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
RS80357746 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357747 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357749 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357750 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357753 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357754 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357756 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80357757 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357758 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357760 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357762 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357763 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357764 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80357765 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357766 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357767 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80357768 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357769 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357770 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS80357772 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80357773 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357774 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357775 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357776 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357778 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80357779 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357780 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357781 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80357782 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357783 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357784 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer, familial
RS80357785 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357786 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357787 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357788 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357790 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357791 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357792 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357793 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357794 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357795 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357796 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357797 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80357798 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357799 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357800 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357801 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357802 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer, familial
RS80357804 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357805 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
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