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
RS886040155 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040156 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040157 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040158 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040159 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040160 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040161 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040162 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040163 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040164 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040165 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040166 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040167 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040168 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040169 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040170 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040171 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040172 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040174 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040175 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040176 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040177 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040178 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040179 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040180 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040181 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040182 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040183 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040184 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040185 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040186 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040187 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040188 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040189 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040191 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040192 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040194 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040197 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial
RS886040198 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040199 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040200 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040201 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040202 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040203 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040204 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040205 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040206 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040207 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040208 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040209 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
« Prev 1 ... 99 100 101 102 103 104 105 ... 108 Next »
Sign Up to Analyze Your DNA Log In