Response: Multigene panels to evaluate hereditary cancer risk: Reckless or relevant? Ovarian Cancer and Us OVARIAN CANCER and US Ovarian Cancer and Us

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Monday, August 22, 2016

Response: Multigene panels to evaluate hereditary cancer risk: Reckless or relevant?



Reply to M.J. Hall et al and K.N. Maxwell et al

Hall et al1 call for testing BRCA1/2 and Lynch syndrome genes in all patients with breast cancer and/or colorectal cancer who undergo genetic testing, regardless of whether the family history is consistent with both syndromes. The literature on frequency of unexpected findings on broad panel tests is growing rapidly, but there remains a paucity of data on the penetrance of historically high-risk genes when variants are identified in individuals and families who are not suggestive of the associated syndrome. Current guidelines for the management of patients with pathogenic variants in BRCA1/2 and Lynch syndrome genes were developed primarily on the basis of penetrance in families that were phenotypically consistent with hereditary breast and ovarian cancer or Lynch syndrome, respectively. It remains to be seen what the penetrance ranges will be in patients and/or families who are essentially undergoing genetic screening for syndromes for which their reported diagnosis and history is not presently suggestive......


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