Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913377
rs121913377
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: rs121913377
rs121913377
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: rs121913377
rs121913377
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: rs121913377
rs121913377
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: rs121913377
rs121913377
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE It is evident that the detection of the BRAF V600E mutation is crucial in order to identify novel avenues for thyroid cancer treatment. 22858857

2012

dbSNP: rs121913377
rs121913377
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: rs121913377
rs121913377
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE The BRAF(V600E) mutation can be detected peripherally in the serum of patients with thyroid cancer. 23161556

2013

dbSNP: rs121913377
rs121913377
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: rs121913377
rs121913377
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: rs121913377
rs121913377
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: rs121913377
rs121913377
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
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: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE Immunohistochemical detection of mutated BRAF V600E supports the clonal origin of BRAF-induced thyroid cancers along the spectrum of disease progression. 23775351

2013

dbSNP: rs121913377
rs121913377
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: rs121913377
rs121913377
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: rs121913377
rs121913377
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: rs121913377
rs121913377
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: rs121913377
rs121913377
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: rs121913377
rs121913377
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE The BRAF V600E mutation is the most common genetic alteration in thyroid cancer. 25266729

2014

dbSNP: rs121913377
rs121913377
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
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: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE Overall, BRAF(V600E) PTC tumors display a broadly immunosuppressive profile and evidence of disturbed host tumor immune surveillance that may contribute to the poorer outcomes observed in this subset of patients with thyroid cancer. 24955518

2014

dbSNP: rs121913377
rs121913377
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
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: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE In conclusion, the present study on the first Italian series of thyroid cancers shows a frequency of 38.3% of BRAF(V599E) in the classical variant of PTC, confirming the key role of this mutation in promoting tumourigenesis. 15272920

2004

dbSNP: rs121913377
rs121913377
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: rs121913377
rs121913377
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

dbSNP: rs121913377
rs121913377
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE While BRAF(V600E) is a highly specific marker of thyroid cancer, RET rearrangements have been disclosed also in non malignant thyroid lesions and their biological significance is debated. 21048359

2010