Genetic mutations linked to melanoma
9 Apr 2014 by Evoluted New Media
A mutation in the gene responsible for protecting the ends of chromosomes is responsible for a hereditary form of melanoma say researchers from the University of Leeds.
People with a specific mutation in the POT1 (protection of telomeres 1) gene were extremely likely to develop melanoma, a form of skin cancer affecting almost 12,000 people a year in the UK.
POT1 is responsible for protecting the regions at the end of chromosomes – the telomeres – from damage, but is deactivated by mutations within the gene. This inactivation leads to disrupted protein-telomere binding and an increase in telomere length.
“This finding significantly increases our understanding of why some families have a high incidence of melanoma,” said Professor Tim Bishop from the School of Medicine.
“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.”
Known genetic mutations account for approximately 40% of inherited forms of melanoma, this research aimed to identify hereditary mutations that account for the other 60%.
The work – carried out with researchers from the Wellcome Trust Sanger Institute in Cambridge – involved sequencing part of the genome of 184 patients with hereditary melanoma caused by unknown mutations.
The researchers believe the mutations that deactivate the POT1 gene may also underlie other cancers as they found cases of other cancer types in families with these hereditary mutations, such as leukaemias and brain tumours.
“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,” said Professor Julia Newton-Bishop, senior co-author of the paper published in Nature.
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.”
POT1 loss-of-function variants predispose to familial melanoma
