The hereditary forms of a potentially-deadly skin cancer- Melanoma are caused by mutation in a specific gene of the affected person. This identification of the responsible gene mutation will allow dermatologists to key out people who should be part of melanoma surveillance program.
About 1 in 20 people with melanoma have a family history of the deadly cancer. In UK alone, almost 12,000 people are diagnosed with melanoma every year.
Researchers pin pointed that people with modifications in the gene POT1 are extremely likely to develop the skin cancer. The gene POT1 protects the ends of our chromosomes from damage and certain modifications deactivate this gene.
"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" he added.
40 percent of all gene mutations responsible for occurrences of inherited forms of melanoma are known. The authors had set out to discover the other 60 percent by sequencing part of the genome of 184 patients with hereditary melanoma caused by unknown mutations.
The study found that as the gene POT1 gets inactive, it leads to longer and potentially unprotected telomeres- regions at the end of our chromosomes that protect them 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, in the future, it may be possible that early detection will facilitate better management of this disease."
Article Source: News Medical
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