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GENE - TERM ANNOTATION REPORT

RGD ID: 737039
Species: Homo sapiens
RGD Object: Gene
Symbol: CDKN2A
Name: cyclin dependent kinase inhibitor 2A
Acc ID: DOID:9005612
Term: Endometrial Intraepithelial Neoplasia
Definition: This is a premalignant neoplastic process that affects the endometrial epithelium and glands. It is a neoplastic clonal expansion of endometrial glands characterized by cytologic changes of the epithelium and the presence of an increased number of endometrial glands. The glands form crowded aggregates with tubular or branching patterns which are cytologically distinct from the background architectural and cytological pattern. It is associated with molecular changes seen in endometrioid endometrial carcinoma, including microsatellite instability, PAX2 inactivation, and PTEN, KRAS, and CTNNB1 gene mutation
Definition Source(s): EFO:1000235, NCI:C27789
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
CDKN2A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Atypical endometrial hyperplasiaPMID:12700603 PMID:15146471 PMID:19799798 PMID:21893440 PMID:22841127 PMID:28492532 PMID:9425228
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