RET, ret proto-oncogene, 5979

N. diseases: 607; N. variants: 162
Source: ALL
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 GeneticVariation disease BEFREE However, both RET/PTC1<sup>TG</sup>;Patz1<sup>+/-</sup> and RET/PTC1<sup>TG</sup>;Patz1<sup>-/-</sup> mice developed a more aggressive thyroid cancer phenotype-characterized by higher Ki-67 expression, presence of ATCs, and increased incidence of solid variants of PTC-than that shown by RET/PTC1<sup>TG</sup>; Patz1<sup>+/+</sup> compound mice. 29584698 2018
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.600 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
0.600 GeneticVariation disease BEFREE Further investigation is necessary to confirm a potential pathogenetic role of exon 13 and 14 RET mutations with regard to the development of PTC. 12193298 2002
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.600 GeneticVariation disease BEFREE Gain-of-function mutations in the RET proto-oncogene resulting in a constitutively active receptor tyrosine kinase have been identified as responsible for three subtypes of multiple endocrine neoplasia type 2 (MEN-2) and the development of sporadic medullary and papillary thyroid carcinoma. 12869215 2003
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 GeneticVariation disease BEFREE Our data provide limited evidence that TSHR- and RET-related genes are related to papillary thyroid cancer risk. 17220349 2007
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.600 GeneticVariation disease BEFREE CONCLUSIONS Expression of the BRAF V600E mutation and RET/PTC translocation promoted the activity of NF-κB, expression of inflammatory mediators, and lymph node metastases in patients with PTC. 30254191 2018
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.600 GeneticVariation disease BEFREE Previous reports, from our and other laboratories, showed that post-Chernobyl papillary thyroid carcinomas are characterized by a high frequency (about 60%) of RET oncogenic rearrangements (Fugazzola et al., 1995; Klugbauer et al., 1995; Ito et al., 1994). 8806699 1996
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.600 GeneticVariation disease BEFREE Several clones were isolated in which PDGFbetaR fused in frame to H4/D10S170, a previously described ubiquitously expressed gene that is fused to the ret protein tyrosine kinase to form the PTC-1 oncogene in approximately 20% of papillary thyroid carcinomas. 10910073 2000
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 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
0.600 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 More than 90% of PTC with RET rearrangement exhibit a PTC1 or PTC3 type of rearrangement with an inversion of the H4 or ELE1 gene, respectively, on chromosome 10. 11318605 2001
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.600 GeneticVariation disease BEFREE Mutation of RET leads to the constitutive signal activation causing papillary thyroid carcinoma and multiple endocrine neoplasia type 2 (MEN2). 17555548 2007
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.600 GeneticVariation disease BEFREE Thyroid tissue blocks from 42 consecutive pediatric WDTC patients who underwent thyroidectomy between 2001 and 2013 were analyzed at Quest Diagnostics for BRAF(V600E), RAS mutations (N,K,H), and RET/PTC and PAX8/PPARγ rearrangements, using validated molecular methods. 26649796 2016
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.600 GeneticVariation disease BEFREE Activation of the ret proto-oncogene by three different chromosomal rearrangements occurs in up to 25% of papillary thyroid carcinomas. 7491517 1995
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.600 GeneticVariation disease BEFREE Our data suggest that some variants of RET and some specific haplotypes may act as low penetrance alleles in the predisposition to PTC. 11950855 2002
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.600 GeneticVariation disease BEFREE We found a significant association between the localization of RET mutations and the expression of three genes: NNAT (suggested to be a tumour suppressor gene), CDC14B (involved in cell cycle control) and NTRK3 (tyrosine receptor kinase that undergoes rearrangement in papillary thyroid cancer). 28181547 2017
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 In conclusion, RET/PTC rearrangements and BRAF mutations were associated with the different clinical and histopathological features in pediatric PTC. 31085772 2019
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.600 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
0.600 GeneticVariation disease BEFREE These results indicate that BRAF mutation and RET/PTC rearrangements are molecular markers of PTC that can be applied to FNA in adjunct to traditional cytology. 15472223 2004
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.600 GeneticVariation disease BEFREE The most frequent genetic alterations described thus far in human papillary thyroid carcinomas are somatic rearrangements of the RET proto-oncogene, which generate the chimeric RET/PTC oncogenes. 9438393 1998
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.600 GeneticVariation 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
0.600 GeneticVariation disease BEFREE RET/PTC is a transforming sequence created by the fusion of the tyrosine kinase domain of the RET protooncogene with the 5' end of the locus D10S170 designated by probe H4 and is frequently found activated in human papillary thyroid carcinomas. 1542652 1992