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Gene of the month
Gene of the month: PALB2
  1. Omar Hamdan,
  2. Klaudia M Nowak
  1. University Health Network Laboratory Medicine Program, Toronto, Ontario, Canada
  1. Correspondence to Dr Klaudia M Nowak, University Health Network Laboratory Medicine Program, Toronto, ON M5G2C3, Canada; klaudia.nowak{at}uhn.ca

Abstract

The partner and localiser of BRCA2 (PALB2) gene, located on chromosome 16, functions as a tumour suppressor that plays a critical role in homologous recombination repair after DNA double-strand breaks. It encodes proteins involved in the BRCA2 and BRCA1, and RAD51 pathways. Heterozygous germline mutations in PALB2 have been implicated in the development of breast, pancreatic and ovarian cancers. Whereas biallelic mutations of PALB2 have been associated with Fanconi anaaemia. Currently, 604 distinct PALB2 variants have been discovered. However, only 140 variants are thought to be pathogenic and approximately 400 are variants of unknown significance. Further studies are needed before the presence of PLAB2 mutations can be implemented as a routine clinical biomarker.

  • BREAST
  • PANCREAS
  • Breast Neoplasms
  • Pancreatic Neoplasms
  • Genes, Neoplasm

https://doi.org/10.1136/jcp-2022-208461

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    Footnotes

    • Handling editor Runjan Chetty.

    • Contributors Both authors were involved in preparing and reviewing the manuscript.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Commissioned; internally peer reviewed.