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A Genetic Variation That Could Protect Skin From Sun Damage Fuels Testicular Cancer

Update Date: Oct 11, 2013 10:26 AM EDT

A common mutation has been identified that dramatically increases the risk for testicular cancer by Ludwig Cancer Research. It also explains a likely molecular mechanism by which it exerts that effect.

Researchers also suggest why in-spite of its potential lethality, the genetic variation has been favored by natural selection to become common in light-skinned people.

“Knowing the inherited genetics of cancer has great potential in medicine,” said co-author Gareth Bond who is a Ludwig researcher at Oxford University in a press relase. “It can aid the development of tests to predict the risk of developing particular malignancies. It can also tell physicians about the likely prognosis of cancers, and inform therapeutic choices, improving management of the disease.”

The DNA sequence of a human genome is peppered with little variations that is responsible for many of the differences among people. The variations ranges from curliness of their hair to the color of their eyes to the risk of obesity.

These mutations are also known as single nucleotide polymorphisms (SNPs). The reason for this name is obvious as they change only one base or “letter” in the sequence. However it is unclear how any specific SNP relates to the risk for developing its associated illness.

“Over the course of evolution, as humans migrated out of Africa into the dimly lit terrain of the north, they developed lighter skin, most likely to adapt to the lower levels of sunlight,”Bond added. “Unfortunately, that adaptation also left their skin susceptible to UV damage. It is intriguing to speculate that the better version of the KITLG p53 response element is evolution’s compensation for that vulnerability. But it appears to come at a cost—which is a greater risk for testicular cancer.”

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