Description of Research Expertise:
Breast cancer genetics
Breast cancer prevention and screening
Breast cancer immunotherapy clinical trials
Selected Publications:
Cruz C, Llop-Guevara A1, Garber JE, Arun BK1, Pérez Fidalgo JA, Lluch A, Telli ML, Fernández C, Kahatt C, Galmarini CM1, Soto-Matos A1, Alfaro V, Pérez de la Haza A, Domchek SM, Antolin S, Vahdat L, Tung NM, Lopez R, Arribas J, Vivancos A, Baselga J, Serra V, Balmaña J, Isakoff SJ.: Multicenter Phase II Study of Lurbinectedin in BRCA-Mutated and Unselected Metastatic Advanced Breast Cancer and Biomarker Assessment Substudy. Journal of Clinical Oncology : 2018.
MacFarland SP, Zelley K, Long JM, McKenna D, Mamula P, Domchek SM, Nathanson KL, Brodeur GM, Rustgi AK, Katona BW, Maxwell KN.: Earlier colorectal cancer screening may be necessary in patients with Li-Fraumeni Syndrome. Gastroenterology 5085 (18): 2018.
Murciano-Goroff YR, McCarthy AM, Bristol MN, Groeneveld P, Domchek SM, Motanya UN, Armstrong K.: Uptake of BRCA 1/2 and oncotype DX testing by medical and surgical oncologists. Breast Cancer Research Treatment 171 (1): 173-180,2018.
Francis PA1, Pagani O1, Fleming GF1, Walley BA1, Colleoni M1, Láng I1, Gómez HL1, Tondini C1, Ciruelos E1, Burstein HJ1, Bonnefoi HR1, Bellet M1, Martino S1, Geyer CE Jr1, Goetz MP1, Stearns V1, Pinotti G1, Puglisi F1, Spazzapan S1, Climent MA1, Pavesi L1, Ruhstaller T1, Davidson NE1, Coleman R1, Debled M1, Buchholz S1, Ingle JN1, Winer EP1, Maibach R1, Rabaglio-Poretti M1, Ruepp B1, Di Leo A1, Coates AS1, Gelber RD1, Goldhirsch A1, Collaborators:, Blacher L, Hiltbrunner A, Kammler R, Loibl S, Martinez J: Tailoring Adjuvant Endocrine Therapy for Premenopausal Breast Cancer. The New England Journal of Medicine 379 (2): 122-137,2018.
Yingchang Lu, Alicia Beeghly-Fadiel, Lang Wu, Xingyi Guo, Bingshan Li, Joellen M. Schildkraut, Hae Kyung Im, Yian Ann Chen, Jennifer B Permuth, Brett M. Reid, Jamie K. Teer, Kirsten B. Moysich, Irene L. Andrulis, Hoda Anton-Culver, Banu K Arun, Elisa V. Bandera, Rosa B Barkardottir, Daniel R. Barnes, Javier Benitez, Line Bjørge, James Brenton, Ralf Butzow, Trinidad Caldes, Maria A. Caligo, Ian G. Campbell, Jenny Chang-Claude, Kathleen B.M Claes, Fergus J. Couch, Daniel W. Cramer, Mary B. Daly, Anna DeFazio: A transcriptome-wide association study among 97,898 women to identify candidate susceptibility genes for epithelial ovarian cancer risk American Association for Cancer Research : 2018.
JL Chan, S Senapati, LNC Johnson, L DiGiovanni, C Voong, SF Butts, , S Domchek: Risk factors for sexual dysfunction in BRCA mutation carriers after risk-reducing salpingo-oophorectomy. Menopause : 2018.
Kilbride MK, Domchek SM, Bradbury AR: Ethical Implications of Direct-to-Consumer Hereditary Cancer Tests. JAMA Oncology : 2018.
Thiruchelvam PTR, Fisher CS, Leff DR, Domchek SM.: Pervasive genetic testing The Lancet 391 (10135): 2089-2091,2018.
Murciano-Goroff YR, McCarthy AM, Bristol MN, Domchek SM, Groeneveld PW, Motanya UN, Armstrong K.: Medical oncologists' willingness to participate in bundled payment programs BMC Health Services Research 18 (1): 391,2018.
Shroff RT, Hendifar A, McWilliams RR, Geva R, Epelbaum E, Rolfe L, Goble S, Lin KK, Biankin AV, Giordano H, Vonderheide RH, Domchek SM: Rucaparib Monotherapy in Patients with Pancreatic Cancer and a Known Deleterious BRCA Mutation JCO Precision Oncology : 2018.