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 |
|---|---|---|---|
| RS2154381368 | Health Risk | Pathogenic | Malignant tumor of breast, Malignant tumor of breast |
| RS2154384493 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2154385474 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2154386642 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2154389241 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2154391486 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2154391568 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2154395922 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2154396775 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2154397327 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2154404837 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2154416271 | Health Risk | Pathogenic | Malignant tumor of breast, Malignant tumor of breast |
| RS2154418702 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2154419366 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2154421251 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2154425630 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2154427068 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2154428779 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome |
| RS2154428923 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2154430392 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2154434603 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2154442124 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome |
| RS2154445945 | Health Risk | Pathogenic | — |
| RS2154447439 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2154451153 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2154453207 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2154456229 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial |
| RS2154458213 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2154459525 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2154471163 | Health Risk | Pathogenic | Familial cancer of breast, Ovarian neoplasm, Familial cancer of breast |
| RS2154473109 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome |
| RS2154475632 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Fanconi anemia, complementation group S |
| RS2154476126 | Health Risk | Pathogenic | Malignant tumor of breast, Breast-ovarian cancer, familial |
| RS2154476235 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome |
| RS2154480403 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2154480585 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2154481407 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2154481843 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2154485304 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2154489483 | Health Risk | Pathogenic | Malignant tumor of breast, Malignant tumor of breast |
| RS2154489566 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2154492047 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Periventricular nodular heterotopia |
| RS2154492556 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2154496548 | Health Risk | Pathogenic | Malignant tumor of breast, Hereditary breast ovarian cancer syndrome, Malignant tumor of breast |
| RS2154501062 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2154527880 | Health Risk | Pathogenic | — |
| RS2154548547 | Health Risk | Pathogenic | Malignant tumor of breast, Malignant tumor of breast |
| RS2154548776 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2154550229 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2154551556 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |