Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation BEFREE The BRAF V600E mutation is the most common genetic alteration in thyroid cancer. 25266729

2014

dbSNP: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation BEFREE They also potently blocked MEK phosphorylation in human thyroid cancer cell lines with either RET/PTC1 (TPC1) or BRAF(V600E) (NPA, ARO, and FRO) mutations. 16551863

2006

dbSNP: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
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: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
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: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation BEFREE BRAF V600E mutation, RET rearrangements, and RAS mutations are the common genetic alterations in differentiated thyroid carcinomas derived from follicular thyroid cells. 27264674

2016

dbSNP: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation BEFREE TERT promoter mutations and their association with BRAF V600E mutation and aggressive clinicopathological characteristics of thyroid cancer. 24617711

2014

dbSNP: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation BEFREE This study investigated the therapeutic potential of a BRAF(V600E)-selective inhibitor, PLX4032 (RG7204), for thyroid cancer by examining its effects on the MAP kinase signaling and proliferation of 10 thyroid cancer cell lines with wild-type BRAF or BRAF(T1799A) mutation. 21185263

2011

dbSNP: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation BEFREE Epidermal growth factor receptor (EGFR) overexpression (EGFR-H) is implicated in thyroid carcinoma disease progression; however, the clinicopathologic significance of EGFR-H in tumors that harbor EGFR and/or v-Raf murine sarcoma viral oncogene homolog B1 (BRAF)(V600E) mutations is unknown. 23746767

2013

dbSNP: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation BEFREE In many cancers, including thyroid cancer, B-Raf(V600E) appears to play a crucial role in cell proliferation, survival and de-differentiation. 19356676

2009

dbSNP: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation BEFREE In BRAF V600E mutated thyroid carcinomas, active ERK and active AKT kinase proteins were noted. 26403329

2015

dbSNP: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation BEFREE BRAF(V600E) and microenvironment in thyroid cancer: a functional link to drive cancer progression. 21447745

2011

dbSNP: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation BEFREE PTC, the most frequent thyroid carcinoma histotype, is associated with gene rearrangements that generate RET/PTC and TRK oncogenes and with BRAF-V600E and RAS gene mutations. 23132790

2013

dbSNP: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation BEFREE These data clearly confirm that BRAF(V599E) is the more common genetic alteration found to date in adult sporadic PTCs, that it is unique for this thyroid cancer histotype, and that it might drive the development of PTCs of the classic papillary subtype. 15126572

2004

dbSNP: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
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: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
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: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation BEFREE Clinicopathologic features and BRAF(V600E) mutation analysis in cutaneous metastases from well-differentiated thyroid carcinomas. 17387744

2007

dbSNP: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation BEFREE When BRAF(V600E)-positive thyroid cancer cells were incubated with the specific BRAF inhibitor PLX4032, sensitivity to gefitinib was restored. 23559083

2013

dbSNP: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation BEFREE The BRAF V600E mutation was detected in the PTCs of the two patients with thyroid cancer. 29593792

2018

dbSNP: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
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: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation BEFREE BRAF V600E mutations are common in papillary thyroid carcinoma (PTC) and some de-differentiated thyroid cancers. 31529211

2019

dbSNP: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation BEFREE The BRAF(V600E) mutation was present in 93 (83%) of 112 thyroid cancers. 17054470

2006

dbSNP: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation BEFREE MicroRNA-126 suppresses proliferation of undifferentiated (BRAF(V600E) and BRAF(WT)) thyroid carcinoma through targeting PIK3R2 gene and repressing PI3K-AKT proliferation-survival signalling pathway. 26384552

2015

dbSNP: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation BEFREE The aim of this study was to determine whether combined detection of BRAF(V600E) mutation and methylation markers on FNABs could improve the diagnostic accuracy of thyroid cancer. 24588959

2014

dbSNP: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation BEFREE Moreover, our results suggest that the mTOR pathway could be a good target to enhance therapy effects in certain types of thyroid carcinoma, namely in those harboring the BRAF(V600E) mutation. 22549934

2012

dbSNP: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
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