Researchers have discovered that mutations in a specific gene are responsible for a hereditary form of melanoma. In a study recently published online in Nature Genetics, 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 chromosomes from damage.
“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 David Adams, PhD, 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% of all occurrences of inherited forms of melanoma. The team set out to identify the hereditary mutations that account for the other 60% 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 chromosomes that protect chromosomes from damage.
“This finding significantly increases our understanding of why some families have a high incidence of melanoma,” says Tim Bishop, PhD, 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.”
The team is currently working on developing cells and mice with an inactive POT1 gene. These will be used to test potential drug therapies that alter telomere metabolism. Read the study abstract.Read more