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Analysis of hereditary cancer syndromes by using a panel of genes: Novel and multiple pathogenic mutations

BMC Cancer Jun 10, 2019

Tsaousis GN, et al. - Researchers sought to examine the extent and nature of variants in genes involved in hereditary cancer predisposition in total, 1197 individuals from Greece, Romania and Turkey that were referred to their laboratory for genetic testing in the past 4 years. Among these individuals, 264 (22.1%) displayed a pathogenic variant while 34.8% of cases had a variant of uncertain significance. They analyzed 36 genes; of these, 29 displayed clinically significant variants. Concerning the mutation distribution among individuals with positive findings, the BRCA1/2 genes carried 43.6% of the mutation while other high, moderate and low-risk genes carried 21.6%, 19.9%, and 15.0%, respectively. Analysis of all the genes in the panel thereby revealed 4.3% and 8.1% additional pathogenic variants in other high or moderate/low risk genes, respectively, in this cohort. This may allow personalized management decisions for these individuals and establishes the clinical significance of multigene panel analysis in hereditary cancer predisposition.
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