Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.400 AlteredExpression disease BEFREE Novel TG-FGFR1 and TRIM33-NTRK1 transcript fusions in papillary thyroid carcinoma. 30664823 2019
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.400 Biomarker disease BEFREE Among enrolled patients harbouring TRK fusion-positive cancers, eight (47%) had infantile fibrosarcoma, seven (41%) had other soft tissue sarcomas, and two (12%) had papillary thyroid cancer. 29606586 2018
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.400 Biomarker disease BEFREE We exploited the MassARRAY (MA) genotyping platform to develop the "PTC-MA assay", which allows the simultaneous detection of 13 hotspot mutations, in the BRAF, KRAS, NRAS, HRAS, TERT, AKT1, PIK3CA, and EIF1AX genes, and six recurrent genetic rearrangements, involving the RET and TRK genes in papillary thyroid cancer (PTC). 29214440 2018
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.400 GeneticVariation disease BEFREE Seven of 27 PTCs (26%) had neurotrophic tyrosine kinase receptor (NTRK) fusion oncogenes (NTRK type 3/ets variant 6 [NTRK3/ETV6], n =5; NTRK3/unknown, n = 1; and NTRK type 1/translocated promoter region, nuclear basket protein [NTRK1/TPR], n = 1), including 5 tumors that measured >2 cm and 3 that diffusely involved the entire thyroid or lobe. 26784937 2016
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.400 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
0.400 GeneticVariation disease BEFREE PTC, the most frequent thyroid carcinoma histotype, is associated with gene rearrangements that generate RET/PTC and TRK oncogenes and with BRAF-V600E and RAS gene mutations. 23132790 2013
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.400 GeneticVariation disease BEFREE PTC is associated with gene rearrangements generating RET/PTC and TRK oncogenes, and to the BRAFV600E activating point mutation. 21339735 2011
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.400 FusionGene disease ORPHANET Rearrangements of NTRK1 gene in papillary thyroid carcinoma. 19883730 2010
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.400 GeneticVariation disease BEFREE Activating mutations of the oncogene BRAF or rearrangements of the tyrosine kinase receptor RET are observed in up to 80% of papillary thyroid carcinomas (PTCs). 20652698 2010
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.400 GeneticVariation disease BEFREE These structural changes lead to the formation of fusion genes RET-PTC, TRK(-T), and BRAF-AKAP9, which originate as a result of intrachromosomal or interchromosomal rearrangements and are found in papillary thyroid carcinoma. 20951315 2010
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.400 GeneticVariation disease BEFREE Rearrangements of NTRK1 gene in papillary thyroid carcinoma. 19883730 2010
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.400 Biomarker disease BEFREE Eight PTCs expressed two different mutations (1 RET/PTC + BRAF, 6 NTRK1 + BRAF, 1 RET/PTC + NTRK1). 20640859 2010
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.400 GeneticVariation disease BEFREE The former group did not differ from the wild-type group in terms of MTC size, prevalence of C-cell hyperplasia (CCH) or papillary thyroid carcinoma (PTC). 18331611 2008
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.400 Biomarker disease BEFREE Moreover, several gene products with unknown functions were demonstrated in PTCs bearing RET or NTRK1 hybrids versus rearrangement-negative PTCs, including a homologue of the Ig kappa light chain constant region. 16256137 2006
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.400 GeneticVariation disease BEFREE Our study is the first one in which the frequency of NTRK1 rearrangements in PTC was reported for the Polish population. 16483615 2006
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.400 GeneticVariation disease BEFREE In papillary thyroid carcinoma (PTC), genetic events involve RET and TRK (rearrangements) and BRAF and RAS (mutations), although RAS mutations are uncommon except in the follicular variant of PTC. 17131411 2006
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.400 Biomarker disease BEFREE Somatic rearrangement of the tyrosine kinase receptor RET is restricted to papillary thyroid carcinoma (PTC). 15876154 2005
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.400 GeneticVariation disease BEFREE Papillary thyroid carcinomas are marked by a high frequency of chromosome rearrangements involving the RET and NTRK1 tyrosine kinase receptor genes and producing RET and TRK oncogenes. 15805251 2005
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.400 GeneticVariation disease BEFREE These results, together with data from our previous studies on RAS, RET rearrangements and NTRK1 rearrangements in the same tumours, were compared to determine their individual significance in the pathogenesis of PTCs in Taiwan. 16181240 2005
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.400 AlteredExpression disease BEFREE Alternative mutations of BRAF, RET and NTRK1 are associated with similar but distinct gene expression patterns in papillary thyroid cancer. 15273715 2004
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.400 GeneticVariation disease BEFREE Thyroid papillary cancers (PTCs) are associated with activating mutations of genes coding for RET or TRK tyrosine kinase receptors, as well as of RAS genes. 12670889 2003
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.400 Biomarker disease BEFREE Somatic rearrangements of RET and TRK are almost exclusively found in PTC and may be found in early stages. 11165748 2001
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.400 Biomarker disease BEFREE Our results concerning the radiation-associated tumours showed that only rearrangements between NTRK1 and TPM3 genes (TRK oncogene) were detected in 2/14 papillary carcinomas and in one lymph-node metastasis of one of these papillary thyroid carcinomas. 10646882 2000
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.400 Biomarker disease BEFREE A high prevalence of RET gene rearrangements (62.3%) with a significant predominance of ELE1/RET (PTC3) over H4/RET (PTC1) rearrangements was found in PTCs of the first post-Chernobyl decade.NTRK1 rearrangements were rare (3.3%). 10741739 2000
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.400 GeneticVariation disease BEFREE The high incidence of yet uncharacterized NTRK1 hybrid mRNAs in our patient cohort leads to the speculation that activating chromosomal rearrangements of several tyrosine kinase receptors may be a common feature of PTCs and that the expression of distinct chimeras may potentially be of prognostic significance. 11114633 2000