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Current review of TP53 pathogenic germline variants in breast cancer patients outside Li-Fraumeni syndrome

22 Sept 2018

Abstract excerpt

Pathogenic germline variants in TP53 predispose carriers to the multi-cancer Li-Fraumeni syndrome (LFS). Widespread multigene panel testing is identifying TP53 pathogenic variants in breast cancer patients outside the strict clinical criteria recommended for LFS testing. We aimed to assess frequency and clinical implications of TP53 pathogenic variants in breast cancer cohorts ascertained outside LFS....

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PMID: 30240537
DOI: 10.1002/humu.23656

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