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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: montagna m. 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.
Different expressivity of BRCA1 and BRCA2: analysis of 179 Italian pedigrees with identified mutation.
Aretini P, D'Andrea E, Pasini B, Viel A, Mariani Costantini R, Cortesi L, Ricevuto E, Agata S, Bisegna R, Boiocchi M, Caligo MA, Chieco-Bianchi L, Cipollini G, Crucianelli R, D'Amico C, Federico M, Ghimenti C, De Giacomi C, De Nicolo A, Della Puppa L, Ferrari S, Ficorella C, Iandolo D, Manoukian S, Marchetti P, Marroni F, Menin C, Montagna M, Ottini L, Pensotti V, Pierotti M, Radice P, Santarosa M, Silingardi V, Turchetti D, Bevilacqua G, Presciuttini S. Aretini P, et al. Among authors: montagna m. Breast Cancer Res Treat. 2003 Sep;81(1):71-9. doi: 10.1023/a:1025428807472. Breast Cancer Res Treat. 2003. PMID: 14531499
Penetrances of breast and ovarian cancer in a large series of families tested for BRCA1/2 mutations.
Marroni F, Aretini P, D'Andrea E, Caligo MA, Cortesi L, Viel A, Ricevuto E, Montagna M, Cipollini G, Federico M, Santarosa M, Marchetti P, Bailey-Wilson JE, Bevilacqua G, Parmigiani G, Presciuttini S. Marroni F, et al. Among authors: montagna m. Eur J Hum Genet. 2004 Nov;12(11):899-906. doi: 10.1038/sj.ejhg.5201256. Eur J Hum Genet. 2004. PMID: 15340362 Free article.
Large genomic deletions inactivate the BRCA2 gene in breast cancer families.
Agata S, Dalla Palma M, Callegaro M, Scaini MC, Menin C, Ghiotto C, Nicoletto O, Zavagno G, Chieco-Bianchi L, D'Andrea E, Montagna M. Agata S, et al. Among authors: montagna m. J Med Genet. 2005 Oct;42(10):e64. doi: 10.1136/jmg.2005.032789. J Med Genet. 2005. PMID: 16199546 Free PMC article.
Prevalence of BRCA1 genomic rearrangements in a large cohort of Italian breast and breast/ovarian cancer families without detectable BRCA1 and BRCA2 point mutations.
Agata S, Viel A, Della Puppa L, Cortesi L, Fersini G, Callegaro M, Dalla Palma M, Dolcetti R, Federico M, Venuta S, Miolo G, D'Andrea E, Montagna M. Agata S, et al. Among authors: montagna m. Genes Chromosomes Cancer. 2006 Sep;45(9):791-7. doi: 10.1002/gcc.20342. Genes Chromosomes Cancer. 2006. PMID: 16715518
646 results