Susan M Domchek, MD, FASCO
Basser Professor in Oncology
Director, Cancer Risk Evaluation Program, Abramson Cancer Center, University of Pennsylvania
Senior Fellow, Leonard Davis Institute of Health Economics, University of Pennsylvania
Executive Director, Basser Center for BRCA
Department: Medicine
Contact information
Division of Hematology Oncology
10th Floor, South Pavilion
Office #10-157
3400 Civic Center Boulevard
Philadelphia, PA 19104
10th Floor, South Pavilion
Office #10-157
3400 Civic Center Boulevard
Philadelphia, PA 19104
Office: 215-662-7096
Fax: 215-349-5314
Fax: 215-349-5314
Education:
BA (Engineering Sciences)
Dartmouth College, 1990.
MD (Internal Medicine)
Harvard Medical School, 1995.
Permanent linkBA (Engineering Sciences)
Dartmouth College, 1990.
MD (Internal Medicine)
Harvard Medical School, 1995.
Description of Research Expertise
Breast cancer geneticsBreast cancer prevention and screening
Breast cancer immunotherapy clinical trials
Description of Clinical Expertise
Breast cancer prevention, screening and treatmentBreast cancer genetics
Selected Publications
Maxwell KN, Domchek SM. : Toward Application of Polygenic Risk Scores to Both Enhance and Deintensify Breast Cancer Screening. J Clin Oncol. 42(13): 1462-1465, May 2024.Domchek SM, Vonderheide RH. : Advancing Cancer Interception. Cancer Discov. 14(4): 600-604, April 2024 Notes: doi: 10.1158/2159-8290.CD-24-0015. P
Ganz PA, Bandos H, Španić T, Friedman S, Müller V, Kuemmel S, Delaloge S, Brain E, Toi M, Yamauchi H, de Dueñas EM, Armstrong A, Im SA, Song CG, Zheng H, Sarosiek T, Sharma P, Geng C, Fu P, Rhiem K, Frauchiger-Heuer H, Wimberger P, t'Kint de Roodenbeke D, Liao N, Goodwin A, Chakiba-Brugère C, Friedlander M, Lee KS, Giacchetti S, Takano T, Henao-Carrasco F, Virani S, Valdes-Albini F, Domchek SM, Bane C, McCarron EC, Mita M, Rossi G, Rastogi P, Fielding A, Gelber RD, Scheepers ED, Cameron D,Garber J, Geyer CE, Tutt ANJ. : Patient-Reported Outcomes in OlympiA: A Phase III, Randomized, Placebo- Controlled Trial of Adjuvant Olaparib in gBRCA1/2 Mutations and High-Risk Human Epidermal Growth Factor Receptor 2-Negative Early Breast Cancer. J Clin Oncol. 42(11): 1288-1300, April 2024.
Niccum BA, Coughlin S, Clay D, Heiman J, Buckley KH, Dungan M, Daniel MG, Ruiz J, Maxwell KN, Domchek SM, Leung G, Ahmad NA, Ginsberg GG, Kochman ML, Katona BW. : Prevalence of H. Pylori and Gastric Intestinal Metaplasia in BRCA1 and BRCA2 Carriers Cancer Prev Res (Phila) April 2024 Notes: doi:10.1158/1940-6207.CAPR-24-0039. Epub ahead of print.
Ward A, Farengo-Clark D, McKenna DB, Safonov A, Good M, Le A, Kessler L, Shah PD, Bradbury AR, Domchek SM, Nathanson KL, Powers J, Maxwell KN. : Clinical Management of TP53 Mosaic Variants Found on Germline Genetic Testing. Cancer Genet. April 2024 Notes: doi: 10.1016/j.cancergen.2024.04.002. Epub ahead of print.
