Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.600 Biomarker disease BEFREE The frequency, if we consider exclusively the papillary carcinomas, is in both cases 12%; (b) show that the TRK oncogene plays a role in the development of a minority of radiation-associated papillary thyroid carcinomas but not in adenomas; and (c) confirm that RET/PTC rearrangements are the major genetic alteration associated with ionizing radiation-induced thyroid tumorigenesis. 10646882 2000
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.600 AlteredExpression disease BEFREE Proto-RET is rearranged in the new human papillary thyroid cancer cell line PTC-1113A. 8689603 1996
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.600 GeneticVariation disease BEFREE The purpose of this study is to describe a case of concurrent medullary and papillary thyroid carcinoma (MTC and PTC) and cutaneous melanoma and to analyze BRAF(V600E) mutation in plasma and tissues. 24858900 2014
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.600 Biomarker disease BEFREE AACE = American Association of Clinical Endocrinologists EFVPTC = encapsulated FVPTC FNA = fine-needle aspiration FVPTC = follicular variant of papillary thyroid carcinoma NIFTP = noninvasive follicular thyroid neoplasm with papillary-like nuclear features PTC = papillary thyroid carcinoma. 28920749 2017
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.600 GeneticVariation disease BEFREE RET/PTC rearrangements are believed to be tumor-initiating events in papillary thyroid carcinomas. 14555660 2003
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.600 GeneticVariation disease BEFREE We describe a case of papillary thyroid carcinoma with fibromatosis/fasciitis-like stroma (PTC-FLS) that contained the rare BRAF c.1799_1801delTGA (p.V600_K601delinsE) mutation, which has not previously been reported in this tumour, as well as the CTNNB1 c.133T>C (p.S45P) mutation. 31327063 2019
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.600 GeneticVariation disease BEFREE Because RET/PTC gene rearrangements are specific to papillary thyroid carcinoma, the authors examined the presence of RET/PTC-1, -2, and -3 in eight hyalinizing trabecular tumors using reverse transcription-polymerase chain reaction with Southern hybridization and immunohistochemistry. 11117782 2000
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.600 GeneticVariation disease BEFREE Preliminary results from our molecular oncology studies on adult-onset papillary thyroid cancer provide evidence for the induction of RET/PTC rearrangements and BRAF point mutation (both known to be early stage events in adult-onset papillary thyroid cancer) but with a difference: cases associated with the rearrangements were more frequent at high doses, and developed sooner than those with BRAF mutation. 18406659 2008
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.600 Biomarker disease BEFREE The aim of this study was to evaluate the clinicopathologic characteristics of the MFV-PTC treated in the Yonsei University College of Medicine.Between September 2007 and July 2012, 18,697 patients with PTC were treated in our institution. 29489673 2018
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.600 GeneticVariation disease BEFREE We report a FAP-associated CMVPTC tumor with atypically aggressive features harboring a RAS mutation and review the molecular mechanisms associated with this interesting PTC subtype. 24702198 2014
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.600 Biomarker disease BEFREE PTC-1, the predominant form of PTC oncogene in human papillary thyroid carcinoma, encodes a fusion protein containing the N-terminus of H4 (D10S170) fused 5' to the ret tyrosine kinase domain. 7753554 1995
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.600 GeneticVariation disease BEFREE Rearranged during transfection (RET)/papillary thyroid carcinoma (PTC) gene rearrangements are one of the major genetic alterations found in papillary thyroid carcinoma. 24957039 2014
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.600 GeneticVariation disease BEFREE We did a comprehensive screen for 548 known and putative fusion genes in 27 samples of thyroid tumors and three positive controls-one thyroid cancer cell line (TPC-1) and two PTCs with known CCDC6-RET (alias RET/PTC1) fusion gene, using this microarray. 22961909 2012
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.600 Biomarker disease BEFREE The RET/PTC gene rearrangement is highly specific for papillary thyroid carcinoma and is associated with the characteristic nuclear features seen in papillary thyroid carcinoma. 12383219 2002
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.600 GeneticVariation disease BEFREE H4(D10S170), a gene frequently rearranged in papillary thyroid carcinoma, is fused to the platelet-derived growth factor receptor beta gene in atypical chronic myeloid leukemia with t(5;10)(q33;q22). 11389034 2001
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.600 GeneticVariation disease BEFREE German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma [FTC]) and HC (n=302) were genotyped for polymorphisms within the vitamin D metabolizing enzymes such as 25-hydroxylase (CYP2R1[rs12794714, rs10741657]), 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1[rs10877012, rs4646536]), and 25-hydroxyvitamin D 24-hydrolase (CYP24A1[rs927650, rs2248137, rs2296241]). 22690899 2012
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.600 GeneticVariation disease BEFREE We have developed a home-brew tetracolor break-apart probe able to simultaneously identify the 2 most common genetic alterations in differentiated thyroid carcinoma: RET/PTC variants in papillary thyroid carcinoma and PAX8/PPARg fusion and variants in follicular thyroid carcinoma. 24510380 2014
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.600 GeneticVariation disease BEFREE Although ret/PTC rearrangements have been identified in both spontaneous and radiation-induced papillary thyroid cancer, they seem more frequent among radiation-associated tumors. 15126554 2004
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.600 GeneticVariation disease BEFREE ret/PTC rearrangements are present in 40% of papillary thyroid carcinomas and may play a role in metastatic behavior. 9889797 1999
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.600 Biomarker disease BEFREE Given that XB130 is a thyroid-specific tyrosine kinase substrate, we asked whether it is targeted by RET/PTC, a genetically rearranged, constitutively active, thyroid-specific tyrosine kinase that plays a pathogenic role in papillary thyroid cancer. 19060924 2009
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.600 Biomarker disease BEFREE We also observed similarities in the E-cadherin expression profiles of Hashimoto thyroiditis and ret/PTC-1-positive papillary thyroid carcinomas and have hypothesized that ret/PTC-1 activation might cause not only the structural and nuclear peculiarities of PTC but also an immune reaction to thyroid epithelium. 12605035 2003
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.600 Biomarker disease BEFREE RET is activated, as RET/PTC oncogene, by somatic rearrangements which link the TK domain to a constitutive dimerization interface in papillary thyroid carcinomas. 8570194 1995
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.600 GeneticVariation disease BEFREE Small papillary thyroid cancer (PTC) generally has an excellent prognosis. 27732329 2017
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.600 GeneticVariation disease BEFREE The list of putative biological and clinical factors that may influence the PTC gene expression profile is long, but there are sufficient data reported in the literature to link expression profiles with differing pathological variants of PTC. 21411301 2011
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.600 Biomarker disease BEFREE RET/PTC rearrangements arising from a small population of papillary thyroid carcinoma cells, possible candidate for passenger mutation. 19495791 2009