Gene mutation behind deadly skin cancer identified

Researchers have identified gene mutation that is responsible for a hereditary form of skin cancer melanoma.

The study has found that people with specific mutations in the POT1 gene were extremely likely to develop melanoma and these mutations deactivate the gene that protects the ends of our chromosomes from damage.

Researchers revealed 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.

Dr David Adams, co-senior author from the Wellcome Trust Sanger Institute, said that with this discovery, they should be able to determine who in a family is at risk, and in turn, who should be regularly screened for early detection.

According to the research team, there were also cases of other cancer types in families with these hereditary mutations such as leukaemias and brain tumours and the mutations that deactivate the POT1 gene may underlie other cancers, not just melanoma.

The scientists are currently working on developing cells and mice with an inactive POT1 gene, which will be used to test potential drug therapies that alter telomere metabolism. 

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