Genetics of melanoma predisposition.

Abstract:

:Predisposition to melanoma is genetically heterogeneous. Two high penetrance susceptibility genes, CDKN2A and CDK4, have so far been identified and mapping is ongoing to localize and identify others. With the advent of a catalogue of millions of potential DNA polymorphisms, attention is now also being focused on identification of genes that confer a more modest contribution to melanoma risk, such as those encoding proteins involved in pigmentation, DNA repair, cell growth and differentiation or detoxification of metabolites. One such pigmentation gene, MC1R, has not only been found to be a low penetrance melanoma gene but has also been shown to act as a genetic modifier of melanoma risk in individuals carrying CDKN2A mutations. Most recently, an environmental agent, ultraviolet radiation, has also been established as a modifier of melanoma risk in CDKN2A mutation carriers. Hence, melanoma is turning out to be an excellent paradigm for studying gene-gene and gene-environment interactions.

journal_name

Oncogene

journal_title

Oncogene

authors

Hayward NK

doi

10.1038/sj.onc.1206445

subject

Has Abstract

pub_date

2003-05-19 00:00:00

pages

3053-62

issue

20

eissn

0950-9232

issn

1476-5594

pii

1206445

journal_volume

22

pub_type

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