Scientists identify skin cancer gene mutation

By Efrosini Costa

Scientists identify skin cancer gene mutation
Scientists say they are one step closer to understanding why some families are at a greater risk of skin cancer.

A genetic mutation, that is believed to be the cause of some melanomas, has been identified by a UK research team.

Published in the journal Nature Genetics, the team says their discovery will help to pave the way for new screening methods for skin cancers.

Family history, sun exposure and skin type have always been identified as factors contributing to a greater risk of the disease.

But researchers from the Wellcome Trust Sanger Institute found those with this particular gene mutation where at a more extreme risk of developing melanoma – a type of skin cancer.

The mutation ‘switches off’ a gene known as POT1 – which protects against damage to chromosomes in our DNA.

Dr David Adams, co-author of the study , says the discovery should give researchers and doctors the ability to ascertain who was at risk, and who should be screened for skin cancer.

“The mutations in this gene result in damage to the end of the chromosomes and chromosomal damage in general is linked to cancer formation – that’s the pathway for it,” he told reporters.

The research could be a step forward for those with a strong family history of skin cancer, with earlier detection and the development of new treatments could help to facilitate better management of the disease.


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