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gptkbp:instance_of
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gptkb:Genetics
|
|
gptkbp:associated_syndrome
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gptkb:Hereditary_Breast_and_Ovarian_Cancer_syndrome
|
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gptkbp:associated_with
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gptkb:disease
gptkb:rhabdomyosarcoma
gptkb:chronic_myeloid_leukemia
gptkb:myelodysplastic_syndromes
gptkb:adrenal_cancer
gptkb:Oncology
gptkb:fibrosarcoma
gptkb:Chondrichthyes
gptkb:Kaposi's_sarcoma
gptkb:non-Hodgkin_lymphoma
gptkb:pancreatic_cancer
gptkb:Ewing's_sarcoma
gptkb:Wilms_tumor
gptkb:neuroblastoma
gptkb:angiosarcoma
ovarian cancer
endometrial cancer
liver cancer
thrombocytopenia
stomach cancer
esophageal cancer
osteosarcoma
bladder cancer
head and neck cancer
neuroendocrine tumors
aplastic anemia
germ cell tumors
fallopian tube cancer
male breast cancer
peritoneal cancer
hemophagocytic lymphohistiocytosis
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gptkbp:clinical_trial
|
ongoing studies
pathogenic
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gptkbp:clinical_use
|
increased surveillance
preventive surgery
chemoprevention
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gptkbp:discovered_by
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gptkb:BRCA1_gene
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gptkbp:effect_on_protein
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disrupts protein function
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gptkbp:first_described_by
|
gptkb:1996
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gptkbp:genetic_studies
|
loss of function
frameshift mutation
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|
https://www.w3.org/2000/01/rdf-schema#label
|
BRCA1 5382ins C
|
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gptkbp:impact
|
increased cancer risk
|
|
gptkbp:inherits_from
|
autosomal dominant
|
|
gptkbp:is_a_guide_for
|
NCCN guidelines
|
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gptkbp:is_found_in
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gptkb:Ashkenazi_Jewish_population
tumor samples
non-Ashkenazi populations
|
|
gptkbp:is_recognized_by
|
DNA sequencing
|
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gptkbp:is_tested_for
|
genetic testing
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|
gptkbp:location
|
chromosome 17
|
|
gptkbp:prevalence
|
higher in certain populations
|
|
gptkbp:promoter
|
gptkb:BRCA1
|
|
gptkbp:research_focus
|
cancer genetics
|
|
gptkbp:risk_factor
|
family history of cancer
|
|
gptkbp:risk_management
|
genetic counseling
|
|
gptkbp:screenings
|
BRCA testing for at-risk individuals
|
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gptkbp:therapeutic_implication
|
PARP inhibitors
|
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gptkbp:type_of
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insertion mutation
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gptkbp:bfsParent
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gptkb:BRCA1
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gptkbp:bfsLayer
|
6
|