In the USA, approximately 25% of women with a breast cancer diagnosis are younger than 50 years, and almost 10% of these women will have a BRCA mutation. Moreover, of these women, as many as 80% will not have the usual features associated with BRCA mutation carriers, such as significant personal family history of breast and/or ovarian cancer or Ashkenazi Jewish ancestry. Therefore, many young women with breast cancer would not have undergone BRCA mutation testing.

...this criterion should be adopted into current guidelines for BRCA mutation testing

The current ASCO, US Preventive Services Task Force, American College of Obstetrics and Gynecology, and the National Comprehensive Cancer Network guidelines do not recommend BRCA testing for women under 50 years with breast cancer unless there is a family history of breast or ovarian cancer, or they are of Ashkenazi Jewish heritage. Many women younger than 50 who are identified as BRCA mutation carriers would be offered prophylactic mastectomy and bilateral salpingo-oophorectomy to reduce their cancer risk.

In a study led by Janice Kwon, a cost-effectiveness analysis was developed with the best available data to estimate the costs and health benefits of BRCA testing. The researchers used a Markov Monte Carlo simulation to test various criteria for BRCA testing. In particular, life expectancy, quality-adjusted life expectancy and cost-effectiveness ratio were analyzed. Although BRCA mutation testing in all women with breast cancer younger than 50 could prevent the highest number of breast and ovarian cancers, the cost-effectiveness associated with this approach was unfavorable. However, testing women with triple-negative breast cancers younger than 50 proved to be both cost effective and could substantially reduce the risk of breast and ovarian cancer. “The results of our study suggest that we should also test women with a triple-negative breast cancer under the age of 50, regardless of family history or ancestry” explains Janice Kwon.

“If all women with triple-negative breast cancers who are younger than 50 in the USA were to be tested systematically for BRCA mutations, our model predicts as much as a 23% reduction in new breast cancers and a 41% reduction in ovarian cancers, at acceptable cost. We believe that this criterion should be adopted into current guidelines for BRCA mutation testing,” concludes Kwon and her team.