Germline CDKN2A mutations in Brazilian patients of hereditary cutaneous melanoma

Author(s):Show less -

Ribeiro de Avila, Alexandre Leon ^[1] ; Victorino Krepischi, Ana Cristina ^{[2, 3]} ; Moredo, Luciana Facure ^[1] ; Marques Aguiar, Talita Ferreira ^[2] ; da Silva, Felipe Carneiro ^[2] ; Soares de Sa, Bianca Costa ^[1] ; de Nobrega, Amanda Franca ^[4] ; Waddington Achatz, Maria Isabel ^{[4, 3]} ; Duprat, Joao Pedreira ^[1] ; Landman, Gilles ^[5] ; Carraro, Dirce Maria ^{[2, 3]}

Affiliation

^[1] AC Camargo Canc Ctr, Dept Skin Canc, Sao Paulo - Brazil

^[2] AC Camargo Canc Ctr, Int Res Ctr, Lab Genom & Mol Biol, Sao Paulo - Brazil

^[3] Natl Inst Sci & Technol Oncogen, Sao Paulo - Brazil

^[4] AC Camargo Canc Ctr, Dept Oncogenet, Sao Paulo - Brazil

^[5] Univ Fed Sao Paulo, Dept Pathol, Escola Paulista Med, Sao Paulo - Brazil

• Document type: Journal article
• Source: FAMILIAL CANCER; v. 13, n. 4, p. 645-649, DEC 2014.
• Web of Science Citations: 7

Abstract

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 p16(INK4a) 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. (AU)

• FAPESP's process: 08/57887-9 - National Institute of Oncogenomics
• Grantee: Luiz Paulo Kowalski
• Support Opportunities: Research Projects - Thematic Grants
• FAPESP's process: 07/04313-2 - Genetic and environmental risk factors to the development of melanoma in Latin America
• Grantee: Gilles Landman
• Support Opportunities: Regular Research Grants