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Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

BRIP1

The information on this page was automatically extracted from online scientific databases.

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?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/83990):

The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008]

From UniProt (http://www.uniprot.org/uniprot/Q9BX63):

DNA-dependent ATPase and 5' to 3' DNA helicase required for the maintenance of chromosomal stability. Acts late in the Fanconi anemia pathway, after FANCD2 ubiquitination. Involved in the repair of DNA double-strand breaks by homologous recombination in a manner that depends on its association with BRCA1.

How are changes in the BRIP1 gene related to health conditions?

Genetics Home Reference provides information about these conditions associated with changes in the BRIP1 gene:
  • breast cancer
  • Fanconi anemia
UniProt (http://www.uniprot.org/uniprot/Q9BX63) provides the following information about the BRIP1 gene's known or predicted involvement in human disease.

Breast cancer (BC): A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. Disease susceptibility is associated with variations affecting the gene represented in this entry.

Fanconi anemia complementation group J (FANCJ): A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. The disease is caused by mutations affecting the gene represented in this entry.

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/83990) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the BRIP1 gene.
  • Familial cancer of breast
  • Fanconi anemia, complementation group J
  • Tracheoesophageal fistula
OMIM.org (http://omim.org/), a catalog designed for genetics professionals and researchers, provides the following information about the BRIP1 gene and its association with health conditions.
OMIM
Number
Title

Where is the BRIP1 gene located?

Cytogenetic Location: 17q22.2

Molecular Location on chromosome 17: base pairs 61,679,185 to 61,863,936

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 61,679,185 to base pair 61,863,936 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.

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

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

  • BACH1
  • FANCJ
  • 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?

anemia ; bilateral ; bone marrow ; cancer ; carcinoma ; cardiac ; chromosome ; DNA ; DNA repair ; epithelial ; familial ; fistula ; gene ; germline ; helicase ; locus ; neoplasms ; predisposition ; protein ; renal ; susceptibility ; thrombopenia ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

 

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.

 
Published: July 27, 2015