Selected Publications
Pace LE, Lee YS, Tung N, Hamilton JG, Gabriel C, Raja SC, Jenkins C, Braswell A, Domchek SM, Symecko H, Spielman K, Karlan BY, Lester J, Kamara D, Levin J, Morgan K, Offit K, Garber J, Keating NL.: Comparison of up-front cash cards and checks as incentives for participation in a clinician survey: a study within a trial. BMC Med Res Methodol. 20 (1): 210,2020.
Kara N. Maxwell, MD, PhD; Brandon M. Wenz, B; Abha Kulkarni, MPH; Bradley Wubbenhorst, MS; Kurt D’Andrea, BS;Benita Weathers, MPH; Noah Goodman, MPH; Joseph Vijai, PhD; Jenna Lilyquist, PhD, Steven N. Hart, PhD;...Susan M. Domchek, MD; and Katherine L. Nathanson, MD: Mutation Rates in Cancer Susceptibility Genes in Patients With Breast Cancer With Multiple Primary Cancers JCO Precision Oncology : 2020.
Domchek SM, Postel-Vinay S, Im SA, Park YH, Delord JP, Italiano A, Alexandre J, You B, Bastian S, Krebs MG, Wang D, Waqar SN, Lanasa M, Rhee J, Gao H, Rocher-Ros V, Jones EV, Gulati S, Coenen-Stass A, Kozarewa I, Lai Z, Angell HK, Opincar L, Herbolsheimer P, Kaufman B.: Olaparib and durvalumab in patients with germline BRCA-mutated metastatic breast cancer (MEDIOLA):an open-label, multicentre, phase 1/2, basket study. The Lancet Oncol. : 2020.
Gallagher S, Hughes E, Wagner S, Tshiaba P, Rosenthal E, Roa BB, Kurian AW, Domchek SM, Garber J, Lancaster J, Weitzel JN, Gutin A, Lanchbury JS, Robson M.: Association of a Polygenic Risk Score With Breast Cancer Among Women Carriers of High- And Moderate-Risk Breast Cancer Genes. JAMA 7 (3): 2020.
Silvestri V, Leslie G, Barnes DR; and the CIMBA Group, Agnarsson BA, Aittomäki K, Alducci E, Andrulis IL, Barkardottir RB, Barroso A, ...Domchek S...S Hamann U, Greene MH, Kirk JA, Neuhausen SL, Rebbeck TR, Tischkowitz M, Chenevix-Trench G, Antoniou AC, Friedman E, Ottini L.C: Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). JAMA Oncology : 2020.
Barnes DR, Rookus MA, McGuffog L, Leslie G, Mooij TM, Dennis J, Mavaddat N, Adlard J, Ahmed M, Aittomäki K, ...Domchek SM, ...Yannoukakos D, Zimbalatti D, Offit K, Thomassen M, Couch FJ, Schmutzler RK, Simard J, Easton DF, Chenevix-Trench G, Antoniou AC.: Consortium of Investigators of Modifiers of BRCA and BRCA2. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants. Genet Med. : 2020.
Powers J, Pinto EM, Barnoud T, Leung JC, Martynyuk T, Kossenkov AV, Phillips AH, Desai H, Hausler R, ...Domchek SM, ... Couch FJ, Levin B, Edelman MC, Fein Levy C, Spunt SL, Kriwacki RW, Zambetti GP, Ribeiro RC, Murphy ME, Maxwell KN.: A rare TP53 mutation predominant in Ashkenazi Jews confers risk of multiple cancers. Cancer Res. Cancer Res. : 2020.
Shah PD, Domchek SM.: The contemporary landscape of genetic testing and breast cancer: Emerging issues. Breast J. : 2020.
Domchek SM, Mardis E, Carlisle JW, Owonikoko TK.: Integrating Genetic and Genomic Testing Into Oncology Practice. American Society of Clinical Oncology Educational Book : 2020.
