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Article

Functional characterization of novel germline TP53 variants in Swedish families

12 May 2019

Abstract excerpt

Pathogenic germline TP53 variants predispose to a wide range of early onset cancers, often recognized as the Li-Fraumeni syndrome (LFS). They are also identified in 1% of families with hereditary breast cancer (HrBC) that do not fulfill the criteria for LFS. In this study, we present a total of 24 different TP53 variants identified in 31 Swedish families with LFS or HrBC. Ten of these variants, nine exonic and...

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PMID: 31081129
DOI: 10.1111/cge.13564

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