Susan M Domchek, MD
Basser Associate 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 Research Center
Department: Medicine
Contact information
3 West Perelman Center
3400 Civic Center Boulevard
Philadelphia, PA 19104
3400 Civic Center Boulevard
Philadelphia, PA 19104
Office: 215-615-3360
Fax: 215-615-3349
Fax: 215-615-3349
Education:
BA (Engineering Sciences)
Dartmouth College, 1990.
MD (Internal Medicine)
Harvard Medical School, 1995.
BA (Engineering Sciences)
Dartmouth College, 1990.
MD (Internal Medicine)
Harvard Medical School, 1995.
Post-Graduate Training
Intern, Internal Medicine , Massachusetts General Hospital, Boston, MA, 1995-1996.
Resident, Internal Medicine, Massachusetts General Hospital, Boston, MA, 1996-1998.
Clinical Fellow in Hematology and Oncology, Dana-Farber Cancer Institute, Boston, MA, 1998-2001.
Chief Medical Resident, Massachusetts General Hospital, Boston, MA, 2000-2000.
Intern, Internal Medicine , Massachusetts General Hospital, Boston, MA, 1995-1996.
Resident, Internal Medicine, Massachusetts General Hospital, Boston, MA, 1996-1998.
Clinical Fellow in Hematology and Oncology, Dana-Farber Cancer Institute, Boston, MA, 1998-2001.
Chief Medical Resident, Massachusetts General Hospital, Boston, MA, 2000-2000.
Certifications
American Board of Internal Medicine (Internal Medicine), 1998.
American Board of Internal Medicine (Medical Oncology), 2001.
American Board of Internal Medicine (Medical Oncology), 2011.
Permanent linkAmerican Board of Internal Medicine (Internal Medicine), 1998.
American Board of Internal Medicine (Medical Oncology), 2001.
American Board of Internal Medicine (Medical Oncology), 2011.
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
Tung N, Garber JE, Lincoln A, Domchek SM: Frequency of triple-negative breast cancer in BRCA1 mutation carriers: comparison between common Ashkenazi Jewish and other mutations. Journal of Clinical Oncology Oct 2012 Notes: Epub ahead of print.Halbert CH, Kessler L, Collier A, Weathers B, Stopfer J, Domchek S, McDonald JA: Low rates of African American participation in genetic counseling and testing for BRCA1/2 mutations: racial disparities or just a difference? Journal Of Genetic Counseling 21(5): 676-83, Oct 2012.
McElligott S, Field RI, Bristol-Demeter M, Domchek SM, Asch DA: How genetic variant libraries effectively extend gene testing patents: implications for intellectual property and for good clinical care. Journal Of Clinical Oncology 30(24): 2943-5, Aug 2012.
Chen F, Chen GK, Stram DO, Millikan RC, Ambrosone CB, John EM, Bernstein L, Zheng W, Palmer JR, Hu JJ, Rebbeck TR, Ziegler RG, Nyante S, Bandera EV, Ingles SA, Press MF, Ruiz-Narvaez EA, Deming SL, Rodriguez-Gil JL, Demichele A, Chanock SJ, Blot W, Signorello L, Cai Q, Li G, Long J, Huo D, Zheng Y, Cox NJ, Olopade OI, Ogundiran TO, Adebamowo C, Nathanson KL, Domchek SM, Simon MS, Hennis A, Nemesure B, Wu SY, Leske MC, Ambs S, Hutter CM, Young A, Kooperberg C, Peters U, Rhie SK, Wan P, Sheng X, Pooler LC, Van Den Berg DJ, Le Marchand L, Kolonel LN, Henderson BE, Haiman CA : A genome-wide association study of breast cancer in women of African ancestry. Human Genetics Aug 2012 Notes: Epub ahead of print.
Spurdle AB, Whiley PJ, Thompson B, Feng B, Healey S, Brown MA, Pettigrew C; kConFab, Van Asperen CJ, Ausems MG, Kattentidt-Mouravieva AA, van den Ouweland AM, Belgium Uv Consortium D, Lindblom A, Pigg MH, Schmutzler RK, Engel C, Meindl A; German Consortium of Hereditary Breast and Ovarian Cancer, Caputo S, Sinilnikova OM, Lidereau R; French COVAR group collaborators, Couch FJ, Guidugli L, Hansen TV, Thomassen M, Eccles DM, Tucker K, Benitez J, Domchek SM, Toland AE, Van Rensburg EJ, Wappenschmidt B, Borg A, Vreeswijk MP, Goldgar DE; on behalf of the ENIGMA Consortium: BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk. Journal Of Medical Genetics 49(8): 525-32, Aug 2012.
