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

At present gene testing is done only if an individual has a strong family history of that cancer type, for example the BRCA tests for breast and ovarian cancer.

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


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