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Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer.
Domchek SM, Tang J, Stopfer J, Lilli DR, Hamel N, Tischkowitz M, Monteiro AN, Messick TE, Powers J, Yonker A, Couch FJ, Goldgar DE, Davidson HR, Nathanson KL, Foulkes WD, Greenberg RA. Domchek SM, et al. Among authors: hamel n. Cancer Discov. 2013 Apr;3(4):399-405. doi: 10.1158/2159-8290.CD-12-0421. Epub 2012 Dec 26. Cancer Discov. 2013. PMID: 23269703 Free PMC article.
On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations.
Hamel N, Feng BJ, Foretova L, Stoppa-Lyonnet D, Narod SA, Imyanitov E, Sinilnikova O, Tihomirova L, Lubinski J, Gronwald J, Gorski B, Hansen Tv, Nielsen FC, Thomassen M, Yannoukakos D, Konstantopoulou I, Zajac V, Ciernikova S, Couch FJ, Greenwood CM, Goldgar DE, Foulkes WD. Hamel N, et al. Eur J Hum Genet. 2011 Mar;19(3):300-6. doi: 10.1038/ejhg.2010.203. Epub 2010 Dec 1. Eur J Hum Genet. 2011. PMID: 21119707 Free PMC article.
BRCA mutations and ductal carcinoma in situ.
Foulkes WD, Hamel N, Oros KK, Tonin PN. Foulkes WD, et al. Among authors: hamel n. JAMA. 2005 Aug 3;294(5):553-4. doi: 10.1001/jama.294.5.553. JAMA. 2005. PMID: 16077047 No abstract available.
Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach.
Tischkowitz M, Hamel N, Carvalho MA, Birrane G, Soni A, van Beers EH, Joosse SA, Wong N, Novak D, Quenneville LA, Grist SA; kConFab; Nederlof PM, Goldgar DE, Tavtigian SV, Monteiro AN, Ladias JA, Foulkes WD. Tischkowitz M, et al. Among authors: hamel n. Eur J Hum Genet. 2008 Jul;16(7):820-32. doi: 10.1038/ejhg.2008.13. Epub 2008 Feb 20. Eur J Hum Genet. 2008. PMID: 18285836 Free PMC article.
123 results