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: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
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: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 Biomarker disease BEFREE Analysis by a reverse transcriptase-polymerase chain reaction method showed that the ret rearrangement-positive tumor contained the PTC/retTPC chimeric transcript, which was reported to be found specifically in thyroid tumors and adenomatous goiter. 1381340 1992
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 GeneticVariation disease BEFREE Analysis of ret/PTC gene rearrangements refines the fine needle aspiration diagnosis of thyroid cancer. 11344225 2001
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
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: 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 GeneticVariation disease BEFREE Distinct multiple RET/PTC gene rearrangements in multifocal papillary thyroid neoplasia. 9814501 1998
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
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: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 Biomarker disease BEFREE Immunohistochemical technique is proved to be a useful tool to detect RFT/PTC activation in thyroid tumors. 15368067 2005
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
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: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 Biomarker disease BEFREE In fact, it has been demonstrated that: a) RET/PTC is an early event in the process of thyroid carcinogenesis and has a critical role in the generation of the papillary carcinoma; b) RET/PTC activation is essentially restricted to the papillary histotype and to the Hürthle thyroid tumors; c) its incidence increases after exposure to radiations. 17891236 2007
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 Biomarker disease BEFREE In the current study, the frequency of PTC/retTPC oncogene in thyroid tumors from Saudi Arabia was investigated. 8275421 1994
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
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: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
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: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
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: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 Biomarker disease BEFREE Present data suggest that: (1) the incidence of FAP-associated thyroid cancer probably has been underestimated in the past; (2) intensive screening could detect a larger than expected number of thyroid carcinomas; (3) systematic screening is recommended in patients with ocular patches and genetic mutation in exon 15; (4) Hashimoto-like findings do not exclude carcinoma but are a frequent accompanying finding; (5) despite frequent multicentricity and early lymph node involvement, FAP-associated thyroid tumors seem to have an excellent prognosis, in particular those showing ret-PTC activation. 9841749 1998
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 GeneticVariation disease BEFREE Prevalences of Gs alpha, ras, p53 mutations and ret/PTC rearrangement in differentiated thyroid tumours in a Korean population. 9861322 1998
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 Biomarker disease BEFREE RET/PTC rearrangement in thyroid tumors. 12114746 2002
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 Biomarker disease BEFREE Ret/PTC activation in benign and malignant thyroid tumors arising in a population exposed to low-dose external-beam irradiation in childhood. 15126554 2004
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
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: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 Biomarker disease BEFREE Several types of rearrangement known to occur in thyroid cancer, including RET/PTC, NTRK1 and BRAF/AKAP9, are more common in radiation-associated thyroid tumors and RET/PTC can be induced experimentally by exposing human thyroid cells to ionizing radiation. 19766698 2010
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 Biomarker disease BEFREE The authors investigated the prevalence of RET/PTC in a large number of thyroid tumors from Japanese patients. 16015630 2005
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 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 The relatively low prevalence of RET activation in PDCs argues against a major role for RET/PTC in the progression from well to poorly differentiated thyroid tumor phenotypes. 11788678 2002
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
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