A new multi-institute study led by Mayo Counsiologist Fergus Couch, Ph.D., provides more accurate estimates of breast cancer risk for U.S. women who harbor inherited mutations in genes breast cancer predisposition. The results of the CARRIERS Consortium study, published Wednesday, January 20 in the New England Journal of Medicine, could allow health care providers to better assess breast cancer risk in women – many of whom do not have a family history of breast cancer – and provide more appropriate risk management strategies.
Traditionally, genetic testing for breast cancer genes has focused on high – risk women with a strong family history of breast cancer or those diagnosed at a young age, such as under 45 years of age. “
Professor Fergus Couch, Ph.D., Mayo Clinic Pathologist
It states that conventional estimates of breast cancer risk given to women when breast cancer mutation are found to be particularly appropriate for those at high risk and not for women from the general population.
In the CARRIERS Consortium study, researchers performed a hereditary cancer genetic test on 12 breast cancer genes based in 32,247 women with breast cancer and 32,544 women of the same age without breast cancer from several large U.S. population-based studies. By analyzing women from these population-based studies, researchers were able to better understand the prevalence of mutations among the different breast cancer genes and to more accurately estimate her ‘risk of developing breast cancer for women in the general population with mutations in these genes.
“The risk of developing breast cancer is generally lower for women without a family history of the disease,” says Dr Couch. “When we looked at all women, we found that 30% of breast cancer mutations occurred in non-high-risk women.” Dr Couch says that, prior to this study, these women were unable to get accurate estimates of their breast cancer risk. He also noted that these findings were similar to white, black and Hispanic women.
Dr. Couch expects breast cancer clinics to use the new risk estimates to provide more accurate risk assessments for women who do not have a family history of breast cancer.