Susan M Domchek, MD, FASCO, FAACR
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
Akamandisa MP, Boddicker NJ, Yadav S, Hu C, Hart SN, Ambrosone C, Anton-Culver H, Auer PL, Bodelon C, Burnside ES, Chen F, Eliassen AH, Goldgar DE, Haiman C, Hodge JM, Huang H, John EM, Karam R, Lacey JV, Lindstroem S, Martinez E, Na J, Neuhausen SL, O'Brien KM, Olson JE, Pal T, Palmer JR, Patel AV, Pesaran T, Polley EC, Richardson ME, Ruddy K, Sandler DP, Teras LR, Trentham-Dietz A, Vachon CM, Weinberg C, Winham SJ, Yao S, Zirpoli G, Kraft P, Weitzel JN, Domchek SM, Couch FJ, Nathanson KL. : Association of Gene Variant Type and Location with Breast Cancer Risk in the General Population. Ann Oncol. April 2025 Notes: S0923-7534(25)00170-X. doi: 10.1016/j.annonc.2025.04.010.Demarest K, Anantharajah A, Maxwell KN, Rohanizadegan M, Bradbury A, Nathanson KL, McCarthy AM, Domchek SM, Nayak A, Shah PD. : Pathogenic Germline Variants in Patients With Metaplastic Breast Cancer. JAMA Netw Open. 8(2), February 2025.
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. 21(2): 170-177, February 2025.
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; 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. 43(4): 422-431, Feb 2025.
ilbride MK, Peshkin BN, Hamilton JG, Brower J, Ovadia H, Friedman Ross L, Sacca R, Tarini B, Domchek SM, Vittone S, Sleiman MM Jr, Yockel MR, Salafia C, Isaacs C, Wilfond BS, Statman MR, Tercyak KP. : Pediatric DTC Genetic Testing for Adult-Onset Inherited Cancer Risk: The Perspectives of High-Risk Parents. Public Health Genomics 28(1): 102-112, February 2025.
Huang H, Hu C, Na J, Hart SN, Gnanaolivu RD, Abozaid M, Rao T, Tecleab YA; CARRIERS Consortium; Pesaran T, Lyra PCM, Karam R, Yadav S, Nathanson KL, Domchek SM, de la Hoya M, Robson M, Mehine M, Bandlamudi C, Mandelker D, Monteiro ANA, Iversen ES, Boddicker N, Chen W, Richardson ME, Couch FJ. : Functional evaluation and clinical classification of BRCA2 variants. Nature 638(8050): 528-537, February 2025.
Ghanem A, Domchek SM. 2025 : New Therapeutic Options for BRCA Mutant Patients. Annu Rev Med. 76(1): 175-187, January 2025.
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. 31(1): 130-138, January 2025.
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. 192: 1-7, January 2025.
Medina JE, Annapragada AV, Lof P, Short S, Bartolomucci AL, Mathios D, Koul S, Niknafs N, Noë 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. 15(1): 105-118, January 2025.