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Page 1
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, Leslie G, Aalfs CM, Abugattas J, Adlard J, Agata S, Aittomäki K, Andrews L, Andrulis IL, Arason A, Arnold N, Arun BK, Asseryanis E, Auerbach L, Azzollini J, Balmaña J, Barile M, Barkardottir RB, Barrowdale D, Benitez J, Berger A, Berger R, Blanco AM, Blazer KR, Blok MJ, Bonadona V, Bonanni B, Bradbury AR, Brewer C, Buecher B, Buys SS, Caldes T, Caliebe A, Caligo MA, Campbell I, Caputo SM, Chiquette J, Chung WK, Claes KBM, Collée JM, Cook J, Davidson R, de la Hoya M, De Leeneer K, de Pauw A, Delnatte C, Diez O, Ding YC, Ditsch N, Domchek SM, Dorfling CM, Velazquez C, Dworniczak B, Eason J, Easton DF, Eeles R, Ehrencrona H, Ejlertsen B; EMBRACE; Engel C, Engert S, Evans DG, Faivre L, Feliubadaló L, Ferrer SF, Foretova L, Fowler J, Frost D, Galvão HCR, Ganz PA, Garber J, Gauthier-Villars M, Gehrig A; GEMO Study Collaborators; Gerdes AM, Gesta P, Giannini G, Giraud S, Glendon G, Godwin AK, Greene MH, Gronwald J, Gutierrez-Barrera A, Hahnen E, Hauke J… See abstract for full author list ➔ Rebbeck TR, et al. Among authors: thomas a. Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12. Hum Mutat. 2018. PMID: 29446198 Free PMC article.
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.
Li H, Engel C, de la 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; CIMBA Consortium. Li H, et al. Among authors: thomas a. Genet Med. 2022 Jan;24(1):119-129. doi: 10.1016/j.gim.2021.08.016. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906479 Free PMC article.
The predictive value of BRCA1 and BRCA2 mutation testing.
Bansal A, Critchfield GC, Frank TS, Reid JE, Thomas A, Deffenbaugh AM, Neuhausen SL. Bansal A, et al. Among authors: thomas a. Genet Test. 2000;4(1):45-8. doi: 10.1089/109065700316462. Genet Test. 2000. PMID: 10794360
Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing.
Shimelis H, LaDuca H, Hu C, Hart SN, Na J, Thomas A, Akinhanmi M, Moore RM, Brauch H, Cox A, Eccles DM, Ewart-Toland A, Fasching PA, Fostira F, Garber J, Godwin AK, Konstantopoulou I, Nevanlinna H, Sharma P, Yannoukakos D, Yao S, Feng BJ, Tippin Davis B, Lilyquist J, Pesaran T, Goldgar DE, Polley EC, Dolinsky JS, Couch FJ. Shimelis H, et al. Among authors: thomas a. J Natl Cancer Inst. 2018 Aug 1;110(8):855-862. doi: 10.1093/jnci/djy106. J Natl Cancer Inst. 2018. PMID: 30099541 Free PMC article.
The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds.
Tavtigian SV, Simard J, Rommens J, Couch F, Shattuck-Eidens D, Neuhausen S, Merajver S, Thorlacius S, Offit K, Stoppa-Lyonnet D, Belanger C, Bell R, Berry S, Bogden R, Chen Q, Davis T, Dumont M, Frye C, Hattier T, Jammulapati S, Janecki T, Jiang P, Kehrer R, Leblanc JF, Mitchell JT, McArthur-Morrison J, Nguyen K, Peng Y, Samson C, Schroeder M, Snyder SC, Steele L, Stringfellow M, Stroup C, Swedlund B, Swense J, Teng D, Thomas A, Tran T, Tranchant M, Weaver-Feldhaus J, Wong AK, Shizuya H, Eyfjord JE, Cannon-Albright L, Tranchant M, Labrie F, Skolnick MH, Weber B, Kamb A, Goldgar DE. Tavtigian SV, et al. Among authors: thomas a. Nat Genet. 1996 Mar;12(3):333-7. doi: 10.1038/ng0396-333. Nat Genet. 1996. PMID: 8589730
Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk.
Frank TS, Manley SA, Olopade OI, Cummings S, Garber JE, Bernhardt B, Antman K, Russo D, Wood ME, Mullineau L, Isaacs C, Peshkin B, Buys S, Venne V, Rowley PT, Loader S, Offit K, Robson M, Hampel H, Brener D, Winer EP, Clark S, Weber B, Strong LC, Thomas A, et al. Frank TS, et al. Among authors: thomas a. J Clin Oncol. 1998 Jul;16(7):2417-25. doi: 10.1200/JCO.1998.16.7.2417. J Clin Oncol. 1998. PMID: 9667259
Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer.
Couch FJ, Shimelis H, Hu C, Hart SN, Polley EC, Na J, Hallberg E, Moore R, Thomas A, Lilyquist J, Feng B, McFarland R, Pesaran T, Huether R, LaDuca H, Chao EC, Goldgar DE, Dolinsky JS. Couch FJ, et al. Among authors: thomas a. JAMA Oncol. 2017 Sep 1;3(9):1190-1196. doi: 10.1001/jamaoncol.2017.0424. JAMA Oncol. 2017. PMID: 28418444 Free PMC article.
A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer.
Wu L, Shi W, Long J, Guo X, Michailidou K, Beesley J, Bolla MK, Shu XO, Lu Y, Cai Q, Al-Ejeh F, Rozali E, Wang Q, Dennis J, Li B, Zeng C, Feng H, Gusev A, Barfield RT, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Auer PL, Barrdahl M, Baynes C, Beckmann MW, Benitez J, Bermisheva M, Blomqvist C, Bogdanova NV, Bojesen SE, Brauch H, Brenner H, Brinton L, Broberg P, Brucker SY, Burwinkel B, Caldés T, Canzian F, Carter BD, Castelao JE, Chang-Claude J, Chen X, Cheng TD, Christiansen H, Clarke CL; NBCS Collaborators; Collée M, Cornelissen S, Couch FJ, Cox D, Cox A, Cross SS, Cunningham JM, Czene K, Daly MB, Devilee P, Doheny KF, Dörk T, Dos-Santos-Silva I, Dumont M, Dwek M, Eccles DM, Eilber U, Eliassen AH, Engel C, Eriksson M, Fachal L, Fasching PA, Figueroa J, Flesch-Janys D, Fletcher O, Flyger H, Fritschi L, Gabrielson M, Gago-Dominguez M, Gapstur SM, García-Closas M, Gaudet MM, Ghoussaini M, Giles GG, Goldberg MS, Goldgar DE, González-Neira A, Guénel P, Hahnen E, Haiman CA, Håkansson N, Hall P, Hallberg E, Hamann U, Harrington P, Hein A, Hicks B, Hillemanns P, Hollestelle A, Hoover RN, Hopper JL, Huang G, Humphreys K, Hunter DJ, Jakubowska A, Janni W, John EM, Johnson N, Jones K,… See abstract for full author list ➔ Wu L, et al. Among authors: thomas a. Nat Genet. 2018 Jul;50(7):968-978. doi: 10.1038/s41588-018-0132-x. Epub 2018 Jun 18. Nat Genet. 2018. PMID: 29915430 Free PMC article.
9,873 results