SusanMDomchekMD

PubMed

• Clinical management of TP53 mosaic variants found on germline genetic testing.
  Abigail Ward, Dana Farengo-Clark, Danielle B McKenna, Madeline Good, Anh Le, Lisa Kessler, Katherine L Nathanson, Jacquelyn Powers, Anton Safonov, Payal D Shah, Angela...> ;Cancer Genetics. 2024 Apr 23
• Prevalence of H. pylori and gastric intestinal metaplasia in BRCA1 and BRCA2 carriers.
  Sarah Coughlin, Daniel Clay, Jordan Heiman, Kole H Buckley, Michaela Dungan, Michael G Daniel, Jose Ruiz, Kara N Maxwell, Galen Leung, Gregory G Ginsberg, Michael L Ko...> ;Cancer Prevention Research. 2024 Apr 20
• Advancing Cancer Interception.
  Susan M Domchek, Robert H Vonderheide> ;Cancer Discovery. 2024 Apr 4
• Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain.
  Chunling Hu, Huaizhi Huang, Jie Na, Carolyn Lumby, Mohamed Abozaid, Megan A Holdren, Tara J Rao, Rachid Karam, Tina Pesaran, Jamie D Weyandt, Christen M Csuy, Christin...> ;American Journal of Human Genetics. 2024 Mar 7
• Large-scale genome-wide association study of 398,238 women unveils seven novel loci associated with high-grade serous epithelial ovarian cancer risk.
  Daniel R Barnes, Jonathan P Tyrer, Joe Dennis, Goska Leslie, Manjeet K Bolla, Michael Lush, Amber M Aeilts, Kristiina Aittomäki, Nadine Andrieu, Irene L Andrulis, Hoda...> ;Medrxiv. 2024 Mar 4
• Toward Application of Polygenic Risk Scores to Both Enhance and Deintensify Breast Cancer Screening.
  Kara N Maxwell, Susan M Domchek> ;Journal of Clinical Oncology. 2024 May 1
• Patient-Reported Outcomes in OlympiA: A Phase III, Randomized, Placebo-Controlled Trial of Adjuvant Olaparib in gMutations and High-Risk Human Epidermal Growth Factor ...
  Patricia A Ganz, Hanna Bandos, Tanja Španić, Sue Friedman, Volkmar Müller, Sherko Kuemmel, Suzette Delaloge, Etienne Brain, Masakazu Toi, Hideko Yamauchi, Eduardo-M de...> ;Journal of Clinical Oncology. 2024 Apr 10
• 1 citations
  Olaparib plus Durvalumab, with or without Bevacizumab, as Treatment in PARP Inhibitor-Naïve Platinum-Sensitive Relapsed Ovarian Cancer: A Phase II Multi-Cohort Study.
  Drew, Y., Kim, J., Penson, R., O'Malley, D., Parkinson, C., Roxburgh, P., Plummer, R., Im, S., Imbimbo, M., Ferguson, M., Rosengarten, O., Steeghs, N., Kim, M., Gal-Ya...> ;Clinical Cancer Research. 2024 Jan 5
• Germline Genetic Testing for Hereditary Breast and Ovarian Cancer: Current Concepts in Risk Evaluation.
  Couch, F., Yadav, S., Domchek, S.> ;Cold Spring Harbor Perspectives in Medicine. 2023 Dec 27
• Protocol to evaluate sequential electronic health record-based strategies to increase genetic testing for breast and ovarian cancer risk across diverse patient populat...
  Heather Symecko, Robert Schnoll, Rinad S Beidas, Justin E Bekelman, Daniel Blumenthal, Anna-Marika Bauer, Peter Gabriel, Leland Boisseau, Abigail Doucette, Jacquelyn P...> ;Implementation Science. 2023 Nov 6
• Analysis of BRCA1- and BRCA2-Related Pancreatic Cancer and Survival.
  Ben Boursi, E Paul Wileyto, Ronac Mamtani, Susan M Domchek, Talia Golan, Ryan Hood, Kim A Reiss> ;JAMA Network Open. 2023 Nov 1
• 14 citations
  NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024.
  Mary B Daly, Tuya Pal, Kara N Maxwell, Jane Churpek, Wendy Kohlmann, Zahraa AlHilli, Banu Arun, Saundra S Buys, Heather Cheng, Susan M Domchek, Susan Friedman, Veda Gi...> ;Journal of the National Comprehensive Cancer Network. 2023 Oct 1
• Uptake of Genetic Research Results and Patient-Reported Outcomes With Return of Results Incorporating Web-Based Predisclosure Education.
  Madison Kilbride, Brian L Egleston, Wendy K Chung, Olufunmilayo Olopade, Kara N Maxwell, Payal Shah, Jane E Churpek, Linda Fleisher, Mary Beth Terry, Dominique Fetzer,...> ;Journal of Clinical Oncology. 2023 Nov 1
• Development of an Electronic Health Record-Based Clinical Decision Support Tool for Patients With Lynch Syndrome.
  Kelsey S Lau-Min, Joseph Bleznuck, Colin Wollack, Danielle B McKenna, Jessica M Long, Anna P Hubert, Mariah Johnson, Shavon E Rochester, Gillain Constantino, Christina...> ;JCO Clinical Cancer Informatics. 2023 Aug 1
• 2 citations
  BiallelicLoss and Homologous Recombination Deficiency in Nonbreast/Ovarian Tumors in GermlineCarriers.
