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
RS886039993 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039994 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039995 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039996 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039998 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039999 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040001 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040002 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040003 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040004 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040005 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040006 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040007 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040008 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040009 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040010 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040012 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040013 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040015 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040016 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040017 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040018 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040019 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040020 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040022 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040023 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040024 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040025 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040026 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040027 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040028 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040029 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040030 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040031 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040032 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040033 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040034 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040035 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040036 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040038 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040039 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040040 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040041 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040042 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040043 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040044 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040045 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040046 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040047 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040048 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
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