Description of Research Expertise:
Breast cancer genetics
Breast cancer prevention and screening
Breast cancer immunotherapy clinical trials
Selected Publications:
Domchek SM, Aghajanian C, Shapira-Frommer R, Schmutzler RK, Audeh MW, Friedlander M, Balmaña J, Mitchell G, Fried G, Stemmer SM, Hubert A, Rosengarten O, Loman N, Robertson JD, Mann H, Kaufman B.: Efficacy and safety of olaparib monotherapy in germline BRCA1/2 mutation carriers with advanced ovarian cancer and three or more lines of prior therapy. Gynecol Oncol. 10 : 1016,2015.
Meeks HD, Song H, Michailidou K, Bolla MK, Dennis J, Wang Q, Barrowdale D, Frost D; EMBRACE, McGuffog L, Ellis S, Feng B, Buys SS, Hopper JL, Southey MC, Tesoriero A; kConFab Investigators, James PA, Bruinsma F, Campbell IG; Australia Ovarian Cancer Study Group, Broeks A, Schmidt MK, Hogervorst FB; HEBON, Beckman MW, Fasching PA, Fletcher O, Johnson N, Sawyer EJ, Riboli E, Banerjee S, Menon U, Tomlinson I, Burwinkel B, Hamann U, Marme F, Rudolph A, Janavicius R, Tihomirova L, Tung N, Garber J, Cramer D, Ter: BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers. J Natl Cancer Inst. 2 : 108,2015.
Robson ME, Bradbury AR, Arun B, Domchek SM, Ford JM, Hampel HL, Lipkin SM, Syngal S, Wollins DS, Lindor NM.: American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility. J Clin Oncol. 31 : 33,2015.
Schmitz KH, Williams NI, Kontos D, Domchek S, Morales KH, Hwang WT, Grant LL, DiGiovanni L, Salvatore D, Fenderson D, Schnall M, Galantino ML, Stopfer J, Kurzer MS, Wu S, Adelman J, Brown JC, Good J.: Dose-response effects of aerobic exercise on estrogen among women at high risk for breast cancer: a randomized controlled trial. Breast Cancer Res Treat. 2 : 154,2015.
Wu S, Weinstein SP, DeLeo MJ, Conant EF, Chen J, Domchek SM, Kontos D.: Erratum to: Quantitative assessment of background parenchymal enhancement in breast MRI predicts response to risk-reducing salpingo-oophorectomy: preliminary evaluation in a cohort of BRCA1/2 mutation carriers. Breast Cancer Res. 17 : 144,2015.
Eccles DM, Mitchell G, Monteiro AN, Schmutzler R, Couch FJ, Spurdle AB, Gómez-García EB; ENIGMA Clinical Working Group.: BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance. Ann Oncol. 10 : 26,2015.
Rachel L. Yang, Rosemarie Mick, Kathreen Lee, Holly L. Graves, Katherine L. Nathanson, Susan M. Domchek, Rachel R. Kelz, Paul J. Zhang, and Brian J. Czernieck: DCIS in BRCA1 and BRCA2 mutation carriers: prevalence, phenotype, and expression of oncodrivers C-MET and HER3 J Transl Med. 13 : 335,2015.
Chai X, Domchek S, Kauff N, Rebbeck T, Chen J.: RE: Breast Cancer Risk After Salpingo-Oophorectomy in Healthy BRCA1/2 Mutation Carriers: Revisiting the Evidence for Risk Reduction. J Natl Cancer Inst. 9 : 107,2015.
Balmaña J, Domchek SM.: BRIP1 as an ovarian cancer susceptibility gene: ready for the clinic? J Natl Cancer Inst. 11 : 107,2015.
Wu S1,2, Weinstein SP3, DeLeo MJ 3rd4, Conant EF5, Chen J6, Domchek SM7, Kontos D8,9.: Quantitative assessment of background parenchymal enhancement in breast MRI predicts response to risk-reducing salpingo-oophorectomy: preliminary evaluation in a cohort of BRCA1/2 mutation carriers. Breast Cancer Research : 2015.