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: C0342190
Disease: C-cell hyperplasia of thyroid
C-cell hyperplasia of thyroid
0.200 GeneticVariation disease BEFREE Mice expressing RET(C618F) display mild C cell hyperplasia and increased numbers of enteric neurons, indicating that RET(C618F) confers gain-of-function phenotypes. 30884088 2019
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
C-cell hyperplasia of thyroid
0.200 GeneticVariation disease BEFREE Of the 11 patients who had RET proto-oncogene mutations ranked as Moderate Risk for medullary thyroid cancer (MTC) (American Thyroid Association), one had a microcarcinoma on the resected specimen, and the others had C-Cell Hyperplasia. 29336779 2018
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
C-cell hyperplasia of thyroid
0.200 GeneticVariation disease BEFREE The age-related progression of MTC across histopathological groups (normal thyroid/C-cell hyperplasia; node-negative MTC; node-positive MTC) was statistically significant for 13 unique RET mutations (p.Cys611Phe/c.1832G > T; p.Cys611Tyr; p.Cys618Ser/c.1852T > A; p.Cys620Arg; p.Cys634Arg; p.Cys634Phe; p.Cys634Ser; p.Cys634Tyr; p.Glu768Asp; p.Leu790Phe/c.2370G > T; p.Val804Met; p.Ser891Ala; p.Met918Thr), whereas two unique RET mutations (p.Cys618Phe; p.Cys634Gly) trended toward statistical significance. 29656518 2018
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
C-cell hyperplasia of thyroid
0.200 GeneticVariation disease BEFREE Although in silico analysis may be helpful in quantitating changes in protein structure that occur in patients who have novel RET mutations (single or multiple), additional factors must account for the highly variable aggressiveness of the disease (C-cell hyperplasia/medullary thyroid carcinoma [MTC]) noted in our kindred. 26876062 2016
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
C-cell hyperplasia of thyroid
0.200 GeneticVariation disease BEFREE Familial medullary thyroid cancer (MTC) and its precursor, C cell hyperplasia (CCH), is associated with germline RET mutations causing multiple endocrine neoplasia type 2. 26945007 2016
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
C-cell hyperplasia of thyroid
0.200 GeneticVariation disease BEFREE Tenascin C, EGFR, E-cadherin, TTF-1-expression, and their correlations with RET mutation status were investigated in 30 patients with medullary thyroid carcinoma (MTC) (n = 26) or C-cell hyperplasia (n = 4). 27409604 2016
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
C-cell hyperplasia of thyroid
0.200 GeneticVariation disease BEFREE Patient affected by neurofibromatosis type 1 and thyroid C-cell hyperplasia harboring pathogenic germ-line mutations in both NF1 and RET genes. 24361808 2014
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
C-cell hyperplasia of thyroid
0.200 GeneticVariation disease BEFREE Germline RET proto-oncogene mutations are the genetic causes of multiple endocrine neoplasia type 2 and a strong genotype-phenotype correlation exists, particularly between a specific RET codon mutation and the (a) age-related onset and (b) thyroid tumor progression, from C-cell hyperplasia to medullary thyroid carcinoma and, ultimately, to nodal metastases. 22584703 2012
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
C-cell hyperplasia of thyroid
0.200 GeneticVariation disease BEFREE In this study, we analyze whether stroma reaction seen by Tn-C expression is detected early in tumorigenesis of medullary thyroid carcinoma (MTC) including medullary microcarcinoma and C-cell hyperplasia (CCH), which is accepted to be a precursor lesion of MTC in the setting of RET oncogene germ-line mutation. 19484261 2009
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
C-cell hyperplasia of thyroid
0.200 GeneticVariation disease BEFREE The influence of gender, age, and RET polymorphisms on C-cell hyperplasia and medullary thyroid carcinoma. 18976163 2008
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
C-cell hyperplasia of thyroid
0.200 GeneticVariation disease BEFREE Absence of RET gene point mutations in sporadic thyroid C-cell hyperplasia. 17384213 2007
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
C-cell hyperplasia of thyroid
0.200 GeneticVariation disease BEFREE We analyzed 6 MTCs and 1 C-cell hyperplasia (CCH) specimen from 7 patients with MEN2A and RET germline mutations in codons 609, 618, 620, or 634, using microdissection, microsatellite analysis, phosphorimage densitometry, and VHL mutation analysis. 16707008 2006
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
C-cell hyperplasia of thyroid