Zhang H, Ahearn TU, Lecarpentier J, Barnes D, Beesley J, Qi G, Jiang X, O'Mara TA, Zhao N, Bolla MK, Dunning AM, Dennis J, Wang Q, Ful ZA, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Arun BK, Auer PL, Azzollini J, Barrowdale D, Becher H, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bialkowska K, Blanco A, Blomqvist C, Bogdanova NV, Bojesen SE, Bonanni B, Bondavalli D, Borg A, Brauch H, Brenner H, Briceno I, Broeks A, Brucker SY, Brüning T, Burwinkel B, Buys SS, Byers H, Caldés T, Caligo MA, Calvello M, Campa D, Castelao JE, Chang-Claude J, Chanock SJ, Christiaens M, Christiansen H, Chung WK, Claes KBM, Clarke CL, Cornelissen S, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Diez O, Domchek SM, Dörk T, Dwek M, Eccles DM, Ekici AB, Evans DG, Fasching PA, Figueroa J, Foretova L, Fostira F, Friedman E, Frost D, Gago-Dominguez M, Gapstur SM, Garber J, García-Sáenz JA, Gaudet MM, Gayther SA, Giles GG, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Gronwald J, Guénel P, Häberle L, Hahnen E, Haiman CA, Hake CR, Hall P, Hamann U, Harkness EF, Heemskerk-Gerritsen BAM, Hillemanns P, Hogervorst FBL, Holleczek B, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Howell A, Huebner H, Hulick PJ, Imyanitov EN; kConFab Investigators; ABCTB Investigators, Isaacs C, Izatt L, Jager A, Jakimovska M, Jakubowska A, James P, Janavicius R, Janni W, John EM, Jones ME, Jung A, Kaaks R, Kapoor PM, Karlan BY, Keeman R, Khan S, Khusnutdinova E, Kitahara CM, Ko YD, Konstantopoulou I, Koppert LB, Koutros S, Kristensen VN, Laenkholm AV, Lambrechts D, Larsson SC, Laurent-Puig P, Lazaro C, Lazarova E, Lejbkowicz F, Leslie G, Lesueur F, Lindblom A, Lissowska J, Lo WY, Loud JT, Lubinski J, Lukomska A, MacInnis RJ, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez ME, Matricardi L, McGuffog L, McLean C, Mebirouk N, Meindl A, Menon U, Miller A, Mingazheva E, Montagna M, Mulligan AM, Mulot C, Muranen TA, Nathanson KL, Neuhausen SL, Nevanlinna H, Neven P, Newman WG, Nielsen FC, Nikitina-Zake L, Nodora J, Offit K, Olah E, Olopade OI, Olsson H, Orr N, Papi L, Papp J, Park-Simon TW, Parsons MT, Peissel B, Peixoto A, Peshkin B, Peterlongo P, Peto J, Phillips KA, Piedmonte M, Plaseska-Karanfilska D, Prajzendanc K, Prentice R, Prokofyeva D, Rack B, Radice P, Ramus SJ, Rantala J, Rashid MU, Rennert G, Rennert HS, Risch HA, Romero A, Rookus MA, Rübner M, Rüdiger T, Saloustros E, Sampson S, Sandler DP, Sawyer EJ, Scheuner MT, Schmutzler RK, Schneeweiss A, Schoemaker MJ, Schöttker B, Schürmann P, Senter L, Sharma P, Sherman ME, Shu XO, Singer CF, Smichkoska S, Soucy P, Southey MC, Spinelli JJ, Stone J, Stoppa-Lyonnet D; EMBRACE Study; GEMO Study Collaborators, Swerdlow AJ, Szabo CI, Tamimi RM, Tapper WJ, Taylor JA, Teixeira MR, Terry M, Thomassen M, Thull DL, Tischkowitz M, Toland AE, Tollenaar RAEM, Tomlinson I, Torres D, Troester MA, Truong T, Tung N, Untch M, Vachon CM, van den Ouweland AMW, van der Kolk LE, van Veen EM, vanRensburg EJ, Vega A, Wappenschmidt B, Weinberg CR, Weitzel JN, Wildiers H, Winqvist R, Wolk A, Yang XR, Yannoukakos D, Zheng W, Zorn KK, Milne RL, Kraft P, Simard J, Pharoah PDP, Michailidou K, Antoniou AC, Schmidt MK, Chenevix-Trench G, Easton DF, Chatterjee N, García-Closas M.: Genome-wide Association Study Identifies 32 Novel Breast Cancer Susceptibility Loci From Overall and Subtype-Specific Analyses. Nat Genet. : 2020.
Academic Contact Information
Division of Hematology Oncology
10th Floor, South Pavilion
Office #10-150
3400 Civic Center Boulevard
Philadelphia,
PA
19104
Phone: 215-615-3360
Patient appointments: 800-789-7366