Caveat Emptor: The Perils of Panel Testing in Hereditary Breast Cancer.
Journal of Clinical Oncology
American Society of Clinical Oncology
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Taylor, A., & Tischkowitz, M. (2019). Caveat Emptor: The Perils of Panel Testing in Hereditary Breast Cancer.. Journal of Clinical Oncology, 37 (24), 2176-2177. https://doi.org/10.1200/JCO.19.00122
In a recent issue of Journal of Clinical Oncology, Beitsch et al1 argue for expanded panel testing in all patients with a diagnosis of breast cancer. Their argument rests on the finding that of patients who met National Comprehensive Cancer Network guidelines, 9.39% had a pathogenic/likely pathogenic (P/LP) variant, whereas of those patients who did not meet National Comprehensive Cancer Network guidelines, 7.9% had a P/LP variant. These figures, however, include many variants in genes that have no definite proven association with an increased risk of breast cancer.2 These results may thus represent incidental findings that could equally be found in an unselected population and will not inform the management of their disease. Indeed, even at below the expected carrier frequency of one in 50, monoallelic variants in the recessively inherited gene MUTYH account for a full 20% of the reported findings in patients who did not meet NCCN guidelines. These findings are not pertinent and amount to population screening.
External DOI: https://doi.org/10.1200/JCO.19.00122
This record's URL: https://www.repository.cam.ac.uk/handle/1810/296757
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