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: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.500 GenomicAlterations disease CGI
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.500 CausalMutation disease CGI
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.500 Biomarker disease HPO
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.500 AlteredExpression disease BEFREE 1alpha,25-Dihydroxyvitamin D3 targets PTEN-dependent fibronectin expression to restore thyroid cancer cell adhesiveness. 15890670 2005
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.500 GeneticVariation disease BEFREE PTEN mutations have been implicated in the development of a variety of human neoplasia, including high-grade glioblastoma, prostate, breast, endometrial, and thyroid carcinoma. 10910075 2000
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.500 Biomarker disease BEFREE PTEN, a dual-phosphatase tumor suppressor, is inactivated in Cowden syndrome (CS), characterized by high risk of breast and thyroid cancer, and in variety of sporadic cancers. 16436456 2006
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.500 PosttranslationalModification disease BEFREE PTEN promoter methylation in sporadic thyroid carcinomas. 16487009 2006
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.500 Biomarker disease BEFREE PTEN knockdown in thyroid cancer cell lines stabilized intracellular NIS protein by promoting an interaction with NIS-LARG (leukemia-associated RhoA guanine exchange factor). 30217930 2018
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.500 GeneticVariation disease BEFREE A total of 32 of 225 PTEN mutation+ patients (14%) had thyroid cancer: 52% papillary, 28% follicular-variant papillary, 14% follicular, and 6% anaplastic. 23158187 2012
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.500 Biomarker disease BEFREE After co-culture with TC cell lines, TC-induced macrophages showed significantly increased production of cytokines in both patients and controls, especially after co-culture with a PTEN-deficient TC cell line; these effects were abolished after use of rapamycin or a lactate transport blocker. 30670777 2019
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.500 Biomarker disease BEFREE At the present time, no study has been undertaken to consider thyroid cancer treatment via FOXOs and PTEN targeting. 26597586 2016
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.500 AlteredExpression disease BEFREE Because in most of the thyroid carcinomas, DeltaNp73alpha is upregulated, whereas PTEN expression down regulated, we investigated whether DeltaNp73alpha may influence PTEN expression in this cell model. 19173293 2009
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.500 GeneticVariation disease BEFREE Children presenting with thyroid cancer should be tested for PTEN mutations. 21956414 2011
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.500 GeneticVariation disease BEFREE Germline PTEN mutations cause 85% of Cowden syndrome (CS), characterized by a high risk of breast and thyroid cancers, and 65% of Bannayan-Riley-Ruvalcaba syndrome (BRRS), characterized by lipomatosis, hemangiomas and speckled penis. 17405772 2007
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.500 GeneticVariation disease BEFREE Germline phosphatase and tensin homolog (PTEN) mutations cause Cowden syndrome (CS), associated with breast and thyroid cancers. 20600018 2010
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.500 GeneticVariation disease BEFREE Germline mutations in PTEN, encoding a dual-specificity phosphatase on 10q23.3, cause Cowden syndrome (CS), which is characterized by a high risk of breast and thyroid cancers. 10514407 1999
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.500 GeneticVariation disease BEFREE Germline mutations in PTEN cause Cowden syndrome (CS), which is characterized by multiple hamartomas and a high risk of breast and thyroid cancers. 11021816 2000
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.500 GeneticVariation disease BEFREE Germline mutations in the PTEN gene, which cause Cowden syndrome, are known to be one of the genetic factors for primary thyroid and breast cancers; however, PTEN mutations are found in only a small subset of research participants with non-syndrome breast and thyroid cancers. 26699384 2016
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.500 GeneticVariation disease BEFREE Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. 9140396 1997
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.500 GeneticVariation disease BEFREE Germline variants in SDHB/C/D (SDHx) genes account for subsets of CS/CS-like cases, conferring a higher risk of breast and thyroid cancers over those with only germline PTEN mutations. 25694510 2015
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.500 Biomarker disease BEFREE HMGB1-Induced Cross Talk between PTEN and miRs 221/222 in Thyroid Cancer. 26106610 2015
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.500 AlteredExpression disease BEFREE In conclusion, our data define a novel mechanism of PI3K/AKT hyperactivation and outline a regulatory role for miR-146b in suppressing PTEN expression, a frequent observation in thyroid cancer. 29353884 2018
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.500 GeneticVariation disease BEFREE In this study, we confirm that PTEN mutations in sporadic thyroid cancer are infrequent as we found one point mutation and one heterozygous deletion of PTEN gene in 26 tumors and eight cell lines screened. 10918569 2000
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.500 Biomarker disease BEFREE Interestingly, KLLN-associated risk of thyroid cancer appears to be gender and PTEN status dependent. 25669429 2015
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.500 GeneticVariation disease BEFREE Moreover, germline mutation of PTEN leads to the development of the related hereditary cancer predisposition syndromes, Cowden disease, and Bannayan-Zonana syndrome, wherein breast and thyroid cancer incidence is elevated. 15254063 2004