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 |
|---|---|---|---|
| RS2053797991 | Health Risk | Likely pathogenic | Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial |
| RS2054036647 | Health Risk | Likely pathogenic | — |
| RS2054639807 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2054675041 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2055253295 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2055713838 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2152547868 | Health Risk | Likely pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome |
| RS2153051225 | Health Risk | Likely pathogenic | Breast and/or ovarian cancer, Breast and/or ovarian cancer |
| RS2153069688 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2153070428 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2153075593 | Health Risk | Likely pathogenic | — |
| RS2153993720 | Health Risk | Likely pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2154020080 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2154249606 | Health Risk | Likely pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2154326853 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2154361062 | Health Risk | Likely pathogenic | Breast carcinoma, Breast carcinoma |
| RS2154367150 | Health Risk | Likely pathogenic | Ovarian carcinoma, Ovarian carcinoma |
| RS2154441580 | Health Risk | Likely pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2154475092 | Health Risk | Likely pathogenic | Breast carcinoma, Breast-ovarian cancer, familial |
| RS2154478354 | Health Risk | Likely pathogenic | Breast carcinoma, Breast carcinoma |
| RS2154490085 | Health Risk | Likely pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2154527022 | Health Risk | Likely pathogenic | Breast carcinoma, Breast carcinoma |
| RS2154578048 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2477088364 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2545880403 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2545898782 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2546718821 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2547484740 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2547516324 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2550169186 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2551492564 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2551499549 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2551500621 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2551679304 | Health Risk | Likely pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2552090105 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2552095504 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2552135694 | Health Risk | Likely pathogenic | — |
| RS2552136027 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2552152892 | Health Risk | Likely pathogenic | — |
| RS2552158713 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2552185681 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2552186867 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2552190253 | Health Risk | Likely pathogenic | — |
| RS2552193244 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2552195617 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2552200242 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2552226249 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2552230725 | Health Risk | Likely pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2552238579 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552239712 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |