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 |
|---|---|---|---|
| RS587781448 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS587781487 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS587781611 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial |
| RS587781825 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial |
| RS587782143 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial |
| RS587782188 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS587782190 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, BRCA1-related cancer predisposition |
| RS587782251 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial |
| RS587782392 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial |
| RS587782628 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial |
| RS587782666 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS587782709 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial |
| RS587782824 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS587782834 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial |
| RS587782879 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial |
| RS587782887 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial |
| RS62625307 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial |
| RS67284603 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS730880287 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS730880288 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS730881439 | Health Risk | Pathogenic | Familial cancer of breast, Breast-ovarian cancer, familial |
| RS730881440 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial |
| RS730881441 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial |
| RS730881454 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS730881457 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS730881458 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS730881459 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS730881461 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS730881462 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS730881471 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, BRCA1-related disorder |
| RS730881481 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS730881495 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS730882056 | Health Risk | Pathogenic | Familial cancer of breast, Breast-ovarian cancer, familial |
| RS730882057 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS730882165 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS730882167 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS747539984 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS748675395 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS748714307 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS749508254 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS752474843 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS753524038 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS754792932 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS757933953 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial |
| RS760188581 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS762635795 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS764016240 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS766614917 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Breast-ovarian cancer |
| RS767595162 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS768054411 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome |