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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 disorders - caused by mutations in the BRCA2 gene

A condition known as Fanconi anemia type D1 (FA-D1) results when two faulty copies of the BRCA2 gene are present in each cell. These mutations reduce the amount of the BRCA2 protein to very low levels. Without enough of this protein, breaks in DNA are not repaired normally and genetic damage can accumulate. As a result, people with Fanconi anemia are prone to several types of cancer, including cancers of blood-forming tissue (leukemias). They are also at an increased risk of developing solid tumors, particularly of the head, neck, skin, and reproductive organs. Additionally, people with Fanconi anemia experience bone marrow suppression, which causes an abnormal reduction in the number of red blood cells, white blood cells, and blood platelets made by the bone marrow. The reduced production of red blood cells causes the anemia characteristic of this disorder.

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 32,315,479 to 32,399,671

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 32,315,479 to base pair 32,399,671 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 ; blood platelets ; bone marrow ; cancer ; cell ; cell division ; class ; cytokinesis ; cytoplasm ; DNA ; gene ; hereditary ; melanoma ; nucleus ; ovarian ; pancreatic ; platelets ; prostate ; protein ; radiation ; susceptibility ; susceptibility gene ; tissue ; tumor ; white blood cells

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.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)
  • Dumitrescu RG, Cotarla I. Understanding breast cancer risk -- where do we stand in 2005? J Cell Mol Med. 2005 Jan-Mar;9(1):208-21. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15784178?dopt=Abstract)
  • Foulkes WD, Metcalfe K, Sun P, Hanna WM, Lynch HT, Ghadirian P, Tung N, Olopade OI, Weber BL, McLennan J, Olivotto IA, Bégin LR, Narod SA. Estrogen receptor status in BRCA1- and BRCA2-related breast cancer: the influence of age, grade, and histological type. Clin Cancer Res. 2004 Mar 15;10(6):2029-34. (http://www.ncbi.nlm.nih.gov/pubmed/15041722?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)
  • Hussain S, Witt E, Huber PA, Medhurst AL, Ashworth A, Mathew CG. Direct interaction of the Fanconi anaemia protein FANCG with BRCA2/FANCD1. Hum Mol Genet. 2003 Oct 1;12(19):2503-10. Epub 2003 Aug 5. (http://www.ncbi.nlm.nih.gov/pubmed/12915460?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)
  • Nkondjock A, Ghadirian P. Epidemiology of breast cancer among BRCA mutation carriers: an overview. Cancer Lett. 2004 Mar 8;205(1):1-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15040392?dopt=Abstract)
  • Powell SN, Kachnic LA. Roles of BRCA1 and BRCA2 in homologous recombination, DNA replication fidelity and the cellular response to ionizing radiation. Oncogene. 2003 Sep 1;22(37):5784-91. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12947386?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)
  • 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)
  • Scully R, Puget N. BRCA1 and BRCA2 in hereditary breast cancer. Biochimie. 2002 Jan;84(1):95-102. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11900881?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)
  • Venkitaraman AR. Cancer susceptibility and the functions of BRCA1 and BRCA2. Cell. 2002 Jan 25;108(2):171-82. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11832208?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)
  • Walsh T, Casadei S, Coats KH, Swisher E, Stray SM, Higgins J, Roach KC, Mandell J, Lee MK, Ciernikova S, Foretova L, Soucek P, King MC. Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA. 2006 Mar 22;295(12):1379-88. (http://www.ncbi.nlm.nih.gov/pubmed/16551709?dopt=Abstract)
  • Wang X, D'Andrea AD. The interplay of Fanconi anemia proteins in the DNA damage response. DNA Repair (Amst). 2004 Aug-Sep;3(8-9):1063-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15279794?dopt=Abstract)
  • Warren M, Lord CJ, Masabanda J, Griffin D, Ashworth A. Phenotypic effects of heterozygosity for a BRCA2 mutation. Hum Mol Genet. 2003 Oct 15;12(20):2645-56. Epub 2003 Aug 19. (http://www.ncbi.nlm.nih.gov/pubmed/12928478?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: November 17, 2014