Ding YC, McGuffog L, Healey S, Friedman E, Laitman Y, Paluch-Shimon S, Kaufman B; for SWE-BRCA, Liljegren A, Lindblom A, Olsson H, Kristoffersson U, Stenmark-Askmalm M, Melin B, Domchek SM, Nathanson KL, Rebbeck TR, Jakubowska A, Lubinski J, Jaworska K, Durda K, Gronwald J, Huzarski T, Cybulski C, Byrski T, Osorio A, Cajal TR, Stavropoulou AV, Benítez J, Hamann U; for HEBON, Rookus M, Aalfs CM, de Lange JL, Meijers-Heijboer HE, Oosterwijk JC, van Asperen CJ, Gómez García EB, Hoogerbrugge N, Jager A, van der Luijt RB; for EMBRACE, Easton DF, Peock S, Frost D, Ellis SD, Platte R, Fineberg E, Evans DG, Lalloo F, Izatt L, Eeles R, Adlard J, Davidson R, Eccles D, Cole T, Cook J, Brewer C, Tischkowitz M, Godwin AK, Pathak H; for GEMO Study Collaborators, Stoppa-Lyonnet D, Sinilnikova OM, Mazoyer S, Barjhoux L, Léoné M, Gauthier-Villars M, Caux-Moncoutier V, de Pauw A, Hardouin A, Berthet P, Dreyfus H, Ferrer SF, Collonge-Rame MA, Sokolowska J, Buys S, Daly M, Miron A, Terry MB, Chung W, John EM, Southey M, Goldgar D, Singer CF, Tea MK, Gschwantler-Kaulich D, Fink-Retter A, Hansen TV, Ejlertsen B, Johannsson OT, Offit K, Sarrel K, Gaudet MM, Vijai J, Robson M, Piedmonte MR, Andrews L, Cohn D, Demars LR, Disilvestro P, Rodriguez G, Toland AE, Montagna M, Agata S, Imyanitov E, Isaacs C, Janavicius R, Lazaro C, Blanco I, Ramus SJ, Sucheston L, Karlan BY, Gross J, Ganz PA, Beattie MS, Schmutzler RK, Wappenschmidt B, Meindl A, Arnold N, Niederacher D, Preisler-Adams S, Gadzicki D, Varon-Mateeva R, Deissler H, Gehrig A, Sutter C, Kast K, Nevanlinna H, Aittomäki K, Simard J; for KConFab Investigators, Spurdle AB, Beesley J, Chen X, Tomlinson GE, Weitzel J, Garber JE, Olopade OI, Rubinstein WS, Tung N, Blum JL, Narod SA, Brummel S, Gillen DL, Lindor N, Fredericksen Z, Pankratz VS, Couch FJ, Radice P, Peterlongo P, Greene MH, Loud JT, Mai PL, Andrulis IL, Glendon G, Ozcelik H; for OCGN, Gerdes AM, Thomassen M, Jensen UB, Skytte AB, Caligo MA, Lee A, Chenevix-Trench G, Antoniou AC, Neuhausen SL; on behalf of Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). : A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers. Cancer Epidemiology, Biomarkers & Prevention 21(8): 1362-70, Aug 2012.
McDonald JA, Barg FK, Weathers B, Guerra CE, Troxel AM, Domchek S, : Understanding participation by African Americans in cancer genetics research. Journal of The National Medical Association 104(7-8): 324-30, Jul-Aug 2012.
