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Genetics Home Reference: your guide to understanding genetic conditions
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BRCA2

Reviewed August 2007

What is the official name of the BRCA2 gene?

The official name of this gene is “breast cancer 2, early onset.”

BRCA2 is the gene's official symbol. The BRCA2 gene is also known by other names, listed below.

What is the normal function of the BRCA2 gene?

The BRCA2 gene belongs to a class of genes known as tumor suppressor genes. Like many other tumor suppressors, the protein produced from the BRCA2 gene helps prevent cells from growing and dividing too rapidly or in an uncontrolled way.

The BRCA2 gene provides instructions for making a protein that is directly involved in the repair of damaged DNA. In the nucleus of many types of normal cells, the BRCA2 protein interacts with several other proteins, including the proteins produced from the RAD51 and PALB2 genes, to mend breaks in DNA. These breaks can be caused by natural and medical radiation or other environmental exposures, and also occur when chromosomes exchange genetic material in preparation for cell division. By helping repair DNA, BRCA2 plays a role in maintaining the stability of a cell's genetic information.

Researchers suspect that the BRCA2 protein may have additional functions within cells. For example, the protein may help regulate cytokinesis, which is the step in cell division when the fluid surrounding the nucleus (the cytoplasm) divides to form two separate cells. Researchers are investigating the protein's other potential activities.

Does the BRCA2 gene share characteristics with other genes?

The BRCA2 gene belongs to a family of genes called FANC (Fanconi anemia, complementation groups).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the BRCA2 gene related to health conditions?

breast cancer - increased risk from variations of the BRCA2 gene

Researchers have identified more than 800 mutations in the BRCA2 gene, many of which are associated with an increased risk of breast cancer. Many BRCA2 mutations insert or delete a small number of DNA building blocks (nucleotides) in the gene. Most of these genetic changes disrupt protein production from one copy of the gene in each cell, resulting in an abnormally small, nonfunctional version of the BRCA2 protein. Researchers believe that the defective BRCA2 protein is unable to help repair damaged DNA or fix mutations that occur in other genes. As these defects accumulate, they can allow cells to grow and divide uncontrollably and form a tumor.

other cancers - increased risk from variations of the BRCA2 gene

In addition to female breast cancer, mutations in one copy of the BRCA2 gene can lead to an increased risk of ovarian cancer, prostate cancer, pancreatic cancer, fallopian tube cancer, male breast cancer, and an aggressive form of skin cancer called melanoma. Mutations in the central part of the gene have been associated with a higher risk of ovarian cancer and a lower risk of prostate cancer than mutations in other parts of the gene.

Where is the BRCA2 gene located?

Cytogenetic Location: 13q12.3

Molecular Location on chromosome 13: base pairs 32,314,861 to 32,399,849

The BRCA2 gene is located on the long (q) arm of chromosome 13 at position 12.3.

The BRCA2 gene is located on the long (q) arm of chromosome 13 at position 12.3.

More precisely, the BRCA2 gene is located from base pair 32,314,861 to base pair 32,399,849 on chromosome 13.

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 BRCA2?

You and your healthcare professional may find the following resources about BRCA2 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the BRCA2 gene or gene products?

  • brca 2 gene
  • BRCA2_HUMAN
  • BRCC2
  • Breast Cancer 2, Early Onset Gene
  • Breast Cancer 2 Gene
  • Breast Cancer, Type 2
  • Breast Cancer Type 2 Susceptibility Gene
  • Breast cancer type 2 susceptibility protein
  • FACD
  • FAD
  • FAD1
  • FANCB
  • FANCD1
  • Hereditary Breast Cancer 2

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 BRCA2?

anemia ; cancer ; cell ; cell division ; class ; cytokinesis ; cytoplasm ; DNA ; gene ; hereditary ; melanoma ; nucleus ; ovarian ; pancreatic ; prostate ; protein ; radiation ; susceptibility ; susceptibility gene ; tumor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References

