Susan M Domchek, MD, FASCO

faculty photo
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
Office: 215-662-7096
Fax: 215-349-5314
Education:
BA (Engineering Sciences)
Dartmouth College, 1990.
MD (Internal Medicine)
Harvard Medical School, 1995.
Permanent link
 
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Description of Research Expertise

Breast cancer genetics
Breast cancer prevention and screening
Breast cancer immunotherapy clinical trials

Description of Clinical Expertise

Breast cancer prevention, screening and treatment
Breast cancer genetics

Selected Publications

Hasser E, Peshkin BN, Hamilton JG, Brower J, Ovadia H, Friedman Ross L, Sacca R, Tarini B, Domchek SM, Vittone S, Sleiman M Jr, Isaacs C, Knerr S, Wilfond BS, Tercyak KP. M PMID: : Measuring high-risk parents’ opinions about Direct-to-Consumer genetic testing for adult-onset inherited cancer syndromes in their adolescent and young adult children. J Genet Couns. February 2023 Notes: Epub ahead of print.

Sessa C, Balmaña J, Bober SL, Cardoso MJ, Colombo N, Curigliano G, Domchek SM, Evans DG, Fischerova D, Harbeck N, Kuhl C, Lemley B, Levy-Lahad E, Lambertini M, Ledermann JA, Loibl S, Phillips KA, Paluch-Shimon S; ESMO Guidelines Committee. Electronic address: clinicalguidelines@esmo.org. : Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline. Ann Oncol. 34(2): 33-47, January 2023 Notes: Epub 2022 Oct 25.

Yadav S, Boddicker NJ, Na J, Polley EC, Hu C, Hart SN, Gnanaolivu RD, Larson N, Holtegaard S, Huang H, Dunn CA, Teras LR, Patel AV, Lacey JV, Neuhausen SL, Martinez E, Haiman C, Chen F, Ruddy KJ, Olson JE, John EM, Kurian AW, Sandler DP, O'Brien KM, Taylor JA, Weinberg CR, Anton-Culver H, Ziogas A, Zirpoli G, Goldgar DE, Palmer JR, Domchek SM, Weitzel JN, Nathanson KL, Kraft P, Couch FJ. : Contralateral Breast Cancer Risk Among Carriers of Germline Pathogenic Variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2. J Clin Oncol. January 2023 Notes: CO2201239. Epub ahead of print.

Maxwell KN, Patel V, Nead KT, Merrill S, Clark D, Jiang Q, Wubbenhorst B, D'Andrea K, Cohen RB, Domchek SM, Morrissette JJD, Greenberg RA, Babushok DV, Nathanson KL. : Fanconi anemia caused by biallelic inactivation of BRCA2 can present with an atypical cancer phenotype in adulthood. Clin Gent. 3(1): 119-124, January 2023.

risteleit RS, Drew Y, Oza AM, Domchek SM, Banerjee S, Glasspool RM, Balmaña J, Chen LM, Patel MR, Burris HA, Safra T, Borrow J, Lin KK, Goble S, Maloney L, Shapira-Frommer R. : Efficacy and safety of rucaparib treatment in patients with BRCA-mutated, relapsed ovarian cancer: final results from Study 10. Br J Cancer. December 2022 Notes: doi: 10.1038/s41416-022-02022-y. Online ahead of print.

Geyer CE Jr, Garber JE, Gelber RD, Yothers G, Taboada M, Ross L, Rastogi P, Cui K, Arahmani A, Aktan G, Armstrong AC, Arnedos M, Balmaña J, Bergh J, Bliss J, Delaloge S, Domchek SM, Eisen A, Elsafy F, Fein LE, Fielding A, Ford JM, Friedman S, Gelmon KA, Gianni L, Gnant M, Hollingsworth SJ, Im SA, Jager A, Jóhannsson ÓÞ, Lakhani SR, Janni W, Linderholm B, Liu TW, Loman N, Korde L, Loibl S, Lucas PC, Marmé F, Martinez de Dueñas E, McConnell R, Phillips KA, Piccart M, Rossi G, Schmutzler R, Senkus E, Shao Z, Sharma P, Singer CF, Španić T, Stickeler E, Toi M, Traina TA, Viale G, Zoppoli G, Park YH, Yerushalmi R, Yang H, Pang D, Jung KH, Mailliez A, Fan Z, Tennevet I, Zhang J, Nagy T, Sonke GS, Sun Q, Parton M, Colleoni MA, Schmidt M, Brufsky AM, Razaq W, Kaufman B, Cameron D, Campbell C, Tutt ANJ; OlympiA Clinical Trial Steering Committee and Investigators.: Overall survival in the OlympiA phase III trial of adjuvant olaparib in patients with germline pathogenic variants in BRCA1/2 and high risk, early breast cancer. Annals of Oncology 3(12): 1250-1268, December 2022 Notes: Epub 2022 Oct 10.

Makhlin I, McAndrew NP, Wileyto EP, Clark AS, Holmes R, Bottalico LN, Mesaros C, Blair IA, Jeschke GR, Fox KR, Domchek SM, Matro JM, Bradbury AR, Feldman MD, Hexner EO, Bromberg JF, DeMichele A. : Ruxolitinib and exemestane for estrogen receptor positive, aromatase inhibitor resistant advanced breast cancer. NPJ Breast Cancer 8(1): 122, November 2022.

Shah JB, Pueschl D, Wubbenhorst B, Fan M, Pluta J, D'Andrea K, Hubert AP, Shilan JS, Zhou W, Kraya AA, Llop Guevara A, Ruan C, Serra V, Balmaña J, Feldman M, Morin PJ, Nayak A, Maxwell KN, Domchek SM, Nathanson KL. Nat Commun. : Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers. Nat Commun. Nat Commun. 13(1): 6728, November 2022.

Hughes E, Wagner S, Pruss D, Bernhisel R, Probst B, Abkevich V, Simmons T, Hullinger B, Judkins T, Rosenthal E, Roa B, Domchek SM, Eng C, Garber J, Gary M, Klemp J, Mukherjee S, Offit K, Olopade OI, Vijai J, Weitzel JN, Whitworth P, Yehia L, Gordon O, Pederson H, Kurian A, Slavin TP, Gutin A, Lanchbury JS. : Development and Validation of a Breast Cancer Polygenic Risk Score on the Basis of Genetic Ancestry Composition. JCO Precis Oncol. November 2022 Notes: 6:e2200084. doi: 10.1200/PO.22.00084.

Alison M. Schram, Nicoletta Colombo, Edward Arrowsmith, Vivek Narayan, Kan Yonemori, Giovanni Scambia, Amelia Zelnak, Todd M. Bauer, Ning Jin, Susanna V. Ulahannan, Marco Colleoni, Philippe Aftimos, Mark T. A. Donoghue, Ezra Rosen, Vasilisa A. Rudneva, Melinda L. Telli, Susan M. Domchek, Matthew D. Galsky, Margaret Hoyle, Colombe Chappey, Ross Stewart, John A. Blake-Haskins, Timothy A. Yap : Avelumab Plus Talazoparib in Patients With BRCA1/2- or ATM-Altered Advanced Solid Tumors. JAMA Oncol November 2022 Notes: e225218. doi: 10.1001/jamaoncol.2022.5218 [Epub ahead of print]

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Last updated: 04/21/2023
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