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Factors predicting reclassification of variants of unknown significance

American Journal of Surgery Sep 13, 2018

Wright M, et al. - As genetic variants of unknown significance (VUS) are an increasingly common result of genetic testing, researchers investigated the role, if any, of family history in VUS reclassification over time. They analyzed all genetic tests performed at a tertiary referral center 2006-2015 for the presence of VUS and evaluated patients with VUS for demographics, clinical characteristics, family history, and gene characteristics. Outcomes suggest that an increased positive family history of the disease can predict the likelihood of VUS reclassification. VUS mostly reclassify to benign, but one-fourth of these reclassify to pathogenic. They recommend assessing the actual risk of a VUS based on family history and routinely checking these for reclassification.
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