Selected Publications
C. Sessa, J. Balmaña, S.L. Bober, M.J. Cardoso, N. Colombo, G. Curigliano, S.M. Domchek, D.G. Evans, D. Fischerova, N. Harbeck, C. Kuhl, B. Lemley, E. LevyLahad, M. Lambertini, J.A. Ledermann, S. Loibl, K.-A. Phillips, Paluch Shimon, on behalf of the ESMO Guidelines Committee: Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline Annals of Oncology : 2022.
Hakkaart C, Pearson JF, Marquart L, Dennis J, Wiggins GAR, Barnes DR, Robinson BA, Mace PD, Aittomäki K, Andrulis IL, Arun BK, Azzollini J, Balmaña J, Barkardottir RB, Belhadj S, Berger L, Blok MJ, Boonen SE, Borde J, Bradbury AR, Brunet J, Buys SS, Caligo MA, Campbell I, Chung WK, Claes KBM; GEMO Study Collaborators; EMBRACE Collaborators, Collonge-Rame MA, Cook J, Cosgrove C, Couch FJ, Daly MB, Dandiker S, Davidson R, de la Hoya M, de Putter R, Delnatte C, Dhawan M, Diez O, Ding YC, Domchek SM, Donaldson A, Eason J, Easton DF, Ehrencrona H, Engel C, Evans DG, Faust U, Feliubadaló L, Fostira F, Friedman E, Frone M, Frost D, Garber J, Gayther SA, Gehrig A, Gesta P, Godwin AK, Goldgar DE, Greene MH, Hahnen E, Hake CR, Hamann U, Hansen TVO, Hauke J, Hentschel J, Herold N, Honisch E, Hulick PJ, Imyanitov EN; SWE-BRCA Investigators; kConFab Investigators; HEBON Investigators, Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James PA, Janavicius R, John EM, Joseph V, Karlan BY, Kemp Z, Kirk J, Konstantopoulou I, Koudijs M, Kwong A, Laitman Y, Lalloo F, Lasset C, Lautrup C, Lazaro C, Legrand C, Leslie G, Lesueur F, Mai PL, Manoukian S, Mari V, Martens JWM, McGuffog L, Mebirouk N, Meindl A, Miller A, Montagna M, Moserle L, Mouret-Fourme E, Musgrave H, Nambot S, Nathanson KL, Neuhausen SL, Nevanlinna H, Yie JNY, Nguyen-Dumont T, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Osorio A, Ott CE, Park SK, Parsons MT, Pedersen IS, Peixoto A, Perez-Segura P, Peterlongo P, Pocza T, Radice P, Ramser J, Rantala J, Rodriguez GC, Rønlund K, Rosenberg EH, Rossing M, Schmutzler RK, Shah PD, Sharif S, Sharma P, Side LE, Simard J, Singer CF, Snape K, Steinemann D, Stoppa-Lyonnet D, Sutter C, Tan YY, Teixeira MR, Teo SH, Thomassen M, Thull DL, Tischkowitz M, Toland AE, Trainer AH, Tripathi V, Tung N, van Engelen K, van Rensburg EJ, Vega A, Viel A, Walker L, Weitzel JN, Wevers MR, Chenevix-Trench G, Spurdle AB, Antoniou AC, Walker LC.: Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers. Commun Biol. 5 (1): 1061,2022.
McKenna DB, Sanchez P, Powers J, Brower J, Wang L, Mueller R, Symecko H, Hamilton JG, Wildman T, Domchek SM, Couch FJ, Garber JE, Offit K, Robson ME, Katona BW.: Summary of the experiences, knowledge, medical management, and family communication of monoallelic MUTYH carriers. J Genet Couns. : 2022.
Li H, Engel C, Hoya M, Peterlongo P, Yannoukakos D, Livraghi L, Radice P, Thomassen M, Hansen TVO, Gerdes AM, Nielsen HR, Caputo SM, Zambelli A, Borg A, Solano A, Thomas A, Parsons MT, Antoniou AC, Leslie G, Yang X, Chenevix-Trench G, Caldes T, Kwong A, Pedersen IS, Lautrup CK, John EM, Terry MB, Hopper JL, Southey MC, Andrulis IL, Tischkowitz M, Janavicius R, Boonen SE, Kroeldrup L, Varesco L, Hamann U, Vega A, Palmero EI, Garber J, Montagna M, Van Asperen CJ, Foretova L, Greene MH, Selkirk T, Moller P, Toland AE, Domchek SM, James PA, Thorne H, Eccles DM, Nielsen SM, Manoukian S, Pasini B, Caligo MA, Lazaro C, Kirk J, Wappenschmidt B, Spurdle AB, Couch FJ, Schmutzler R, Goldgar DE; ENIGMA Consortium and CIMBA Consortium.: Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants. Genet Med. 24 (10): 2208,2022.
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 : 2022.
Lau-Min KS, McKenna D, Asher SB, Bardakjian T, Wollack C, Bleznuck J, Biros D, Anantharajah A, Clark DF, Condit C, Ebrahimzadeh JE, Long JM, Powers J, Raper A, Schoenbaum A, Feldman M, Steinfeld L, Tuteja S, VanZandbergen C, Domchek SM, Ritchie MD, Landgraf J, Chen J, Nathanson KL.: Impact of integrating genomic data into the electronic health record on genetics care delivery. Genet Med. : 2022.
Hu C, Susswein LR, Roberts ME, Yang H, Marshall ML, Hiraki S, Berkofsky-Fessler W, Gupta S, Shen W, Dunn CA, Huang H, Na J, Domchek SM, Yadav S, Monteiro ANA, Polley EC, Hart SN, Hruska KS, Couch FJ.: Classification of BRCA2 variants of uncertain significance (VUS) using an ACMG/AMP model incorporating a homology directed repair (HDR) functional assay. Clin Cancer Res 28 (17): 3742-3751,2022.
Gao G, Zhao F, Ahearn TU, Lunetta KL, Troester MA, Du Z, Ogundiran TO, Ojengbede O, Blot W, Nathanson KL, Domchek SM, Nemesure B, Hennis A, Ambs S, McClellan J, Nie M, Bertrand K, Zirpoli G, Yao S, Olshan AF, Bensen JT, Bandera EV, Nyante S, Conti DV, Press MF, Ingles SA, John EM, Bernstein L, Hu JJ, Deming-Halverson SL, Chanock SJ, Ziegler RG, Rodriguez-Gil JL, Sucheston-Campbell LE, Sandler DP, Taylor JA, Kitahara CM, O'Brien KM, Bolla MK, Dennis J, Dunning AM, Easton DF, Michailidou K, Pharoah PDP, Wang Q, Figueroa J, Biritwum R, Adjei E, Wiafe S; GBHS Study Team, Ambrosone CB, Zheng W, Olopade OI, García-Closas M, Palmer JR, Haiman CA, Huo D.: Polygenic Risk Scores for Prediction of Breast Cancer Risk in Women of African Ancestry: a Cross-Ancestry Approach Hum Mol Genet 31 (18): 3133-3143,2022.
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 Genet. : 2022.
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. : 2022.
Academic Contact Information
Division of Hematology Oncology
10th Floor, South Pavilion
Office #10-157
3400 Civic Center Boulevard
Philadelphia,
PA
19104
Phone: 215-662-7096
Patient appointments: 800-789-7366