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 Biomarker disease BEFREE Analysis by a reverse transcriptase-polymerase chain reaction method showed that the ret rearrangement-positive tumor contained the PTC/retTPC chimeric transcript, which was reported to be found specifically in thyroid tumors and adenomatous goiter. 1381340 1992
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 Biomarker disease BEFREE In the current study, the frequency of PTC/retTPC oncogene in thyroid tumors from Saudi Arabia was investigated. 8275421 1994
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 GeneticVariation disease BEFREE A novel multicolor hybridization scheme applied to localization of a transcribed sequence (D10S170/H4) and deletion mapping in the thyroid cancer cell line TPC-1. 9067436 1996
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 Biomarker disease BEFREE Present data suggest that: (1) the incidence of FAP-associated thyroid cancer probably has been underestimated in the past; (2) intensive screening could detect a larger than expected number of thyroid carcinomas; (3) systematic screening is recommended in patients with ocular patches and genetic mutation in exon 15; (4) Hashimoto-like findings do not exclude carcinoma but are a frequent accompanying finding; (5) despite frequent multicentricity and early lymph node involvement, FAP-associated thyroid tumors seem to have an excellent prognosis, in particular those showing ret-PTC activation. 9841749 1998
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 GeneticVariation disease BEFREE Distinct multiple RET/PTC gene rearrangements in multifocal papillary thyroid neoplasia. 9814501 1998
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 GeneticVariation disease BEFREE Prevalences of Gs alpha, ras, p53 mutations and ret/PTC rearrangement in differentiated thyroid tumours in a Korean population. 9861322 1998
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 Biomarker disease BEFREE We designed the present study to evaluate in a single laboratory, using the same methodologies, the pattern of RET/PTC activation in thyroid tumors from different groups of patients (exposed or not exposed to radiation, children or adults, with benign or malignant tumors) in relationship to the above mentioned variables. 11443191 2001
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 GeneticVariation disease BEFREE Analysis of ret/PTC gene rearrangements refines the fine needle aspiration diagnosis of thyroid cancer. 11344225 2001
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
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 Biomarker disease BEFREE RET/PTC rearrangement in thyroid tumors. 12114746 2002
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 Biomarker disease BEFREE We have demonstrated that there is a high preponderance of ras and ret/PTC oncogenes in the evolution of thyroid cancer. 12240753 2002
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 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 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 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 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 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 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 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