Researchers have discovered that mutations in a specific gene are responsible for a hereditary form of melanoma.
Every year in the UK, almost 12,000 people are diagnosed with melanoma, a form of skin cancer. About 1 in 20 people with melanoma have a strong family history of the disease. In these patients, pinpointing the genetic mutations that drive disease development allows dermatologists to identify people who should be part of melanoma surveillance programmes.
The team found that people with specific mutations in the POT1 gene were extremely likely to develop melanoma. These mutations deactivate the POT1 gene that protects the ends of our chromosomes from damage.
"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," says Dr David Adams, co-senior author from the Wellcome Trust Sanger Institute. "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."
Known genetic mutations account for approximately 40 per cent of all occurrences of inherited forms of melanoma. The team set out to identify the hereditary mutations that account for the other ~60 per cent by sequencing part of the genome of 184 patients with hereditary melanoma caused by unknown mutations.
They found 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.
"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,
|Contact: Aileen Sheehy|
Wellcome Trust Sanger Institute