In a large study conducted at the University of Pennsylvania in more than 31,000 women, scientists 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.
In a study involving more than 31,000 women with cancer-causing mutations in the BRCA1 or BRCA2 genes, researchers at The Basser Center for BRCA, the Abramson Cancer Center, and the Perelman School of Medicine at the University of Pennsylvania identified mutations that are associated with significantly different risks of breast and ovarian cancers. Authors say the results - which show that some mutations confer higher risks of breast cancer, while other mutations show higher risks of ovarian cancer - may lead to more effective cancer risk assessment, care and prevention strategies for health care providers and carriers. The results are published in the April 7 issue of JAMA.
"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," said Timothy R. Rebbeck, PhD, professor of Epidemiology, and associate director for Population Science at Penn Medicine's Abramson Cancer Center. "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."
Link to the news release by Penn Medicine: