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Page 1
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: montagna m. 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.
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
Evaluation of widely used models for predicting BRCA1 and BRCA2 mutations.
Marroni F, Aretini P, D'Andrea E, Caligo MA, Cortesi L, Viel A, Ricevuto E, Montagna M, Cipollini G, Ferrari S, Santarosa M, Bisegna R, Bailey-Wilson JE, Bevilacqua G, Parmigiani G, Presciuttini S. Marroni F, et al. Among authors: montagna m. J Med Genet. 2004 Apr;41(4):278-85. doi: 10.1136/jmg.2003.013623. J Med Genet. 2004. PMID: 15060102 Free PMC article. No abstract available.
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
649 results