BRIP1
Overview
BRIP1 (BRCA1-Interacting Protein C-Terminal Helicase 1, also known as FANCJ) is a DNA helicase involved in the Fanconi anemia and homologous recombination DNA repair pathways. BRIP1 germline mutations confer moderate breast and ovarian cancer risk.
Alterations observed in the corpus
- BRIP1 assessed in gallbladder carcinoma (GBC) genomic landscape study as part of the HRD gene panel PMID:36228155
- Listed among significantly mutated genes (SMGs) in the GBM TCGA genomic landscape study (71 SMGs total by MutSig + InVEx) PMID:24120142
- Loss-of-function mutation in PanNEN patient PN27 in a WGTA-guided therapy study; supported PARP-inhibitor therapy recommendation PMID:24326773
- HBOC gene (BRIP1) included in the standard multigene panel for hereditary/familial gastric cancer risk stratification PMID:24816255
- BRIP1 (FANCJ) listed as part of the Fanconi anemia pathway gene set; homozygous deleterious events in FA-pathway genes including BRIP1 were used as a DNA-repair-defect classifier predicting longer response to carboplatin in mCRPC (P = 0.02, n=20 treated men) PMID:26928463
- BRIP1 is an additional germline cancer-predisposition finding in prostate cancer (<1–1% frequency) PMID:28825054
- Two pLoF BRIP1 LP/PVs were identified in a pediatric cancer predisposition cohort (n=372); burden test not significant (OR=4.2, p=0.085). PMID:29489754
Cancer types (linked)
- GBC: assessed as part of HRD-related gene panel in MSK-IMPACT profiling PMID:36228155
Co-occurrence and mutual exclusivity
Therapeutic relevance
Open questions
Sources
This page was processed by crosslinker on 2026-05-09. - PMID:24120142
This page was processed by crosslinker on 2026-05-09. - PMID:24326773
This page was processed by wiki-cli on 2026-05-09. - PMID:24816255
This page was processed by wiki-cli on 2026-05-11. - PMID:26928463
This page was processed by entity-page-writer on 2026-05-15. - PMID:28825054
This page was processed by wiki-cli on 2026-05-15. - PMID:29489754
This page was processed by wiki-cli on 2026-05-15.