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: C0040137
Disease: Thyroid Nodule
Thyroid Nodule 		0.100 Biomarker disease BEFREE • DWI and DKI parameters can identify PTC from benign thyroid nodules. 28616727 2017
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.600 Biomarker disease BEFREE β-cat = β-catenin 1; CI = confidence interval; PTC = papillary thyroid carcinoma; ROC = receiver operating characteristic. 29498921 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 GeneticVariation group BEFREE While the presence of a BRAF and RET/PTC mutation was associated with cancer in 100% of samples each, the presence of a RAS and PAX8/PPARG mutation was associated with cancer in only 12% and 50% of samples, respectively. 23837487 2014
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 GeneticVariation group BEFREE While the presence of a BRAF and RET/PTC mutation was associated with cancer in 100% of samples each, the presence of a RAS and PAX8/PPARG mutation was associated with cancer in only 12% and 50% of samples, respectively. 23837487 2014
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.020 GeneticVariation disease BEFREE While mutations of the PTC gene could not be detected in 4 BCNS-associated OKCs by direct DNA sequencing, 3 of 5 primary and 4 of 4 recurrent OKCs had several mutations of this gene. 15308259 2004
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma 		0.100 GeneticVariation disease BEFREE Whether a limited surgical approach is also justified in other cases, e.g. in any patient with intrathyroidal PTC or patients with micro-FTC (follicular thyroid carcinoma), remains to be shown and is the subject of ongoing investigations. 12192544 2002
CUI: C1852502
Disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT 		0.010 GeneticVariation disease BEFREE We used imatinib to treat a 49-year old man with atypical CMD in accelerated phase and the H4 (D10S170)-PDGFRB fusion gene. 15477214 2004
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		0.010 GeneticVariation disease BEFREE We used imatinib to treat a 49-year old man with atypical CMD in accelerated phase and the H4 (D10S170)-PDGFRB fusion gene. 15477214 2004
CUI: C2827469
Disease: Coronary Microvascular Disease
Coronary Microvascular Disease 		0.010 GeneticVariation disease BEFREE We used imatinib to treat a 49-year old man with atypical CMD in accelerated phase and the H4 (D10S170)-PDGFRB fusion gene. 15477214 2004
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE We tested a resulting prediction that RET/PTC expression in thyroid epithelium should be sufficient to cause the changes in nuclear morphology diagnostic of this tumor. 9811335 1998
CUI: C0040250
Disease: Tinea Capitis
Tinea Capitis 		0.010 Biomarker disease BEFREE We studied the frequency of ret/PTC activation in a group of sporadic and radiation-induced thyroid carcinomas (n = 49) and adenomas (n = 13) among 44 individuals treated for Tinea Capitis with low-dose external irradiation as well as in 18 nonirradiated subjects. 15126554 2004
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.020 Biomarker disease BEFREE We show that PTC-209 reduces the viability of MM cells via induction of apoptosis and reveal that the anti-MM actions of PTC-209 are mediated by on-target effects i.e. downregulation of BMI-1 protein and the associated repressive histone mark H2AK119ub, leaving other PRC1 subunits such as CBX-7 and the catalytic subunit RING1B unaffected. 29262596 2017
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 AlteredExpression disease BEFREE We scored and correlated CCDC6 and USP7 expression levels in a prostate cancer tissue microarray (TMA). 28415632 2017
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 AlteredExpression disease BEFREE We scored and correlated CCDC6 and USP7 expression levels in a prostate cancer tissue microarray (TMA). 28415632 2017
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.060 Biomarker group BEFREE We retrospectively reviewed 16 patients with RPLN metastasis of PTC who underwent therapeutic dissection of RPLN metastases. 31004196 2019
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.600 Biomarker disease BEFREE We report the successful validation of a combined gene expression profiling and tissue microarray approach to papillary thyroid carcinoma (PTC) biomarker identification. 18261626 2008
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE We report a FAP-associated CMVPTC tumor with atypically aggressive features harboring a RAS mutation and review the molecular mechanisms associated with this interesting PTC subtype. 24702198 2014
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.600 GeneticVariation disease BEFREE We report a FAP-associated CMVPTC tumor with atypically aggressive features harboring a RAS mutation and review the molecular mechanisms associated with this interesting PTC subtype. 24702198 2014
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.050 GeneticVariation disease BEFREE We report a FAP-associated CMVPTC tumor with atypically aggressive features harboring a RAS mutation and review the molecular mechanisms associated with this interesting PTC subtype. 24702198 2014
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.600 GeneticVariation disease BEFREE We hypothesize that a subset of HCTs represent PTC with clinical, histological, and immunohistochemical features based on specific molecular events. ret/PTC gene rearrangements give rise to novel oncogenes that are unique to PTC. 10690905 2000
CUI: C0010481
Disease: Cushing Syndrome
Cushing Syndrome 		0.010 GeneticVariation disease BEFREE We herein first report BCOR gene mutation in Cushing's syndrome secondary to TPC and it may become a promising therapeutic target in the future. 28834902 2017
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome 		0.010 GeneticVariation disease BEFREE We herein first report BCOR gene mutation in Cushing's syndrome secondary to TPC and it may become a promising therapeutic target in the future. 28834902 2017
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.050 Biomarker disease BEFREE We here report a case of NSCLC positive for the <i>CCDC6-RET</i> fusion gene that benefited from treatment with pemetrexed over a period of 30 months, suggesting that thymidylate synthase-targeted drugs such as pemetrexed may show efficacy for NSCLC harboring <i>RET</i> fusions. 31360064 2019
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: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma 		0.100 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