HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
BRIP1
BRCA1 interacting DNA helicase 1
Chromosome 17 Β· 17q23.2
NCBI Gene: 83990Ensembl: ENSG00000136492.10HGNC: HGNC:20473UniProt: A0A804HJU1
218PubMed Papers
22Diseases
0Drugs
895Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHub Gene
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
regulation of transcription by RNA polymerase II5'-3' DNA helicase activityG-quadruplex unwinding activitynuclear membraneFanconi anemia complementation group Jbreast cancerfamilial ovarian cancerHereditary breast cancer
✦AI Summary

BRIP1 encodes a DNA helicase that plays a critical role in maintaining chr17 stability through homologous recombination DNA repair 1. The protein functions as a 5'-3' DNA helicase and DNA-dependent ATPase, acting late in the Fanconi anemia pathway after FANCD2 ubiquitination. BRIP1 is involved in repairing DNA double-strand breaks through homologous recombination in association with BRCA1, and can unwind G-quadruplex DNA structures requiring a 5'-single stranded tail 1. Germline pathogenic variants in BRIP1 confer moderate to high cancer susceptibility, particularly for ovarian cancer with an odds ratio of 4.94-11.22 23. BRIP1 mutations are also significantly associated with colorectal cancer risk (OR=3.6) in Japanese populations 4 and contribute to hereditary cancer predisposition 5. The gene is considered a moderate-penetrance cancer susceptibility gene, contributing 2-3% to familial breast cancer cases 6. Clinical testing reveals BRIP1 pathogenic variants are found in approximately 0.9% of ovarian cancer patients compared to 0.09% of controls 2, making it one of the most important ovarian cancer risk genes after BRCA1/2.

Sources cited
1
BRIP1 is part of homologous recombination pathway with at least 10 genes including BRCA1, BRCA2, ATM
PMID: 35008774
2
BRIP1 mutations found in 0.9% of ovarian cancer cases vs 0.09% controls with OR 11.22
PMID: 26315354
3
Meta-analysis shows BRIP1 mutations have OR 4.94 for ovarian cancer risk
PMID: 32359370
4
BRIP1 variants significantly associated with colorectal cancer in Japanese population (OR=3.6)
PMID: 33309985
5
Clinical testing of 10,000 patients shows pathogenic variants in multiple cancer genes including BRIP1
PMID: 26681312
6
BRIP1 is moderate-penetrance gene contributing 2-3% to familial breast cancer
PMID: 39390525
Disease Associationsβ“˜22
Fanconi anemia complementation group JOpen Targets
0.84Strong
breast cancerOpen Targets
0.71Strong
familial ovarian cancerOpen Targets
0.71Strong
Hereditary breast cancerOpen Targets
0.69Moderate
hereditary breast carcinomaOpen Targets
0.69Moderate
breast carcinomaOpen Targets
0.67Moderate
ovarian cancerOpen Targets
0.62Moderate
Fanconi anemiaOpen Targets
0.60Moderate
hereditary neoplastic syndromeOpen Targets
0.58Moderate
Hereditary breast and ovarian cancer syndromeOpen Targets
0.58Moderate
Inherited cancer-predisposing syndromeOpen Targets
0.58Moderate
hereditary breast ovarian cancer syndromeOpen Targets
0.58Moderate
breast neoplasmOpen Targets
0.57Moderate
ovarian neoplasmOpen Targets
0.56Moderate
cancerOpen Targets
0.55Moderate
gastric cancerOpen Targets
0.54Moderate
breast-ovarian cancer, familial, susceptibility to, 1Open Targets
0.51Moderate
pancreatic carcinomaOpen Targets
0.49Moderate
familial pancreatic carcinomaOpen Targets
0.42Moderate
pancreatic neoplasmOpen Targets
0.42Moderate
Breast cancerUniProt
Fanconi anemia complementation group JUniProt
Pathogenic Variants895
NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Familial cancer of breast;Fanconi anemia complementation group J|not provided|Hereditary breast ovarian cancer syndrome|Fanconi anemia complementation group J|Familial cancer of breast|Malignant tumor of breast|BRIP1-associated familial cancer predisposition|Ovarian cancer;Fanconi anemia complementation group J|Inherited ovarian cancer (without breast cancer)
β˜…β˜…β˜†β˜†2026β†’ Residue 624
NM_032043.3(BRIP1):c.46del (p.Tyr16fs)Pathogenic
Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group J;Familial cancer of breast|Familial cancer of breast|BRIP1-associated familial cancer predisposition|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 16
NM_032043.3(BRIP1):c.188G>A (p.Trp63Ter)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast|Familial cancer of breast;Fanconi anemia complementation group J
β˜…β˜…β˜†β˜†2026β†’ Residue 63
NM_032043.3(BRIP1):c.2519dup (p.Ala841fs)Pathogenic
Hereditary cancer-predisposing syndrome|Familial cancer of breast;Fanconi anemia complementation group J
β˜…β˜…β˜†β˜†2026β†’ Residue 841
NM_032043.3(BRIP1):c.1741C>T (p.Arg581Ter)Pathogenic
Breast cancer, early-onset|Hereditary cancer-predisposing syndrome|not provided|Ovarian neoplasm|Familial cancer of breast;Fanconi anemia complementation group J|Familial cancer of breast|BRIP1-related disorder|Fanconi anemia complementation group D2
β˜…β˜…β˜†β˜†2026β†’ Residue 581
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)Pathogenic
Fanconi anemia complementation group J|Hereditary cancer-predisposing syndrome|Familial cancer of breast;Fanconi anemia complementation group J|not provided|Fanconi anemia|Breast cancer, early-onset|Familial cancer of breast;Esophageal atresia/tracheoesophageal fistula;Fanconi anemia complementation group J|BRIP1-related disorder|Familial cancer of breast|BRIP1-related disorder;Fanconi anemia complementation group J|Malignant tumor of breast|Breast and/or ovarian cancer|Ovarian cancer|Gastric cancer|Breast-ovarian cancer, familial, susceptibility to, 1|Neoplasm|Inherited ovarian cancer (without breast cancer)
β˜…β˜…β˜†β˜†2026β†’ Residue 798
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Familial cancer of breast;Fanconi anemia complementation group J|not provided|Fanconi anemia complementation group J|Breast and/or ovarian cancer|Breast-ovarian cancer, familial, susceptibility to, 1|Ovarian cancer|Familial cancer of breast|Hereditary breast ovarian cancer syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 800
NM_032043.3(BRIP1):c.1315C>T (p.Arg439Ter)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial cancer of breast;Fanconi anemia complementation group J|Familial ovarian cancer|Familial cancer of breast|Gastric cancer|BRIP1-related disorder|Hereditary breast ovarian cancer syndrome|Fanconi anemia complementation group J;Ovarian cancer
β˜…β˜…β˜†β˜†2026β†’ Residue 439
NM_032043.3(BRIP1):c.1941G>A (p.Trp647Ter)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Fanconi anemia complementation group J;Familial cancer of breast|Hereditary breast ovarian cancer syndrome|Fanconi anemia complementation group J|Familial cancer of breast
β˜…β˜…β˜†β˜†2026β†’ Residue 647
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro)Pathogenic
Fanconi anemia complementation group J|not specified|Hereditary cancer-predisposing syndrome|not provided|Fanconi anemia complementation group J;Familial cancer of breast|Diffuse intrinsic pontine glioma|Hereditary breast ovarian cancer syndrome|Familial cancer of breast|BRIP1-related disorder|Familial ovarian cancer
β˜…β˜…β˜†β˜†2026β†’ Residue 349
NM_032043.3(BRIP1):c.68dup (p.Ser24fs)Pathogenic
Familial cancer of breast;Fanconi anemia complementation group J|Hereditary cancer-predisposing syndrome|Familial cancer of breast|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 24
NM_032043.3(BRIP1):c.1510dup (p.Ile504fs)Pathogenic
Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group J;Familial cancer of breast|not provided|Familial cancer of breast|Fanconi anemia complementation group J|Fanconi anemia complementation group J;Ovarian cancer
β˜…β˜…β˜†β˜†2026β†’ Residue 504
NM_032043.3(BRIP1):c.2732dup (p.Thr912fs)Pathogenic
Familial cancer of breast;Fanconi anemia complementation group J|Hereditary cancer-predisposing syndrome|not provided|Ovarian cancer|Familial cancer of breast
β˜…β˜…β˜†β˜†2026β†’ Residue 912
NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast;Fanconi anemia complementation group J|Familial cancer of breast|Fanconi anemia complementation group J|Familial ovarian cancer|Fanconi anemia complementation group J;Ovarian cancer
β˜…β˜…β˜†β˜†2026β†’ Residue 458
NM_032043.3(BRIP1):c.508-1G>CPathogenic
Fanconi anemia complementation group J;Familial cancer of breast|Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group J|Familial cancer of breast|not provided|Fanconi anemia complementation group J;Ovarian cancer
β˜…β˜…β˜†β˜†2026
NM_032043.3(BRIP1):c.462dup (p.Gln155fs)Pathogenic
Fanconi anemia complementation group J;Familial cancer of breast|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Fanconi anemia complementation group J
β˜…β˜…β˜†β˜†2026β†’ Residue 155
NM_032043.3(BRIP1):c.1203_1204del (p.Ala402fs)Pathogenic
Hereditary cancer-predisposing syndrome|Familial cancer of breast|Fanconi anemia complementation group J;Familial cancer of breast
β˜…β˜…β˜†β˜†2026β†’ Residue 402
NM_032043.3(BRIP1):c.484C>T (p.Arg162Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Familial cancer of breast;Fanconi anemia complementation group J|not provided|Hereditary breast ovarian cancer syndrome|Fanconi anemia complementation group J|Gastric cancer|Familial cancer of breast|BRIP1-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 162
NM_032043.3(BRIP1):c.664A>T (p.Lys222Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group J;Familial cancer of breast|Hereditary breast ovarian cancer syndrome|Familial cancer of breast
β˜…β˜…β˜†β˜†2026β†’ Residue 222
NM_032043.3(BRIP1):c.2273dup (p.Ala759fs)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast;Fanconi anemia complementation group J|Familial cancer of breast|Fanconi anemia complementation group J;Ovarian cancer
β˜…β˜…β˜†β˜†2026β†’ Residue 759
View on ClinVar β†—
Related Genes
BLMProtein interaction100%BRCA1Protein interaction100%BRCA2Protein interaction100%MRE11Protein interaction100%EXO1Protein interaction100%MSH2Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
30%
Ovary
8%
Liver
7%
Lung
3%
Heart
1%
Gene Interaction Network
Click a node to explore
BRIP1BLMBRCA1BRCA2MRE11EXO1MSH2
PROTEIN STRUCTURE
Preparing viewer…
PDB1T15 Β· 1.85 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.85LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.70 [0.59–0.85]
RankingsWhere BRIP1 stands among ~20K protein-coding genes
  • #1,892of 20,598
    Most Researched218 Β· top 10%
  • #45of 5,498
    Most Pathogenic Variants895 Β· top 1%
  • #7,336of 17,882
    Most Constrained (LOEUF)0.85
Genes detectedBRIP1
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Hereditary cancer variants and homologous recombination deficiency in biliary tract cancer.
PMID: 36243179
J Hepatol Β· 2023
1.00
2
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
PMID: 26681312
Genet Med Β· 2016
0.90
3
Homologous Recombination Deficiencies and Hereditary Tumors.
PMID: 35008774
Int J Mol Sci Β· 2021
0.80
4
Inherited Mutations in Women With Ovarian Carcinoma.
PMID: 26720728
JAMA Oncol Β· 2016
0.72
5
Population-based Screening for Hereditary Colorectal Cancer Variants in Japan.
PMID: 33309985
Clin Gastroenterol Hepatol Β· 2022
0.70