Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.600 GeneticVariation BEFREE Concomitant loss of PTEN expression and PIK3CA mutation was found in four cases of endometrial cancer. 18221484

2009

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.600 GeneticVariation BEFREE Pilot investigation of the mutation profile of PIK3CA/PTEN genes (PI3K pathway) in grade 3 endometrial cancer. 30569174

2019

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.600 GeneticVariation BEFREE Adding PTEN/TP53 mutation testing to BHLHE22/CDO1-based methylation testing did not improve the detection of endometrial cancer. 31779688

2019

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.600 GeneticVariation BEFREE Although these data do not preclude the possibility of an increased risk of endometrial cancer in association with the Cowden syndrome, they indicate that germline PTEN mutations do not account for a significant proportion of genetic attributable risk for endometrial carcinoma. 15589575

2005

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.600 GeneticVariation BEFREE Sequencing analysis of entire coding region of PTEN/MMAC1 gene revealed mutations in three of six endometrial cancer cell lines (50%) and 17 of 44 endometrial cancer tissues (39%). 10657903

2000

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.600 GeneticVariation BEFREE In this study, we analyzed mutations in 11 cancer-related genes with mononucleotide repeats susceptible to MSI in a coding region [hMSH3 (A8), hMSH6 (C8), TGF-beta RII (A10), MBD4 (A10), BAX (G8), PTEN (A6 in exon 7), HDAC2 (A9), EPHB2 (A9), Caspase-5 (A10), TCF-4 (A9) and Axin2 (G7)] in 22 patients with MSI-H sporadic endometrial cancer. 19787250

2009

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.600 GeneticVariation 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

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.600 GeneticVariation BEFREE Prolactin-PRLR signaling may play a crucial role for the progression of type I EC without involving the PTEN mutation in young hyperprolactinemic women without insulin resistance. 29901521

2019

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.600 GeneticVariation 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

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.600 GeneticVariation 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. 15016316

2004

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.600 GeneticVariation BEFREE Alterations in the PI3K pathway are prevalent in endometrial cancer due to PIK3CA mutation and loss of PTEN. 24561032

2014

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.600 GeneticVariation BEFREE Anticorresponding mutations of the KRAS and PTEN genes in human endometrial cancer. 10767369

2000

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.600 GeneticVariation BEFREE We identified a high frequency of mutations in PTEN (50%) and genes involved in the endometrial cancer-related molecular pathway, which involves the IL-7 signaling pathway (PIK3R1, n=1; AKT2, n=1; FOXO1, n=1). 26626801

2016

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.600 GeneticVariation BEFREE 13 EC cell lines were profiled for their PI3K pathway and KRAS mutational and PTEN protein status and treated with one MEK- and two PI3K- targeted inhibitors alone and in combination. 29426295

2018

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.600 GeneticVariation BEFREE Activating mutations in FGFR2 have been identified as potential therapeutic targets in endometrial cancer, typically occurring alongside genetic alterations that disrupt the mTOR pathway, such as PTEN loss. 23468082

2013

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.600 GeneticVariation BEFREE Twelve cell lines, six melanoma and six endometrial cancer, were analyzed; 4 (67%) of the 6 melanomas had gene mutations in the RAS/MAPK cascade, and a decrease or loss of PTEN expression was also observed. 16273242

2005

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.600 GeneticVariation BEFREE Normal-appearing PTEN mutated endometrial glands, which are highly prevalent in the normal population, may be targets of endometrial cancer risk-modulating exposures. 19280590

2009

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.600 GeneticVariation BEFREE Endometrial cancer and genetic variation in PTEN, PIK3CA, AKT1, MLH1, and MSH2 within a population-based case-control study. 21093899

2011

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.600 GeneticVariation BEFREE Germline mutations in PTEN cause Cowden syndrome (CS), which increases lifetime risk of endometrial cancer. 26026735

2015

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.600 GeneticVariation BEFREE Concomitant activation of AKT with extracellular-regulated kinase 1/2 occurs independently of PTEN or PIK3CA mutations in endometrial cancer and may be associated with favorable prognosiss. 17924977

2007

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.600 GeneticVariation BEFREE This suggests that differences in the frequency of PTEN mutations contribute to the racial disparity in endometrial cancer survival. 10955777

2000

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.600 GeneticVariation BEFREE PTEN mutation positive CS have been shown to be at increased risk of breast, thyroid, and endometrial cancer. 14518069

2003

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.600 GeneticVariation BEFREE Piwil1 causes epigenetic alteration of PTEN gene via upregulation of DNA methyltransferase in type I endometrial cancer. 26056945

2015

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.600 GeneticVariation BEFREE PTEN loss in EH was significantly associated with increased risk of EC (OR = 3.32, p = 0.001). 30915635

2019

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.600 GeneticVariation BEFREE Durable partial response was observed in a patient with endometrial cancer harboring PIK3R1 and PTEN truncating mutations, and 13 additional patients (28%) had a decrease in their target lesions by up to 30%.<b>Conclusions:</b> LY3023414 has a tolerable safety profile and single-agent activity in patients with advanced cancers. 29636360

2018