BRCA1 Chromosome 17
BRCA1 DNA repair associated
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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 |
|---|---|---|---|
| RS80357475 | Health Risk | Pathogenic/Likely pathogenic | Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial |
| RS80357477 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS80357498 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS80357658 | Health Risk | Pathogenic/Likely pathogenic | Familial cancer of breast, Breast-ovarian cancer, familial |
| RS80357748 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS80358026 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS80358029 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS80358030 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS80358038 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS80358045 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS80358054 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS80358073 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS80358074 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS80358116 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS80358158 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS80358343 | Health Risk | Pathogenic/Likely pathogenic | Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial |
| RS80358345 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS80358347 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS886038027 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS886038196 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS886039982 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS886040319 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS886040902 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS886040913 | Health Risk | Pathogenic/Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |