Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE In our study, BRAF V600E mutation revealed a strong association with specific histological variants of PTC: highly specific for CPTC, tall cell or oncocytic PTC, but negative in all cases of FVPTC. 22732794 2012
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE It has been suggested that patients with papillary thyroid cancer (PTC) harbouring the BRAF(V600E) mutation have a worse prognosis. 22702340 2012
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE These resu</span>lts suggest that BRAF(V599E) mutation is frequent in the etiopathogenesis of PTC. 12881714 2003
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE BRAF V600E detection in cytological thyroid samples: A key component of the decision tree for surgical treatment of papillary thyroid carcinoma. 26854757 2016
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE In summary, BRAF V600E-activated MAP kinase pathway causes hypomethylation and overexpression of WIPF1; WIPF1 then functions like an oncoprotein to robustly promote aggressive cellular and tumor behaviors of PTC. 27863429 2017
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE Vemurafenib showed antitumour activity in patients with progressive, BRAF(V600E)-positive papillary thyroid cancer refractory to radioactive iodine who had never been treated with a multikinase inhibitor. 27460442 2016
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE In this study, we used an automated immunohistochemistry (IHC) staining coupled with mouse monoclonal anti-BRAF V600E (VE1) primary antibody to screen the BRAF V600E mutation in 779 tumor cases, including 611 colorectal carcinomas (CRC), 127 papillary thyroid carcinomas (PTC) and 41 malignant melanomas. 25784606 2015
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE <i>BRAF</i>V600E (c.1799T>A) somatic mutation evaluation in fine needle aspiration biopsies (FNAB) is a powerful diagnostic tool in the settings of papillary thyroid cancer (PTC). 30374428 2018
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE In this article we will review the relation between B-Raf(V600E) and PTC, as well as both non-selective and selective pharmacological agents currently under investigation for treatment of B-Raf(V600E) positive PTC. 19356676 2009
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE In papillary thyroid cancer (PTC) and papillary-derived anaplastic thyroid cancer (ATC), the BRAF(V600E) mutation promotes follicular cell transformation. 25961545 2015
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE The immunocytochemical expression of VE-1 (BRAF V600E-related) antibody identifies the aggressive variants of papillary thyroid carcinoma on liquid-based cytology. 30875124 2019
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE Approximately 45% of papillary thyroid carcinomas harbor BRAF p.V600E mutations and current practice algorithms endorse molecular testing for BRAF p.V600E. 24897065 2014
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE Thus, this study, the largest on TERT mutation so far, demonstrates a significant role of BRAF V600E and TERT promoter mutations in the aggressiveness of PTC, which is particularly robust and cooperative when the two mutations coexist. 26943032 2016
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE These data indicate that BRAF(V600E) is associated some of the aggressive clinicopathological features of PTC including younger age at diagnosis, larger tumor size, and classic histological type, as well as also extrathyroidal invasion. 19355825 2009
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE Dabrafenib can stimulate radioiodine uptake in patients with metastatic BRAF V600E-mutant iodine-refractory PTC, representing a potential new therapeutic approach for these patients. 25549723 2015
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE BRAF V600E mutations may be more prevalent than previously thought in pediatric patients with PTC, but do not correlate with aggressive disease characteristics. 24604709 2014
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE BRAF(V600E) mutation detected on FNAB specimens, more than RET/PTC rearrangements, is highly specific for PTC and its routine research might well be an adjunctive and integrative diagnostic tool for the preoperative diagnostic iter. 17727338 2007
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE IHC is a suitable method to screen BRAF V600E mutation in FFPE samples of CRCs and PTCs. 30009773 2018
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE The Association of BRAF V600E Mutation With Tissue Inhibitor of Metalloproteinase-3 Expression and Clinicopathological Features in Papillary Thyroid Cancer. 29868127 2018
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE BRAF(V600E) mutation analysis from May-Grünwald Giemsa-stained cytological samples as an adjunct in identification of high-risk papillary thyroid carcinoma. 21948220 2011
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE RET/PTC rearrangement and BRAF(V600E) mutation are the two prevalent molecular alterations associated with papillary thyroid carcinoma (PTC), and their identification is increasingly being used as an adjunct to cytology in diagnosing PTC. 23722226 2013
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE BRAF V600E was found in 70% of the papillary thyroid cancers; there were no RAS mutations. 25019383 2014
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE Further, type I collagen enhanced the motility of Braf(V600E)/Pten(-/-)/TPO-Cre tumor cells in vitro In clinical specimens, we found COL1A1 and LOX to be upregulated in PTC and expressed at highest levels in PDTC and anaplastic thyroid cancer. 26818109 2016
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE Diagnostically, the BRAF(V600E) mutation is a powerful molecular marker for papillary thyroid carcinoma and, quite possibly, hairy cell leukemia as well. 22369373 2012
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE CD70 expression was associated with the presence of a precursor papillary thyroid carcinoma and the presence of BRAF V600E mutations in the anaplastic thyroid cancer lesion. 28383817 2017