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
RS886040210 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040211 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040212 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040213 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040214 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040215 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040216 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040217 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040218 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040219 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040220 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040221 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040222 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040223 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040225 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040226 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040227 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040228 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040229 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040230 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040231 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040232 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS886040233 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040234 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040235 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040236 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040237 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040238 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040239 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040240 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040241 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial
RS886040242 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040243 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040244 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040245 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040246 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040247 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040248 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040249 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040251 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040252 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040253 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040254 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040255 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040257 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040258 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040259 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040260 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040263 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040264 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
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