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Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis

24 Oct 2018

Abstract excerpt

Reports of variable cancer penetrance in Li-Fraumeni syndrome (LFS) have raised questions regarding the prevalence of pathogenic germline TP53 variants. We previously reported higher-than-expected population prevalence estimates in sequencing databases composed of individuals unselected for cancer history. This study aimed to expand and further evaluate the prevalence of pathogenic and likely pathogenic germline...

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PMID: 30352134
DOI: 10.1002/humu.23673

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