BRIP1
  • 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
BRIP1 (HGNC:20473) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
BRCA1 interacting helicase 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
OF, BACH1, FANCJ
%HI
17.47(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.85(Read more about gnomAD LOEUF score)
Cytoband
17q23.2
Genomic Coordinates
GRCh37/hg19: chr17:59756500-59940889 NCBI Ensembl UCSC
GRCh38/hg38: chr17:61679139-61863528 NCBI Ensembl UCSC
MANE Select Transcript
NM_032043.3 ENST00000259008.7 (Read more about MANE Select)
Function
DNA-dependent helicase and 5' to 3' DNA helicase required for the maintenance of chromosomal stability (PubMed:11301010, PubMed:14983014, PubMed:16116421, PubMed:16153896, PubMed:36608669). Acts late in the Fanconi anemia pathway, after FANCD2 ubiquitination (PubMed:14983014, PubMed:16153896). Involved in the repair of DNA double-strand breaks by homologous recombination in a manner that depends on its association with BRCA1 (PubMed:14983014, PubMed:16153896). Involved in the repair of abasic si... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-8320
ClinGen Curation ID:
CCID:006762
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
02/15/2019

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
HI Evidence:
  • PUBMED: 29368626
    Weber-Lassale et al. 2018 - study of 6341 patients with breast cancer and 706 patients with ovarian cancer, with 2189 matched female controls. Found LoF mutations (including nonsense mutations, splicing mutations, small intragenic deletions) in BRIP1 confer an increased risk for ovarian cancer, but not breast cancer. Specifically 18 truncating mutations were found in the ovarian cancer group (carrier frequency of 2.55%, and a higher carrier frequency in familial ovarian cancer cases) versus 3 LoF mutations found in the controls.
  • PUBMED: 26720728
    Norquist et al. 2016 - study of 1915 women with ovarian cancer, 26 mutations seen in BRIP1, including a nonsense mutation and intragenic deletions and insertions. After BRCA1/2, mutations in BRIP1 were the most common in the population of patients with ovarian cancer.
  • PUBMED: 26315354
    Ramus et al. 2015 - study of 3236 patients with ovarian cancer and 3431 controls, statistically significant difference seen in the number of deleterious mutations in BRIP1 between patients and controls. BRIP1 mutations (including nonsense mutations, splicing, intragenic deletions and insertions) found in 30 patients with ovarian cancer and 3 found in the control group.
HI Evidence Comments:
LOF mutations cause an increased risk cancer, specifically ovarian cancer. Previously thought to convey an increased risk for breast cancer, but newest literature (Weber-Lassalle 2018 (PMID 29368626), Couch 2017 (PMID 28418444), Easton 2016 (PMID 26921362), Tung 2016 (PMID 27296296) suggest no significant increased risk for breast, just the increased risk for ovarian cancer. Biallelic mutations in BRIP1 cause Fanconi anemia.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
At this time there is no evidence to support the triplosensitivity of this gene

Genomic View

Select assembly: (NC_000017.10) (NC_000017.11)