Correspondence: Multigene Panels to Evaluate Hereditary Cancer Risk: Reckless or Relevant?

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A recent editorial by Axilbund¹ accompanies two important studies of hereditary multiple gene panel tests conducted in patients with breast cancer (BC).^2,3 In one study, by Tung et al,² 488 women with incident BC were tested with a commercial non–BC-specific 25-gene panel. Mutations were identified in 10.7% patients, including 4.6% outside of BRCA1/2 in predominantly moderate penetrance BC genes, such as CHEK2, ATM, and BRIP1. Of interest, 4 (7.3%) mutations were in genes not associated with BC, including one mutation each in the Lynch syndrome (LS) genes, MSH6 and PMS2......

Studies, to date, have consistently documented the discovery of BRCA1/2 mutations among patients with CRC, LS mutations among patients with BC, and other clinically actionable, yet unexpected, findings from panel tests (approximately 3% to 13% of mutations detected).^2,5-7 Like Axilbund, we support the importance of involving genetics specialists in clinical decision making as the landscape of cancer risk assessment evolves, as well as the need for ongoing discourse about the value of testing genes with uncertain clinical implications. However, data have clearly shown that testing a patient with BC or CRC with anything other than a panel test that includes the LS genes and BRCA1/2 will miss prevalent mutations that are clinically relevant to our patients and will place them at risk for preventable cancers.