Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Genomic Alterations of Anaplastic Thyroid Carcinoma Detected by Targeted Massive Parallel Sequencing in a BRAF(V600E) Mutation-Prevalent Area. 26980298

2016

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE DTC was present in half of the cases.BRAF V600E mutation was identified in nine of 36 (25%) ATCs; seven cases had identical mutations in both the ATC and DTC components. 17989125

2008

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE BRAF V600E mutation was the most common mutation, which is present in almost all HVPTC samples (16/17, 94%), most CPTC samples (20/26, 77%), and none of the ATC and PDTC samples. 28423545

2017

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE BRAF V600E and RAS mutations were mutually exclusive; all ATC cell lines exhibited a combination of mutations in either BRAF and TP53 or NRAS and TP53. 25576899

2015

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Conclusion Dabrafenib plus trametinib is the first regimen demonstrated to have robust clinical activity in BRAF V600E-mutated anaplastic thyroid cancer and was well tolerated. 29072975

2018

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Combined BRAF(V600E)- and SRC-inhibition induces apoptosis, evokes an immune response and reduces tumor growth in an immunocompetent orthotopic mouse model of anaplastic thyroid cancer. 24994118

2014

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE BRAF(V600E) mutations were identified in 22.2% of the carcinoma cases (n = 18, 15 PTCs and 3 anaplastic thyroid carcinomas). 23746767

2013

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Expression of miR-126 was down-regulated in BRAF(V600E) mutated undifferentiated thyroid carcinoma. 26384552

2015

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE In ATC that carries a BRAF V600E somatic mutation, combination therapy with BRAF and MEK inhibitors has shown promise but needs further study. 30717908

2019

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Three ATCs harbored the common BRAF mutation V600E. 18753363

2008

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE First, absent/faint staining for BRAF V600E correlates perfectly with the lack of the BRAF(T1799A) mutation, whereas strong staining is highly specific for the BRAF(T1799A) mutation in PTCs, PDTCs, and ATCs. 23775351

2013

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Here, we outlined the common pathways that are altered in ATC, including the BRAF(V600E)/ERK1/2-MEK1/2 and PI3K-AKT pathways. 25347569

2015

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Similar results were confirmed by in vivo study with orthotopic xenograft mouse model. c-Met-mediated reactivation of the PI3K/AKT pathway and MAPK pathway contributes to the relative insensitivity of BRAF (V600E) mutant anaplastic thyroid cancer cells to PLX4032. 26456083

2016

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE PLX4720 therapy should be tested and considered for a phase I study for the treatment of patients with B-Raf(V600E) ATC. 21355020

2011

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE In papillary thyroid cancer (PTC) and papillary-derived anaplastic thyroid cancer (ATC), the BRAF(V600E) mutation promotes follicular cell transformation. 25961545

2015

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Three of the lines carried a heterozygous BRAF mutation V600E, which is in line with reports of BRAF mutations in primary ATC and papillary thyroid cancer. 17465858

2007

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE The combinatorial treatment of PLX4032 and PHA665752, a c-Met inhibitor reversed EMT.Similar results were confirmed in vivo. c-Met-mediated reactivation of the PI3K/AKT pathway contributes to the drug resistance to PLX4032 in BRAF (V600E) mutant anaplastic thyroid cancer cells and further promotes tumor cell migration and invasion by upregulated EMT mechanism. 27880942

2017

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE We report a 65-year-old woman with anaplastic thyroid carcinoma (BRAF V600E mutation) who had lymph node metastases (pT4 N1b) treated by total thyroidectomy, postoperative radiotherapy, adjuvant chemotherapy (paclitaxel and pazopanib) and targeted therapy (vemurafenib). 26347145

2016

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE We used RNA interference to evaluate the effect of BRAF knockdown in the human anaplastic thyroid carcinoma cell lines FRO and ARO carrying the BRAF V600E (V600EBRAF) mutation. 16533790

2006

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE We used a Cre-regulated Braf(V600E) mouse and a conditional Trp53 allelic series to demonstrate that p53 constrains progression from PTC to ATC. 24711431

2014

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE We characterized and utilized mouse cell lines derived from PTC and ATC tumors arising in genetically engineered mice with thyroid-specific expression of endogenous Braf(V600E/WT) and deletion of either Trp53 (p53) or Pten. 24295207

2014

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE BRAF(V600E) mutation was detected in 20 of 43 PTCs and all three anaplastic thyroid carcinomas (ATCs). 19156774

2009

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE BRAF V600E mutation in anaplastic thyroid carcinomas and their accompanying differentiated carcinomas. 17453004

2007

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE In the setting of BRAF V600E mutated ATC, dabrafenib/trametinib combination therapy and vemurafenib monotherapy have both demonstrated efficacy. 31277524

2019

dbSNP: rs113488022
rs113488022
0.100 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