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Italian Melanoma Case-Control Study

Maria T Landi

3 Collaborator(s)

Funding source

National Cancer Institute (NIH)
NCI investigators conducted a small case-control study of cutaneous malignant melanoma (CMM) in Italy. Subjects with low DNA repair capacity and self-reported and colorimeter-based fair pigmentation had increased CMM risk. MC1R single nucleotide polymorphisms were strongly associated with CMM risk and progression, and with BRAF mutations in melanomas. To extend the study sample size, investigators collected and harmonized several case-control and family studies from Italy, Spain and the United States, with data and biospecimens from approximately 6,000 subjects overall. They are investigating the role of DNA repair and telomere- and immune-related genes. Preliminary results from the telomere-related genes show suggestive associations with CMM risk, nevus count, and presence of dysplastic nevi. In addition, by sequencing the MITF gene in a subset of subjects, investigators identified 15 rare melanoma-specific variants, which are being validated in the larger Mediterranean study and other studies from the United States and Australia.

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