New test links BRCA2 gene mutations to breast, ovarian cancer

Volume 7, Issue 2, 2018


The findings may help patients make better decisions about results obtained from genetic testing.

Photograph of Fergus J. Couch, Ph.D.

Fergus J. Couch, Ph.D.

A new test developed by researchers at Mayo Clinic shows which mutations in the BRCA2 gene make women susceptible to developing breast cancer or ovarian cancer. The research study behind the test was published in the American Journal of Human Genetics on Jan. 17, 2018.

"Certain inherited mutations in the BRCA2 gene have been linked to breast and ovarian cancers," said Fergus J. Couch, Ph.D., a consultant in the Department of Laboratory Medicine and Pathology at Mayo Clinic in Rochester, Minnesota, and lead author of the published report. "This test offers an excellent way to predict whether individual inherited mutations cause cancer."

In the study, Dr. Couch and his co-authors describe a laboratory-based test that can establish which inherited mutations in the BRCA2 gene, called variations of uncertain significance, are involved in cancer.

"Up until now, it has only been possible to establish that 13 inherited mutations in BRCA2 are pathogenic and known to cause cancer," Dr. Couch said. "In this study, we identified 54 that increase the risk of cancer. Similarly, 21 known neutral mutations that do not increase the risk of cancer can now be expanded to 73. These findings may help patients and their health care providers make better decisions about how to deal with information obtained through genetic testing."

Going forward, this research will make it possible to evaluate the potential involvement in cancer of many more inherited mutations in the BRCA2 gene, Dr. Couch said.