ClinGen Dosage Sensitivity Curation Page
BRCA1
- Curation Status: Complete
- id: ISCA-20827
- Date last evaluated: 2015-11-16
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about BRCA1 at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/672
- OMIM: https://omim.org/entry/113705
- Gene Reviews: https://www.ncbi.nlm.nih.gov/books/NBK1247/?term=BRCA1
- ClinGen Haploinsufficiency Score: 3
- ClinGen Triplosensitivity Score: 0
Select assembly:
(NC_000017.10)
(NC_000017.11)
- Haploinsufficiency score: 3
- Strength of Evidence (disclaimer): Sufficient evidence for dosage pathogenicity
- Haploinsufficiency Phenotype: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1
Haploinsufficiency phenotype comments:
Loss of function mutations in BRCA1 (nonsense, frameshift, splice site, and exonic deletions) as well as whole gene deletions of BRCA1 have been associated with cancer development (Genereviews and PMIDs: 21989022, 17661172, and 22762150). The penetrance associated with BRCA1 mutations is still an active area of study; however, patients with pathogenic BRCA1 mutations are thought to have an increased lifetime risk of developing breast cancer (50-80% in females, 1-2% in males), ovarian cancer (24-40%), prostate cancer (up to 30%), and pancreatic cancer (1-7%) (Genereviews Table 3).
- Triplosensitivity score: 0
- Strength of Evidence (disclaimer): No evidence for dosage pathogenicity
Triplosensitivity phenotype comment:
At this time there is no evidence to support the triplosensitivity of this gene.