0.200 GeneticVariation disease BEFREE Individual germline mutations in the RET (REarranged during Transfection) proto-oncogene may set the time window for malignant progression from C-cell hyperplasia to familial medullary thyroid carcinoma. 15523405 2004
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
C-cell hyperplasia of thyroid
0.200 GeneticVariation disease BEFREE Seventeen cases of MTC or bilateral C-cell hyperplasia (CCH) and separate occult PTC were identified from 16 different families. 15588381 2004
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
C-cell hyperplasia of thyroid
0.200 Biomarker disease BEFREE We conclude that we have identified a new syndrome, characterized by familial non-RET C cell hyperplasia. 14557476 2003
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
C-cell hyperplasia of thyroid
0.200 GeneticVariation disease BEFREE The study objective was to investigate the impact of RET genotype on disease progression from C-cell hyperplasia (CCH) to MTC. 14555929 2003
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
C-cell hyperplasia of thyroid
0.200 GeneticVariation disease BEFREE There was a significant age-related progression from C-cell hyperplasia to medullary thyroid carcinoma and, ultimately, nodal metastasis in patients whose RET mutations were grouped according to the extracellular- and intracellular-domain codons affected and in those with the codon 634 genotype. 14561794 2003
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
C-cell hyperplasia of thyroid
0.200 GeneticVariation disease BEFREE Although RET mutation is likely sufficient to cause C-cell hyperplasia, the precursor lesion to MTC, tumor progression is thought to be due to clonal expansion caused by the accumulation of somatic events. 12679485 2003
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
C-cell hyperplasia of thyroid
0.200 GeneticVariation disease BEFREE It is likely that the mutation causes familial medullary thyroid carcinoma (FMTC), because no other mutation was found in RET, the mutation cosegregates with medullary thyroid carcinoma (MTC) or C cell hyperplasia (CCH) in patients subjected to surgery, and family members without the mutation are clinically unaffected. 14602786 2003
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
C-cell hyperplasia of thyroid
0.200 GeneticVariation disease BEFREE Sequencing analysis of the RET proto-oncogene revealed a Cys634Trp (TGC->TGG) mutation in all clinically affected family members and in an asymptomatic 5-year-old child who, after thyroidectomy, was found to have multicentric medullary thyroid carcinoma and C-cell hyperplasia. 11939755 2002
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
C-cell hyperplasia of thyroid
0.200 GeneticVariation disease BEFREE The presence of C cell hyperplasia should always be reported; however its usefulness for indicating familial risk is limited and its role as a preneoplastic condition in patients without RET-protooncogene mutations remains to be elucidated. 12089863 2002
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
C-cell hyperplasia of thyroid
0.200 GeneticVariation disease BEFREE In most examined populations the RET germline polymorphism S836S is found in about 3.6% of the normal population but in about 9% of patients suffering from sporadic C-cell hyperplasia or medullary thyroid carcinoma. 12410354 2002
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
C-cell hyperplasia of thyroid
0.200 Biomarker disease BEFREE In order to study the relationship between a misfunctioning of the RET proto-oncogene and the presence of C-cell hyperplasia, we compared a series of thyroid glands presenting sporadic or radiation-associated tumours, as well as samples of unrelated normal thyroid tissues, for alteration in exons 10 and 11 of the gene and for the presence or absence of C-cell hyperplasia. 12085189 2002
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
C-cell hyperplasia of thyroid
0.200 GeneticVariation disease BEFREE Genetic testing for RET germline mutations affords rapid identification of germline carriers, offering the prospect of cure before C-cell hyperplasia (CCH) has progressed to medullary thyroid carcinoma (MTC). 11376404 2001
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
C-cell hyperplasia of thyroid
0.200 GeneticVariation disease BEFREE Gene carriers with noncysteine RET mutations had a lower incidence of medullary thyroid carcinoma (78.2% vs. 94.1%) than those with mutation in exon 10; 20.2% had C cell hyperplasia only, although thyroidectomized at an older age. 11502806 2001