A Model for Genetic Susceptibility: Melanoma
The purpose of this study is to better understand genetic susceptibility to melanoma and the
interactions of specific polymorphisms with each other and with environmental factors.
To accomplish this, buccal swabs or blood specimens from patients with melanoma (either
single primary or multiple primary) have been collected. Specimens will be prepared in the
Epidemiology Laboratory at MSKCC. They will be analyzed at MSKCC for INK4A (and functional
assays for DNA repair capacity when blood is available) and the melanocortin gene (MC1R), at
the University of North Carolina for polymorphisms in DNA repair genes and immune function
genes, at the University of Pennsylvania for polymorphisms in the melanocortin receptor gene
(MC1R) and immune function genes, and at the University of California (Irvine) for
polymorphisms in metabolizing genes (P450's and GST's). Samples will be banked at MSKCC and
the University of New Mexico. In order to perform this study, subjects from population-based
registries in the United States (New Jersey, North Carolina, Michigan, San Diego/Imperial
Counties), Canada (Cancer Care Ontario, British Columbia), Italy (Turin), Australia (New
South Wales, Tasmania), were interviewed, asked to provide blood or buccal swab samples and
asked to provide permission to obtain and review slides of their primary melanoma. This
study is now closed to accrual.
Observational Model: Case Control, Time Perspective: Prospective
Comparison of INK4A and CDK4 mutation status and DNA repair gene, metabolizing gene, immune function gene, and melanocortin receptor gene polymorphism status; Interactions between polymorphisms and sun exposure history; Interactions among polymorphisms.
Colin Begg, PhD
Memorial Sloan-Kettering Cancer Center
United States: Institutional Review Board
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