Article
Germline CDKN2A mutations in Brazilian patients of hereditary cutaneous melanoma.
Familial cancer - 1 Dec 2014
de Ávila Alexandre Leon Ribeiro, Krepischi Ana Cristina Victorino, Moredo Luciana Facure, Aguiar Talita Ferreira Marques, da Silva Felipe Carneiro, de Sá Bianca Costa Soares, de Nóbrega Amanda França, Achatz Maria Isabel Waddington, Duprat João Pedreira, Landman Gilles, Carraro Dirce Maria
Abstract excerpt
Approximately 10 % of all cutaneous melanoma cases occur in a familial context. The major susceptibility gene for familial melanoma is CDKN2A. In Latin America, genetic studies investigating melanoma predisposition are scarce. The aim of this work was to investigate germline CDKN2A point mutations and genomic rearrangements in a cohort of 59 Brazilian melanoma-prone patients. Screening of CDKN2A alterations was...
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