Brazilian Journals Publicações de Periódicos e Editora Ltda.
Abstract
Melanoma is a type of skin cancer very known for its aggressiveness and prognosis detected in the metastatic phases. Several mutations were identified, and in addition to the variations of this disease, predisposition has also been described in the CDKN2A gene. In the present study, 55 individuals had the CDKN2A gene sequenced and evaluated. Only one alteration was highlighted in one individual with melanoma, with this alteration being a substitution of guanine to adenine in position 436 (436 G>A), which affects exon 2 and leads to the alteration in the amino acid aspartate for an asparagine in codon 146 (Asp146Asn) from the CDKN2A gene. This found mutation is different from the ones related to the individuals in Brazil associated with the CDKN2A gene, and it is also not among the most common ones found in different countries and continents
