title: New concepts on BARD1: Regulator of BRCA pathways and beyond.
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.
authors.affiliation: 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.
authors.forename: Irmgard
authors.initials: I
authors.lastname: Irminger-Finger
authors.affiliation: 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.
authors.forename: Magda
authors.initials: M
authors.lastname: Ratajska
authors.affiliation: Molecular Gynecology and Obstetrics Laboratory, Department of Gynecology and Obstetrics and Department of Medical Genetics and Laboratories, University Hospitals Geneva, Geneva, Switzerland.
authors.forename: Maxim
authors.initials: M
authors.lastname: Pilyugin
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D019313:BRCA1 Protein / Q000378:metabolism*; D044127:Epigenesis, Genetic; D006801:Humans; D008969:Molecular Sequence Data; D009369:Neoplasms / Q000235:genetics / Q000378:metabolism / Q000473:pathology / Q000628:therapy; D010641:Phenotype; D020033:Protein Isoforms / Q000737:chemistry / Q000172:deficiency / Q000235:genetics / Q000378:metabolism; D025521:Tumor Suppressor Proteins / Q000737:chemistry / Q000172:deficiency / Q000235:genetics / Q000378:metabolism*
chemical_list: D019313:BRCA1 Protein; D020033:Protein Isoforms; D025521:Tumor Suppressor Proteins
keywords: Alternative splicing; Cancer biomarker; Cancer predisposition; Cancer treatment; Competing endogenous RNA