BRIP1
Chr 17ADSomaticBRCA1 interacting DNA helicase 1
Also known as: BACH1, FANCJ, OF
The BRIP1 protein is a DNA helicase that maintains chromosomal stability through DNA double-strand break repair and functions in the Fanconi anemia pathway. Mutations cause Fanconi anemia complementation group J and increase susceptibility to early-onset breast cancer. BRIP1 is inherited in an autosomal dominant pattern and is extremely intolerant to loss-of-function variants (pLI near 1.0), indicating that heterozygous mutations are likely pathogenic.
Definitive — sufficient evidence for diagnostic panels
3 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
BRIP1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
A Phase 1/1B Study of ST-01156, a Small Molecule RBM39 Degrader, in Patients With Advanced Solid Malignancies
RECRUITINGPrevalence Of Germline Gene Mutations In Patients With Myeloproliferative Neoplasms With Family History
NOT YET RECRUITINGA Bidirectional Cohort Study on Prophylactic Resection Surgery in Populations at Moderate-to-High Risk for Hereditary Ovarian Cancer
RECRUITINGTUBectomy With Delayed Oophorectomy in High Risk Women to Assess the Safety of Prevention
RECRUITINGOlaparib In Metastatic Breast Cancer
ACTIVE NOT RECRUITINGAn Intervention to Increase Genetic Testing in Families Who May Share a Gene Mutation Related to Cancer Risk and An Intervention to Help Patients and Their Primary Care Providers Stay Up-to-date About Uncertain Genetic Test Results
RECRUITINGPopulation Based Germline Testing for Early Detection and Prevention of Cancer
RECRUITINGSurgery in Preventing Ovarian Cancer in Patients With Genetic Mutations
ACTIVE NOT RECRUITINGAdapting Treatment to the Tumor Molecular Alterations for Patients With Advanced Solid Tumors: MyOwnSpecificTreatment
RECRUITINGSerial Circulating Tumor DNA (ctDNA) Monitoring During Adjuvant Capecitabine in Early Triple-negative Breast Cancer
RECRUITINGAbiraterone/Prednisone, Olaparib, or Abiraterone/Prednisone + Olaparib in Patients With Metastatic Castration-Resistant Prostate Cancer With DNA Repair Defects
ACTIVE NOT RECRUITINGCascade Testing in Families With Newly Diagnosed Hereditary Breast and Ovarian Cancer Syndrome
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools