Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE Our findings not only reveal an epigenetic mechanism for BRAF V600E-promoted NIS silencing involving histone deacetylation at critical regulatory regions of the NIS promoter but also provide further support for our previously proposed combination therapy targeting major signaling pathways and histone deacetylase to restore thyroid gene expression for radioiodine treatment of thyroid cancer. 24243688

2014

dbSNP: rs113488022
rs113488022
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE This study investigates the expression of CYP24A1 and the effect of BRAF(V600E) on its expression in thyroid cancer. 24382015

2014

dbSNP: rs113488022
rs113488022
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE BRAF(V600E) mutation, in both primary and metastatic thyroid cancers, is associated with a marked drop in thyroperoxidase (29-fold) and pendrin (20-fold) expression and a considerable increase (five-fold) in GLUT-1 expression. 17854396

2008

dbSNP: rs113488022
rs113488022
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE We developed an allele-specific real-time PCR method for the detection of BRAF(T1799A) in blood samples and studied prospectively blood samples from 193 patients with thyroid cancer (173 PTC, 20 non-PTC) attending for routine follow-up. 19850689

2009

dbSNP: rs113488022
rs113488022
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE Unusually long-term responses to vemurafenib in BRAF V600E mutated colon and thyroid cancers followed by the development of rare RAS activating mutations. 30036146

2018

dbSNP: rs113488022
rs113488022
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE Thus, this study has confirmed that the BRAF(T1799A) mutation confers cancer cells sensitivity to PLX4032 and demonstrated its specific potential as an effective and BRAF(T1799A) mutation-selective therapeutic agent for thyroid cancer. 21185263

2011

dbSNP: rs113488022
rs113488022
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE The presence of BRAF V600E mutation in FNAC material is always associated with the presence of TC. 26884114

2016

dbSNP: rs113488022
rs113488022
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE BRAF((V600E)) mutation is the most frequent genetic alteration in papillary thyroid carcinomas (PTCs) that are 80-90% of all thyroid cancers. 18310287

2008

dbSNP: rs113488022
rs113488022
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE Given the strong genotype:phenotype correlation known to be present in thyroid cancer, the separation of BRAF(V600E)-like and RAS-like tumors has profound implications for its classification, especially the follicular variant of papillary carcinoma. 26569424

2016

dbSNP: rs113488022
rs113488022
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE Triple combination of PLX4032, SAHA, and TSH is a specific robust regimen to restore RAI avidity in RAI-refractory BRAF V600E-positive thyroid cancer, which warrants clinical trials to confirm. 26751190

2016

dbSNP: rs113488022
rs113488022
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE In thyroid cancer, TPO expression is decreased partly by the BRAF(V600E) mutation, with direct impact on significant hormone production. 30742860

2019

dbSNP: rs113488022
rs113488022
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE Hence, recent research efforts have been performed trying to explore several inhibitors of the V600E mutation-containing BRAF kinase as potential therapeutic options in thyroid cancer refractory to standard interventions. 30481266

2019

dbSNP: rs113488022
rs113488022
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE BRAF(V600E) mutation and DNA methylation are useful markers to distinguish mali</span>gnant thyroid neoplasm from benign. 24588959

2014

dbSNP: rs113488022
rs113488022
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE The BRAF V600E mutation was detected in the PTCs of the two patients with thyroid cancer. 29593792

2018

dbSNP: rs113488022
rs113488022
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE PCCl3 rat thyroid cells, PCCl3 cells overexpressing BRAF(V600E), or primary cultured tumor cells from a thyroid cancer mouse model, under TSH stimulation were treated with various reagents for 24 hours. 24400871

2014

dbSNP: rs113488022
rs113488022
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE In this work, we attempt to discuss some of the most recent molecular, preclinical and clinical evidence to construct a more exhaustive model of function for the BRAF V600E in development, progression and therapeutic approach of thyroid cancer. 24828987

2015

dbSNP: rs113488022
rs113488022
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE After treatment with the potent MEK 1/2 inhibitor AZD6244, MEK inhibition and cell growth were examined in four BRAF mutant (V600E) and two BRAF wild-type thyroid cancer cell lines and in xenografts from a BRAF mutant cell line. 17878251

2007

dbSNP: rs113488022
rs113488022
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE In this article, we review the pathogenesis of PTC, and the clinical implications of BRAF(V600E) mutation in the diagnosis, prognosis and potential targeted therapeutic strategies for thyroid cancers. 20230995

2010

dbSNP: rs113488022
rs113488022
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE Epigenetic silencing of TSHR gene in thyroid cancer patients in relation to their BRAF V600E mutation status. 24927793

2014

dbSNP: rs113488022
rs113488022
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE Small molecule inhibitors that selectively target B-Raf(V600E) may provide clinical benefit for patients with thyroid cancer. 17363500

2007

dbSNP: rs113488022
rs113488022
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE These results reveal a novel (V600E)BRAF-induced mechanism in thyroid tumours progression and provides a rationale for using the PLX4720 inhibitor to target (V600E)BRAF signalling to effectively control progression of thyroid cancer. 23435375

2013

dbSNP: rs113488022
rs113488022
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE <i>BRAF</i> V600E mutations have been successfully treated with targeted therapy in melanoma, non-small cell lung cancer, and thyroid cancer. 29295876

2018

dbSNP: rs113488022
rs113488022
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE This study also for the first time demonstrates an association of the BRAF(V600E) mutation with TC recurrence in pediatric patients. 26711586

2016

dbSNP: rs113488022
rs113488022
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE BRAF V600E protein was expressed in BM of 42/76 (55.3%) melanomas, 1/15 (6.7%) ovarian cancers, 4/72 (5.5%) colorectal cancers, 1/355 (0.3%) lung cancers, 2/6 thyroid cancers and 1/2 choriocarcinomas. 22012135

2012

dbSNP: rs113488022
rs113488022
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE The inability of MEK and RAF inhibitors, U0126 and sorafenib, respectively, to block the mitochondrial localization of BRAF(V600E) has additional therapeutic implications for BRAF(V600E)-positive thyroid cancers. 20926530

2011