CCDC6, coiled-coil domain containing 6, 8030

N. diseases: 156; N. variants: 6
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 We evaluated the best tagging SNPs from our previous PTC study and additionally included SNPs in or near FOXE1 and NKX2-1 genes, known susceptibility loci for thyroid cancer. 27207655 2016
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
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 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 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 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 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 GeneticVariation disease BEFREE CCDC6 was originally identified in chimeric genes as caused by chromosomal translocation involving the RET protooncogene in some thyroid tumors. 23145146 2012
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 Biomarker 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: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 Biomarker disease BEFREE Further, we found that the frequency of FRET-SE between four pairs of genes that form rearrangements in thyroid cancer was 5% for RET and CCDC6, 4% for RET and NCOA4, 2% for BRAF and AKAP9, and 2% for NTRK1 and TPR. 22887574 2012
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 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 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 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 GeneticVariation disease LHGDN Incidentally simultaneous occurrence of RET/PTC, H4-PTEN and BRAF mutation in papillary thyroid carcinoma. 18226854 2008
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 GeneticVariation disease BEFREE H4(D10S170) gene has been identified upon its frequent rearrangement with RET in papillary thyroid tumours (RET/PTC1). 17420723 2007
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 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 We analyzed the methylation pattern of 17 gene promoters in nine thyroid cancer cell lines and in 38 primary thyroid carcinomas (13 papillary thyroid carcinoma [PTC], 10 follicular thyroid carcinoma [FTC], 9 undifferentiated thyroid carcinoma [UTC], 6 medullary thyroid carcinoma [MTC]), 12 goiters, and 10 follicular adenomas (FA) by methylation- specific polymerase chain reaction (PCR). 16889486 2006
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 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 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 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 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