Genetic risk factors for melanoma View Full Text


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Article Info

DATE

2009-07-08

AUTHORS

Kathrine Damm Meyle, Per Guldberg

ABSTRACT

The genetic basis of melanoma is complex and has both inherited and acquired components. Different genomic approaches have been used to identify a number of inherited risk factors, which can be stratified by penetrance and prevalence. Rare high-penetrance factors are expressed in familial clustering of melanoma and include mutations in CDKN2A (encoding p16INK4a and p14ARF) and CDK4. These genes are involved in cell-cycle arrest and melanocyte senescence and are nearly invariably targeted by somatic mutations during melanoma progression. Low-penetrance factors are common in the general population and include single-nucleotide polymorphisms in or near MC1R, ASIP, TYR and TYRP1. These genes are major determinants of hair and skin pigmentation, but their role in melanoma development remains unclear. This review describes the efforts that have led to the current understanding of melanoma susceptibility as the result of complex gene–gene and gene–environment interactions. Despite the significant advances, the majority of familial cases remain unaccounted for. More... »

PAGES

499-510

References to SciGraph publications

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  • 2008-05-18. Two newly identified genetic determinants of pigmentation in Europeans in NATURE GENETICS
  • 2008-05-18. ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma in NATURE GENETICS
  • 2007-02-21. Melanocyte biology and skin pigmentation in NATURE
  • 2003-05-19. Human melanocyte senescence and melanoma susceptibility genes in ONCOGENE
  • 2004-11. The RAF proteins take centre stage in NATURE REVIEWS MOLECULAR CELL BIOLOGY
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  • 1994-09. Germline p16 mutations in familial melanoma in NATURE GENETICS
  • 2008-12-10. Frequent somatic mutations of GNAQ in uveal melanoma and blue nevi in NATURE
  • 2002-11-25. High frequency of BRAF mutations in nevi in NATURE GENETICS
  • 1994-09. Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus in NATURE GENETICS
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    http://scigraph.springernature.com/pub.10.1007/s00439-009-0715-9

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    http://dx.doi.org/10.1007/s00439-009-0715-9

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1000561556

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/19585149


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