Occult cancer: suspected breast and BRCA gene mutations

Currently, the best means of managing and preventing breast cancer is through early detection and identification of women who are at significantly increased risk for the disease. Those who are at increased risk are candidates for genetic testing involving the BRCA1 and BRCA2 genes. However, those who present with an occult cancer present a significant challenge in regard to etiology, which can have an impact on decisions about cancer risk management. We report here on two cases demonstrating an association between occult cancer, with suspected breast primary, and the presence of a BRCA gene mutation. These cases draw attention to the fact that occurrences of occult cancer, in particular those with a suspected breast primary, warrant consideration of genetic testing for possible mutations in the BRCA1 and BRCA2 genes. This is especially important as identification of a mutation will impact secondary cancer risk and medical management decisions.