Melanoma Genetics: From Susceptibility to Progression

摘要: Melanoma genetics has been for a long time great challenge to cancer biologists, in part due complete lack of single candidate gene melanoma development. Differ‐ ent from breast and colorectal cancers, where BRCA-1/2 APC/mismatch repair genes, respectively, characterize familial clusters susceptibility (reaching penetrance rates as high 90% some cases), melanomas, the mutation rate most com‐ monly altered genes associated with disease progression do not exceed 60% cases clusters. Among “classical genes” are those coded at CDKN2A locus (coding p14 p16, both related cell cycle arrest), BRAF (specially V600E mutation), downstream transducer RAS signaling pathway criti‐ cal cellular response growth signals, mutations NRAS, somewhat relat‐ ed initiation melanoma.