MC1R variation and melanoma risk in relation to host/clinical and environmental factors in CDKN2A positive and negative melanoma patients

Paola Ghiorzo, Luigina Bonelli, Lorenza Pastorino, William Bruno, Monica Barile, Virginia Andreotti, Sabina Nasti, Linda Battistuzzi, Marco Grosso, Giovanna Bianchi-Scarrà, Paola Queirolo

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)718-720
Number of pages3
JournalExperimental Dermatology
Volume21
Issue number9
DOIs
Publication statusPublished - Sep 2012

Keywords

  • CDKN2A
  • Cutaneous melanoma
  • MC1R
  • Nevi
  • Risk factors

ASJC Scopus subject areas

  • Dermatology
  • Molecular Biology
  • Biochemistry

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