Australian Researchers Discover Gene Variant That Increases Melanoma Risk

Scientists have discovered that a variant in the MITF gene – a gene responsible for regulating pigmentation and melanoma development – can significantly increase the risk of melanoma.

AsianScientist (Nov. 14, 2011) – Following recent genetic findings on the causes of melanoma, an international team from Australia, the U.K., and the U.S. have made another genetic discovery on the cause of this deadly disease.

Published today in the journal Nature, the study results show that a variant in the MITF gene – a gene is responsible for regulating pigmentation and melanoma development – can significantly increase the risk of melanoma.

“This study’s findings are quite alarming, as individuals possessing this genetic variant have a 250 percent increased risk of developing melanoma – which is as significant to melanoma risk as traits such as having red hair,” Dr. MacGregor of the Queensland Institute of Medical Research (QIMR) said.

“This genetic variant showed up more commonly in people that have a family history of melanoma and can be found in approximately one percent of the population,” he said.

Interestingly, the mutation was also more common in those with a higher mole count or with darker eye color, he added.

Melanoma is the most life-threatening form of skin cancer and Australia has the highest rates of melanoma in the world. In 2007, there were 10,342 new cases of melanoma in Australia, according to statistics from the Department of Health and Aging, Australian Government. Melanoma is also one of the most common cancers affecting youth in Australia.

The variant was discovered through a study examining the DNA of over 3,900 Australian and U.K. residents with melanoma and over 4,000 people without the condition.

While this finding is a step forward in determining accurate risk estimates for melanoma susceptibility, testing for genetic variants such as the MITF mutation is still several years away, he said.

Finally, Dr. MacGregor reiterated that the age-old combination of sunscreen, a hat, and a pair of sunglasses was still the most effective way to protect against melanoma.

“Our finding does not diminish the importance of protecting our skin from sun exposure by wearing sunscreen, a hat, sunglasses and a long-sleeved shirt when in the sun, even during cooler months, because the risk of melanoma is high all year round,” he said.

The article can be found at: Yokoyama S et al. (2011) A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma.


Source: Queensland Institute of Medical Research.
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