Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma
0.100 GeneticVariation disease BEFREE Follicular thyroid carcinoma (FTC) frequently harbors the PAX8/PPARgamma fusion gene (PPFP); however, its oncogenic role and mechanism(s) of action remain undefined. 15077183 2004
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma
0.100 GeneticVariation disease BEFREE A proportion of FTC has been found to be associated with a chromosomal translocation, t (2, 3)(q13;p25), which fuses the thyroid-specific transcription factor paired box-8 with the peroxisome proliferator-activated receptor-gamma nuclear receptor, a ubiquitously expressed transcription factor. 16946003 2007
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma
0.100 GeneticVariation disease BEFREE A recent study of follicular thyroid carcinomas reported a novel chromosomal translocation, t(2;3)(q13;p25), that fused the thyroid-specific transcription factor PAX8 with a nuclear receptor, peroxisome proliferator-activated receptor gamma (PPAR gamma). 12519876 2003
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma
0.100 GeneticVariation disease BEFREE A subset of follicular thyroid carcinomas contains a balanced translocation, t(2;3)(q13;p25), that results in fusion of the paired box gene 8 (PAX8) and peroxisome proliferator-activated receptor gamma (PPARG) genes with concomitant expression of a PAX8-PPARgamma fusion protein, PPFP. 16609007 2006
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma
0.100 GeneticVariation disease BEFREE Approximately 35% of follicular thyroid carcinomas and a small fraction of follicular adenomas are associated with a t(2;3)(q13;p25) chromosomal translocation that fuses paired box gene 8 (PAX8) with the peroxisome proliferator-activated receptor-gamma gene (PPARG), resulting in expression of a PAX8-PPARgamma fusion protein, PPFP. 19797117 2009
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma
0.100 Biomarker disease BEFREE As PAX8/PPARG and RET/PTC rearrangements have been detected in follicular thyroid carcinomas (FTCs) and papillary thyroid carcinomas (PTCs), their detection in FNA smears could improve the FNA diagnosis. 23025542 2012
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma
0.100 AlteredExpression disease BEFREE Both FTC and FA, which did not harbor RAS, phosphoinositide-3-kinase, or PAX/peroxisome proliferator activated receptor-γ mutations, express various proteins in common and others that are more distinctly expressed in FTC rather than in FA or normal thyroid tissue. 21983636 2011
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma
0.100 GeneticVariation disease BEFREE Detection of either the PAX8-PPARG translocation or the 3p25 aneusomy in FTC indicates that these are independent genetic events. 19963130 2010
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma
0.100 GeneticVariation disease BEFREE In the present study, we aimed to investigate the clinicopathological aspects of a large series of follicular thyroid carcinomas (FTCs) in paediatric patients and to analyse the point mutations in codons 12, 13 and 61 of NRAS, HRAS and KRAS genes and the rearrangements of PAX8-PPARG. 28621837 2017
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma
0.100 Biomarker disease BEFREE In this study, we demonstrate for the first time the presence of PAX8-PPARγ in PDs and FTUMPs, whereas in FTCs and PTCs the prevalence of PAX8-PPARγ is lower than previously reported. 23738683 2013
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma
0.100 GeneticVariation disease BEFREE In this study, we examined PAX8-PPARγ rearrangement in 24 FTC samples from Japanese patients by reverse transcribed-polymerase chain reaction (RT-PCR) using two upstream PAX8 primers located in exons 7 and 8 and a downstream primer in exon 1 of PPARγ. 25708358 2015
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma
0.100 Biomarker disease BEFREE Later, a fusion of the genes PAX8 and PPARG resulting from this translocation was frequently observed in follicular carcinomas and considered as a marker of follicular thyroid cancer. 21763631 2011
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma
0.100 Biomarker disease BEFREE Mutations in RAS or PAX8/PPARG were exclusive to FTC and fvPTC. 29108474 2018
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma
0.100 AlteredExpression disease BEFREE Mutations were detected in 2/5 FTC (PAX8/PPARγ and NRAS) and 3/6 FVPTC cases (PAX8/PPARγ). 26649796 2016
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma
0.100 GeneticVariation disease BEFREE Non-overlapping genetic alterations, including BRAF and RAS point mutations, and RET/PTC and PAX8/PPARγ rearrangements, are found in more than 70% of papillary and follicular thyroid carcinomas. 21739166 2011
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma
0.100 GeneticVariation disease BEFREE Our experiments demonstrate the suppression of NORE1A, a known Ras effector, in PAX8-PPARgamma carrying FTCs. 16352687 2006
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma
0.100 Biomarker disease BEFREE Overall, among 20 PAX8/PPARγ-positive tumors that were surgically excised, 17 (85%) were PTC and 3 (15%) were FTC. 24798894 2014
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma
0.100 AlteredExpression disease BEFREE PAX8-PPARgamma fusion gene expression was found in 25% (six of 24) of follicular thyroid carcinomas (FTCs) and in 17% (six of 36) of follicular thyroid adenomas, but in none of the 10 normal tissues, 28 nodular hyperplasias, 38 papillary thyroid carcinomas (PTCs) and 11 poorly differentiated thyroid carcinomas (PDTCs). 15238980 2004
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma
0.100 Biomarker disease BEFREE PAX8/PPARG fusion was found in I-EFVPTCs and FTC. 31671409 2019
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma
0.100 GeneticVariation disease BEFREE RAS mutations and PAX8/PPARγ rearrangements in 56 FTAs and 35 FTCs were analyzed. 25999051 2015
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma
0.100 Biomarker disease BEFREE Recently, a translocation t(2; 3)(q13;p25), involving the fusion of PAX8 and peroxisome proliferator-activated receptor gamma (PPAR gamma) was suggested to arise only in follicular thyroid carcinomas. 12970322 2003
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma
0.100 GeneticVariation disease BEFREE Substantial improvement in the understanding of the oncogenic pathways in thyroid cancer has led to identification of specific molecular alterations, including mutations of BRAF and RET in papillary thyroid cancer, mutation of RAS and rearrangement of PPARG in follicular thyroid cancer, mutation of RET in medullary thyroid cancer, and mutations of TP53 and in the phosphatidylinositol 3'-kinase (PI3K)/AKT1 pathway in anaplastic thyroid cancer. 27618325 2017
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma
0.100 Biomarker disease BEFREE Surprisingly, several PPARgamma target genes were up-regulated in PAX8-PPARgamma-positive FTCs such as angiopoietin-like 4 and aquaporin 7. 15972966 2005
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma
0.100 GeneticVariation disease BEFREE The activating TSHR mutation could promote in vivo FTC development in PAX8-PPARgamma-positive thyrocytes under poor blood supply with deprivation of growth factors but restraint the tumor growth when growth factors are supplied. 20427420 2010
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma
0.100 GeneticVariation disease BEFREE The frequency of PAX8-PPARgamma rearrangement was similar in FVPTCs (37.5%), FTCs (45.5%), and FTAs (33.3%). 16219715 2006