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Italian melanoma case-control

Maria T Landi

3 Collaborator(s)

Funding source

National Cancer Institute (NIH)
Cutaneous malignant melanoma (CMM) is the most fatal form of skin cancer. In a small case-control study conducted in Italy, subjects with low DNA repair capacity and self-reported and colorimeter-based fair pigmentation had increased CMM risk. MC1R SNPs were strongly associated with CMM risk and progression, and with BRAF mutations in melanomas.To extend the study sample size, we collected and harmonized several case-control and family studies from Italy, Spain and the US, with data and biospecimens from ~6,000 subjects overall. We began investigating the role of DNA repair, and telomere- and immune-related genes using an iSelect genotyping platform covering ~1300 genes, with replication and imputation in GWAS from other groups. Preliminary results from the telomere-related genes show suggestive associations with CMM risk (e.g., RECQL4), nevus count (e.g., RAD50) and presence of dysplastic nevi (DN) (e.g., RTEL1). In addition, by sequencing the MITF gene in a subset of subjects, we identified 15 rare melanoma-specific variants, which are being validated in the larger Mediterranean study and other studies from the US and Australia. We are planning a large melanoma GWAS including over 10,000 subjects in 2015

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