Genetic mutations that up skin cancer risk identified

Researchers have discovered that mutations in a specific gene are responsible for a hereditary form of melanoma, a type of skin cancer.
UK researchers found that people with specific mutations in the POT1 gene were extremely likely to develop melanoma.
"With this discovery we should be able to determine who in a family is at risk, and in turn, who should be regularly screened for early detection," said Dr David Adams, co-senior author of the study from the Wellcome Trust Sanger Institute.
Known genetic mutations account for approximately 40 per cent of all occurrences of inherited forms of melanoma.
Researchers set out to identify the hereditary mutations that account for the other 60 per cent 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.

"This finding significantly increases our understanding of why some families have a high incidence of melanoma," said Professor Tim Bishop, Director of the Leeds Institute of Cancer and Pathology.
"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," he said.
The team found that there were also cases of other cancer types in families with these hereditary mutations such as leukaemias and brain tumours.

It appears that mutations that deactivate the POT1 gene may underlie other cancers, not just melanoma.
The team is currently working on developing cells and mice with an inactive POT1 gene. These will be used to test potential drug therapies that alter telomere metabolism.