Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
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
0.100 GeneticVariation BEFREE Here, we show that depletion of RAF-1, a RAF family member with a poorly defined role in TC, decreases proliferation and increases apoptosis in TPC-1 cells and, less significantly, in cells harboring a BRAF(V600E) or HRAS(G13R) mutations, but without affecting ERK activation. 26265449

2015

dbSNP: rs113488022
rs113488022
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
0.100 GeneticVariation BEFREE In this study, we investigated the relationship between the TME and thyroid cancer progression in a mouse model where thyroid-specific expression of oncogenic BRAF and loss of Pten (Braf(V600E)/Pten(-/-)/TPO-Cre) leads to papillary thyroid cancers (PTC) that rapidly progress to poorly differentiated thyroid cancer (PDTC). 26818109

2016

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Thus, this study on a large cohort of TC patients from Middle East demonstrates that TERT promoter mutations are relatively common, especially in the non-CPTC, and are associated with more aggressive histopathological features, BRAF(V600E) mutation, and disease persistence/recurrence than the WT TERT. 26354077

2015

dbSNP: rs113488022
rs113488022
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
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
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

dbSNP: rs113488022
rs113488022
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: rs113488022
rs113488022
0.100 GeneticVariation BEFREE The results of this study allow us to conclude that low expression of MLH1 is associated with BRAF V600E mutations, RET/PTC rearrangements and transitions (IDH1 and NRAS) in patients with thyroid carcinoma. 23414134

2013

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE We demonstrate detection of hallmark BRAF V600E mutations by NGS within infarcted tissue of thyroid carcinomas after FNA. 29868707

2018

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Second, homogeneous staining occurs in the vast majority of cases, demonstrating that the BRAF(T1799A) mutation is a clonal event in thyroid cancer. 23775351

2013

dbSNP: rs113488022
rs113488022
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: rs113488022
rs113488022
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
0.100 GeneticVariation BEFREE BRAF(V600E) mutation is highly prevalent in thyroid carcinomas in the young population in Fukushima: a different oncogenic profile from Chernobyl. 26584635

2015

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Thus, regulation of AMPK activity may be potentially useful as a therapy for th</span>yroid cancer</span> if the cancer harbors a BRAF V600E mutation. 21795305

2011

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Thus, TERT with promoter mutations represents a prominent new oncogene in thyroid cancer and the mutations are promising new diagnostic and prognostic genetic markers for thyroid cancer, which, in combination with BRAF V600E mutation or other genetic markers (e.g. 26733501

2016

dbSNP: rs113488022
rs113488022
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: rs113488022
rs113488022
0.100 GeneticVariation BEFREE This study tests the prevalence of BRAF (V600E) mutation in thyroid cancer patients in Indian subcontinental population. 22105775

2012

dbSNP: rs113488022
rs113488022
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
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: rs113488022
rs113488022
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
0.100 GeneticVariation BEFREE The diagnostic sensitivity for thyroid cancer is significantly increased by BRAF V600E mutation analysis, indicating that the screening for BRAF mutation in FNAB samples has a relevant diagnostic potential. 22535974

2012

dbSNP: rs113488022
rs113488022
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
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