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Genetics Home Reference: your guide to understanding genetic conditions
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BRIP1

Reviewed August 2007

What is the official name of the BRIP1 gene?

The official name of this gene is “BRCA1 interacting protein C-terminal helicase 1.”

BRIP1 is the gene's official symbol. The BRIP1 gene is also known by other names, listed below.

What is the normal function of the BRIP1 gene?

The BRIP1 gene provides instructions for making a protein that is involved in repairing damaged DNA. Within the nucleus of cells, the BRIP1 protein interacts with the protein produced from the BRCA1 gene. These two proteins work together to mend broken strands of DNA, which prevents cells from accumulating genetic damage that can trigger them to divide uncontrollably. Because BRIP1 and BRCA1 help control the rate of cell growth and division, these proteins are described as tumor suppressors.

DNA is arranged in two long strands that form a spiral called a double helix. The BRIP1 protein acts as a helicase, which means that it attaches to particular regions of DNA and temporarily separates the two strands. By unwinding the strands near sites of DNA damage, the BRIP1 protein allows other proteins (such as BRCA1) to reach damaged areas and fix them. Breaks in DNA 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 mistakes in DNA, the BRIP1 protein plays a role in maintaining the stability of a cell's genetic information.

Does the BRIP1 gene share characteristics with other genes?

The BRIP1 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 BRIP1 gene related to health conditions?

breast cancer - associated with the BRIP1 gene

Recent studies have found that certain inherited mutations in the BRIP1 gene are associated with an increased risk of developing breast cancer. These mutations occur in one copy of the gene in each cell and lead to the production of an abnormally short, nonfunctional version of the BRIP1 protein. If this protein is defective or missing, it is unable to interact with the BRCA1 protein to repair damaged DNA effectively. As defects accumulate in DNA, they can trigger cells to grow and divide uncontrollably and form a tumor.

Researchers have also studied other types of variation in the BRIP1 gene and their potential influence on breast cancer risk. Many of these variations change a single building block (amino acid) used to make the BRIP1 protein. Although some studies found evidence that certain BRIP1 variations are associated with increased breast cancer risk, other studies found no such connection. Overall, it appears that changes in the BRIP1 gene are not a major contributor to the risk of developing breast cancer.

other disorders - caused by mutations in the BRIP1 gene

A condition called Fanconi anemia type J (FA-J) results from two mutated copies of the BRIP1 gene in each cell. These mutations severely reduce or eliminate the activity of the BRIP1 protein. Without enough of this protein, breaks in DNA are not repaired normally and genetic damage can build up over time. 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.

Where is the BRIP1 gene located?

Cytogenetic Location: 17q22.2

Molecular Location on chromosome 17: base pairs 59,756,546 to 59,940,919

The BRIP1 gene is located on the long (q) arm of chromosome 17 at position 22.2.

The BRIP1 gene is located on the long (q) arm of chromosome 17 at position 22.2.

More precisely, the BRIP1 gene is located from base pair 59,756,546 to base pair 59,940,919 on chromosome 17.

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 BRIP1?

You and your healthcare professional may find the following resources about BRIP1 helpful.

  • MedlinePlus - Health information
    Encyclopedia: Fanconi's Anemia (http://www.nlm.nih.gov/medlineplus/ency/article/000334.htm)
  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1401/)

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for BRIP1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=83990%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=(BRIP1%5BTIAB%5D)%20OR%20((BACH1%5BTIAB%5D)%20OR%20(FANCJ%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%20720%20days%22%5Bdp%5D)

  • OMIM - Genetic disorder catalog

    • BRCA1-INTERACTING PROTEIN 1 (http://omim.org/entry/605882)
    • FANCONI ANEMIA, COMPLEMENTATION GROUP J (http://omim.org/entry/609054)

  • Research Resources - Tools for researchers

    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_BRIP1.html)
    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/83990)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=83990)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=20473)

What other names do people use for the BRIP1 gene or gene products?

