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
RS886040103 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040104 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040105 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040106 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040107 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040108 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040109 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040110 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040111 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040112 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040113 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040114 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040115 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040116 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040117 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040118 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040119 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040120 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040121 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040122 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040123 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040124 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040125 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040126 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040128 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040129 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040130 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040132 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040133 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040134 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040135 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040136 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040137 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040138 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040139 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040140 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040141 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040142 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040143 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040144 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040145 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040146 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040147 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040148 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040149 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040150 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040151 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040152 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040153 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040154 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
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