Scientists have finally made a breakthrough in understanding the hereditary mechanisms behind skin cancer.
Every year, there are over 3.5 million reported cases of skin cancer in the U.S. There are already a number of known factors that can influence the development of skin cancer. These factors include skin type, prolonged exposure to sunlight and genetics.
Scientists have been studying the reason why some people have a greater risk of developing skin cancer due to a history of the disease in their families. Researchers have finally identified a new type of gene mutation that can cause certain types of melanoma. The study was led by researchers from the Wellcome Trust Sanger Institute in the UK.
"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," said Wellcome Trust Sanger scientist David Adams. "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." Adams is also the co-senior author of the study published in the online journal Nature Genetics.
Their findings indicate that a mutation in a specific gene found in certain family lines could cause a sharp increase in the risks of developing melanoma. The researcher has found that these mutations affect a gene referred to as POT1. Once the gene is deactivated, the body loses the ability to protect its chromosomes from damage due to sunlight.
"This finding significantly increases our understanding of why some families have a high incidence of melanoma," said Leeds Institute of Cancer and Pathology Professor Tim Bishop. "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."
Scientists now know of several gene mutations that can increase the risks of developing melanoma. However, researchers are certain that there are still unknown gene mutations that can also cause a predisposition to melanoma.
"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 University of Leeds professor Julia Newton Bishop. "This study would not have been possible without the help and patience from the families that suffer from these devastating, inherited forms of melanoma."