By Stephanie Murg, Managing Director, G2 Intelligence
Although an extensive body of research links inherited mutations in the BRCA1 and BRCA2 genes to breast and ovarian cancer, little is known about the relationship between specific mutations and cancer risk—until now. A study published in the April 7 issue of the Journal of the American Medical Association identified mutations that are associated with significantly different risks of breast and ovarian cancers.
Researchers at the Basser Center for BRCA, the Abramson Cancer Center, and the Perelman School of Medicine at the University of Pennsylvania evaluated cancer diagnoses for 19,581 carriers of BRCA1 mutations and 11,900 carriers of BRCA2 mutations and then analyzed whether the BRCA1 and BRCA2 mutation type or location was correlated to breast and/or ovarian cancer risk. The team then identified regions of both BRCA1 and BRCA2 that, when mutated, confer higher risks of ovarian cancer, and other regions that confer higher risk of breast cancer.
“With these new findings, we’ve gained knowledge of mutation-specific risks which could provide important information for risk assessment among BRCA1/2 mutation carriers,” said the study’s senior author, Katherine L. Nathanson, M.D., associate professor of medicine and director of genetics in the Basser Center for BRCA at Penn’s Abramson Cancer Center, in a statement. “Additional research is needed to determine the absolute risks associated with different mutations, and how those differences might influence decision making and standards of care, such as preventive surgery, for carriers of BRCA1 and BRCA2 mutations.”