Skin cancer causing gene mutation identified

A gene mutation that could increase the likelihood of skin cancer has been discovered. Researchers, led by the Wellcome Trust Sanger Institute, have identified mutations within a specific gene that led to the hereditary form of the disease.

Around 12,000 people throughout the UK are diagnosed with melanoma each year, but around one-in-20 have a strong family history of skin cancer. Patients that have a hereditary link to the disease are identified by pinpointing mutations within genes that could lead to the development of melanoma, allowing for the identification of individuals that should be regularly checked.

Researchers found those that have certain mutations within the POT1 gene had a higher chance of developing skin cancer. The mutations cause the POT1 gene to deactivate, which means it stops protecting the ends of chromosomes from damage. 

Dr David Adams, co-senior author from the Wellcome Trust Sanger Institute, said: "Genomics is on the verge of transforming the healthcare system - this study highlights the potential clinical benefits that can be gained through genomic studies and offers potential strategies to improve patient care and disease management. 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."

Around 40 per cent of all cases of inherited melanoma are caused by known genetic mutations; the researchers aimed to find the mutations that account for the 60 per cent of cases. They sequenced part of the genome of a total of 184 patients, all of whom had hereditary melanoma that was caused by an unknown mutation.

It was discovered that the inactive POT1 gene meant that telomeres - areas at the end of chromosomes that stop the chromosomes themselves from becoming damaged - were left unprotected. According to the researchers, this discovery dramatically increases the level of understanding surrounding the high incidence of skin cancer within some families.

"This finding significantly increases our understanding of why some families have a high incidence of melanoma," says 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."