  Dylane Wineland, Anh N Le, Ryan Hausler, Gregory Kelly, Emanuel Barrett, Heena Desai, Bradley Wubbenhorst, John Pluta, Paul Bastian, Heather Symecko, Kurt D'Andrea, Ab...> ;JCO Precision Oncology. 2023 Aug 1
• The Clinical Implications of Reversions in Patients with Advanced Pancreatic Cancer and Pathogenic Variants in BRCA1, BRCA2, or PALB2 after Progression on Rucaparib.
  Arielle Yablonovitch, Jacob E Till, Jennifer Yen, Lesli A Kiedrowski, Ryan Hood, Mark H O'Hara, Ursina Teitelbaum, Erica L Carpenter, Katherine Nathanson, Susan M Domc...> ;Clinical Cancer Research. 2023 Dec 15
• 2 citations
  ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.
  Lenka Stolarova, Petra Kleiblova, Petra Zemankova, Barbora Stastna, Marketa Janatova, Jana Soukupova, Maria Isabel Achatz, Christine Ambrosone, Paraskevi Apostolou, Ba...> ;Clinical Cancer Research. 2023 Aug 15
• WHAM-A Prospective Study of Weight and Body Composition After Risk-Reducing Bilateral Salpingo-oophorectomy.
  Sue Finch, Efrosinia Krejany, Hongyuan Jiang, Ashwini Kale, Susan Domchek, David Wrede, John D Wark, Martha Hickey, Price, S.> ;The Journal of Clinical Endocrinology and Metabolism. 2023 Dec 21
• 3 citations
  Identification of BRCA1/2 mutation female carriers using circulating microRNA profiles.
  Kevin Elias, Urszula Smyczynska, Konrad Stawiski, Zuzanna Nowicka, James Webber, Jakub Kaplan, Charles Landen, Jan Lubinski, Asima Mukhopadhyay, Dona Chakraborty, Deni...> ;Nature Communications. 2023 Jun 8
• 1 citations
  Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C.
  Chunling Hu, Anil Belur Nagaraj, Hermela Shimelis, Gemma Montalban, Kun Y Lee, Huaizhi Huang, Carolyn A Lumby, Jie Na, Lisa R Susswein, Maegan E Roberts, Megan L Marsh...> ;Cancer Research. 2023 Aug 1
• 3 citations
  PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants.
  Taru A Muranen, Anna Morra, Sofia Khan, Daniel R Barnes, Manjeet K Bolla, Joe Dennis, Renske Keeman, Goska Leslie, Michael T Parsons, Qin Wang, Thomas U Ahearn, Kristi...> ;NPJ Breast Cancer. 2023 May 12
• 5 citations
  Care after premenopausal risk-reducing salpingo-oophorectomy in high-risk women: Scoping review and international consensus recommendations.
  Denise R Nebgen, Susan M Domchek, Joanne Kotsopoulos, Joanne A de Hullu, Emma J Crosbie, Vincent Singh Paramanandam, Monique M A Brood-van Zanten, Barbara M Norquist, ...> ;BJOG. 2023 Nov 1
• 4 citations
  Combination ATR (ceralasertib) and PARP (olaparib) Inhibitor (CAPRI) Trial in Acquired PARP Inhibitor-Resistant Homologous Recombination-Deficient Ovarian Cancer.
  Stephanie L Wethington, Payal D Shah, Lainie Martin, Janos L Tanyi, Nawar Latif, Mark Morgan, Drew A Torigian, Diego Rodriguez, Simon A Smith, Emma Dean, Susan M Domch...> ;Clinical Cancer Research. 2023 Aug 1
• 5 citations
  Olaparib and durvalumab in patients with relapsed small cell lung cancer (MEDIOLA): An open-label, multicenter, phase 1/2, basket study.
  Matthew G Krebs, Jean-Pierre Delord, Thomas R Jeffry Evans, Maja De Jonge, Sang-We Kim, Marie Meurer, Sophie Postel-Vinay, Jong-Seok Lee, Helen K Angell, Vidalba Roche...> ;Lung Cancer. 2023 Jun 1
• 5 citations
  Nationwide Trends and Determinants of Germline BRCA1/2 Testing in Patients With Breast and Ovarian Cancer.
  Kelsey S Lau-Min, Anne Marie McCarthy, Katherine L Nathanson, Susan M Domchek> ;Journal of the National Comprehensive Cancer Network. 2023 Apr 1
• Join now to see all

Journal Articles

• Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study  
  Susan M Domchek, Wendy K Chung, Patricia A Ganz, Robert L Nussbaum, Journal of the National Cancer Institute
• A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk  
  Patricia A Ganz, Amanda E Toland, Susan M Domchek, Tanja Pejovic, Clinical Cancer Research
• Ethical Implications of Direct-to-Consumer Hereditary Cancer Tests  
  Susan Domchek, MD, JAMA
• Functional Mechanisms Underlying Pleiotropic Risk Alleles at the 19p13.1 Breast–Ovarian Cancer Susceptibility Locus  
  Susan M Domchek, Beth Y Karlan, Katherine L Nathanson, Kenneth Offit, Banu K Arun, Andrew Berchuck, Patricia A Ganz, Douglas A Levine, Nature
• Join now to see all