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 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 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 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 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