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 |
|---|---|---|---|
| RS2552230774 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552233881 | Health Risk | Pathogenic | Gastric cancer, Gastric cancer |
| RS2552238958 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2552239279 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2552239689 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2552239841 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552239924 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552240116 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2552240430 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS2552250616 | Health Risk | Pathogenic | — |
| RS2552250735 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2552250848 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552250937 | Health Risk | Pathogenic | — |
| RS2552251454 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2552251752 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2552251957 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552252010 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2552252029 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2552254007 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552254053 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2552254394 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552254599 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2552254639 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552255190 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2552258074 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552258479 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2552258664 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2552258916 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, BRCA1-related cancer predisposition, Inherited breast cancer and ovarian cancer |
| RS2552269033 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2552278873 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552278937 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552278972 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552278982 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2552278993 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2552278999 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS273897652 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS273897653 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS273897656 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS273897657 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS273897659 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS273897662 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS273897663 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS273897664 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS273897665 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS273898673 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS273898674 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS273898679 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS273898681 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS273899684 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS273899686 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |