New Gene Variant Seems to Double Risk of Familial Melanoma

Researchers have identified a new gene variant that seems to double the background risk of familial melanoma. This mutation results in a change in the amino acid sequence of microphthalmia-associate transcription factor, or MITF for short. This same protein has already been known to be over-expressed or otherwise mutated in melanoma tumors. This change in the amino acid sequence gives rise to the increase transcription of certain genes. Wide genomic studies of melanoma have resulted in the discovery of two genes linked to familial melanoma, CDKN2A and CDK4. However, additional studies have led researchers to identify another gene related to melanoma and other skin related diseases: MITF E318K. This gene has been shown to be linked with the increased expression of pigmentation genes, but it is not completely clear yet whether or not this increased pigmentation is a result of the MITF E318K or simply of the increased MITF activity itself. The increased risk of melanoma in regards to the MITF variant has been compared to that of a severe sunburn.

http://www.genengnews.com/gen-news-highlights/scientists-identify-gene-variant-that-doubles-background-risk-of-melanoma/81245947/ (Article Link)