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BRIP1

SNP Table

variant	genotype	frequency	risk allele
rs137852986
rs587781572
rs146768638
rs752586524
rs753683450
rs4988342
rs7226248
rs76477362
rs9897593
rs9944467
rs10515211
rs112418991
rs11390869
rs115458325
rs11653175
rs11658539
rs12935923
rs12948762
rs12949659
rs142116858

22811 associated SNPs in total

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Summary GHR Function Frequently Asked Questions

Summary

BRIP1 encodes a protein required for the maintenance of chromosomal stability. It helps repair DNA double-strand breaks (R).

Mutations of this gene can cause increase in cancer risk (R).

Protein names

BRCA1 interacting protein C-terminal helicase 1 [Source:HGNC Symbol;Acc:HGNC:20473]

GHR Function

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.

More Information

BRIP1 GENE – BRCA1 (Breast Cancer 1) Interacting Protein C-terminal (BRIP1) Gene

BRIP1, also known as BACH1 (BRCA1-associated C-terminal Helicase-1) or FANCJ (Fanconi Anemia Complementation Group J), is a member of the helicase family [1]. Helicases are necessary for numerous processes involving DNA [2].The role of DNA helicases has been directly linked to diseases in humans [3].

The BRIP1 DNA helicase binds with BRCA1 to form a complex which checks for DNA damage. These checks allow for the repair of DNA breaks, control gene stability and help to prevent tumors [1,3]. BACH1 (BRIP1) mutations have been shown to prevent DNA repair by inhibiting helicase activity [3,4] . DNA repair is necessary to regulate normal cell growth [1]. These disruptions are linked to several types of cancer including breast, ovarian and cervical [1].

Mutations in BRIP1 also lead to the development of Fanconi Anemia (FA). FA is an instability in genes which results in developmental abnormalities, bone marrow failure, solid tumors and a predisposition to cancer [1].

Changes in BRIP1 gene significantly increase a woman’s chances of developing ovarian cancer. The risk of female breast cancer increases by 12.5% over a lifetime. However the mutation causes no known cancer risks in men [5].

Covered on Genetics Home Reference: Fanconi anemiaovarian cancerbreast cancerFrom NCBI Gene: Tracheoesophageal fistulaFanconi anemia, complementation group JFamilial cancer of breastFrom UniProt: 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. [MIM:114480] 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. [MIM:609054]

From NCBI Gene: 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: 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.

Frequently Asked Questions

Why Are Alleles for This SNP Different Elsewhere? Major vs. Reference Allele Is My Variant Good or Bad? SNP vs. Mutation

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BRIP1

SNP Table

Find on This Page

Summary

Protein names

GHR Function

More Information

Frequently Asked Questions

Unlock Personalized Results And So Much More!

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Essential

Bundle

Ultimate Bundle

Limited Time Offer 25% Off

Individual DNA Reports

Methylation Pathway - MTHFR Test

Histamine Intolerance DNA Pathway Report

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Autoimmune Disease Risk & Prevention DNA Report

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