New developments in melanoma genetics.

被引：35

作者：

Hayward N. ^{[1
]}

机构：

[1] Joint Experimental Oncology Programme of the Queensland Institute of Medical Research, University of Queensland and the Queensland Cancer Fund, PO Royal Brisbane Hospital, 4029, QLD

来源：

Current Oncology Reports | 2000年 / 2卷 / 4期

基金：

英国医学研究理事会;

关键词：

Melanoma; Plexiform Neurofibroma; Dysplastic Nevus; CDKN2A Mutation; Familial Melanoma;

D O I：

10.1007/s11912-000-0022-z

中图分类号：

学科分类号：

摘要：

Research over the last decade has unraveled many details of genetic susceptibility to melanoma. The most recent advances include the characterization of variants outside the coding region of the CDKN2A gene associated with melanoma predisposition. A mutation in the 5' untranslated region (UTR) of CDKN2A generates a novel upstream initiation codon that abrogates expression of p16, and a common polymorphism in the 3' UTR is associated with increasing familial risk of melanoma. Other studies have assessed CDKN2A mutation status and non-melanoma cancers, atypical nevi, and the development of multiple primary melanomas, and provided information valuable for screening of individuals who are at risk.

引用

页码：300 / 306

页数：6