BRCA1 Chromosome 17
BRCA1 DNA repair associated
Upload your DNA to see your personal genotypes for variants in BRCA1.
What This Gene Does
This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of DNA. The encoded protein 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). This gene product 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. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2020]
Gene Info
Gene Group
"Ring finger proteins|FA complementation groups|Protein phosphatase 1 regulatory subunits|BRCA1 A complex|BRCA1 B complex|BRCA1 C complex"
Locus Type
gene with protein product
Location
17q21.31
Ensembl
ENSG00000012048
Associated Conditions (66)
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
BRCA1-related disorder
Breast-ovarian cancer
familial
susceptibility to
1
Fanconi anemia
complementation group S
Familial cancer of breast
Pancreatic cancer
4
BRCA1-related cancer predisposition
Hereditary cancer
Breast and/or ovarian cancer
Breast cancer
Inherited breast cancer and ovarian cancer
2
Familial pancreatic carcinoma
+46 more conditions
Key Variants
RS1011096937
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Malignant tumor of breast
Health Risk
RS1015073230
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1022076404
Conflicting classifications of pathogenicity
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, BRCA1-related disorder
Health Risk
RS1029207537
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1036328075
Conflicting classifications of pathogenicity
Breast-ovarian cancer, familial, susceptibility to
Health Risk
RS1038244014
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1050289746
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1055368753
Conflicting classifications of pathogenicity
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
Health Risk
RS1057519249
Conflicting classifications of pathogenicity
Breast-ovarian cancer, familial, susceptibility to
Health Risk
RS1057519495
Conflicting classifications of pathogenicity
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
Health Risk
RS1057519496
Conflicting classifications of pathogenicity
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
Health Risk
RS1057520246
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
All Variants (5374)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2552155255 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial |
| RS2552173275 | Health Risk | Pathogenic/Likely pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2552181197 | Health Risk | Pathogenic/Likely pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2552182764 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2552183224 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2552186265 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2552189026 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial |
| RS273901754 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS28897672 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS397507242 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS397507244 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS397508858 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS397509025 | Health Risk | Pathogenic/Likely pathogenic | Familial cancer of breast, Breast-ovarian cancer, familial |
| RS397509165 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS397509170 | Health Risk | Pathogenic/Likely pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Breast-ovarian cancer |
| RS397509173 | Health Risk | Pathogenic/Likely pathogenic | Breast neoplasm, Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS397509211 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS397509212 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS397509231 | Health Risk | Pathogenic/Likely pathogenic | Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial |
| RS397509236 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS397509243 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS397509253 | Health Risk | Pathogenic/Likely pathogenic | Familial cancer of breast, Breast-ovarian cancer, familial |
| RS397509263 | Health Risk | Pathogenic/Likely pathogenic | Familial cancer of breast, Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS397509264 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS397509277 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS397509279 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial |
| RS397509326 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS398122699 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS431825406 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS45553935 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS483353071 | Health Risk | Pathogenic/Likely pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS483353091 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS55851803 | Health Risk | Pathogenic/Likely pathogenic | Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial |
| RS587781632 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial |
| RS786202906 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial |
| RS797045175 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group A, Breast-ovarian cancer, familial |
| RS80356862 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS80356880 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS80356914 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS80356959 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS80356988 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS80357074 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS80357094 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS80357150 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS80357164 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS80357227 | Health Risk | Pathogenic/Likely pathogenic | Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial |
| RS80357287 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS80357370 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS80357390 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS80357410 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |