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Three genetic variants linked to melanoma susceptibility discovered

Discussion in 'Oncology' started by Egyptian Doctor, Oct 19, 2011.

  1. Egyptian Doctor

    Egyptian Doctor Moderator Verified Doctor

    Mar 21, 2011
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    Researchers have discovered three new genetic variants associated with risk for melanoma in the genes ATM, MX2, and adjacent to the gene CASP8.

    "We know that overexposure to ultraviolet increases the risk of developing melanoma - but this evidence shows that there are new additional genetic faults which can push up the risk further," said study author Tim Bishop from the University of Leeds in the UK.

    "It is fascinating to discover these new melanoma risk factors - and we expect that the results of similar studies underway will reveal even more," he added.

    As reported in the journal Nature Genetics, the researchers carried out a genome-wide association study to search for melanoma-associated variants in 2981 people with melanoma and 1982 controls with European ancestry. An additional 6426 French or British controls were also included.

    The participants were all genotyped for 317,000 or 610,000 single nucleotide polymorphisms (SNPs).

    The scan identified seven new loci of interest in addition to previously identified melanoma-susceptibility associated regions. SNPs located at three of these loci were highly significantly (P<10[SUP]-3[/SUP]) associated with melanoma, namely, rs1801516 in the ATM gene, rs45430 in the MX2 gene, and rs13016963 adjacent to the CASP8 gene.

    The CASP8 gene encodes a protease involved in cell proliferation and apoptotic cell death and the ATM gene a protein that repairs double-stranded DNA breaks. The function of MX2 is uncertain, but likely to be involved in similar cellular processes.

    Each copy of the minor allele of rs13016963 carried increased the risk for melanoma by 26%, whereas carriage of the minor allele of rs1801516 or rs45430 reduced the risk for melanoma by 12% and 10%, respectively.

    The team notes that another locus near the gene CCND1 showed "suggestive, but inconclusive," evidence of an association with melanoma, and say that further evidence is needed for this to be confirmed.

    They explain that their results add to previous findings bringing the total number of melanoma-associated loci up to 11 in total. Five of these loci are thought to influence melanoma risk through the pigmentation phenotype and at least three through the nevus phenotype "reflecting the major phenotype-associated risk factors for melanoma," write Bishop and colleagues.

    "The best way to reduce the risk of skin cancer, is to protect yourself from strong sun by covering up with clothing, spending some time in the shade, and applying at least sun-protection factor 15 (SPF 15) sunscreen with four or more stars generously and regularly," said Lesley Walker, Cancer Research UK's director of cancer information.

    "These intriguing results provide deeper understanding of the causes of melanoma and provide a potential new approach to identify people most at risk of developing melanoma and other cancers."

    Source : MedWire News - Most Popular Stories - Three genetic variants linked to melanoma susceptibility discovered

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