PALB2 Genetic Variants: Can Functional Assays Assist Translation?

Melissa C Southey; Amanda Rewse; Tu Nguyen-Dumont

doi:10.1016/j.trecan.2020.01.017

PALB2 Genetic Variants: Can Functional Assays Assist Translation?

Trends Cancer. 2020 Apr;6(4):263-265. doi: 10.1016/j.trecan.2020.01.017. Epub 2020 Feb 13.

Authors

Melissa C Southey¹, Amanda Rewse², Tu Nguyen-Dumont³

Affiliations

¹ Precision Medicine, School of Clinical Science at Monash Health, Monash University Clayton, VIC 3168, Australia; Department of Clinical Pathology, The University of Melbourne, Melbourne, VIC 3010, Australia; Cancer Epidemiology Division, Cancer Council Victoria, Melbourne, VIC 3004, Australia. Electronic address: melissa.southey@monash.edu.
² Precision Medicine, School of Clinical Science at Monash Health, Monash University Clayton, VIC 3168, Australia.
³ Precision Medicine, School of Clinical Science at Monash Health, Monash University Clayton, VIC 3168, Australia; Department of Clinical Pathology, The University of Melbourne, Melbourne, VIC 3010, Australia.

PMID: 32209438
DOI: 10.1016/j.trecan.2020.01.017

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.

Publication types

Comment

MeSH terms

Fanconi Anemia Complementation Group N Protein
Genetic Predisposition to Disease*
Humans
Mutation, Missense*

Substances

Fanconi Anemia Complementation Group N Protein
PALB2 protein, human