What groups have a genetic predisposition to familial melanoma? Germline genetic mutations and polymorphisms can predispose to melanoma. The major high-penetrance melanoma susceptibility gene locus associated with familial melanoma is CDKN2A, which encodes p16 and p14ARF; p16 and p14ARF regulate retinoblastoma (Rb) nd p53 pathways, respectively. Germline CDKN2A mutations are observed in 25% of familial melanoma. Meyle KD, Guldberg P: Genetic risk factors for melanoma, Hum Genet 126:499–510, 2009. |
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