Functional characterization of 84 PALB2 variants of uncertain significance
Abstract
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 relevance.The influence of 84 VUS on PALB2...
Paper Details
Title
Functional characterization of 84 PALB2 variants of uncertain significance
Published Date
Mar 1, 2020
Journal
Volume
22
Issue
3
Pages
622 - 632
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