AI Article Synopsis
- Host, environmental, and genetic factors influence cutaneous melanoma (CM) risk, with significant genetic determinants being mutations in CDKN2A, CDK4, and variants in the low-risk gene MC1R.
- In a study of 439 Italian individuals, MC1R variation, number of nevi, and childhood sunburns were found to double CM risk for those without CDKN2A mutations, whereas family history and atypical nevi heightened risk for those with CDKN2A mutations.
- Increased occupational sun exposure raised CM risk significantly for both groups (three to sixfold), emphasizing the impact of local environmental factors in Liguria.
Article Abstract
Host, environmental and genetic factors differently modulate cutaneous melanoma (CM) risk across populations. Currently, the main genetic risk determinants are germline mutations in the major known high-risk susceptibility genes, CDKN2A and CDK4, and variants of the low-risk gene MC1R, which is key in the pigmentation process. This case-control study aimed at investigating the influence of the main host and environmental risk factors and of MC1R variation on CM risk in 390 CDKN2A-negative and 49 CDKN2A-positive Italian individuals. Multivariate analysis showed that MC1R variation, number of nevi and childhood sunburns doubled CM risk in CDKN2A-negative individuals. In CDKN2A-positive individuals, family history of CM and presence of atypical nevi, rather than MC1R status, modified risk (20.75- and 2.83-fold, respectively). Occupational sun exposure increased CM risk (three to sixfold) in both CDKN2A-negative and CDKN2A-positive individuals, reflecting the occupational habits of the Ligurian population and the geographical position of Liguria.
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| http://dx.doi.org/10.1111/j.1600-0625.2012.01549.x | DOI Listing |
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