Scientists discover human genome regions that influence risk of developing melanoma – Times of India

WASHINGTON: In a breakthrough study, a global collaboration of scientists have discovered more than double human genome regions that influence the risk of developing melanoma.

Joint study leader and QIMR Berghofer statistical geneticist Associate Professor Matthew Law said the researchers identified 33 new regions of the genome and confirmed another 21 previously reported regions that are linked to a person's risk of developing melanoma of the skin.

The research, co-led by QIMR Berghofer, the University of Leeds in the UK, and the National Cancer Institute in the US, has been published today in the prestigious journal of Nature Genetics.

"We also found an association between melanoma and common genetic variants in the gene TP53, which is a gene critical in controlling DNA repair when cells divide, and in suppressing cancer," added Prof Law.

The UK based co-lead author, Dr Mark Iles from the University of Leeds' Institute for Data Analytics, said the researchers examined DNA from 37,000 people who had been diagnosed with melanoma and compared their genetic information to that of nearly 400,000 people with no history of the disease.

"The large population sample made it possible to recognise which regions of the genome were active in people with melanoma," said Dr Iles.

Dr Iles also said: "The population sample we used is three times larger than any previous genetic study on melanoma risk and gives us strong confidence that the new regions we've discovered all play a role in the disease."

"It's a product of power in numbers. The only way to discover these things is by having such a large study population that spans across the globe, and we'd urge more people to sign up for these large melanoma research projects," said Dr Iles.

Melanoma begins in melanocytes, cells in the skin responsible for making the pigment melanin that gives colour to the skin.

Melanin can block some of the harmful effects of UV radiation, which is why people with pale skin are at a higher risk of skin cancer, but the protection is not complete.

Moles also develop from melanocytes and having a high number of moles is a risk factor for melanoma.

Dr Maria Teresa Landi, the co-lead author on the study and senior investigator at the US National Cancer Institute, part of the National Institutes of Health, said the research also uncovered other important clues to the genetic causes of melanoma.

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Scientists discover human genome regions that influence risk of developing melanoma - Times of India