New concepts on BARD1: Regulator of BRCA pathways and beyond

Irmgard Irminger-Finger; Magda Ratajska; Maxim Pilyugin

doi:10.1016/j.biocel.2015.12.008

New concepts on BARD1: Regulator of BRCA pathways and beyond

Int J Biochem Cell Biol. 2016 Mar:72:1-17. doi: 10.1016/j.biocel.2015.12.008. Epub 2015 Dec 29.

Authors

Irmgard Irminger-Finger¹, Magda Ratajska², Maxim Pilyugin³

Affiliations

¹ Molecular Gynecology and Obstetrics Laboratory, Department of Gynecology and Obstetrics and Department of Medical Genetics and Laboratories, University Hospitals Geneva, Geneva, Switzerland; Centre for Cell Therapy and Regenerative Medicine, University of Western Australia, Nedlands, WA, Australia. Electronic address: irmgard.irminger@unige.ch.
² Centre for Cell Therapy and Regenerative Medicine, University of Western Australia, Nedlands, WA, Australia; Department of Gynecology and Obstetrics, Medical University of Gdansk, Gdansk, Poland.
³ Molecular Gynecology and Obstetrics Laboratory, Department of Gynecology and Obstetrics and Department of Medical Genetics and Laboratories, University Hospitals Geneva, Geneva, Switzerland.

PMID: 26738429
DOI: 10.1016/j.biocel.2015.12.008

Abstract

For nearly two decades most research on BARD1 was closely linked to research on BRCA1, the breast cancer predisposition gene. The co-expression of BARD1 and BRCA1 genes in most tissues, the nearly identical phenotype of Bard1 and Brca1 knock-out mice, and the fact that BRCA1 and BARD1 proteins form a stable complex, led to the general assumption that BARD1 acts as an accessory to BRCA1. More recent research on both proteins showed that BRCA1 and BARD1 might have common as well as separate functions. This review is an overview of how BARD1 functions and controls BRCA1. It highlights also experimental evidence for dominant negative, tumor promoting, functions of aberrant isoforms of BARD1 that are associated with and drivers of various types of cancer.

Keywords: Alternative splicing; Cancer biomarker; Cancer predisposition; Cancer treatment; Competing endogenous RNA.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Amino Acid Sequence
Animals
BRCA1 Protein / metabolism*
Epigenesis, Genetic
Humans
Molecular Sequence Data
Neoplasms / genetics
Neoplasms / metabolism
Neoplasms / pathology
Neoplasms / therapy
Phenotype
Protein Isoforms / chemistry
Protein Isoforms / deficiency
Protein Isoforms / genetics
Protein Isoforms / metabolism
Tumor Suppressor Proteins / chemistry
Tumor Suppressor Proteins / deficiency
Tumor Suppressor Proteins / genetics
Tumor Suppressor Proteins / metabolism*

Substances

BRCA1 Protein
Protein Isoforms
Tumor Suppressor Proteins