Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
hereditary cancer syndrome |
| gptkbp:associatedWith |
early-onset cancers
|
| gptkbp:characteristic |
childhood cancers
family history of cancer multiple primary cancers |
| gptkbp:containsGene |
gptkb:TP53
CHEK2 (rarely) |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:eponymOf |
gptkb:Frederick_Li
gptkb:Joseph_Fraumeni |
| gptkbp:firstDescribed |
gptkb:Frederick_Li
gptkb:Joseph_Fraumeni 1969 |
| https://www.w3.org/2000/01/rdf-schema#label |
Li-Fraumeni Syndrome
|
| gptkbp:ICD-10_code |
Z15.0
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:inheritsFrom |
autosomal dominant manner
|
| gptkbp:managedBy |
cancer surveillance
risk-reducing surgery |
| gptkbp:mutationAssociatedWith |
gptkb:TP53_gene
|
| gptkbp:OMIM |
151623
|
| gptkbp:prevalence |
rare
|
| gptkbp:riskFactor |
gptkb:cancer
gptkb:rhabdomyosarcoma leukemia adrenocortical carcinoma brain tumors |
| gptkbp:synonym |
gptkb:LFS
gptkb:SBLA_syndrome |
| gptkbp:bfsParent |
gptkb:Intracranial_Tumors
|
| gptkbp:bfsLayer |
6
|