Germline mutation landscape of Chinese patients with familial breast/ovarian cancer in a panel of 22 susceptibility genes
Cancer Medicine Apr 18, 2019
Wang J, et al. - Using a custom-designed 22-gene panel, researchers assessed the clinical value of multigene panel testing in Chinese patients with familial breast cancer (BC). Association of most of the genes with hereditary BC was observed. They performed a cohort study of 481 patients who underwent genetic testing. Of these, 135 patients displayed pathogenic mutations, most in the BRCA1/2 gene. Younger patients (<40 years) showed significantly enriched BRCA1 mutations. The triple-negative breast cancer (TNBC) patients more frequently showed BRCA1/2 mutations. In patients less than 50, all 22 genes had higher detection rates. Thus, genetic screening seems essential in this population.
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