05:45am Thursday 27 February 2020

Tiny gene. Big melanoma risk.

QIMR researchers, as part of an international study have found a variant in the MITF gene which can significantly increase the risk of melanoma.

QIMR researcher, Dr Stuart MacGregor said the MITF gene is responsible for regulating pigmentation and melanoma development, but this small mutation can have a large impact on melanoma risk.
“This study’s findings are quite alarming, as individuals possessing this genetic variant have a 250% increased risk of developing melanoma – which is as significant to melanoma risk as traits such as having red hair,” Dr MacGregor said.

“This genetic variant showed up more commonly in people that have a family history of melanoma and can be found in approximately 1% of the population.

“Interestingly, it is more common in those with a higher mole count or with darker eye colour.”
The variant was discovered through a study examining the DNA of over 3,900 Australian and UK residents with melanoma and over 4,000 people without the condition.

Dr MacGregor said that QIMR is committed to better understanding the genetics of melanoma risk and melanoma development, with a view to improving prevention and treatment of this potentially fatal disease.

“Each finding is a step forward in determining accurate risk estimates for melanoma susceptibility and improving the ability to predict those individuals most likely to develop the potentially deadly disease,” Dr MacGregor said.
“It can also help inform people and let them take the necessary precautions to avoid developing melanoma.

“Testing for genetic variants such as this is still several years away.
“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.”

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 (Department of Health and Ageing, Australian Government).
To carry out this study, QIMR collaborated with the Harvard Medical School; the Westmead Millennium Institute for Medical Research; the University of Sydney; the University of Melbourne; the Melanoma Institute Australia; Leeds University and the Translational Genomics Institute, Phoenix.

The results of this study will be published in Nature on 14 November 4am AEST – Queensland and can be downloaded at www.nature.com.


About melanoma

·         Melanoma rates have increased in both Australian men and women since 1982.

·         The medical cost of treating melanoma during the 2001 financial year is estimated at 30 million dollars.

    Total deaths from melanoma in 2007 were 1,279.
    Melanoma is also one of the most common cancers affecting youth in Australia.

(AIHW, 2010)

The Queensland Institute of Medical Research (QIMR) is a world leading translational research institute. Our research focuses on cancer, infectious diseases, mental health and a range of complex diseases. Working in close collaboration with clinicians and other research institutes, our aim is to improve health by developing new diagnostics, better treatments and prevention strategies.

For more information about QIMR, visit www.qimr.edu.au

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