PALB2 Genetic Variants: Can Functional Assays Assist Translation?

Research output: Contribution to journalShort SurveyOtherpeer-review

2 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)263-265
Number of pages3
JournalTrends In Cancer
Volume6
Issue number4
DOIs
Publication statusPublished - 1 Apr 2020

Keywords

  • cancer risk
  • functional assays
  • genetic testing
  • missense variants
  • PALB2

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