Annotation Detail

Information
Associated Genes
TP53
Associated Variants
TP53 MUTATION
TP53 MUTATION
Associated Disease
Carcinoma, Endometrioid
Source Database
DisGeNET
Description
ECCCs had SCA-like features with rare expression of estrogen receptor/progesterone receptor (18.8%/6.3%) and no K-RAS mutations, intermediate features regarding expressions of p53 (37.5%) and p16 (25%), and endometrioid adenocarcinoma-like features regarding losses of PTEN (81.3%), ARID1A (25%) and mismatch-repair protein (68.8%), expression of microsatellite instability-high (25%), HER2/neu (12.5%), and PIK3CA mutations (18.8%).
Pubmed
25473756
Section of the abstract supporting the evidence
ALL_TEXT_3/3
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
7
Original source reporting the Gene Disease association
BeFree,GAD,LHGDN
DisGENET score for the Gene Disease association
0.0147113998757187
Drugs