Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families.

ABSTRACT:

Background

Two high-risk genes have been implicated in the development of CM (cutaneous melanoma). Germline mutations of the CDKN2A gene are found in < 25% of melanoma-prone families and there are only seven families with mutation of the CDK4 gene reported to date. Beside those high penetrance genes, certain allelic variants of the MC1R gene modify the risk of developing the disease.

The aims of our study were

to determine the prevalence of germline CDKN2A mutations and variants in members of families with familial CM and in patients with multiple primary CM; to search for possible CDK4 mutations, and to determine the frequency of variations in the MC1R gene.

Methods

From January 2001 until January 2007, 64 individuals were included in the study. The group included 28

SUBMITTER: Peric B 

PROVIDER: S-EPMC2556318 | biostudies-literature | 2008 Sep

REPOSITORIES: biostudies-literature