The advent of multi-gene cancer panel testing has dramatically altered the landscape of germline cancer genetic testing. An increasing number of patients are being tested for genes beyond just high-risk, well-established culprits such as BRCA1/2 and the mismatch repair genes associated with Lynch syndrome. While broadening the scope of genetic testing allows for the increased detection of mutations overall, it is important to consider the value this information may or may not offer to individual patients as well as the possible limitations and drawbacks of expanded testing.
It has been well established that while the majority of ovarian cancers arise sporadically, up to 20% are considered to be hereditary. Mutations in the BRCA1 and BRCA2 genes provide an explanation in many of these hereditary cases, but not all suggestive personal and family histories are explained by BRCA1/2. As our awareness of additional ovarian-cancer susceptibility genes continues to grow, the scope of available genetic testing has also begun to expand.