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
Zhang Y, Xu M, Yuan J, Hu Z, Jiang J, Sun Y, Huang J, Wang Y, Wang B, Shen J, Long M, Fan Y, Montone KT, Tanyi J, Kim SH, Tavana O, Vonderheide RH, Chan HM, Domchek S, Zhang L, Hu X. : Repression of PRMT activities sensitize human homologous recombination-proficient ovarian and breast cancer cells to PARP inhibitor treatment. Elife February 2026 Notes: 13:RP99225. doi: 10.7554/eLife.99225.Tung NM, Robson ME, Li T, Nanda R, Shah PD, Khoury K, Kimmick G, Santa-Maria C, Brufsky A, DeMeo M, Vieira JP, Carey LA, Wulf G, Domchek S, Krop IE, Wolff AC, Winer EP, Garber JE; Translational Breast Cancer Research Consortium (TBCRC). : TBCRC 048 (Olaparib Expanded) Expansion Cohorts: Phase II Study of Olaparib Monotherapy for Patients With Metastatic Breast Cancer With Germline Mutations in Germline Mutations in PALB2 or Somatic Mutations in BRCA1 or BRCA2. J. CLin Oncol January 2026 Notes: JCO2502075. doi: 10.1200/JCO-25-02075.[Epub ahead of print]
Domchek SM. : Therapeutic Considerations in Early-Stage, Estrogen Receptor-Positive, BRCA-Associated Breast Cancer. J Clin Oncol. January 2026 Notes: doi: 10.1200/JCO-25-02428.[Epub ahead of print]
Smyczynska U, Rycerz A, Kozlowska K, Symecko H, Brower J, Domchek SM, Elias K, Konstantinopoulos P, Apostolidou S, Menon U, Fendler W, Chowdhury D. : Comparative analysis of microRNA expression in serum and plasma in patients screened for BRCA1 or BRCA2 mutations. Biomark Res. 14(1): 9, January 2026.
Darrah KE, Hemker SL, Rawal Y, Goff NJ, Parker P, Ganesan G, Stratton CM, Oppenheimer K, Roberts E,Glick E, Banks N, Kumar A, Casadei S, Snyder MW, Nathanson K, Domchek SM, Starita LM, Olsen SK, Sung P, Kitzman JO, Bernstein KA. : High-throughput mapping of 6,888 RAD51D variants identifies distinct biochemical functions needed for homologous recombination and olaparib response. bioRxiv. January 2026 Notes: doi: 10.64898/2026.01.11.698865.[Preprint]
Hu X, Huang J, Yuan J, Sun Y, Wang Y, Hu Z, Jiang J, Wang Z, Wang B, Long M, Maxwell KN, Fan Y, Tanyi JL, Montone KT, Li H, Kim SH, Nathanson KL, Rebbeck TR, Domchek SM, Vonderheide RH, Zhang L. : Immune gene diversity and STING1 variants in shaping cancer immunity across different genetic ancestry populations. Cell Rep. 45(2), January 2026 Notes: doi: 10.1016/j.celrep.2025.116882. Epub ahead of print]
Hickey M, Tejada-Berges T, Domchek SM, Krejany EO, Brand A, Li P, Braat S, Kingsberg S. : Sexual Function, Activity and Distress 24 Months After Surgical Menopause: What Happens After Menopause (WHAM)-A Prospective Controlled Study. BJOG January 2026 Notes: doi:10.1111/1471-0528.70158. Epub ahead of print.
O'Brien KM, Keil AP, Taylor JA, Weinberg CR, Polley EC, Yadav S, Boddicker NJ, Hu C, Ambrosone CB, Anton-Culver H, Auer PL, Bodelon C, Brantley K, Burnside ES, Chen F, Domchek SM, Eliassen AH, Haiman CA, Hodge JM, Kraft P, Lacey JV, Lindstroem S, Martinez ME, Nathanson KL, Neuhausen SL, Olson JE, Palmer JR, Patel AV, Penney KL, Ruddy KJ, Scott CG, Teras LR, Trentham-Dietz A, Vachon CM, Weitzel JN, Yao S, Zirpoli G, Couch FJ, Sandler DP. : Pathogenic Variants, Family History, and Cumulative Risk of Breast Cancer in US Women. JAMA Oncol. 11(12): 458-1469, December 2025.
Mastaglio E, Egleston B, Lee KT, Fetzer D, Brown S, Domchek SM, Fleisher L, Wen KY, Wagner L, Roberts JS, Cacioppo C, Christiansen J, Howe S, Wood EM, Weinberg M, Karpink K, Selmani E, Feng J, John S, Schweickert K, McLeod B, Bradbury AR. : A Randomized Hybrid Type I Effectiveness-Implementation Study of an eHealth Delivery Alternative for Cancer Genetic Testing for Hereditary Cancer (eREACH2):study protocol. medRxiv November 2025 Notes: doi: 10.1101/2025.11.19.25340515.[Preprint]
O'Brien KM, Keil AP, Taylor JA, Weinberg CR, Polley EC, Yadav S, Boddicker NJ, Hu C, Ambrosone CB, Anton-Culver H, Auer PL, Bodelon C, Brantley K, Burnside ES, Chen F, Domchek SM, Eliassen AH, Haiman CA, Hodge JM, Kraft P, Lacey JV, Lindstroem S, Martinez ME, Nathanson KL, Neuhausen SL, Olson JE, Palmer JR, Patel AV, Penney KL, Ruddy KJ, Scott CG, Teras LR, Trentham-Dietz A, Vachon CM, Weitzel JN, Yao S, Zirpoli G, Couch FJ, Sandler DP.: Pathogenic Variants, Family History, and Cumulative Risk of Breast Cancer in US Women. JAMA Oncol Oct 2025.