Li-Fraumeni syndrome

GPTKB entity

Statements (31)
Predicate Object
gptkbp:instanceOf genetic disorder
hereditary cancer syndrome
gptkbp:affects adults
children
gptkbp:characteristic family history of cancer
multiple primary cancers
early onset of cancer
gptkbp:diagnosedBy genetic testing
gptkbp:firstDescribed gptkb:Frederick_P._Li
gptkb:Joseph_F._Fraumeni_Jr.
1969
https://www.w3.org/2000/01/rdf-schema#label Li-Fraumeni syndrome
gptkbp:ICD-10_code Q85.8
gptkbp:inheritance autosomal dominant
gptkbp:managedBy genetic counseling
cancer surveillance
risk-reducing surgery
gptkbp:MeSH_ID D018949
gptkbp:mutationAssociatedWith gptkb:TP53_gene
gptkbp:OMIM 151623
gptkbp:prevalence rare
gptkbp:riskFactor gptkb:cancer
gptkb:rhabdomyosarcoma
leukemia
adrenocortical carcinoma
osteosarcoma
brain tumors
gptkbp:synonym gptkb:LFS
gptkb:SBLA_syndrome
gptkbp:bfsParent gptkb:rhabdomyosarcoma
gptkbp:bfsLayer 5