TAS2R38, taste 2 receptor member 38, 5726

N. diseases: 149; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation disease BEFREE The identification of kinase fusions in thyroid carcinomas helps to expand our knowledge about the landscape of oncogenic alterations in PTC. 29046324 2018
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation disease BEFREE We evaluated the best tagging SNPs from our previous PTC study and additionally included SNPs in or near FOXE1 and NKX2-1 genes, known susceptibility loci for thyroid cancer. 27207655 2016
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation disease BEFREE BRAF(V600E) mutation analysis is superior to RAS point mutations and evaluation of RET/PTC rearrangements in the diagnosis of thyroid cancer, even in indeterminate lesions. 25333496 2015
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation disease BEFREE Thyroid cancer (TC) is frequently associated with BRAF or RAS oncogenic mutations and RET/PTC rearrangements, with aberrant RAF-MEK-ERK and/or PI3K pathway activation. 26265449 2015
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation disease BEFREE Twenty-four (27%) of 89 patients were diagnosed with thyroid cancer (50% papillary thyroid carcinoma [PTC], 50% follicular variant of papillary thyroid carcinoma [FVPTC]). 25627462 2015
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation disease BEFREE Of 265 TC, 34 (12.8%) harbored TERT promoter mutations, including 10/153 (6.5%) conventional papillary TC (CPTC), 8/57 (14.0%) follicular variant PTC, 9/30 (30%) tall cell variant PTC, 1/3 (30%) Hurthle cell thyroid cancer (HTC), 1/5 (20%) follicular TC, and 5/13 (38.5%) poorly differentiated TC. 26354077 2015
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 Biomarker disease BEFREE This study confirms the occurrence of synchronous MTC and PTC and is the first evidence of the co-existence of melanoma and distinct thyroid cancers of different origin. 24858900 2014
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 Biomarker disease BEFREE In addition, expression of Sin1 and activation of AKT kinase were analyzed in fresh-frozen tissue samples (normal/tumor), primary cell cultures (papillary thyroid carcinoma [PTC]), and an established thyroid cancer cell line (medullary thyroid carcinoma) by Western blotting. 25456951 2014
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
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: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 Biomarker disease BEFREE EGFR-H was detected in 39.5% of carcinomas (n = 32) from patients with papillary (PTC, 46.2%, n = 18), follicular (29.6%, n = 8), and anaplastic (100.0%, n = 6) but not medullary (0.0%, n = 9) thyroid carcinoma. 23746767 2013
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation disease BEFREE The results of this study allow us to conclude that low expression of MLH1 is associated with BRAF V600E mutations, RET/PTC rearrangements and transitions (IDH1 and NRAS) in patients with thyroid carcinoma. 23414134 2013
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation disease BEFREE RET/PTC is a characteristic genetic alteration frequently found in radiation-induced thyroid cancer in human populations. 22136268 2011
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
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: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 Biomarker disease BEFREE Even though RET/PTC is a specific genetic event in the carcinomas, our results suggested the possibility of RET/PTC as "passenger" abnormalities rather than "driver" oncogenic mutation during thyroid cancer progression, warranting further studies on mechanisms and implication of RET gene instability. 19495791 2009
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
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: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation disease BEFREE Thyroid carcinomas show a high prevalence of mutations in the oncogene BRAF which are inversely associated with RAS or RET/PTC oncogenic activation. 19878585 2009
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 Biomarker disease BEFREE 20 years of RET/PTC in thyroid cancer: clinico-pathological correlations. 17891236 2007
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 Biomarker disease BEFREE Oncogenic proteins such as Ret/PTC, Ras and BRAF can induce NF-kappaB activation making it an important change in thyroid cancer. 17891249 2007
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation disease BEFREE In this study, we use an 18 Mb region on 10q11.2-21 containing the RET gene and its recombination partners, the H4 and NCOA4 (ELE1) genes, as a model chromosomal region frequently involved in RET/PTC rearrangements in thyroid cancer. 16331264 2006
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 Biomarker disease BEFREE We analyzed the methylation pattern of 17 gene promoters in nine thyroid cancer cell lines and in 38 primary thyroid carcinomas (13 papillary thyroid carcinoma [PTC], 10 follicular thyroid carcinoma [FTC], 9 undifferentiated thyroid carcinoma [UTC], 6 medullary thyroid carcinoma [MTC]), 12 goiters, and 10 follicular adenomas (FA) by methylation- specific polymerase chain reaction (PCR). 16889486 2006
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation disease BEFREE RET/PTC fusion gene rearrangements in Japanese thyroid carcinomas. 15368067 2005
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation disease BEFREE These data identify a relationship between the methylation-associated silencing of the tumor-suppressor gene SLC5A8 and the T1796A point mutation of the BRAF gene in the PTC-cf. subtype of thyroid carcinomas. 15687339 2005
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 Biomarker disease BEFREE The expression of CD82 and CD63 was analysed by reverse transcriptase-PCR (RT-PCR) and immunohistochemistry in benign goiter (n=12) and 75 primary thyroid carcinoma tissue specimens (PTC: 33, FTC: 24, UTC: 18) out of which 36 were non-metastasized primary tumors and 39 were metastasized tumors (regional lymph node and/or distant metastases). 15375577 2004
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation disease BEFREE Ret/PTC rearrangements were identified in 42.9% of thyroid carcinoma and 46.2% of adenoma subjects. 15126554 2004
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 Biomarker disease BEFREE We have demonstrated that there is a high preponderance of ras and ret/PTC oncogenes in the evolution of thyroid cancer. 12240753 2002