BRCA1 Gene: Role in Hereditary Breast and Ovarian Cancer
Comprehensive overview of BRCA1, its function, associated diseases, expression, mutations, and clinical significance.
Gene Information Card
| Symbol | BRCA1 |
|---|---|
| Full Name | BRCA1 DNA repair associated |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000012048 |
| UniProt ID | P38398 |
| OMIM ID | 113705 |
| HGNC ID | 1100 |
| Aliases | BRCAI, BRCC1, FANCS, PPP1R53, RNF53, BROVCA1 |
Description
The BRCA1 gene encodes a tumor suppressor protein involved in DNA double-strand break repair, homologous recombination, cell cycle checkpoint control, and transcriptional regulation. Mutations in BRCA1 are associated with increased risk of breast, ovarian, and other cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Loss of function leads to defective DNA repair, genomic instability, and tumorigenesis | ClinVar, OMIM |
| Ovarian cancer | Defective homologous recombination repair increases susceptibility | ClinVar, OMIM |
| Fanconi anemia complementation group S | Biallelic mutations cause a rare subtype with developmental defects and cancer predisposition | OMIM |
| Pancreatic cancer | Pathogenic variants increase risk | ClinVar |
| Prostate cancer | Pathogenic variants increase risk | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Breast | 8.2 | Medium |
| Ovary | 4.5 | Low |
| Testis | 3.1 | Low |
| Bone marrow | 2.0 | Low |
| Brain | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 12.3 | High expression |
| HeLa (cervical cancer) | 8.7 | Moderate |
| A549 (lung cancer) | 6.2 | Moderate |
| HepG2 (liver cancer) | 4.1 | Low |
| K562 (leukemia) | 2.8 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.68_69delAG (p.Glu23ValfsTer17) | Frameshift | Common in Ashkenazi Jewish population | Loss of function, high cancer risk |
| c.5266dupC (p.Gln1756ProfsTer74) | Frameshift | Common in Ashkenazi Jewish population | Loss of function, high cancer risk |
| c.181T>G (p.Cys61Gly) | Missense | Rare | Loss of function, disrupts RING finger domain |
| c.4327C>T (p.Arg1443Ter) | Nonsense | Rare | Truncated protein, loss of function |
| c.5470_5477del8 (p.Leu1824ValfsTer2) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic BRCA1 mutations are loss-of-function, leading to truncated or non-functional protein, impairing DNA repair and increasing cancer risk.
Gain of Function (GOF)
Not commonly described; some variants may have dominant-negative effects but are not classic gain-of-function.
Dominant Negative (DN)
Certain missense mutations in the RING domain can exert dominant-negative effects by interfering with wild-type BRCA1 function.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • ubiquitin-protein transferase activity |
| • zinc ion binding | • protein homodimerization activity |
| • damaged DNA binding | • enzyme binding |
| • identical protein binding | • protein domain specific binding |
| • ubiquitin conjugating enzyme binding | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
Pathways
• Homologous recombination repair
• Fanconi anemia pathway
• Cell cycle checkpoints
• DNA damage response
• BRCA1-dependent ubiquitination
Protein Summary
BRCA1 is a 1863-amino acid protein with a RING finger domain at the N-terminus and two BRCT domains at the C-terminus. It functions as a tumor suppressor by mediating DNA repair, cell cycle arrest, and transcriptional regulation. It interacts with BRCA2, PALB2, and other proteins to form complexes essential for homologous recombination.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BRCA1 (p.R1443*) Point Mutation in HAP1 Cell Line | EDC03415 | Human | 672 | Details Get a Quote |
| BRCA1 (c.442-34C>T )Point Mutation in HAP1 Cell Line | EDC03416 | Human | 672 | Details Get a Quote |
| BRCA1 Overexpression HCC1937 Stable Cell Line | EDC01719 | Human | 672 | Details Get a Quote |
| BRCA1 Knockout MCF-7 Cell Line | EDJ-KQ78104 | Human | 672 | Details Get a Quote |
| BRCA1 Knockout HEK293T Cell Line | EDJ-KQ78130 | Human | 672 | Details Get a Quote |
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