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
RS1555591774 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1555591796 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1555591812 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1555591814 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1555591846 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1555591909 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1555591939 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1555591956 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1555591959 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS1555591984 Health Risk Pathogenic —
RS1555591993 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1555592003 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1555592108 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1555592129 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1555592157 Health Risk Pathogenic —
RS1555592174 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1555592219 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial
RS1555592299 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1555592304 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1555592354 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1555592474 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1555592487 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1555592498 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1555592500 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1555592537 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1555592544 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1555592576 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1555592590 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1555592601 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1555592640 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1555592653 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1555592676 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555592683 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1555592723 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1555592744 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS1555592770 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1555592776 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555592859 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1555592891 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1555592938 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1555592956 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1555592986 Health Risk Pathogenic —
RS1555593007 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1555593017 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1555593020 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial
RS1555593031 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer, familial
RS1555593043 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1555593134 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS1555593195 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1555593207 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
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