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 |
|---|---|---|---|
| RS1555579627 | Health Risk | Likely pathogenic | Malignant tumor of breast, Breast-ovarian cancer, familial |
| RS1555579648 | Health Risk | Likely pathogenic | Hereditary breast ovarian cancer syndrome, Pancreatic cancer, susceptibility to |
| RS1555584251 | Health Risk | Likely pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS1555591170 | Health Risk | Likely pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS1555591703 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS1555591746 | Health Risk | Likely pathogenic | Breast cancer, susceptibility to, Breast cancer |
| RS1555592766 | Health Risk | Likely pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS1555596373 | Health Risk | Likely pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS1555597152 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1555599205 | Health Risk | Likely pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS1555599226 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS1567769155 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial |
| RS1567769244 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial |
| RS1567782959 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS1567790559 | Health Risk | Likely pathogenic | Breast and/or ovarian cancer, Breast and/or ovarian cancer |
| RS1567792876 | Health Risk | Likely pathogenic | — |
| RS1567794885 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, BRCA1-related cancer predisposition |
| RS1567823382 | Health Risk | Likely pathogenic | Familial cancer of breast, Breast-ovarian cancer, familial |
| RS1597797251 | Health Risk | Likely pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS1597801649 | Health Risk | Likely pathogenic | Hereditary breast ovarian cancer syndrome, Malignant tumor of breast, Breast-ovarian cancer |
| RS1597810544 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial |
| RS1597819841 | Health Risk | Likely pathogenic | — |
| RS1597825560 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS1597848407 | Health Risk | Likely pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2050856829 | Health Risk | Likely pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2050859456 | Health Risk | Likely pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2050860958 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2050864747 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2050891633 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2051069083 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2051085308 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2051198464 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2051868691 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2051913334 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2051925024 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2051929740 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2051931458 | Health Risk | Likely pathogenic | — |
| RS2052159968 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2052363535 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2052365251 | Health Risk | Likely pathogenic | — |
| RS2052392843 | Health Risk | Likely pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2053427306 | Health Risk | Likely pathogenic | — |
| RS2053429850 | Health Risk | Likely pathogenic | — |
| RS2053440925 | Health Risk | Likely pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome |
| RS2053492284 | Health Risk | Likely pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2053528623 | Health Risk | Likely pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2053618983 | Health Risk | Likely pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2053667627 | Health Risk | Likely pathogenic | — |
| RS2053777106 | Health Risk | Likely pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2053790230 | Health Risk | Likely pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |