BRCA Mutations Mapped

In a large study, researchers find evidence to suggest that the type and location of a woman’s BRCA1/2 mutations may affect her cancer risk.

Apr 8, 2015
Tracy Vence

BRCA1WIKIMEDIA, EMWA woman’s risk of breast and ovarian cancers vary according to the type and location of her BRCA1/2 mutations, the University of Pennsylvania’s Timothy Rebbeck and his colleagues reported in JAMA today (April 7). Scanning the genomes of 19,581 carriers of BRCA1 mutations and 11,900 carriers of BRCA2 mutations from around the world, Rebbeck’s team uncovered so-called breast cancer cluster regions and an ovarian cancer cluster region, in which mutations were correlated with cancer risk. The study also found evidence to suggest that mutation type was linked to a carrier’s cancer risk.

“We’ve made a lot of progress toward understanding how to reduce the cancer risks associated with inherited mutations in BRCA1 or BRCA2 mutations, but until now, little has been known about how cancer risks differ by the specific mutation a woman has inherited,” Rebbeck said in a statement. “The results of this study are a first step in understanding how to personalize risk assessment around a woman’s specific mutation, which can help guide carriers and providers in the cancer prevention decision making process.”

One goal is to apply these results to further refine a BRCA1/2 mutation carrier’s risk of developing breast or ovarian cancer, Rebbeck told Science News. “This is part of the precision- and personalized-medicine approach,” he said.