Artículos de revistas
Germline CDKN2A mutations in Brazilian patients of hereditary cutaneous melanoma
Fecha
2014-07Registro en:
Familial Cancer, Dordrecht, p. on-line, jul. 2014
1573-7292
10.1007/s10689-014-9736-1
Autor
Ávila, Alexandre Leon Ribeiro de
Krepischi, Ana Cristina Victorino
Moredo, Luciana Facure
Aguiar, Talita Ferreira Marques
Silva, Felipe Carneiro da
Sá, Bianca Costa Soares de
Nóbrega, Amanda França de
Achatz, Maria Isabel Alves de Souza Waddington
Neto, Joao Pedreira Duprat
Landman, Gilles
Carraro, Dirce Maria
Institución
Resumen
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 performed by sequencing and multiplex ligation probe amplification. Germline CDKN2A mutations affecting p16INK4a were detected in 8 unrelated probands (13.6 %), including 7 familial cases and one patient with multiple melanomas; 4 out of 8 mutation carriers met the criteria for familial melanoma and had multiple primary lesions. Although this study adds to the literature on melanoma susceptibility in Latin America, it is limited by the small size of the cohort. Our findings suggest that stringent inclusion criteria led to a substantially increased rate of CDKN2A mutation detection. This consideration should be taken into account when referring patients for genetic screening in a setting of limited budget, such as in developing countries.