BRCA1 Chromosome 17

BRCA1 DNA repair associated
5374 variants 5374 Health Risk

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
RS886040265 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040266 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040267 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040268 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040269 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040270 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040271 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040274 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040275 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040276 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040277 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040278 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040279 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040280 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040281 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040282 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040284 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040285 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040286 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040287 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040288 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040289 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040290 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040291 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040292 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040293 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040294 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040295 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040297 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040298 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040300 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040301 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040302 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040303 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040304 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040305 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040306 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040307 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040308 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040309 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040310 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040311 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040312 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040313 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040314 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040315 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040316 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040317 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040318 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040320 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
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