BRCA1
Basics
Aliases:
This biomarker is also known as:- breast cancer 1, early onset,
- PSCP,
- BROVCA1,
- PPP1R53,
- breast and ovarian cancer susceptibility protein 1,
- PNCA4,
- BRCA1/BRCA2-containing complex, subunit 1,
- BRCAI,
- breast and ovarian cancer sususceptibility protein 1,
- protein phosphatase 1, regulatory subunit 53,
- EC 6.3.2.-,
- BRCC1,
- RING finger protein 53,
- IRIS,
- RNF53,
- breast cancer type 1 susceptibility protein,
Description…
BRCA1 is a nuclear phosphoprotein that functions as a tumor suppressor. BRCA1 combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). BRCA1 associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers.
Attributes
| QA State: | Curated |
|---|---|
| Type: | Protein |
| Short Name: | |
| HGNC Name: | BRCA1 |
Datasets
There are no datasets associated with this biomarker.
Organs
The following organs have data associated with this biomarker…
Breast
Attributes
| Phase: | Two |
|---|---|
| QA State: | Under Review |
Overview
BRCA1 is expressed in breast tissue and has been shown to be overexpressed in cancer.
Performance Comment
BRCA1 was one of numerous potential early detection biomarkers specific to triple-negative breast cancer in multiple pathways identified.
Studies
This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact Heather Kincaid at heather.kincaid@jpl.nasa.gov if you should have access to this biomarker.
Publications
- Plasma biomarker profiles differ depending on breast cancer subtype but RANTES is consistently increased.
- Discovery and preliminary confirmation of novel early detection biomarkers for triple-negative breast cancer using preclinical plasma samples from the Women's Health Initiative observational study.
Resources
Gene
- HGNC entry for BRCA1 from Genenames
- KEGG entry for BRCA1 from Genome.jp
- Entrez entry for BRCA1 all NCBI Databasese
- Human GEO Profiles for BRCA1 from NCBI GEO Profiles
- Human Geo Datasets containing term BRCA1 from NCBI GEO Datasets
- GWAS Study Datasets containing gene BRCA1 from GWAS
- Human Single Nucleotide Polymorphisms info for BRCA1
- Human Gene(s) with 'BRCA1' as Gene Name/Alias
- Human Gene RefSeq for BRCA1 from NCBI
- GeneCards entry for human BRCA1
Protein
- UniProtKB/Swiss-Prot entry for BRCA1 from Uniprot
- Human Protein RefSeq for BRCA1 from NCBI
- FDA web page describing approval of BRCA1
Other
Biomuta
Mutation Statistics
| Gene Name: | BRCA1 |
|---|---|
| UniProt Accession #: | P38398 |
| Mutated Sites Count: | 1477 |
| Associated Pubmed ID Count | 1 |
| CancerDO Count | 32 |
| Affected Protein Function Sites Count: | 1 |
