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 |
|---|---|---|---|
| RS2052400799 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2052407546 | Health Risk | Pathogenic | — |
| RS2052414656 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS2052416215 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2052422166 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial |
| RS2052585246 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome |
| RS2052588365 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2052589590 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2052594151 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2052727486 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2052734372 | Health Risk | Pathogenic | Familial cancer of breast, Hereditary breast ovarian cancer syndrome, Familial cancer of breast |
| RS2053054217 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2053473970 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2053475644 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2053490037 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2053505662 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome |
| RS2053508051 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2053531990 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2053543910 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2053570708 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2053585404 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2053622241 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2053623304 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2053627043 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS2053656452 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2053663370 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial |
| RS2053690127 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2053694038 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Breast carcinoma, Fanconi anemia |
| RS2053722405 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2053723557 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS2053746603 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2053749811 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome |
| RS2053749959 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2053758543 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2053777729 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome |
| RS2053780973 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2053792576 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2053796108 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2053796291 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome |
| RS2053810963 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2053817949 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2053824237 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2053840407 | Health Risk | Pathogenic | Breast and/or ovarian cancer, Breast and/or ovarian cancer |
| RS2053853194 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2053874117 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2053899411 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome |
| RS2053901114 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2053901700 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome |
| RS2053906428 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2053913899 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |