A new study to detect an elevated rate of mutations in a gene on the X chromosome holds promise for developing a test that could identify individuals at risk for developing cancer.
In the study, led by David J. Araten, M.D., Assistant Professor in the Department of Hematology at NYU School of Medicine, the rate of mutations in the gene, called PIG-A, was significantly higher in individuals born with defects in the cellular machinery to repair DNA compared to people without these genetic conditions.
The study is published in the September 15 issue of Cancer Research, a journal of the American Association for Cancer Research.
"The mutation rate is widely believed to be a critical factor in the development of cancer, but it has been extremely difficult to study in human cells," says Dr. Araten. "The ultimate goal of our project is to develop a test for the mutation rate. If successful, we may be able identify individuals at high risk for cancer and find ways to decrease their risk."
In the new study, supported by a grant from the Doris Duke Charitable Foundation, Dr. Araten found that the chance of a mutation in the PIG-A gene each time a cell divides ranges from about 1 in 3 million to about 1 in 300,000 in cells from individuals without a genetic predisposition to cancer.
Among some people with Fanconi anemia and ataxia telangiectasia, conditions involving defects in DNA repair, which predisposes them to cancer, the probability of mutations was close to 1 in 100,000 to 1 in 20,000 per cell division, according to the study.