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The BRCA2 c.9004G>A (E2002K) [corrected] variant is likely pathogenic and recurs in breast and/or ovarian cancer families of French Canadian descent.
Cote S, Arcand SL, Royer R, Nolet S, Mes-Masson AM, Ghadirian P, Foulkes WD, Tischkowitz M, Narod SA, Provencher D, Tonin PN. Cote S, et al. Among authors: ghadirian p. Breast Cancer Res Treat. 2012 Jan;131(1):333-40. doi: 10.1007/s10549-011-1796-4. Epub 2011 Sep 27. Breast Cancer Res Treat. 2012. PMID: 21947752
Mutation analysis of the BRCA2 gene in 49 site-specific breast cancer families.
Phelan CM, Lancaster JM, Tonin P, Gumbs C, Cochran C, Carter R, Ghadirian P, Perret C, Moslehi R, Dion F, Faucher MC, Dole K, Karimi S, Foulkes W, Lounis H, Warner E, Goss P, Anderson D, Larsson C, Narod SA, Futreal PA. Phelan CM, et al. Among authors: ghadirian p. Nat Genet. 1996 May;13(1):120-2. doi: 10.1038/ng0596-120. Nat Genet. 1996. PMID: 8673090
242 results