Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
gptkb:TP53_gene
|
| gptkbp:associatedWith |
gptkb:cancer
gptkb:Li-Fraumeni_syndrome gptkb:glioblastoma colorectal cancer osteosarcoma |
| gptkbp:cause |
uncontrolled cell proliferation
genomic instability loss of tumor suppressor activity |
| gptkbp:detects |
DNA sequencing
immunohistochemistry |
| gptkbp:firstDescribed |
1979
|
| gptkbp:frequency |
common in human cancers
|
| https://www.w3.org/2000/01/rdf-schema#label |
TP53 mutation
|
| gptkbp:impact |
p53 protein function
|
| gptkbp:inheritance |
germline
somatic |
| gptkbp:namedAfter |
gptkb:TP53_gene
|
| gptkbp:type |
missense mutation
nonsense mutation frameshift mutation splice site mutation |
| gptkbp:bfsParent |
gptkb:Anaplastic_thyroid_cancer
gptkb:anaplastic_thyroid_cancer gptkb:serous_carcinoma gptkb:glioblastoma |
| gptkbp:bfsLayer |
5
|