PAX8, paired box 8, 7849

N. diseases: 253; N. variants: 24
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 Biomarker disease BEFREE Our data provide evidence to suggest that the PAX8-GLIS3 fusion is pathognomonic for hyalinizing trabecular tumors, and that the presence of the PAX8-GLIS3 fusion in thyroid neoplasms may be used as an ancillary marker for the diagnosis of hyalinizing trabecular tumor, thereby avoiding overtreatment in case of misdiagnoses with apparently similar malignant tumors. 31273314 2019
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 Biomarker disease BEFREE BRAF-targeted paired box gene-8 (PAX8), a thyroid-specific transcription factor, generally dysregulated in BRAF-mutated thyroid cancer. 30760304 2019
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 Biomarker disease BEFREE Genomic binding of PAX8-PPARG fusion protein regulates cancer-related pathways and alters the immune landscape of thyroid cancer. 28008156 2017
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 AlteredExpression disease BEFREE We quantified TTF-1, FOXE1 and PAX8 mRNA levels, relating their expression to diagnostic and prognostic features of thyroid tumors. 26370671 2016
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 AlteredExpression disease BEFREE PAX8 is a thyroid-specific transcription factor whose expression is dysregulated in thyroid cancer. 27249794 2016
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 Biomarker disease BEFREE Some somatic oncogene mutations (BRAF, NRAS, HRAS, KRAS) as well as gene translocations (RET/PTC, PAX8/PPAR-gamma) have been associated with the development of thyroid cancer. 26259532 2016
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 Biomarker disease BEFREE The posttest probability of thyroid cancer was 100% for nodules positive for BRAF or RET-PTC, 70% for RAS or PAX8-PPARG, and 88% for molecular cytology overall. 24811481 2014
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 Biomarker disease BEFREE TSH receptor mRNA reverse transcription-polymerase chain reaction, the Veracyte and Asuragen commercial methods, and the noncommercial use of BRAF, RAS, RET/PTC, and PAX8/PPARγ testing have promising roles in the diagnosis and treatment of patients with nodular thyroid disease and thyroid cancer. 22984796 2013
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 GeneticVariation disease BEFREE FISH analysis using PPAR γ-specific probes for detection of PAX8-PPAR γ translocation in follicular thyroid neoplasms. 23100233 2013
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 GeneticVariation disease BEFREE In this review, we will summarize the histologic features of known recurrent genomic rearrangements in carcinomas, especially focusing on TMPRSS2-ERG fusion in prostate cancer, EML4-ALK in lung cancer, ETV6-NTRK3 in secretory breast cancer, RET/PTC and PAX8/PPARγ1 rearrangements in thyroid cancer. 23060067 2012
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 Biomarker disease BEFREE These results indicate that Pax-8 can promote iodide uptake, and specifically prolong the retention time of iodide in thyroid cancer in vitro and in vivo by promoting the expression of TPO and Tg proteins. 21833035 2012
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 Biomarker disease BEFREE The aim of the present study was to develop a method for the detection of chimeric PAX8-PPARG transcripts in formalin-fixed paraffin-embedded (FFPE) thyroid tumor samples by conventional RT-PCR. 22179975 2012
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 AlteredExpression disease BEFREE Compared to normal tissues, NIS and PAX8 mRNA levels were significantly reduced in all types of thyroid cancer. 22510021 2012
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 GeneticVariation disease BEFREE Common mutations found in thyroid cancer are point mutation of the BRAF and RAS genes as well as RET/PTC and PAX8/PPARγ chromosomal rearrangements. 21878896 2011
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 AlteredExpression disease BEFREE In adult, Pax8 overexpression is associated with kidney, ovarian and thyroid tumors and has emerged as a specific marker for these cancers. 21932072 2011
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 GeneticVariation disease BEFREE In this study, a group of 60 follicular thyroid neoplasms [18 FTC, 1 Hurthle cell carcinoma (HCC), 24 follicular thyroid adenomas (FTA), 5 Hurthle cell adenomas (HCA), and 12 follicular variants of papillary thyroid carcinomas (FV-PTC)] were analyzed to determine the prevalence of the PAX8-PPARG translocation by fluorescence in situ hybridization. 19963130 2010
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 Biomarker disease BEFREE Orthotopic implantation with the 8505c cells produced thyroid tumors after 5 weeks, showing large neck masses, with histopathologic features of a high-grade neoplasm (anaplasia, necrosis, high mitotic and proliferative indexes, p53 positivity, extrathyroidal invasion, lymph node and distant metastases) and immunoprofile of follicular thyroid cell origin with positivity for thyroid transcription factor-1 and PAX8, and for cytokeratins. 19772429 2009
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 GeneticVariation disease BEFREE The molecular pathology of thyroid cancer is now better understood because of our ability to identify RET/PTC rearrangements and BRAF mutations in the aetiopathogenesis of the large majority of PTCs and the high prevalence of RAS mutations and PAX8/PPARgamma rearrangements in follicular patterned carcinomas (FTCs and follicular variant of PTCs). 19147628 2009
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 GeneticVariation disease BEFREE As such, this article addresses the following aspects of intragenic mutations in thyroid cancer: thyroid stimulating hormone receptor and guanine-nucleotide-binding proteins of the stimulatory family mutations in hyperfunctioning tumors; mutations in RAS and other genes and aneuploidy; PAX8-PPARgamma rearrangements; BRAF mutations; mutations in oxidative phosphorylation and Krebs cycle genes in Hürthle cell tumors; mutations in succinate dehydrogenase genes in medullary carcinoma and C-cell hyperplasia; and mutations in TP53 and other genes in poorly differentiated and anaplastic carcinomas. 18502330 2008
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 Biomarker disease LHGDN The Ras effector NORE1A is suppressed in follicular thyroid carcinomas with a PAX8-PPARgamma fusion. 16352687 2006
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 GeneticVariation disease LHGDN PAX8-PPARgamma rearrangement is frequently detected in the follicular variant of papillary thyroid carcinoma. 16219715 2006
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 GeneticVariation disease BEFREE Our findings suggest that the close surrounding of PPAR(gamma) is a breakpoint hot spot region, leading to recurrent alterations of this gene in thyroid tumors of follicular origin including carcinomas as well as adenomas with or without involvement of PAX8. 17123335 2006
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 GeneticVariation disease BEFREE Follicular thyroid tumors with the PAX8-PPARgamma1 rearrangement display characteristic genetic alterations. 15972966 2005
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 Biomarker disease LHGDN These finding demonstrate that induction of Pax8 expression may determine a re-differentiation of thyroid cancer cells, including a partial recovery of iodide uptake, fundamental requisite for a radioiodine-based therapeutic approach for thyroid tumours. 16029487 2005
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 GeneticVariation disease BEFREE The demonstration of the PAX8-PPAR(gamma) fusion oncogene in a subset of follicular thyroid tumors provides a new and promising starting point to dissect the molecular genetic events involved in the development of this tumor form. 15608688 2005