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
O'Mahony DG, Ramus SJ, Southey MC, Meagher NS, Hadjisavvas A, John EM, Hamann U, Imyanitov EN, Andrulis IL, Sharma P, Daly MB, Hake CR, Weitzel JN, Jakubowska A, Godwin AK, Arason A, Bane A, Simard J, Soucy P, Caligo MA, Mai PL, Claes KBM, Teixeira MR, Chung WK, Lazaro C, Hulick PJ, Toland AE, Pedersen IS; HEBON Investigators; Neuhausen SL, Vega A, de la Hoya M, Nevanlinna H, Dhawan M, Zampiga V, Danesi R, Varesco L, Gismondi V, Vellone VG, James PA, Janavicius R, Nikitina-Zake L, Nielsen FC, van Overeem Hansen T, Pejovic T, Borg A, Rantala J, Offit K, Montagna M, Nathanson KL, Domchek SM, Osorio A, García MJ, Karlan BY; GEMO Study Collaborators; De Fazio A, Bowtell D; AOCS Group; McGuffog L, Leslie G, Parsons MT, Dörk T, Speith LM, Dos Santos ES, da Costa AABA, Radice P, Peterlongo P, Papi L, Engel C, Hahnen E, Schmutzler RK, Wappenschmidt B, Easton DF, Tischkowitz M, Singer CF, Tan YY, Whittemore AS, Sieh W, Brenton JD, Yannoukakos D, Fostira F, Konstantopoulou I, Soukupova J,Vocka M; CZECANCA Consortium; Chenevix-Trench G, Pharoah PDP, Antoniou AC, Goldgar DE, Spurdle AB, Michailidou K; : Consortium of Investigators of Modifiers of BRCA1/2; Evidence- based Network for the Interpretation of Germline Mutant Alleles Consortium. Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2. Br J Cancer 128(12): 2283-2294, June 2023.Schram AM, Colombo N, Arrowsmith E, Narayan V, Yonemori K, Scambia G, Zelnak A, Bauer TM, Jin N, Ulahannan SV, Colleoni M, Aftimos P, Donoghue MTA, Rosen E, Rudneva VA, Telli ML, Domchek SM, Galsky MD, Hoyle M, Chappey C, Stewart R, Blake-Haskins JA, Yap TA. : Avelumab Plus Talazoparib in Patients With BRCA1/2- or ATM-Altered Advanced Solid Tumors: Results From JAVELIN BRCA/ATM, an Open-Label, Multicenter, Phase 2b, Tumor-Agnostic Trial. Erratum in: JAMA Oncol June 2023.
Krebs MG, Delord JP, Jeffry Evans TR, De Jonge M, Kim SW, Meurer M, Postel-Vinay S, Lee JS, Angell HK, Rocher-Ros V, Meyer K, Ah-See ML, Herbolsheimer P, Lai Z, Nunes A, Domchek SM. : Olaparib and durvalumab in patients with relapsed small cell lung cancer (MEDIOLA): An open-label, multicenter, phase 1/2, basket study. Lung Cancer June 2023.
Hu C, Belur Nagaraj A, Shimelis H, Montalban G, Lee KY, Huang H, Lumby CA, Na J, Susswein LR, Roberts ME, Marshall ML, Hiraki S, LaDuca H, Chao E, Yussuf A, Pesaran T, Neuhausen SL, Haiman CA, Kraft P, Lindström S, Palmer JR, Teras LR, Vachon CM, Yao S, Ong I, Nathanson KL, Weitzel JN, Boddicker N, Gnanaolivu R, Polley EC, Mer G, Cui G, Karam R, Richardson ME, Domchek SM, Yadav S, Hruska KS, Dolinsky J, Weroha SJ, Hart SN, Simard J, Masson JY, Pang YP, Couch FJ. : Functional and clinical characterization of variants of uncertain significance identifies a hotspot for inactivating missense variants in RAD51. C. Cancer Res. May 2023.
Nebgen DR, Domchek SM, Kotsopoulos J, de Hullu JA, Crosbie EJ, Paramanandam VS, Brood-van Zanten MMA, Norquist BM, Guise T, Rozenberg S, Kurian AW, Pederson HJ, Yuksel N, Michaelson-Cohen R, Bober SL, da Silva Filho AL, Johansen N, Guidozzi F, Evans DG, Menon U, Kingsberg SA, Powell CB, Grandi G, Marchetti C, Jacobson M, Brennan DJ, Hickey M. : Care after premenopausal risk-reducing salpingo-oophorectomy in high-risk women: Scoping review and international consensus recommendations. BJOG May 2023 Notes: Epub ahead of print.
Robson ME, Im SA, Senkus E, Xu B, Domchek SM, Masuda N, Delaloge S, Tung N, Armstrong A, Dymond M, Fielding A, Allen A, Conte P. O: OlympiAD extended follow-up for overall survival and safety: Olaparib versus chemotherapy treatment of physician's choice in patients with a germline BRCA mutation and HER2-negative metastatic breast cancer. Eur J Cancer 184: 39-47, May 2023.
Muranen TA, Morra A, Khan S, Barnes DR, Bolla MK, Dennis J, Keeman R, Leslie G, Parsons MT, Wang Q, Ahearn TU, Aittomäki K, Andrulis IL, Arun BK, Behrens S, Bialkowska K, Bojesen SE, Camp NJ, Chang-Claude J, Czene K, Devilee P; HEBON investigators; Domchek SM, Dunning AM, Engel C, Evans DG, Gago-Dominguez M, García-Closas M, Gerdes AM, Glendon G, Guénel P, Hahnen E, Hamann U, Hanson H, Hooning MJ, Hoppe R, Izatt L, Jakubowska A, James PA, Kristensen VN, Lalloo F, Lindeman GJ, Mannermaa A, Margolin S, Neuhausen SL, Newman WG, Peterlongo P, Phillips KA, Pujana MA, Rantala J, Rønlund K, Saloustros E, Schmutzler RK, Schneeweiss A, Singer CF, Suvanto M, Tan YY, Teixeira MR, Thomassen M, Tischkowitz M, Tripathi V, Wappenschmidt B, Zhao E, Easton DF, Antoniou AC, Chenevix-Trench G, Pharoah PDP, Schmidt MK, Blomqvist C, Nevanlinna H. : PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants. NPJ Breast Cancer 9(1): 37, May 2023.
Lau-Min KS, McCarthy AM, Nathanson KL, Domchek SM.: Nationwide Trends and Determinants of Germline BRCA1/2 Testing in Patients With Breast and Ovarian Cancer. J Natl Compr Canc Netw. 21(4): 351-358, April 2023.
Wethington SL, Shah PD, Martin L, Tanyi JL, Latif N, Morgan M, Torigian DA, Rodriguez D, Smith SA, Dean E, Domchek SM, Drapkin R, Shih IM, Brown EJ, Hwang WT, Armstrong DK, Gaillard S, Giuntoli R, Simpkins F. : Combination ATR (ceralasertib) and PARP (olaparib) Inhibitor (CAPRI) trial in acquired PARP-inhibitor-resistant homologous recombination deficient ovarian cancer. Clin Cancer Res April 2023 Notes: Epub ahead of Print.
McKenna DB, Sanchez P, Powers J, Brower J, Wang L, Mueller R, Symecko H, Hamilton JG, Gildman T, Domchek SM, Couch FJ, Garber JE, Offit K, Robson ME, Katona BW. : Summary of the experiences, knowledge, medical management, and family communication of monoallelic MUTYH carriers. J Genet Couns. 32(2): 342-350, April 2023.