An increasing number of studies have recently reported on associations between various candidate genes and skin cancer. Most plausible are reports of associations between genes involved in DNA repair and skin cancer. Patients with xeroderma pigmentosum (OMIM 278730), an autosomal recessive disorder characterized by mutation in one of a number of genes involved in nucleotide excision repair, have a grossly elevated risk of both melanoma and NMSC (often presenting in early childhood with multiple tumors). Various studies have recently reported associations between some of the genes implicated in xeroderma pigmento-sum and skin cancer (Dybdahl et al., 1999; Tomescu et al., 2001; Winsey et al., 2000), whilst other studies have reported on associations between polymorphisms in pathways that may play a role in oxidative damage control in skin in response to UVR (such as the glutathione transferases) (Lear et al., 1997; Ramsay et al., 2001) or skin immunity (tumour necrosis factor a) (Hajeer et al., 2000). The reported odds ratios for all these candidate gene studies have tended to be modest (<2) and some results have not been confirmed in other populations, and one suspects are likely to be due to chance.
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