Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
gptkb:BRCA1_gene
|
| gptkbp:associatedWith |
increased risk of breast cancer
increased risk of ovarian cancer |
| gptkbp:canBeManagedBy |
chemoprevention
increased surveillance risk-reducing mastectomy risk-reducing salpingo-oophorectomy |
| gptkbp:cause |
gptkb:hereditary_breast_and_ovarian_cancer_syndrome
|
| gptkbp:detects |
genetic testing
|
| gptkbp:discoveredBy |
gptkb:Mary-Claire_King
|
| gptkbp:firstDescribed |
1994
|
| https://www.w3.org/2000/01/rdf-schema#label |
BRCA1 mutation
|
| gptkbp:impact |
DNA repair by homologous recombination
|
| gptkbp:inheritsFrom |
autosomal dominant
|
| gptkbp:isPathogenicVariantOf |
gptkb:BRCA1_gene
|
| gptkbp:locatedOnChromosome |
gptkb:17q21
|
| gptkbp:prevalence |
gptkb:Ashkenazi_Jewish_population
|
| gptkbp:riskFactor |
pancreatic cancer
prostate cancer |
| gptkbp:treatment |
PARP inhibitors
|
| gptkbp:bfsParent |
gptkb:serous_carcinoma
|
| gptkbp:bfsLayer |
5
|