Barnes DR, Tyrer JP, Dennis J, Leslie G, Bolla MK, Lush M, Aeilts AM, Aittomäki K, Andrieu N, Andrulis IL, Anton-Culver H, Arason A, Arun BK, Balmaña J, Bandera EV, Barkardottir RB, Berger LPV, de Gonzalez AB, Berthet P, Białkowska K, Bjørge L, Blanco AM, Blok MJ, Bobolis KA, Bogdanova NV, Brenton JD, Butz H, Buys SS, Caligo A, Campbell I, Castillo C, Claes KBM; GEMO Study Collaborators; EMBRACE Collaborators; Colonna SV, Cook LS, Daly MB, Dansonka-Mieszkowska A, de la Hoya M, deFazio A, DePersia A, Ding YC, Domchek SM, Dörk T, Einbeigi Z, Engel C, Evans DG, Foretova L, Fortner RT, Fostira F, Foti MC, Friedman E, Frone MN, Ganz PA, Gentry-Maharaj A, Glendon G, Godwin AK, González-Neira A, Greene MH, Gronwald J, Guerrieri-Gonzaga A, Hamann U, Hansen TVO, Harris HR, Hauke J, Heitz F, Hogervorst FBL, Hooning MJ, Hopper JL, Huff CD, Huntsman DG, Imyanitov EN; kConFab Investigators; Izatt L, Jakubowska A, James PA, Janavicius R, John EM, Kar S, Karlan BY, Kennedy CJ, Kiemeney LALM, Konstantopoulou I, Kupryjanczyk J, Laitman Y, Lavie O, Lawrenson K, Lester J, Lesueur F, Lopez-Pleguezuelos C, Mai PL, Manoukian S, May T, McNeish IA, Menon U, Milne RL, Modugno F, Mongiovi JM, Montagna M, Moysich KB, Neuhausen SL, Nielsen FC, Noguès C, Oláh E, Olopade OI, Osorio A, Papi L, Pathak H, Pearce CL, Pedersen IS, Peixoto A, Pejovic T, Peng PC, Peshkin BN, Peterlongo P, Powell CB, Prokofyeva D, Pujana MA, Radice P, Rashid MU, Rennert G, Richenberg G, Sandler DP, Sasamoto N, Setiawan VW, Sharma P, Sieh W, Singer CF, Snape K, Sokolenko AP, Soucy P, Southey MC, Stoppa- Lyonnet D, Sutphen R, Sutter C, Teixeira MR, Terry KL, Thomsen LCV, Tischkowitz M, Toland AE, Van Gorp T, Vega A, Velez Edwards DR, Webb PM, Weitzel JN, Wentzensen N, Whittemore AS, Winham SJ,Wu AH, Yadav S, Yu Y, Ziogas A, Berchuck A, Couch FJ, Goode EL, Goodman MT, Monteiro AN, Offit K,Ramus SJ, Risch HA, Schildkraut JM, Thomassen M, Simard J, Easton DF, Jones MR, Chenevix-Trench G, Gayther SA, Antoniou AC, Pharoah PDP. : Large- Scale Genome-Wide Association Study of 398,238 Women Unveils Seven Novel Loci Associated with High-Grade Serous Epithelial Ovarian Cancer Risk. medRxiv (Preprint) March 2024 Notes: doi: 10.1101/2024.02.29.24303243.
Hu C, Huang H, Na J, Lumby C, Abozaid M, Holdren MA, Rao TJ, Karam R, Pesaran T, Weyandt JD, Csuy CM, Seelaus CA, Young CC, Fulk K, Heidari Z, Morais Lyra PC Jr, Couch RE, Persons B, Polley EC, Gnanaolivu RD, Boddicker NJ, Monteiro ANA, Yadav S, Domchek SM, Richardson ME, Couch FJ. : Functional Analysis and Clinical Classification of 462 Germline BRCA2 Missense Variants Affecting the DNA Binding Domain. Am J Hum Genet. 111(3): 584-593, March 2024.
Drew Y, Kim JW, Penson RT, O'Malley DM, Parkinson C, Roxburgh P, Plummer R, Im SA, Imbimbo M, Ferguson M, Rosengarten O, Steeghs N, Kim MH, Gal-Yam E, Tsoref D, Kim JH, You B, De Jonge M, Lalisang R, Gort E, Bastian S, Meyer K, Feeney L, Baker N, Ah-See ML, Domchek SM, Banerjee S; MEDIOLA Investigators. : Olaparib 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 Res 30 (1): 50-62, January 2024.
Yadav S, Couch FJ, Domchek SM. : Germline Genetic Testing for Hereditary Breast and Ovarian Cancer: Current Concepts in Risk Evaluation. Cold Spring Harb Perspect Med. December 2023 Notes: doi:10.1101/cshperspect.a041318. Epub ahead of print.
Symecko H, Schnoll R, Beidas RS, Bekelman JE, Blumenthal D, Bauer AM, Gabriel P, Boisseau L, Doucette A, Powers J, Cappadocia J, McKenna DB, Richardville R, Cuff L, Offer R, Clement EG, Buttenheim AM, Asch DA, Rendle KA, Shelton RC, Fayanju OM, Wileyto EP, Plag M, Ware S, Shulman LN, Nathanson KL, Domchek SM. : Protocol 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 Sci. 18(1): 57, November 2023 Notes: Free PMC article. TRIAL REGISTRATION: ClinicalTrials.gov. NCT05721326. Registered February 10, 2023. https://www. CLINICALTRIALS: gov/study/NCT05721326.