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 <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 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 A literature search using PubMed identified all the pertinent literature on the identification and utilization of the B-Raf(V600E) mutation in thyroid cancer. 20637346

2010

dbSNP: rs113488022
rs113488022
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE According to our experimental results, the panel including cf-DNA, SLC5A8 and SLC26A4 hypermethylation, and BRAF(V600E) analysis appears easy, reproducible, and non-invasive for the diagnosis on TC. 23931930

2013

dbSNP: rs113488022
rs113488022
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE Acquired resistance to BRAF inhibition induces epithelial-to-mesenchymal transition in BRAF (V600E) mutant thyroid cancer by c-Met-mediated AKT activation. 27880942

2017

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 BRAF V600E mutation status was determined in 347 tumor samples from 314 patients with thyroid cancer (245 with conventional papillary thyroid cancer, 73 with follicular thyroid cancer, and 29 with the follicular variant of papillary thyroid cancer). 17717450

2007

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 BRAF V600E mutational status in pediatric thyroid cancer. 24677749

2014

dbSNP: rs113488022
rs113488022
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE BRAF V600E mutations are common in papillary thyroid carcinoma (PTC) and some de-differentiated thyroid cancers. 31529211

2019

dbSNP: rs113488022
rs113488022
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE BRAF provides signals crucial for proliferation of thyroid carcinoma cells spontaneously harboring the (V600E)BRAF mutation and, therefore, BRAF suppression might have therapeutic potential in (V600E)BRAF-positive thyroid cancer. 16533790

2006

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 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 BRAF(V600E) and microenvironment in thyroid cancer: a functional link to drive cancer progression. 21447745

2011

dbSNP: rs113488022
rs113488022
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE BRAF(T1799A) mutation is the most prevalent genetic alteration in thyroid cancers and is specific for PTC, characteristics that make it the most potentially helpful genetic tool to improve the diagnostic accuracy of FNAB. 22504197

2012

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 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

dbSNP: rs113488022
rs113488022
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE c-Met-mediated reactivation of PI3K/AKT signaling contributes to insensitivity of BRAF(V600E) mutant thyroid cancer to BRAF inhibition. 26456083

2016

dbSNP: rs113488022
rs113488022
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE Dideoxy sequencing is the most commonly used method for detecting the BRAF(V600E) mutation in thyroid cancer and melanoma. 18462259

2009

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 Evidence has also shown that the detection of the BRAF(V600E) mutation in cancer is crucial in order to identify novel avenues for thyroid cancer treatment.Based on the BRAF kinase structure, novel drugs can potentially be designed to target oncogenic BRAF in cancer therapeutics. 25961545

2015

dbSNP: rs113488022
rs113488022
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE From September 2008 to December 2009, we performed routine analysis of the BRAF(V600E) mutation using thyroid cancer tissue from 424 patients who underwent thyroidectomy with cervical lymph node dissection. 21803329

2012

dbSNP: rs113488022
rs113488022
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE Furthermore, glycolysis-related enzymes, such as LDHA and PKM2, were upregulated in BRAF V600E </span>mutant thyroid cancer specimens, thereby promoting glycolysis. 30768848

2019

dbSNP: rs113488022
rs113488022
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE Genetic alterations occurring in thyroid cancer frequently affect the RAS/RAF/MEK/ERK-pathway such as the oncogenic, kinase-activating BRAF(V600E) mutation. 26892809

2016

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