  • Alter BP, Rosenberg PS, Brody LC. Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. J Med Genet. 2007 Jan;44(1):1-9. Epub 2006 Jul 6. (http://www.ncbi.nlm.nih.gov/pubmed/16825431?dopt=Abstract)
  • Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 2007 Apr 10;25(11):1329-33. (http://www.ncbi.nlm.nih.gov/pubmed/17416853?dopt=Abstract)
  • Foulkes WD, Shuen AY. In brief: BRCA1 and BRCA2. J Pathol. 2013 Aug;230(4):347-9. doi: 10.1002/path.4205. Review. (http://www.ncbi.nlm.nih.gov/pubmed/23620175?dopt=Abstract)
  • Foulkes WD. BRCA1 and BRCA2 - update and implications on the genetics of breast cancer: a clinical perspective. Clin Genet. 2014 Jan;85(1):1-4. doi: 10.1111/cge.12291. Epub 2013 Oct 25. Review. Erratum in: Clin Genet. 2014 Mar;85(3):302. (http://www.ncbi.nlm.nih.gov/pubmed/24116874?dopt=Abstract)
  • Friebel TM, Domchek SM, Rebbeck TR. Modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: systematic review and meta-analysis. J Natl Cancer Inst. 2014 Jun;106(6):dju091. doi: 10.1093/jnci/dju091. Review. Erratum in: J Natl Cancer Inst. 2014 Aug;106(8):dju235 doi:10.1093/jnci/dju235. (http://www.ncbi.nlm.nih.gov/pubmed/24824314?dopt=Abstract)
  • Gene Review: BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer (http://www.ncbi.nlm.nih.gov/books/NBK1247)
  • Howlett NG, Taniguchi T, Olson S, Cox B, Waisfisz Q, De Die-Smulders C, Persky N, Grompe M, Joenje H, Pals G, Ikeda H, Fox EA, D'Andrea AD. Biallelic inactivation of BRCA2 in Fanconi anemia. Science. 2002 Jul 26;297(5581):606-9. Epub 2002 Jun 13. (http://www.ncbi.nlm.nih.gov/pubmed/12065746?dopt=Abstract)
  • King MC. A novel BRCA2-binding protein and breast and ovarian tumorigenesis. N Engl J Med. 2004 Mar 18;350(12):1252-3. (http://www.ncbi.nlm.nih.gov/pubmed/15028830?dopt=Abstract)
  • Levy-Lahad E, Friedman E. Cancer risks among BRCA1 and BRCA2 mutation carriers. Br J Cancer. 2007 Jan 15;96(1):11-5. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17213823?dopt=Abstract)
  • Lubinski J, Phelan CM, Ghadirian P, Lynch HT, Garber J, Weber B, Tung N, Horsman D, Isaacs C, Monteiro AN, Sun P, Narod SA. Cancer variation associated with the position of the mutation in the BRCA2 gene. Fam Cancer. 2004;3(1):1-10. (http://www.ncbi.nlm.nih.gov/pubmed/15131399?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/675)
  • Nelson HD, Huffman LH, Fu R, Harris EL; U.S. Preventive Services Task Force. Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: systematic evidence review for the U.S. Preventive Services Task Force. Ann Intern Med. 2005 Sep 6;143(5):362-79. Review. Erratum in: Ann Intern Med. 2005 Oct 4;143(7):547. (http://www.ncbi.nlm.nih.gov/pubmed/16144895?dopt=Abstract)
  • Rudkin TM, Foulkes WD. BRCA2: breaks, mistakes and failed separations. Trends Mol Med. 2005 Apr;11(4):145-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15823750?dopt=Abstract)
  • Shahid T, Soroka J, Kong EH, Malivert L, McIlwraith MJ, Pape T, West SC, Zhang X. Structure and mechanism of action of the BRCA2 breast cancer tumor suppressor. Nat Struct Mol Biol. 2014 Nov;21(11):962-8. doi: 10.1038/nsmb.2899. Epub 2014 Oct 5. (http://www.ncbi.nlm.nih.gov/pubmed/25282148?dopt=Abstract)
  • Shamoo Y. Structural insights into BRCA2 function. Curr Opin Struct Biol. 2003 Apr;13(2):206-11. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12727514?dopt=Abstract)
  • Wagner JE, Tolar J, Levran O, Scholl T, Deffenbaugh A, Satagopan J, Ben-Porat L, Mah K, Batish SD, Kutler DI, MacMillan ML, Hanenberg H, Auerbach AD. Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia. Blood. 2004 Apr 15;103(8):3226-9. Epub 2004 Jan 8. (http://www.ncbi.nlm.nih.gov/pubmed/15070707?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 healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: August 2007
Published: March 23, 2015