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New breast cancer gene discovery can help women know their risk

Kathleen Blanchard's picture
A rare gene is discovered that raises breast cancer risk.

Women now have new way to find out if they’re at risk for breast cancer, thanks to researchers who have discovered a new susceptibility gene. According to the new findings, there is a gene called a XRCC2 that increases breast cancer risk. The finding could help patients with the disease live longer and help women catch breast cancer early.

The study published in the American Journal of Human Genetics, looked at family history of breast cancer among relatives that don’t have known gene mutations that lead to the disease such as BRCA1 and BRCA2.

Study investigator Sean Tavtigian, Ph.D., a Huntsman Cancer Institute (HCI) and associate professor in the Department of Oncological Sciences at the University of Utah explains understanding the gene as a risk for breast cancer provides a tool for chemotherapy.

The gene mutation is in the same pathway as are BRCA1 and BRCA2, meaning a drug known as a PARP inhibitor could be used to treat women with breast cancer caused by the XXRCC2 variation.

Gene discovery could add years to patients’ lives

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"This knowledge will improve breast cancer diagnostics and add years to patients' lives. More important, relatives who have not been affected by the disease but carry the mutations will benefit even more. They can find out they are at risk before they have cancer and take action to reduce their risk or catch the cancer early”, Tavtigian said in a press release.

His team is continuing research to find out just how many cases of breast cancer are caused by the new gene discovery and how high the risk is. “So far most of the clinical diagnostic effort has been directed toward the very strong family history set of breast cancer cases and their close relatives," he said. "Our research looks at a population with a weaker family history, and as it turns out, a very rare gene mutation."

The new gene discovery advances understanding of breast cancer. Women can find out if they’re at risk so they can be screened, diagnosed and treated early, before the disease progresses. The finding also provides information about treatment options that could help patients live longer.

American Journal of Human Genetics.
"Rare Mutations in XRCC2 Increase the Risk of Breast Cancer"
D.J. Park, et al.
March 29, 2012

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