Rare mutations in a gene called XRCC2 cause increased breast cancer risk, according to a study published online on March 29, 2012 in the American Journal of Human Genetics. The study looked at families that have a history of the disease, but do not have mutations in the currently known breast cancer susceptibility genes. Sean Tavtigian, Ph.D., a Huntsman Cancer Institute (HCI) investigator and associate professor in the Department of Oncological Sciences at the University of Utah (U of U) is one of three co-principal investigators on the study, along with David Goldgar, Ph.D., professor in the Department of Dermatology at the U of U and an HCI investigator, and Melissa Southey, Ph.D., professor in the Department of Pathology at the University of Melbourne, Australia. "We have added to the list of genes that harbor mutations causing breast cancer," said Dr. Tavtigian. "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." XRCC2 may also provide a new target for chemotherapy. "A type of drug called a PARP inhibitor appears to kill tumor cells that have gene mutations in a particular DNA repair pathway. XRCC2 is in this pathway, as are BRCA1 and BRCA2. It's reasonably likely that a breast cancer patient who has a mutation in XRCC2 will respond well to treatment with PARP inhibitors," said Dr. Tavtigian. According to Dr. Tavtigian, many breast cancer cases appear in families with a weak history of the disease.
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