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Genetic Variation May Help Identify Young Women at Risk for Melanoma

Posted: March 26, 2009

The discovery of a genetic variation in young female melanoma patients could lead to better testing and screening for the diseaser earlier in life.

A genetic variation that's associated with a nearly fourfold increased risk of melanoma in women under the age of 50 has been identified by researchers at the New York University School of Medicine. Identification of this variation in a gene called MDM2 could lead to a screening test to identify women at high risk for the deadly skin cancer.

If confirmed in further studies, the increased risk caused by the MDM2 variation "is higher than a lot of the other clinical factors that we know, such as blistering sunburns, freckling and family history," study author Dr. David Polsky, an associate professor of dermatology and director of the Pigmented Lesion Section of the dermatology department at NYU School of Medicine, said in a university news release.

"Potentially, we have a genetic test that might identify premenopausal women who are at higher risk for melanoma. And if that's not the case, then we might want to have increased surveillance of those patients including more frequent visits to the doctor, more rigorous teaching of skin self-examination, and other preventive steps," he said.

In their study of 227 melanoma patients, Polsky and colleagues found that more than 40% of female patients younger than 50 had the MDM2 genetic variation, compared with about 16% of female patients older than 50. The difference in frequency of the genetic variation corresponded to a 3.89-fold increased risk of melanoma among women younger than 50, the researchers said.