Reviewed March 2011
What is the official name of the BARD1 gene?
The official name of this gene is “BRCA1 associated RING domain 1.”
BARD1 is the gene's official symbol. The BARD1 gene is also known by other names, listed below.
What is the normal function of the BARD1 gene?
The BARD1 gene provides instructions for making a protein that helps control cell growth and division. Within the nucleus of cells, the BARD1 protein interacts with the protein produced from the BRCA1 gene. Together, these two proteins act as tumor suppressors, which means they prevent cells from growing and dividing too rapidly or in an uncontrolled way.
The BARD1 and BRCA1 proteins work together to repair damaged DNA. Research has shown that the BARD1 protein binds to the BRCA1 protein, which stabilizes both proteins and targets the BRCA1 protein to sites where DNA strands are broken. Breaks in DNA can be caused by natural and medical radiation or other environmental exposures, but also occur when chromosomes exchange genetic material in preparation for cell division. By helping repair damaged DNA, the BARD1 and BRCA1 proteins play a critical role in maintaining the stability of a cell's genetic information.
Studies suggest that the BARD1 protein also has functions apart from its partnership with the BRCA1 protein. The BARD1 protein interacts with another protein, p53 (which is produced from the TP53 gene) to promote controlled cell death (apoptosis) and regulate cell division. Other potential functions of the BARD1 protein are under study.
How are changes in the BARD1 gene related to health conditions?
- breast cancer - associated with the BARD1 gene
The role of BARD1 mutations in cancer risk is uncertain. Although some research studies have found that changes in the BARD1 gene may influence a person's risk of developing breast cancer, other studies have not supported this association.
Mutations in the BARD1 gene may prevent the BARD1 protein from helping repair damaged DNA. As defects accumulate in DNA, they can allow cells to grow and divide uncontrollably and form a tumor. Additionally, BARD1 mutations may prevent cells from self-destructing (undergoing apoptosis) when they are damaged or no longer needed, which can also contribute to the formation and progression of cancerous tumors.
Where is the BARD1 gene located?
Cytogenetic Location: 2q34-q35
Molecular Location on chromosome 2: base pairs 215,593,261 to 215,674,427
The BARD1 gene is located on the long (q) arm of chromosome 2 between positions 34 and 35.
More precisely, the BARD1 gene is located from base pair 215,593,261 to base pair 215,674,427 on chromosome 2.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about BARD1?
You and your healthcare professional may find the following resources about BARD1 helpful.
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for BARD1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=580%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((BARD1%5BTIAB%5D)%20OR%20(BRCA1%20associated%20RING%20domain%201%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/601593)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_BARD1.html)
- Cancer Genetics Web: BARD1 (http://www.cancerindex.org/geneweb/BARD1.htm)
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/580)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=580)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=952)
What other names do people use for the BARD1 gene or gene products?
- BRCA1-associated RING domain gene 1
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding BARD1?
cell division ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/580)
- Feki A, Jefford CE, Berardi P, Wu JY, Cartier L, Krause KH, Irminger-Finger I. BARD1 induces apoptosis by catalysing phosphorylation of p53 by DNA-damage response kinase. Oncogene. 2005 May 26;24(23):3726-36. (http://www.ncbi.nlm.nih.gov/pubmed/15782130?dopt=Abstract)
- Huo X, Hu Z, Zhai X, Wang Y, Wang S, Wang X, Qin J, Chen W, Jin G, Liu J, Gao J, Wei Q, Wang X, Shen H. Common non-synonymous polymorphisms in the BRCA1 Associated RING Domain (BARD1) gene are associated with breast cancer susceptibility: a case-control analysis. Breast Cancer Res Treat. 2007 May;102(3):329-37. Epub 2006 Sep 21. (http://www.ncbi.nlm.nih.gov/pubmed/17028982?dopt=Abstract)
- Irminger-Finger I, Jefford CE. Is there more to BARD1 than BRCA1? Nat Rev Cancer. 2006 May;6(5):382-91. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16633366?dopt=Abstract)
- Jakubowska A, Cybulski C, Szymańska A, Huzarski T, Byrski T, Gronwald J, Debniak T, Górski B, Kowalska E, Narod SA, Lubiński J. BARD1 and breast cancer in Poland. Breast Cancer Res Treat. 2008 Jan;107(1):119-22. Epub 2007 Feb 27. (http://www.ncbi.nlm.nih.gov/pubmed/17333333?dopt=Abstract)
- Karppinen SM, Barkardottir RB, Backenhorn K, Sydenham T, Syrjäkoski K, Schleutker J, Ikonen T, Pylkäs K, Rapakko K, Erkko H, Johannesdottir G, Gerdes AM, Thomassen M, Agnarsson BA, Grip M, Kallioniemi A, Kere J, Aaltonen LA, Arason A, Møller P, Kruse TA, Borg A, Winqvist R. Nordic collaborative study of the BARD1 Cys557Ser allele in 3956 patients with cancer: enrichment in familial BRCA1/BRCA2 mutation-negative breast cancer but not in other malignancies. J Med Genet. 2006 Nov;43(11):856-62. Epub 2006 Jul 6. (http://www.ncbi.nlm.nih.gov/pubmed/16825437?dopt=Abstract)
- Sauer MK, Andrulis IL. Identification and characterization of missense alterations in the BRCA1 associated RING domain (BARD1) gene in breast and ovarian cancer. J Med Genet. 2005 Aug;42(8):633-8. (http://www.ncbi.nlm.nih.gov/pubmed/16061562?dopt=Abstract)
- Simons AM, Horwitz AA, Starita LM, Griffin K, Williams RS, Glover JN, Parvin JD. BRCA1 DNA-binding activity is stimulated by BARD1. Cancer Res. 2006 Feb 15;66(4):2012-8. (http://www.ncbi.nlm.nih.gov/pubmed/16489000?dopt=Abstract)
- Stacey SN, Sulem P, Johannsson OT, Helgason A, Gudmundsson J, Kostic JP, Kristjansson K, Jonsdottir T, Sigurdsson H, Hrafnkelsson J, Johannsson J, Sveinsson T, Myrdal G, Grimsson HN, Bergthorsson JT, Amundadottir LT, Gulcher JR, Thorsteinsdottir U, Kong A, Stefansson K. The BARD1 Cys557Ser variant and breast cancer risk in Iceland. PLoS Med. 2006 Jul;3(7):e217. (http://www.ncbi.nlm.nih.gov/pubmed/16768547?dopt=Abstract)
- Vahteristo P, Syrjäkoski K, Heikkinen T, Eerola H, Aittomäki K, von Smitten K, Holli K, Blomqvist C, Kallioniemi OP, Nevanlinna H. BARD1 variants Cys557Ser and Val507Met in breast cancer predisposition. Eur J Hum Genet. 2006 Feb;14(2):167-72. (http://www.ncbi.nlm.nih.gov/pubmed/16333312?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.