Comment
doi: 10.1016/j.trecan.2020.01.017.
Epub 2020 Feb 13.
PALB2 Genetic Variants: Can Functional Assays Assist Translation?
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- PMID: 32209438
- DOI: 10.1016/j.trecan.2020.01.017
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Comment
PALB2 Genetic Variants: Can Functional Assays Assist Translation?
Trends Cancer.
2020 Apr.
Abstract
PALB2 loss-of-function variants are associated with increased risk of breast and other cancers, but the clinical relevance of missense variants (MVs) remains uncertain. Recent findings reported by Wiltshire et al., Rodrigue et al., and Boonen et al. demonstrate that some MVs disrupt PALB2 function. This new information will support the clinical management of families who carry these MVs and inform their treatment.
Keywords: PALB2; cancer risk; functional assays; genetic testing; missense variants.
Copyright © 2020 Elsevier Inc. All rights reserved.
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A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor.Nucleic Acids Res. 2019 Nov 18;47(20):10662-10677. doi: 10.1093/nar/gkz780. Nucleic Acids Res. 2019. PMID: 31586400 Free PMC article.
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Functional characterization of 84 PALB2 variants of uncertain significance.Genet Med. 2020 Mar;22(3):622-632. doi: 10.1038/s41436-019-0682-z. Epub 2019 Oct 21. Genet Med. 2020. PMID: 31636395 Free PMC article.
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Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2.Nat Commun. 2019 Nov 22;10(1):5296. doi: 10.1038/s41467-019-13194-2. Nat Commun. 2019. PMID: 31757951 Free PMC article.
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