Selected Publications
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. 3 (1): 119-124,2023.
Sessa C, Balmaña J, Bober SL, Cardoso MJ, Colombo N, Curigliano G, Domchek SM, Evans DG, Fischerova D, Harbeck N, Kuhl C, Lemley B, Levy-Lahad E, Lambertini M, Ledermann JA, Loibl S, Phillips KA, Paluch-Shimon S; ESMO Guidelines Committee. Electronic address: clinicalguidelines@esmo.org.: Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline Ann Oncol. 34 (2): 33-47,2023.
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 3 (12): 1250-1268,2022.
risteleit RS, Drew Y, Oza AM, Domchek SM, Banerjee S, Glasspool RM, Balmaña J, Chen LM, Patel MR, Burris HA, Safra T, Borrow J, Lin KK, Goble S, Maloney L, Shapira-Frommer R.: Efficacy and safety of rucaparib treatment in patients with BRCA-mutated, relapsed ovarian cancer: final results from Study 10 Br J Cancer. : 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.
Belhadj S, Khurram A, Bandlamudi C, Palou-Márquez G, Ravichandran V, Steinsnyder Z, Wildman T, Catchings A, Kemel Y, Mukherjee S, Fesko B, Arora K, Mehine M, Dandiker S, Izhar A, Petrini J, Domchek S, Nathanson KL, Brower J, Couch F, Stadler Z, Robson M, Walsh M, Vijai J, Berger M, Supek F, Karam R, Topka S, Offit K.: NBN pathogenic germline variants are associated with pan-cancer susceptibility and in vitro DNA damage response defects Clin Cancer Res. : 2022.
Shah JB, Pueschl D, Wubbenhorst B, Fan M, Pluta J, D'Andrea K, Hubert AP, Shilan JS, Zhou W, Kraya AA, Llop Guevara A, Ruan C, Serra V, Balmaña J, Feldman M, Morin PJ, Nayak A, Maxwell KN, Domchek SM, Nathanson KL., Nat Commun.: Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers Nat Commun 13 (1): 6728,2022.
Hughes E, Wagner S, Pruss D, Bernhisel R, Probst B, Abkevich V, Simmons T, Hullinger B, Judkins T, Rosenthal E, Roa B, Domchek SM, Eng C, Garber J, Gary M, Klemp J, Mukherjee S, Offit K, Olopade OI, Vijai J, Weitzel JN, Whitworth P, Yehia L, Gordon O, Pederson H, Kurian A, Slavin TP, Gutin A, Lanchbury JS.: Development and Validation of a Breast Cancer Polygenic Risk Score on the Basis of Genetic Ancestry Composition JCO Precis Oncol. : 2022.
Alison M. Schram, Nicoletta Colombo, Edward Arrowsmith, Vivek Narayan, Kan Yonemori, Giovanni Scambia, Amelia Zelnak, Todd M. Bauer, Ning Jin, Susanna V. Ulahannan, Marco Colleoni, Philippe Aftimos, Mark T. A. Donoghue, Ezra Rosen, Vasilisa A. Rudneva, Melinda L. Telli, Susan M. Domchek, Matthew D. Galsky, Margaret Hoyle, Colombe Chappey, Ross Stewart, John A. Blake-Haskins, Timothy A. Yap, : Avelumab Plus Talazoparib in Patients With BRCA1/2- or ATM-Altered Advanced Solid Tumors JAMA Oncol : 2022.
Makhlin I, McAndrew NP, Wileyto EP, Clark AS, Holmes R, Bottalico LN, Mesaros C, Blair IA, Jeschke GR, Fox KR, Domchek SM, Matro JM, Bradbury AR, Feldman MD, Hexner EO, Bromberg JF, DeMichele A.: Ruxolitinib and exemestane for estrogen receptor positive, aromatase inhibitor resistant advanced breast cancer NPJ Breast Cancer 8 (1): 122,2022.
Academic Contact Information
Division of Hematology Oncology
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