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: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 Biomarker disease BEFREE RET/PTC oncogene activation occurs in about 20% of human thyroid papillary carcinomas. 7566982 1995
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 AlteredExpression disease BEFREE Expression of the RET/PTC fusion gene as a marker for papillary carcinoma in Hashimoto's thyroiditis. 9001272 1997
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 AlteredExpression disease BEFREE Therefore, the repression of CREB1 activity by CCDC6 has a critical function in the development of human thyroid papillary carcinomas carrying RET/PTC1 activation. 20498639 2010
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 Biomarker disease BEFREE RET rearrangements are restricted to a well-differentiated papillary carcinoma, suggesting that RET/PTC positive papillary carcinomas do not progress to undifferentiated carcinoma. 15368067 2005
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 Biomarker disease BEFREE - To detect histologic and molecular differences separating NIFTP from follicular adenomas (FAs) and invasive carcinomas, particularly papillary carcinomas with extensive follicular growth (PTC-EFGs) and invasive encapsulated PTC-FV (IE-PTC-FV). 29582677 2018
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 GeneticVariation disease BEFREE The present data do not support a major geographic difference in the prevalence of ret/PTC rearrangements in papillary carcinomas between Japan, the United States, and Italy. 9669285 1998
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 GeneticVariation disease BEFREE The identification of ret/PTC gene rearrangements refined the diagnosis of PC in 9 of 15 specimens (60%) that would otherwise have been considered indeterminate and in 2 of 6 that were considered insufficient for cytological diagnosis. 11344225 2001
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 Biomarker disease BEFREE This study questions the relevance of PTC/retTPC oncogene in the carcinogenesis of thyroid papillary carcinomas in the Saudi population. 8275421 1994
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 GeneticVariation disease BEFREE Prevalence of RET/PTC rearrangements in thyroid papillary carcinomas: effects of the detection methods and genetic heterogeneity. 16772343 2006
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 Biomarker disease BEFREE Chromosomal rearrangements involving the RET gene, known as RET/PTC, are prevalent in thyroid papillary carcinomas from patients with radiation history. 15671095 2005
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 Biomarker disease BEFREE There is some evidence that different types of RET/PTC may be associated with distinct biologic properties of papillary carcinomas. 12114746 2002
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 GeneticVariation disease BEFREE Furthermore, the PTC/retTPC chimeric transcripts were detected in two PCs with the rearrangement by reverse transcription polymerase chain reaction. 1620547 1992
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 AlteredExpression disease BEFREE We have recently reported the identification of a new oncogene, named PTC, frequently activated in human thyroid papillary carcinomas. 1701232 1990
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 GeneticVariation disease BEFREE RNA was isolated from multinodular goiter (MNG; n=6), papillary carcinoma (PTC, n=14), follicular carcinoma (FC; n=5), and Hürthle cell carcinoma (HCC; n=7). 24559275 2014
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 GeneticVariation disease BEFREE We analyzed the prevalence of BRAF point mutations and RET/PTC rearrangements in 55 post-Chernobyl papillary carcinomas, compared with 82 sporadic papillary carcinomas. 15145515 2004
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
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: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 GeneticVariation disease BEFREE BRAF and RAS mutations and RET/PTC gene rearrangements were found in 65.1%, 0%, and 1.6% of papillary carcinomas, respectively. 24591770 2014
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 GeneticVariation disease BEFREE The aim of this study was to investigate the frequency and types of PTC genetic rearrangements in papillary carcinoma in a population of Hong Kong Chinese. 12457448 2002
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 Biomarker disease BEFREE We did not find any ret transcripts in papillary carcinomas negative for PTC activation, nor in normal thyroid and in non-papillary thyroid neoplasias. 1457350 1992
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 Biomarker disease BEFREE This study demonstrates that all thyroid carcinomas harboring activating RET rearrangements exhibit a well-differentiated phenotype, that of papillary carcinoma, and indicates that the subset of RET/PTC-positive papillary carcinomas do not progress to more aggressive, less differentiated tumor phenotypes. 9516913 1998
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 GeneticVariation disease BEFREE Papillary carcinomas show frequently a specific gene rearrangement which gives rise to the formation of several types of so-called RET/PTC chimeric genes. 10834397 2000
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 Biomarker disease BEFREE The frequency, if we consider exclusively the papillary carcinomas, is in both cases 12%; (b) show that the TRK oncogene plays a role in the development of a minority of radiation-associated papillary thyroid carcinomas but not in adenomas; and (c) confirm that RET/PTC rearrangements are the major genetic alteration associated with ionizing radiation-induced thyroid tumorigenesis. 10646882 2000
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 GeneticVariation disease BEFREE Employing in situ hybridization to detect INSL-3 transcripts and specific rabbit antisera against the INSL-3 proteins, both INSL-3 isoforms were detected in patients with Graves' disease (n=10), follicular carcinomas (FTC; n=12), papillary carcinomas (PTC; n=9) and undifferentiated anaplastic carcinomas (UTC; n=15). 12684664 2003
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 Biomarker disease BEFREE Taken together these results support the concept that RET/PTC activation plays a central role in the pathogenesis of thyroid papillary carcinomas in both Ukraine and Belarus after the Chernobyl accident. 10566678 1999
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 Biomarker disease BEFREE Assessment of RET/PTC oncogene activation and clonality in thyroid nodules with incomplete morphological evidence of papillary carcinoma: a search for the early precursors of papillary cancer. 12057919 2002