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 GeneticVariation disease BEFREE Seventeen patients underwent a thyroid nodule FNAB (results: 12 benign, one follicular neoplasm, three suspicious for malignancy, and one papillary thyroid cancer [PTC]), from which six underwent thyroidectomy; PTC was confirmed by surgical pathology for all cases (8.5% of all nodules observed). 31461359 2020
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: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation disease BEFREE In this study, we performed the molecular analysis using a new simplified procedure that involves a panel of BRAF, RAS, RET and RET/PTC gene mutations in easily obtainable FNA samples, in the attempt to improve the efficacy of the FNA diagnosis of thyroid nodules and thus patient management. 28537891 2017
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 Biomarker disease BEFREE A molecular profile including BRAF and RAS mutations as well as RET/PTC rearrangement evaluation has been proposed to provide an accurate presurgical assessment of thyroid nodules and to reduce the number of unnecessary diagnostic surgeries, sparing patients' health and saving healthcare resources. 25333496 2015
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation disease BEFREE In thyroid nodule fine-needle aspiration (FNA) cytology, the atypia of undetermined significance or follicular lesion of undetermined significance (AUS/FLUS) category has a 5-15% malignancy risk that increases to 85-99% when mutation testing for BRAF, RAS, RET/PTC, or PAX8/PPARγ is positive. 24074409 2013
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 AlteredExpression disease BEFREE We concluded that BRAF mRNA expression may help to identify PTC among thyroid nodules independently of the presence of BRAFV600E mutation. 22770943 2012
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 Biomarker disease BEFREE The aim of the present work was to evaluate whether RET/PTC in benign thyroid nodules associates with a different nodular growth rate. 21411555 2011
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 Biomarker disease BEFREE These results indicate that molecular testing of thyroid nodules for RET/PTC must take into account of its high prevalence in benign nodules, inducing false positive diagnoses when the highly sensitive assay Southern-blot on RT-PCR is used. 21173509 2011
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation disease BEFREE Detection of RET/PTC, TRK and BRAF(V600E) in FNAB specimens is proposed as a diagnostic adjunctive tool in the evaluation of thyroid nodules with suspicious cytological findings. 17381488 2007
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 Biomarker disease BEFREE Assessment of RET/PTC oncogene activation in thyroid nodules utilizing laser microdissection followed by nested RT-PCR. 16028414 2005
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
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
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation disease BEFREE RET/PTC rearrangements in thyroid nodules: studies in irradiated and not irradiated, malignant and benign thyroid lesions in children and adults. 11443191 2001