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
Kalia SS, Boddicker NJ, Yadav S, Huang H, Na J, Hu C, Ambrosone CB, Yao S, Haiman CA, Chen F, John EM, Kurian AW, Guo B, Lindstrӧm S, Auer P, Lacey JV Jr, Neuhausen SL, Martinez ME, Sandler DP, O'Brien KM, Taylor JA, Teras LR, Hodge JM, Lori A, Bodelon C, Trentham-Dietz A, Burnside ES, Vachon CM, Winham SJ, Goldgar DE, Domchek SM, Nathanson KL, Weitzel JN, Couch FJ, Kraft P.: Development of a Breast Cancer Risk Prediction Model Integrating Monogenic, Polygenic, and Epidemiologic Risk. Cancer Epidemiol Biomarkers Prev. 33(11): 1490-1499, November 2024.Huang H, Couch RE, Karam R, Hu C, Boddicker N, Polley EC, Na J, Ambrosone CB, Yao S, Trentham-Dietz A, Eliassen AH, Penney K, Brantley K, Bodelon C, Teras LR, Hodge J, Patel A, Haiman CA, John EM, Neuhausen SL, Martinez E, Lacey JV, O'Brien KM, Sandler DP, Weinberg CR, Palmer JR, Bertrand KA, Vachon CM, Olson JE, Ruddy KE, Anton-Culver H, Ziogas A, Goldgar DE, Nathanson KL, Domchek SM, Weitzel JN, Kraft P, Dolinsky JS, Pesaran T, Richardson ME, Yadav S, Couch FJ.: Pathogenic variants in cancer susceptibility genes predispose to ductal carcinoma In situ of the breast. Clin Cancer Res. doi: 10.1158/1078-0432.CCR-24-1884.Epub ahead of print (eds.). November 2024.
Hickey M, Nguyen TL, Krejany EO, Domchek SM, Brand A, Hopper JL, Joffe H. : What happens after menopause? (WHAM): Impact of risk-reducing salpingo-oophorectomy on depressive and anxiety symptoms at 24 months. Gynecol Oncol. November 2024 Notes: doi: 10.1016/j.ygyno.2024.10.031. Epub ahead of print
Phillips KA, Kotsopoulos J, Domchek SM, Terry MB, Chamberlain JA, Bassett JK, Aeilts AM, Andrulis IL, Buys SS, Cui W, Daly MB, Eisen AF, Foulkes WD, Friedlander ML, Gronwald J, Hopper JL, John EM, Karlan BY, Kim RH, Kurian AW, Lubinski J, Metcalfe K, Nathanson KL, Singer CF, Southey MC, Symecko H, Tung N, Narod SA, Milne RL; Kathleen Cuningham: Foundation Consortium for Research Into Familial Breast Cancer, the Risk Factor Analysis of Hereditary Breast and Ovarian Cancer Study, the Basser Center University of Pennsylvania Registry, and the Breast Cancer Family Registry; Hormonal Contraception and Breast Cancer Risk for Carriers of Germline Mutations in BRCA1 and BRCA2. J Clin Oncol. October 2024 Notes: JCO2400176. doi: 10.1200/JCO.24.00176. Epub ahead of print
Phung L, Wood E, Egleston B, Hoffman-Andrews L, Ofidis D, Howe S, Mim R, Griffin H, Fetzer D, Owens A, Domchek S, Pyeritz R, Katona B, Kallish S, Sirugo G, Weaver J, Nathanson KL, Rader DJ, Bradbury AR.: Facilitating return of actionable genetic research results from a biobank repository: Participant uptake and utilization of digital interventions. HGG Adv. 5(4): 100346, October 2024.
Cheng HH, Shevach JW, Castro E, Couch FJ, Domchek SM, Eeles RA, Giri VN, Hall MJ, King MC, Lin DW, Loeb S, Morgan TM, Offit K, Pritchard CC, Schaeffer EM, Szymaniak BM, Vassy JL, Katona BW, Maxwell KN.: BRCA1, BRCA2, and Associated Cancer Risks and Management for Male Patients: A Review. JAMA Oncol. 10(9): 1272-1281, September 2024 Notes:
Medina JE, Annapragada AV, Lof P, Short S, Bartolomucci AL, Mathios D, Koul S, Niknafs N, Noe M, Foda ZH, Bruhm DC, Hruban C, Vulpescu NA, Jung E, Dua R, Canzoniero JV, Cristiano S, Adleff V, Symecko H, van den Broek D, Sokoll LJ, Baylin SB, Press MF, Slamon DJ, Konecny GE, Therkildsen C, Carvalho B, Meijer GA, Andersen CL, Domchek SM, Drapkin R, Scharpf RB, Phallen J, Lok CAR, Velculescu VE.: Early detection of ovarian cancer using cell-free DNA fragmentomes and protein biomarkers. Cancer Discov. September 2024 Notes: doi: 10.1158/2159-8290.CD-24-0393.Epub ahead of print
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. 14(8), August 2024.
Cheng HH, Shevach JW, Castro E, Couch FJ, Domchek SM, Eeles RA, Giri VN, Hall MJ, King MC, Lin DW, Loeb S, Morgan TM, Offit K, Pritchard CC, Schaeffer EM, Szymaniak BM, Vassy JL, Katona BW, Maxwell KN.: BRCA1, BRCA2, and Associated Cancer Risks and Management for Male Patients: A Review. JAMA Oncol July 2024 Notes: doi: 10.1001/jamaoncol.2024.2185.Epub ahead of print
Lau-Min KS, Symecko H, Spielman K, Mann D, Hood R, Rathore S, Wolfe C, Gabriel PE, Rendle KA, Nathanson KL, Reiss KA, Domchek SM.: Integration of Germline Genetic Testing Into Routine Clinical Practice for Patients With Pancreatic Adenocarcinoma JCO Oncol Pract. July 2024 Notes: doi: 10.1200/OP.24.00356.Epub ahead of print