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Article

Functional characterization of 84 PALB2 variants of uncertain significance

21 Oct 2019

Abstract excerpt

PURPOSE: Inherited pathogenic variants in PALB2 are associated with increased risk of breast and pancreatic cancer. However, the functional and clinical relevance of many missense variants of uncertain significance (VUS) identified through clinical genetic testing is unclear. The ability of patient-derived germline missense VUS to disrupt PALB2 function was assessed to identify variants with potential clinical...

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PMID: 31636395
DOI: 10.1038/s41436-019-0682-z

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