDPaper TitleJournal TitlePublished Year
37939124Olaparib plus Durvalumab, with or without Bevacizumab, as Treatment in PARP Inhibitor-Naïve Platinum-Sensitive Relapsed Ovarian Cancer: A Phase II Multi-Cohort Study.Clin Cancer Res2024
37097611Combination ATR (ceralasertib) and PARP (olaparib) Inhibitor (CAPRI) Trial in Acquired PARP Inhibitor-Resistant Homologous Recombination-Deficient Ovarian Cancer.Clin Cancer Res2023
36307055Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline.Ann Oncol2023
36245263Summary of the experiences, knowledge, medical management, and family communication of monoallelic MUTYH carriers.J Genet Couns2023
36089892Fanconi anemia caused by biallelic inactivation of BRCA2 can present with an atypical cancer phenotype in adulthood.Clin Genet2023
36346689NBN Pathogenic Germline Variants are Associated with Pan-Cancer Susceptibility and In Vitro DNA Damage Response Defects.Clin Cancer Res2023
36394867Avelumab Plus Talazoparib in Patients With BRCA1/2- or ATM-Altered Advanced Solid Tumors: Results From JAVELIN BRCA/ATM, an Open-Label, Multicenter, Phase 2b, Tumor-Agnostic Trial.JAMA Oncology2023
37856201NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024.J Natl Compr Canc Netw2023
37932730Protocol to evaluate sequential electronic health record-based strategies to increase genetic testing for breast and ovarian cancer risk across diverse patient populations in gynecology practices.Implement Sci2023
38010655Analysis of BRCA1- and BRCA2-Related Pancreatic Cancer and Survival.2023
37639653Development of an Electronic Health Record-Based Clinical Decision Support Tool for Patients With Lynch Syndrome.JCO Clin Cancer Inform2023
37611220Uptake of Genetic Research Results and Patient-Reported Outcomes With Return of Results Incorporating Web-Based Predisclosure Education.J Clin Oncol2023
36974724Clinical Impact of a Rapid Genetic Testing Model for Advanced Prostate Cancer Patients.J Urol2023
37410931WHAM - A prospective study of weight and body composition after risk-reducing bilateral salpingo-oophorectomy.2023
36971103Olaparib efficacy in patients with germline BRCA-mutated, HER2-negative metastatic breast cancer: Subgroup analyses from the phase III OlympiAD trial.2023
37146473Olaparib and durvalumab in patients with relapsed small cell lung cancer (MEDIOLA): An open-label, multicenter, phase 1/2, basket study.Lung Cancer2023
36893711OlympiAD 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
37015340Nationwide Trends and Determinants of Germline BRCA1/2 Testing in Patients With Breast and Ovarian Cancer.J Natl Compr Canc Netw2023
37132126Care after premenopausal risk-reducing salpingo-oophorectomy in high-risk women: Scoping review and international consensus recommendations.BJOG2023
36482193Efficacy and safety of rucaparib treatment in patients with BRCA-mutated, relapsed ovarian cancer: final results from Study 10.Br J Cancer2023
36748334Measuring high-risk parents' opinions about direct-to-consumer genetic testing for adult-onset inherited cancer syndromes in their adolescent and young adult children.J Genet Couns2023
37253112Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C.Cancer Res2023
36623243Contralateral Breast Cancer Risk Among Carriers of Germline Pathogenic Variants in <i>ATM</i>, <i>BRCA1</i>, <i>BRCA2</i>, <i>CHEK2</i>, and <i>PALB2</i>.J Clin Oncol2023
37535879Biallelic <i>BRCA</i> Loss and Homologous Recombination Deficiency in Nonbreast/Ovarian Tumors in Germline <i>BRCA1/2</i> Carriers.JCO Precis Oncol2023
37486343The Clinical Implications of Reversions in Patients with Advanced Pancreatic Cancer and Pathogenic Variants in BRCA1, BRCA2, or PALB2 after Progression on Rucaparib.Clin Cancer Res2023
37291133Identification of BRCA1/2 mutation female carriers using circulating microRNA profiles.Nat Commun2023
35242827<i>BRCA1/2</i> Mutations and Cardiovascular Function in Breast Cancer Survivors.Front Cardiovasc Med2022
36369506Ruxolitinib and exemestane for estrogen receptor positive, aromatase inhibitor resistant advanced breast cancer.npj Breast Cancer2022
36107166Impact of integrating genomic data into the electronic health record on genetics care delivery.Genet Med2022
35700704Cancer vaccines.Cancer Cell2022
36228963Overall survival in the OlympiA phase III trial of adjuvant olaparib in patients with germline pathogenic variants in BRCA1/2 and high-risk, early breast cancer.Ann Oncol2022
36344544Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.Nat Commun2022
35810751Niraparib plus nivolumab or niraparib plus ipilimumab in patients with platinum-sensitive advanced pancreatic cancer: a randomised, phase 1b/2 trial.Lancet Oncology, The2022
35554533Polygenic risk scores for prediction of breast cancer risk in women of African ancestry: a cross-ancestry approach.Hum Mol Genet2022
36205748Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.Genet Med2022
35736817Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay.Clin Cancer Res2022
36331239Development and Validation of a Breast Cancer Polygenic Risk Score on the Basis of Genetic Ancestry Composition.JCO Precis Oncol2022
36051752Reaching beyond family history as inclusion criteria for pancreatic cancer surveillance in high-risk populations.Genes and Cancer2022
35778289The increasing importance of pathology in modern clinical trial conduct: OlympiA as a case in point.Pathology2022
34173196Challenges and Opportunities in Engaging Primary Care Providers in BRCA Testing: Results from the BFOR Study.J Gen Intern Med2022
34906490Targeted BRCA1/2 population screening among Ashkenazi Jewish individuals using a web-enabled medical model: An observational cohort study.Genet Med2022
34906479Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.Genet Med2022
35201851<i>PTEN</i> Loss and <i>BRCA1</i> Promoter Hypermethylation Negatively Predict for Immunogenicity in BRCA-Deficient Ovarian Cancer.JCO Precis Oncol2022
34890045A randomized study of genetic education versus usual care in tumor profiling for advanced cancer in the ECOG-ACRIN Cancer Research Group (EAQ152).Cancer2022
34711450Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer.Eur Urol2022
34500047Analysis of mutation status and homologous recombination deficiency in tumors of patients with germline BRCA1 or BRCA2 mutations and metastatic breast cancer: OlympiAD.Ann Oncol2021
33972087What Happens After Menopause? (WHAM): A prospective controlled study of cardiovascular and metabolic risk 12 months after premenopausal risk-reducing bilateral salpingo-oophorectomy.Gynecologic Oncology2021
33970687Phase II Study of Maintenance Rucaparib in Patients With Platinum-Sensitive Advanced Pancreatic Cancer and a Pathogenic Germline or Somatic Variant in <i>BRCA1</i>, <i>BRCA2</i>, or <i>PALB2</i>.J Clin Oncol2021
34292776Risk of Late-Onset Breast Cancer in Genetically Predisposed Women.J Clin Oncol2021
34283078Blood Arsenic Levels as a Marker of Breast Cancer Risk among <i>BRCA1</i> Carriers.Cancers (Basel)2021
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