Genetic mutations can warn of skin cancer risk
31st March 2014 – A team of researchers have found that mutations in a specific gene are responsible for a hereditary form of melanoma, a type of skin cancer. It raises the hope that some of those at risk of skin cancer could be identified and monitored.
Melanoma is a serious, life-threatening form of skin cancer responsible for more than 2,000 deaths a year in the UK. It is becoming more common in this country: there are now four times as many cases of melanoma as there were 30 years ago, with about 13,000 new cases being diagnosed each year.
In the 15–34 year-old age group, melanoma is one of the most common types of cancer.
Increased sun exposure and the use of sunbeds are some of the factors that have increased the risk of melanoma.
Finding the gene mutation
Experts wanted to identify hereditary mutations that may be responsible for up to 60% of melanoma cases. Experts have already identified genetic mutations in about 40% of inherited forms of melanoma.
A team of researchers from centres based in several countries – led by the Wellcome Trust Sanger Institute in the UK (one of the world's leading genome centres) – looked at 184 melanoma cases from the UK, the Netherlands and Australia who had hereditary melanoma caused by unknown mutations.
The experts identified mutations in a gene called the protection of telomeres 1 ( POT1) gene as being the link in these people that has made them more likely to develop melanoma. The mutations deactivated the POT1 gene, which protect telomeres located at the ends of our chromosomes.
The team also found that the hereditary mutations in the POT1 gene might be linked to other types of cancer, including leukaemias and brain tumours.
Early detection in the future
The study raises the prospect that doctors will be able to identify people at risk of developing melanoma and monitor them. The study may also help researchers in finding new developments to prevent and treat melanoma.
"This finding significantly increases our understanding of why some families have a high incidence of melanoma," says Professor Tim Bishop, who is director of the Leeds Institute of Cancer and Pathology.
"Our research is making a real difference to understanding what causes melanoma and ultimately therefore how to prevent and treat melanoma," says Professor Julia Newton Bishop, who is co-senior author from the University of Leeds.
Dr David Adams, co-senior author from the Wellcome Trust Sanger Institute says, "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."