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
RS398122667 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122669 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122670 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122673 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122674 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122677 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122679 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122680 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122681 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122682 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122687 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122692 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122697 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122702 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122709 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS41293445 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS41293455 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS431825382 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS431825384 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS431825386 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS431825387 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial
RS431825389 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS431825390 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer, familial
RS431825397 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS431825398 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS431825404 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS431825409 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS431825410 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS431825414 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS45444999 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS483353078 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS483353079 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS483353085 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS483353086 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS483353092 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS483353093 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS483353095 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS483353099 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS483353108 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS55650082 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS55770810 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS562553169 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS568753972 Health Risk Pathogenic —
RS587776480 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS587776485 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS587780798 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS587780802 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS587781258 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer, familial
RS587781423 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial
RS587781427 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial
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