Description of Research Expertise:
Breast cancer genetics
Breast cancer prevention and screening
Breast cancer immunotherapy clinical trials
Selected Publications:
Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Concepción Alonso‐Cerezo M, Arnold N, Auber B, Austin, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, Borg Å, Bortesi B, Brunet J, Bruzzone C, Bucksch K, Cagnoli G, Caldés T, Caliebe A, Caligo MA, Calvello M, Capone GL, Caputo SM, Carnevali I, Carrasco E, Caux‐Moncoutier V, Cavalli P, Cini G, Clarke EM, Concolino P, Cops EJ, Cortesi L, Couch FJ, Dean M: Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. Hum Matat : 2019.
Demissei BG, Finkelman BS, Hubbard RA, Zhang L, Smith AM, Sheline K, McDonald C, Narayan HK, Narayan V, Waxman AJ, Domchek SM, DeMichele A, Shah P, Clark AS, Bradbury AR, Carver JR, Upshaw J, Armenian SH, Liu P, Ky B.: Detailed phenotyping reveals distinct trajectories of cardiovascular function and symptoms with exposure to modern breast cancer therapy. Cancer : 2019.
Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Concepción Alonso‐Cerezo M, Arnold N, Auber B, Austin, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, Borg Å, Bortesi B, Brunet J, Bruzzone C, Bucksch K, Cagnoli G, Caldés T, Caliebe A, Caligo MA, Calvello M, Capone GL, Caputo SM, Carnevali I, Carrasco E, Caux‐Moncoutier V, Cavalli P, Cini G, Clarke EM, Concolino P, Cops EJ, Cortesi L, Couch FJ, Dean M: Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. Hum Matat : 2019.
Katona BW, Stadler ZK, Robson ME, Domchek SM., No abstract available.: BRCA1 and BRCA2 Gene Mutations and Colorectal Cancer Risk: Systematic Review and Meta-analysis. J Natl Cancer Inst 111 (5): 522-523,2019.
Kumar S, Katona BW, Long JM, Domchek S, Rustgi AK, Roses R, Ginsberg GG. 2019 May 8. PMID: [Epub ahead of print] (no abstract available): Endoscopic Ultrasound Has Limited Utility in Diagnosis of Gastric Cancer in Carriers of CDH1 Mutations. Clin Gastroenterol Hepatol : 2019.
Friebel TM, Andrulis IL, Balmaña J, Blanco AM, Couch FJ, Daly MB, Domchek SM, Easton DF, Foulkes WD, Ganz PA, Garber J, Glendon G, Greene MH, Hulick PJ, Isaacs C, Jankowitz RC, Karlan BY, Kirk J, Kwong A, Lee A, Lesueur F, Lu KH, Nathanson KL, Neuhausen SL, Offit K, Palmero EI, Sharma P, Tischkowitz M, Toland AE, Tung N, van Rensburg EJ, Vega A, Weitzel JN; GEMO Study Collaborators, Hoskins KF, Maga T, Parsons MT, McGuffog L, Antoniou AC, Chenevix-Trench G, Huo D, Olopade OI, Rebbeck TR.: BRCA1 and BRCA2 Pathogenic Sequence Variants in Women of African Origin or Ancestry. Hum Mutat : 2019.
Robson ME, Tung N, Conte P, Im SA, Senkus E, Xu B, Masuda N, Delaloge S, Li W, Armstrong A, Wu W, Goessl C, Runswick S, Domchek SM.: OlympiAD final overall survival and tolerability results: Olaparib versus chemotherapy treatment of physician's choice in patients with a germline BRCA mutation and HER2-negative metastatic breast cancer. Ann Oncol 4 (30): 558-566,2019.
Kraya AA1, Maxwell KN2, Wubbenhorst B1, Wenz BM1, Pluta J3, Rech AJ4, Dorfman LM1, Lunceford N5, Barrett A1, Mitra N1, Morrissette JJ6, Feldman M7, Nayak A8, Domchek SM9, Vonderheide RH10, Nathanson KL11.: Genomic signatures predict the immunogenicity of BRCA-deficient breast cancer. Clinical Cancer Research: An official Journal of the American Association for Cancer Research : 2019.
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.
Katona BW1, Stadler ZK2, 3, Robson ME2, 3, Domchek SM1: BRCA1 and BRCA2 Gene Mutations and Colorectal Cancer Risk: Systematic Review and Meta-analysis.
Author information
PMID: 30715414 DOI: 10.1093/jnci/djz012
Journal of National Cancer Institute : 2019.