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 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 In thyroid cancer, TPO expression is decreased partly by the BRAF(V600E) mutation, with direct impact on significant hormone production. 30742860

2019

dbSNP: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
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: 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 We demonstrate detection of hallmark BRAF V600E mutations by NGS within infarcted tissue of thyroid carcinomas after FNA. 29868707

2018

dbSNP: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
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: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation BEFREE TERT promoter mutations were likely to occur in BRAF V600E positive TC. 30024548

2018

dbSNP: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation BEFREE Utility of the BRAF p.V600E immunoperoxidase stain in FNA direct smears and cell block preparations from patients with thyroid carcinoma. 29579361

2018

dbSNP: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation BEFREE In summary, the present study demonstrated that thyroid cancer harboring the BRAF V600E mutation was resistant to a selective BRAF inhibitor due to reactivation of the MAPK pathway. 29616135

2018

dbSNP: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation BEFREE These data support the role of IL6/STAT3 signaling pathway in modulating TC cell response to PLX4032 and candidate IL6 targeting as a strategy to improve the activity of PLX4032 in BRAF V600E TC cells. 29969659

2018

dbSNP: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
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: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation BEFREE This represents a novel mechanism in BRAF V600E-promoted PTC aggressiveness and identifies WIPF1 as a novel therapeutic target for thyroid cancer. 27863429

2017

dbSNP: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation BEFREE The BM probe not only enabled sensitive detection of two types of EGFR-associated point mutations located in GC-rich regions, but also successfully identified the BRAF V600E mutation in the serum from a thyroid cancer patient which could not be detected by the conventional sequencing method. 28201758

2017

dbSNP: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
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: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation BEFREE By contrast, evidences about sensitivity of thyroid carcinomas to BRAF inhibition are conflicting and it has been proposed that BRAF V600E thyroid carcinoma</span> cells are less sensitive to BRAF inhibitors due to activation of parallel signaling pathways. 29033690

2017

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 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 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: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
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: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation BEFREE The CVF approach identified single-mutation driver candidates, such as BRAF V600E in the thyroid cancer dataset. 26543077

2016

dbSNP: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
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: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation BEFREE We performed Sanger sequencing to detect BRAF V600E and TERT promoter mutations and both immunohistochemistry and fluorescence in situ hybridization to identify ALK rearrangement on 243 thyroid cancers. 26857243

2016

dbSNP: rs121913377
rs121913377
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.100 GeneticVariation BEFREE Inhibition of BRAF kinase suppresses cellular proliferation, but not enough for complete growth arrest in BRAF V600E mutated papillary and undifferentiated thyroid carcinomas. 27179656

2016

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