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
RS886039933 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039934 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039935 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039936 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039937 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039938 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039940 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039941 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039942 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039943 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039945 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039946 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039949 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039950 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039951 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039952 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039953 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039954 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039955 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039956 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039959 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039960 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039961 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039962 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039963 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039965 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039966 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039967 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039968 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039969 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039970 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039971 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039973 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039974 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039975 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039976 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039977 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039978 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039979 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039980 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039981 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039983 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039985 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039986 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039987 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039988 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039989 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039990 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039991 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039992 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
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