Kirchhoff T, Gaudet MM, Antoniou AC, McGuffog L, Humphreys MK, Dunning AM, Bojesen SE, Nordestgaard BG, Flyger H, Kang D, Yoo KY, Noh DY, Ahn SH, Dork T, Schürmann P, Karstens JH, Hillemanns P, Couch FJ, Olson J, Vachon C, Wang X, Cox A, Brock I, Elliott G, Reed MW, Burwinkel B, Meindl A, Brauch H, Hamann U, Ko YD; GENICA Network, Broeks A, Schmidt MK, Van 't Veer LJ, Braaf LM, Johnson N, Fletcher O, Gibson L, Peto J, Turnbull C, Seal S, Renwick A, Rahman N, Wu PE, Yu JC, Hsiung CN, Shen CY, Southey MC, Hopper JL, Hammet F, Van Dorpe T, Dieudonne AS, Hatse S, Lambrechts D, Andrulis IL, Bogdanova N, Antonenkova N, Rogov JI, Prokofieva D, Bermisheva M, Khusnutdinova E, van Asperen CJ, Tollenaar RA, Hooning MJ, Devilee P, Margolin S, Lindblom A, Milne RL, Arias JI, Zamora MP, Benítez J, Severi G, Baglietto L, Giles GG; kConFab; AOCS Study Group, Spurdle AB, Beesley J, Chen X, Holland H, Healey S, Wang-Gohrke S, Chang-Claude J, Mannermaa A, Kosma VM, Kauppinen J, Kataja V, Agnarsson BA, Caligo MA, Godwin AK, Nevanlinna H, Heikkinen T, Fredericksen Z, Lindor N, Nathanson KL, Domchek SM; SWE-BRCA, Loman N, Karlsson P, Stenmark Askmalm M, Melin B, von Wachenfeldt A; HEBON, Hogervorst FB, Verheus M, Rookus MA, Seynaeve C, Oldenburg RA, Ligtenberg MJ, Ausems MG, Aalfs CM, Gille HJ, Wijnen JT, Gómez García EB; EMBRACE, Peock S, Cook M, Oliver CT, Frost D, Luccarini C, Pichert G, Davidson R, Chu C, Eccles D, Ong KR, Cook J, Douglas F, Hodgson S, Evans DG, Eeles R, Gold B, Pharoah PD, Offit K, Chenevix-Trench G, Easton DF; BCAC/CIMBA. : Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2. PLoS One 7(6): e35706, Jun 2012.
Jakubowska A, Rozkrut D, Antoniou A, Hamann U, Scott RJ, McGuffog L, Healy S, Sinilnikova OM, Rennert G, Lejbkowicz F, Flugelman A, Andrulis IL, Glendon G, Ozcelik H; OCGN, Thomassen M, Paligo M, Aretini P; SWE-BRCA, Kantala J, Aroer B, von Wachenfeldt A, Liljegren A, Loman N, Herbst K, Kristoffersson U, Rosenquist R, Karlsson P, Stenmark-Askmalm M, Melin B, Nathanson KL, Domchek SM, Byrski T, Huzarski T, Gronwald J, Menkiszak J, Cybulski C, Serrano P, Osorio A, Cajal TR, Tsitlaidou M, Benítez J, Gilbert M; HEBON, Rookus M, Aalfs CM, Kluijt I, Boessenkool-Pape JL, Meijers-Heijboer HE, Oosterwijk JC, van Asperen CJ, Blok MJ, Nelen MR, van den Ouweland AM, Seynaeve C, van der Luijt RB, Devilee P; EMBRACE, Easton DF, Peock S, Frost D, Platte R, Ellis SD, Fineberg E, Evans DG, Lalloo F, Eeles R, Jacobs C, Adlard J, Davidson R, Eccles D, Cole T, Cook J, Godwin A, Bove B; GEMO Study Collaborators, Stoppa-Lyonnet D, Caux-Moncoutier V, Belotti M, Tirapo C, Mazoyer S, Barjhoux L, Boutry-Kryza N, Pujol P, Coupier I, Peyrat JP, Vennin P, Muller D, Fricker JP, Venat-Bouvet L, Johannsson OT, Isaacs C, Schmutzler R, Wappenschmidt B, Meindl A, Arnold N, Varon-Mateeva R, Niederacher D, Sutter C, Deissler H, Preisler-Adams S, Simard J, Soucy P, Durocher F, Chenevix-Trench G, Beesley J, Chen X; KConFab, Rebbeck T, Couch F, Wang X, Lindor N, Fredericksen Z, Pankratz VS, Peterlongo P, Bonanni B, Fortuzzi S, Peissel B, Szabo C, Mai PL, Loud JT, Lubinski J; CIMBA, the Consortium of Investigators of Modifiers of BRCA1/2-Related Cancer. : Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study. British Journal Of Cancer 106(12): 2016-24, Jun 2012.
Nelson JA, Tchou J, Domchek S, Sonnad SS, Serletti JM, Wu LC. : Breast reconstruction in bilateral prophylactic mastectomy patients: factors that influence decision making. Journal Of Plastic, Reconstructive & Aesthetic Surgery May 2012 Notes: Epub ahead of print.
