Description of Research Expertise:
Breast cancer genetics
Breast cancer prevention and screening
Breast cancer immunotherapy clinical trials
Selected Publications:
outcomes in the multicenter Communication Of GENetic Test Results by Telephone study., Beri N1, 2, Patrick-Miller LJ3, Egleston BL4, Hall MJ5, Domchek SM1, 2, Daly MB5, Ganschow P6, Grana G7, Olopade OI3, Fetzer D1, 2, Brandt A1, 2, Chambers R8, Clark DF7, Forman A5, Gaber R6, Gulden C8, Horte J7, Long J1, 2, Lucas T6, Madaan S8, Mattie K7, McKenna D1, 2, Montgomery S5, Nielsen S8, Powers J1, 2, Rainey K5, Rybak C5, Savage M5, Seelaus C6, Stoll J8, Stopfer JE1, 2, Yao XS7, Bradbury AR1, 9, 2.: Preferences for in-person disclosure: Patients declining telephone disclosure characteristics and outcomes in the multicenter Communication Of GENetic Test Results by Telephone study Clin Genet 95 (2): 293-301,2019.
MacFarland SP1, Zelley K1, Long JM2, McKenna D2, Mamula P3, Domchek SM2, Nathanson KL4, Brodeur GM1, Rustgi AK5, Katona BW6, Maxwell KN3.: Earlier Colorectal Cancer Screening May Be Necessary In Patients With Li-Fraumeni Syndrome. Gatroenterology 156 (1): 273-274,2019.
Schwartz LA, Henry-Moss D, Egleston B, Patrick-Miller L, Markman E, Daly M, Tuchman L, Moore C, Rauch PK, Karpink K, Sands CB, Domchek SM, Bradbury AR.: Preventative Health and Risk Behaviors Among Adolescent Girls With and Without Family Histories of Breast Cancer. J Adolesc Health 64 (1): 116-123,2019.
Clark AS1, McAndrew NP2, Troxel A3, Feldman M4, Lal P5, Rosen M6, Burrell J7, Redlinger C8, Gallgher M9, Bradbury AR10, Domchek SM11, Fox KR12, O'Dwyer PJ13, DeMichele AM14.: Combination Paclitaxel and Palbociclib: Results of a Phase I Trial in Advanced Breast Cancer. Clin Cancer Res : 2019.
BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2., Cline MS1, Liao RG2, Parsons MT3, Paten B4, Alquaddoomi F5, 6, 7, Antoniou A8, Baxter S4, Brody L9, Cook-Deegan R10, Coffin A1, Couch FJ11, Craft B1, Currie R1, Dlott CC1, Dolman L12, den Dunnen JT13, Dyke SOM14, Domchek SM15, Easton D8, Fischmann Z1, Foulkes WD16, Garber J17, Goldgar D18, Goldman MJ1, Goodhand P12, Harrison S19, Haussler D1, 4, Kato K20, Knoppers B21, Markello C1, 4, 22, Nussbaum R23, Offit K24, Plon SE25: BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2. PLOS Genetics 14 (12): 2018.
Domchek SM.: Risk-Reducing Mastectomy in BRCA1 and BRCA2 Mutation Carriers: A Complex Discussion. The Journal of the American Medical Association(JAMA) : 2018.
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 36 (31): 3134-3143,2018.
Mendelian Randomization Study., Qian F1, Wang S2, 3, Mitchell J4, McGuffog L5, Barrowdale D5, Leslie G5, Oosterwijk JC6, Chung WK7, Evans DG8, Engel C9, 10, Kast K11, 12, Aalfs CM13, 14, 15, Adank MA16, Adlard J17, 12, Agnarsson BA18, 19, Aittomäki K20, Alducci E21, 12, Andrulis IL22, 23, Arun BK24, Ausems MGEM25, Azzollini J26, Barouk-Simonet E27, 28, Barwell J29, 30, Belotti M31, Benitez J32, Berger A33, Borg A34, 35, Bradbury AR36, Brunet J31, 37, 38, Buys SS39, Caldes T40, Caligo MA41, Campbell I42, 43: Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study. J Natl Cancer Inst. : 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.