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
RS80357806 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357808 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357809 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357810 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357811 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357812 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80357813 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80357814 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80357815 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357816 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357817 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357818 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357819 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357820 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357821 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357822 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357823 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80357824 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80357825 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357827 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357828 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357829 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357830 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357831 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357832 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357833 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357834 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357835 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357836 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357837 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357838 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357839 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357840 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357841 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357842 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357843 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357844 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357845 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357847 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357848 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357849 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357850 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357851 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357852 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357854 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357855 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357856 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357857 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357858 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357859 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
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