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BRCA1 - BRCA1 DNA repair associated
- Synonym(s) : BRCA1/BRCA2-containing complex, subunit 1, BRCC1, Fanconi anemia, complementation group S, FANCS, PPP1R53, protein phosphatase 1, regulatory subunit 53, RNF53
- Previous symbols and names : breast cancer 1, breast cancer 1, early onset
- Type : gene with protein product
- Chromosomal location : 17q21.31
- OMIM: 113705
- HGNC: 1100
- UniProtKB: P38398
- Genatlas: BRCA1
- GenCC: BRCA1
- Ensembl: ENSG00000012048
- IUPHAR-DB: -
- Reactome: P38398
- LOVD: BRCA1
Diseases list
- Disease-causing germline mutation(s) (loss of function) in Fanconi anemia
ORPHA:84 
- Disease-causing germline mutation(s) (loss of function) in Hereditary breast and ovarian cancer syndrome
ORPHA:145 - Disease-causing somatic mutation(s) in Cholangiocarcinoma
ORPHA:70567 - Major susceptibility factor in Familial pancreatic carcinoma
ORPHA:1333 - Major susceptibility factor in Familial prostate cancer
ORPHA:1331 - Major susceptibility factor in Hereditary breast cancer
ORPHA:227535 - Major susceptibility factor in Hereditary site-specific ovarian cancer syndrome
ORPHA:213524 - Major susceptibility factor in Primary peritoneal carcinoma
ORPHA:168829 - Biomarker tested in Selection of therapeutic option in ovarian cancer
ORPHA:618572
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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