PURPOSE: @entity986 is the main high-risk @entity320 -susceptibility gene, but it has been poorly assessed in Latin America. We sought to analyze @entity986 and @entity22025 in @entity1 from Latin America with familial and sporadic multiple primary @entity320 (SMP) and compare the data with those for @entity1 from Spain to establish bases for @entity320 genetic counseling in Latin America. METHODS: @entity986 and @entity22025 were sequenced in 186 Latin American @entity1 from Argentina, Brazil, Chile, Mexico, and Uruguay, and in 904 Spanish @entity1 . Clinical and phenotypic data were obtained. RESULTS: Overall, 24 and 14% of @entity320 -prone families in Latin America and Spain, respectively, had mutations in @entity986 . Latin American families had @entity986 mutations more frequently (P = 0.014) than Spanish ones. Of @entity1 with SMP, 10% of those from Latin America and 8.5% of those from Spain had mutations in @entity986 (P = 0.623). The most recurrent @entity986 mutations were @entity70223 and p.G101W. Latin American @entity1 had fairer hair (P = 0.016) and skin (P < 0.001) and a higher prevalence of @entity22025 variants (P = 0.003) compared with Spanish @entity1 . CONCLUSION: The inclusion criteria for genetic counseling of @entity320 in Latin America may be the same criteria used in Spain, as suggested in areas with low to medium incidence, SMP with at least two @entity320 , or families with at least two cases among first- or second-degree relatives.Genet Med advance online publication 17 December 2015Genetics in Medicine (2015); doi:10.1038/gim.2015.160.

Characterization of individuals at high risk of developing XXXX in Latin America: bases for genetic counseling in @entity320 .

@entity1 :: ('9606', 'Species') :: ['patients'] @entity22025 :: ('4157', 'Gene') :: ['MC1R'] @entity986 :: ('1029', 'Gene') :: ['CDKN2A'] @entity70223 :: ('c|SUB|G|-34|T', 'DNAMutation') :: ['c.-34G>T'] @entity320 :: ('MESH:D008545', 'Disease') :: ['melanoma', 'melanomas']
@entity320 :: (MESH:D008545,Disease) :: ['melanoma']
