"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," says David Adams. (Credit: Maja_Larsson/Flickr, font by Vernon Adams)

genes

Melanoma in families linked to mutations in one gene

The discovery that mutations in a specific gene are responsible for a hereditary form of melanoma could make it easier to detect and treat, experts say.

People with specific mutations in the POT1 gene, which protects the ends of our chromosomes from damage, are extremely likely to develop melanoma, new research shows. These mutations deactivate the POT1 gene.

“This finding significantly increases our understanding of why some families have a high incidence of melanoma,” says Tim Bishop of the School of Medicine at the University of Leeds and a senior co-author of the study published in Nature Genetics.

“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.”

“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,” adds David Adams, co-senior author from the Wellcome Trust Sanger Institute.

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Known genetic mutations account for approximately 40 percent of all occurrences of inherited forms of melanoma. The team set out to identify the hereditary mutations that account for the other 60 percent 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 that protect chromosomes from damage.

The team found that there were also cases of other cancer types in families with these hereditary mutations such as leukemia and brain tumors.

“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,” says Julia Newton Bishop, co-senior author from the University of Leeds.

“This study would not have been possible without the help and patience from the families that suffer from these devastating, inherited forms of melanoma.”

Cancer Research UK and the Wellcome Trust Sanger Institute funded the work.

Source: University of Leeds

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