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Researchers have identifiedgene mutation that is responsible for a hereditary form of skin cancermelanoma. The study has found that people with specific mutations in the POT1 gene were extremely likely to develop melanoma and these mutations deactivate the gene that protects the ends of our chromosomes from damage.
Researchers revealed that the inactivation of POT1 caused by these mutations leads to longer and potentially unprotected telomeres, regions at the end of our chromosomes that protect chromosomes from damage. Dr David Adams, co-senior author from the Wellcome Trust Sanger Institute, said that with this discovery, they should be able to determine who in a family is at risk, and in turn, who should be regularly screened for early detection. (Read: Who cares about skin cancer? We're more worried about wrinkles!)
According to the research team, there were also cases of other cancer types in families with these hereditary mutations such as leukaemias and brain tumours and the mutations that deactivate the POT1 gene may underlie other cancers, not just melanoma. The scientists are currently working on developing cells and mice with an inactive POT1 gene, which will be used to test potential drug therapies that alter telomere metabolism. (Read: Revealed why people's skin turned darker!)
What is skin cancer?
Skin cancer originates in the tissues of the skin. There are several types of skin cancer depending on the type of skin cell they arise from. They are broadly divided into two main types non-melanoma and melanoma. Basal cell carcinoma and squamous cell carcinoma are the most common types of non-melanoma skin cancer. Basal cell carcinoma forms in the lowest layer of the epidermis of skin whereas squamous cell carcinoma forms in squamous cells at the surface of the skin. Melanoma originates in skin pigment producing cells called melanocytes.
The main cause of skin cancer is exposure to the ultraviolet radiation from sun. Moles are the most dangerous precipitate factor. Irregular diet, smoking, chronic infection and inflammation, arsenic exposure, etc. can also contribute as risk factors. Inks used in tattoos, especially blue ink, may contain toxic elements like cobalt and aluminium which increase the risk of skin cancer. Indoor tanning beds can significantly increases chances of skin cancer. (Read: 10 facts about skin cancer you probably didn't know about)
With inputs from ANI
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