Experts in region uncover gene behind deadly inherited cancer

Every year in the UK nearly 12,000 people are diagnosed with melanoma. About one in 20 have a strong family history of the skin cancer, but pinpointing the mutations driving disease allows specialists to identify those who should be closely monitored.

A team from Leeds University, working with colleagues in Cambridge, found people with specific mutations in the POT1 gene, that protects the ends of chromosomes from damage, were extremely likely to develop melanoma. These mutations deactivate the POT1 gene.

Senior co-author Prof Tim Bishop, of the School of Medicine at Leeds University, said: “This finding significantly increases our understanding of why some families have a high incidence of melanoma. 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.”

David Adams, of the Wellcome Trust Sanger Institute, Cambridge, added: “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.”

The team also found cases of other cancers in families with hereditary mutations such as leukaemias and brain tumours, raising the possibility they could underlie other cancers.

Co-author Prof Julia Newton Bishop, from Leeds, said: “Our research is making a real difference to understanding what causes melanoma and ultimately therefore how to prevent and treat melanoma and is a prime example of how genomics can transform public health.”