Common genetic variants of MUTYH are not associated with cutaneous malignant melanoma: Application of molecular screening by means of high-resolution melting technique in a pilot case-control study

Abstract

MUTYH glycosylase recognizes the 8-oxoG:A mismatch and is able to excise the adenine base using proofreading mechanisms. Some papers have reported a strong association between cancer development or aggressiveness and MUTYH gene mutations. The aim of this study was to fnd a possible association between the most frequent MUTYH mutations and melanoma in the context of a case-control pilot study. One hundred ninety-fve melanoma patients and 195 healthy controls were matched for sex and age. Clinical and laboratory data were collected in a specifc database and all individuals were analyzed for MUTYH mutations by high-resolution melting and direct sequencing techniques. Men and women had signifcantly different distributions of tumor sites and phototypes. No signifcant associations were observed between the Y165C, G382D and V479F MUTYH mutations and risk of melanoma development or aggressiveness. Our preliminary fnd-ings therefore do not confrm a role for MUTYH gene mutations in the melanoma risk. Further studies are necessary for the assessment of MUTYH not only in melanoma but also other cancer types with the same embryonic origin, in the context of larger arrays studies of genes involved in DNA stability or integrity. © 2011 Wichtig Editore.