Abstract
Both genetic and environmental factors confer a significantly increased risk for cutaneous melanoma. This review discusses hereditary predisposition to the disease, focusing on the high-penetrance candidate genes INK4A/ARF and CDK4, and on pathogenetic mechanisms of mutations in those genes. As known mutations account for approximately 25 to 40% of melanoma families reported to date, it is clear that other melanoma genes and other mechanisms underlying predisposition remain to be discovered. Low penetrance susceptibility genes such as melanocortin 1 receptor and their modifying effect, also in concert with UV radiation, are likely to be implicated. Recent reports on a new candidate locus on chromosome 1p22 and somatic mutations in genes of the RAS-RAF-ERK signalling pathway raise interesting questions for further investigation.
Original language | English |
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Pages (from-to) | 114-126 |
Number of pages | 13 |
Journal | FORUM - Trends in Experimental and Clinical Medicine |
Volume | 13 |
Issue number | 2 |
Publication status | Published - 2003 |
Keywords
- ARF
- BRAF
- CDK4
- CDKN2A
- MC1R
- NRAS
ASJC Scopus subject areas
- Medicine(all)