Gene mutation raises risk of melanoma
Risk of melanoma—the most dangerous form of skin cancer—may be higher in individuals with a specific gene mutation, according to new research.
Scientists from the Wellcome Trust Sanger Institute in Hinxton, U.K. conducted an international study involving 184 cases of melanoma from 105 families living in the U.K., Australia and The Netherlands. Previous evidence has allowed researchers to identify genetic mutations that account for approximately 40 percent of inherited incidences of melanoma. In the new study, the research team used DNA sequencing with the goal of identifying hereditary mutations that may cause the other 60 percent of inherited melanoma.
Following analysis of DNA sequencing, the researchers found that people with mutations of a gene known as POT1 had an increased risk of melanoma. The gene POT1 plays an important role in protecting against damage to chromosomes. The mutation identified in the new study essentially deactivates the POT1 gene, which can lead to DNA damage.
Researchers also found that among families with POT1 mutations, other cancer types such as leukemia and brain tumors were more prevalent. The findings, published in the journal Nature Genetics, suggest that the mutations that deactivate the POT1 gene may be responsible for multiple types of cancer, in addition to melanoma. The discovery, the scientists said, could help lead to the development of new screening and treatment methods.