New gene mutation in melanoma skin cancer identified

Detecting signs of melanoma, considered as the most dangerous form of skin cancer, may become easier as scientists have discovered that mutation of a specific gene is responsible for the disease.

People with specific mutations in the POT1 gene were extremely likely to develop melanoma, the study found.

POT1 gene protects the ends of our chromosomes from damage.

"This finding significantly increases our understanding of why some families have a high incidence of melanoma," said Tim Bishop, director of the Leeds Institute of Cancer and Pathology.

Known genetic mutations account for approximately 40 percent of all occurrences of inherited forms of melanoma.

The team set out to identify the hereditary mutations that account for the other 60 percent by sequencing part of the genome of 184 patients with hereditary melanoma caused by unknown mutations.

They found that the inactivation of POT1 caused by these mutations leads to longer and potentially unprotected telomeres, regions at the end of our chromosomes that protect chromosomes from damage.

"Since this gene has previously been identified as a target for the development of new drugs, in the future, it may be possible that early detection will facilitate better management of this disease," Bishop said.

Mutations that deactivate the POT1 gene may underlie other cancers, not just melanoma, the study found.