  • ATP-dependent RNA helicase BRIP1
  • BACH1
  • BRCA1-associated C-terminal helicase 1
  • BRCA1-binding helicase-like protein BACH1
  • BRCA1-interacting protein 1
  • FANCJ
  • FANCJ_HUMAN
  • Fanconi anemia group J protein
  • OF

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 BRIP1?

amino acid ; anemia ; ATP ; blood platelets ; bone marrow ; cancer ; cell ; cell division ; DNA ; DNA damage ; double helix ; gene ; helicase ; nucleus ; platelets ; protein ; radiation ; RNA ; 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

  • Cantor S, Drapkin R, Zhang F, Lin Y, Han J, Pamidi S, Livingston DM. The BRCA1-associated protein BACH1 is a DNA helicase targeted by clinically relevant inactivating mutations. Proc Natl Acad Sci U S A. 2004 Feb 24;101(8):2357-62. Erratum in: Proc Natl Acad Sci U S A. 2004 Apr 27;101(17):6834. (http://www.ncbi.nlm.nih.gov/pubmed/14983014?dopt=Abstract)
  • Cantor SB, Bell DW, Ganesan S, Kass EM, Drapkin R, Grossman S, Wahrer DC, Sgroi DC, Lane WS, Haber DA, Livingston DM. BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function. Cell. 2001 Apr 6;105(1):149-60. (http://www.ncbi.nlm.nih.gov/pubmed/11301010?dopt=Abstract)
  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/83990)
  • Frank B, Hemminki K, Meindl A, Wappenschmidt B, Sutter C, Kiechle M, Bugert P, Schmutzler RK, Bartram CR, Burwinkel B. BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study. BMC Cancer. 2007 May 15;7:83. (http://www.ncbi.nlm.nih.gov/pubmed/17504528?dopt=Abstract)
  • Levitus M, Waisfisz Q, Godthelp BC, de Vries Y, Hussain S, Wiegant WW, Elghalbzouri-Maghrani E, Steltenpool J, Rooimans MA, Pals G, Arwert F, Mathew CG, Zdzienicka MZ, Hiom K, De Winter JP, Joenje H. The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. Nat Genet. 2005 Sep;37(9):934-5. Epub 2005 Aug 21. (http://www.ncbi.nlm.nih.gov/pubmed/16116423?dopt=Abstract)
  • Levran O, Attwooll C, Henry RT, Milton KL, Neveling K, Rio P, Batish SD, Kalb R, Velleuer E, Barral S, Ott J, Petrini J, Schindler D, Hanenberg H, Auerbach AD. The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. Nat Genet. 2005 Sep;37(9):931-3. Epub 2005 Aug 21. (http://www.ncbi.nlm.nih.gov/pubmed/16116424?dopt=Abstract)
  • Lewis AG, Flanagan J, Marsh A, Pupo GM, Mann G, Spurdle AB, Lindeman GJ, Visvader JE, Brown MA, Chenevix-Trench G; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer. Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer. Breast Cancer Res. 2005;7(6):R1005-16. Epub 2005 Oct 21. (http://www.ncbi.nlm.nih.gov/pubmed/16280053?dopt=Abstract)
  • Peng M, Litman R, Jin Z, Fong G, Cantor SB. BACH1 is a DNA repair protein supporting BRCA1 damage response. Oncogene. 2006 Apr 6;25(15):2245-53. (http://www.ncbi.nlm.nih.gov/pubmed/16462773?dopt=Abstract)
  • Seal S, Thompson D, Renwick A, Elliott A, Kelly P, Barfoot R, Chagtai T, Jayatilake H, Ahmed M, Spanova K, North B, McGuffog L, Evans DG, Eccles D; Breast Cancer Susceptibility Collaboration (UK), Easton DF, Stratton MR, Rahman N. Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet. 2006 Nov;38(11):1239-41. Epub 2006 Oct 8. (http://www.ncbi.nlm.nih.gov/pubmed/17033622?dopt=Abstract)
  • Song H, Ramus SJ, Kjaer SK, Hogdall E, Dicioccio RA, Whittemore AS, McGuire V, Hogdall C, Jacobs IJ, Easton DF, Ponder BA, Dunning AM, Gayther SA, Pharoah PD. Tagging single nucleotide polymorphisms in the BRIP1 gene and susceptibility to breast and ovarian cancer. PLoS One. 2007 Mar 7;2(3):e268. (http://www.ncbi.nlm.nih.gov/pubmed/17342202?dopt=Abstract)
  • Vahteristo P, Yliannala K, Tamminen A, Eerola H, Blomqvist C, Nevanlinna H. BACH1 Ser919Pro variant and breast cancer risk. BMC Cancer. 2006 Jan 24;6:19. (http://www.ncbi.nlm.nih.gov/pubmed/16430786?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: May 20, 2013