Genetic mutations involved in melanoma: a summary of our current understanding

The biomolecular understanding of melanoma is in flux. The importance of high-penetrance genes involved in familial melanoma includes a significant number of mutations that directly lead to impairment of the checkpoints of the normal cell cycle. Furthermore, a greater understanding of the interaction between genetic factors and environmental factors, such as MC1R, CDKN2A, BRAF, and ultraviolet light, is emerging from landmark research. Although currently and with rare exception most clinicians still confine genetic testing to the realm of research, even in familial melanoma, continued and major advances in this arena may lead to development of new and revolutionary means of diagnosis and treatment, patterned on improved understanding of melanoma-related genetic mutations and resultant aberrations in cellular pathways.