PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.800 Biomarker disease BEFREE The tumor suppressor gene TP53 is mutated exclusively with the HYDIN, KRAS, and PTEN genes in large intestine, lung, and endometrial cancers respectively, indicating that TP53 takes part in different signaling pathways in different cancers. 26212640 2015
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.800 AlteredExpression disease BEFREE This study evaluates PTEN immunohistochemical (IHC) expression in tamoxifen-associated endometrial cancers. 12530022 2003
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.800 Biomarker disease BEFREE For example, PTEN/AKT pathway and its downstream targets and the mTOR (mammalian target of rapamycin) pathway have been shown to play an important role in endometrial cancer pathogenesis. 21495229 2010
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.800 Biomarker disease BEFREE PTEN immunohistochemical loss, a common event in endometrioid-type endometrial carcinoma and associated with local immune suppression in melanoma, was not associated with PD-L1 expression or lymphocyte/macrophage infiltration of the tumor. 30291344 2019
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.800 GeneticVariation disease BEFREE A tissue microarray was constructed from paraffin wax-embedded blocks from 95 endometrial carcinomas (EC), previously studied for microsatellite instability, as well as for alterations in PTEN, k-RAS and beta-catenin. 15481028 2004
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.800 AlteredExpression disease BEFREE To test the hypothesis that insulin signalling plays a key role in the development of EC in women with PCOS by measuring and comparing the expression of three key genes involved in the insulin signalling pathway (IGF1, PTEN and IGFBP1) in endometrial tissue obtained from three groups of women; PCOS without EC, women with EC without PCOS and non-PCOS women without EC (controls). 26802879 2016
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.800 GeneticVariation disease BEFREE Two series of endometrial cancer and precancer (endometrial intraepithelial neoplasia, as diagnosed by computerized morphometric analysis) tissue samples were studied, one for PTEN mutations by the use of denaturing gradient gel electrophoresis and another for PTEN protein expression by immunohistochemistry. 10841828 2000
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.800 GeneticVariation disease BEFREE We hypothesized that in PTEN-mutated endometrial cancers, hyperactive Akt signaling downregulates progesterone receptor B (PRB) transcriptional activity, leading to overall impaired progestin responses. 26996671 2016
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.800 GeneticVariation disease BEFREE Mutational analysis of the PTEN gene in endometrial carcinoma and hyperplasia. 11190805 2001
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.800 Biomarker disease GENOMICS_ENGLAND Multiple hamartoma syndrome (Cowden's disease). 4635800 1972
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.800 Biomarker disease BEFREE Proliferation, transwell and apoptosis assay suggested that MDH2 enhanced the proliferation, migration and invasion but inhibited the apoptosis of endometrial cancer cell line through suppressing PTEN. 28189066 2017
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.800 GeneticVariation disease BEFREE PTEN, a tumor suppressor commonly mutated (50%) in endometrial carcinoma, is found mutated in endometrioid carcinoma of the ovary, but not in other forms of ovarian cancer. 11949955 2002
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.800 Biomarker disease BEFREE We also studied cell blocks obtained from one PTEN-defective endometrial cancer cell line, after transfection with either a plasmid encoding wild-type PTEN or the empty vector. 15578076 2005
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.800 GeneticVariation disease BEFREE Archival paraffin embedded tumour from women with endometrial cancer enrolled in NCIC CTG studies: EN5 (stage I/II) and IND 126, 148 and 160 (advanced/recurrent disease) were examined for MSI using BAT25/26 and for PTEN expression using immunohistochemistry. 20304627 2010
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.800 GeneticVariation disease BEFREE Pilot investigation of the mutation profile of PIK3CA/PTEN genes (PI3K pathway) in grade 3 endometrial cancer. 30569174 2019
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.800 Biomarker disease BEFREE However, not all mediators of PTEN signaling pathways have been clarified, and, during efforts to identify such molecules, we previously induced expression of the DUSP1 and BTG1 genes by introducing exogenous PTEN into endometrial cancer cell lines. 11310585 2001
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.800 PosttranslationalModification disease BEFREE In conclusion, we find that PTEN promoter methylation is relatively frequent in endometrial carcinoma. 11149415 2001
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.800 GeneticVariation disease BEFREE Sprouty 2 immunohistochemical expression was assessed using 3 different tissue microarrays: one constructed from paraffin blocks of 80 samples of normal endometrium and 2 tissue microarrays containing samples of 157 endometrial carcinoma (1 tissue microarray constructed with 95 endometrial carcinomas previously studied for microsatellite instability and alterations in phosphatase and tensin homolog (PTEN), k-ras, and b-catenin, and 1 tissue microarray containing 62 endometrial carcinoma, which were also subjected to sprouty 2 promoter methylation analysis). 21111454 2011
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.800 AlteredExpression disease BEFREE miR-200a and miR-200b can promote the endometrial cancer cell growth in vitro by targeted inhibition of PTEN gene expression. 28647188 2017
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.800 Biomarker disease BEFREE Studies in cell cultures have demonstrated that histone deacetylase inhibitors exert their antineoplastic activity by promoting expression of p21WAF1 and p27KIP1, cyclin-dependent kinase inhibitors, that have important roles in cell cycle regulation; importantly, the transcription of specific genes (e.g., E-cadherin, PTEN) that are commonly silenced in endometrial cancer is also enhanced. 29509243 2018
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.800 Biomarker disease BEFREE Relevant to screening endometrial cancers for Lynch Syndrome, an initial PTEN immunohistochemistry determination may be able to replace the use of four mismatch repair immunohistochemical markers in 63% of patients with non-endometrioid endometrial carcinoma. 23599155 2013
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.800 GeneticVariation disease BEFREE Three different human endometrial cancer cell lines known to have wild-type PTEN (HEC 1-A) or a mutated inactive PTEN protein (RL 95-2 and Ishikawa) were used for these studies. 15067356 2004
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.800 GeneticVariation disease BEFREE While most were previously reported in CRC, one mutation in PTEN was reported only in malignant endometrium cancer. 25617745 2015
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.800 GeneticVariation disease BEFREE These data also suggest that location of intragenic PTEN mutations and their coexistence with the CMYC amplification may play a crucial part in the development of various subtypes of endometrial carcinoma, but this preliminary suggestion requires further research. 14663583 2004
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.800 Biomarker disease BEFREE miR-200a, miR-200b and miR-429 are onco-miRs that target the PTEN gene in endometrioid endometrial carcinoma. 25750291 2015