Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation BEFREE The application of BRAF(V600E) mutation analysis in FNA specimens is more effective for thyroid nodules with malignant US features as compared with nodules without malignant US features. 20187782

2010

dbSNP: rs113488022
rs113488022
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation BEFREE The application of BRAF(V600E) mutation analysis in US-guided FNAB can improve the diagnostic accuracy of thyroid nodules. 21707687

2011

dbSNP: rs113488022
rs113488022
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation BEFREE The BRAF(V600E) mutation analysis was a useful adjunctive diagnostic tool in the diagnosis of thyroid nodules with suspicious ultrasound features regardless of size. 23717622

2013

dbSNP: rs113488022
rs113488022
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation BEFREE The detection rate of the BRAF(V600E) mutation in thyroid nodules without suspicious US features was only 6.6 % (32/485). 24452872

2014

dbSNP: rs113488022
rs113488022
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation BEFREE The molecular tests on the thyroid nodule revealed the presence of BRAF-V600E mutation, but wild type BRAF in the ectopic tissue. 23200790

2013

dbSNP: rs113488022
rs113488022
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation BEFREE The preoperative knowledge of the V600E mutation status is fundamental to plan total thyroidectomy with certainty and should be part of the decision tree for the management of thyroid nodules. 26854757

2016

dbSNP: rs113488022
rs113488022
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation BEFREE The probability of PTC for thyroid nodules with intermediat</span>e-risk (IR) US and atypia of undetermined significance/follicular lesion of undetermined significance (AUS/FLUS) FNAB was significantly dependent on BRAF V600E mutation status based on our prediction table (negative, 29.2% vs positive, 87.5%; P < 0.001). 26020381

2015

dbSNP: rs113488022
rs113488022
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation BEFREE These results indicate that BRAF(V600E) assessment by pyrosequencing is a reliable assay useful to refine inconclusive cytology of thyroid nodules also in the presence of concurrent HT. 23775008

2014

dbSNP: rs113488022
rs113488022
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation BEFREE To evaluate BRAF(V600E) mutation on consecutive fine-needle aspiration biopsy (FNAB) specimens in order to assess FNAB's usefulness in preoperative papillary thyroid carcinoma (PTC) diagnosis with the contemporaneous analysis of RET/PTC1 and RET/PTC3 rearrangements obtained from ex vivo thyroid nodules. 17727338

2007

dbSNP: rs113488022
rs113488022
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation BEFREE To evaluate the role of pre-operative detection of BRAF(V600E) mutation in the FNAB specimens of thyroid nodules in a BRAF(V600E) mutation-prevalent geographical area. 17054470

2006

dbSNP: rs113488022
rs113488022
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation BEFREE Using pyrosequencing and quantitative methylation-specific PCR (Q-MSP) methods, FNABs from 79 and 38 patients with thyroid nodules in training and test groups, respectively, were analyzed for BRAF(V600E) mutation and gene methylation. 24588959

2014

dbSNP: rs113488022
rs113488022
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation BEFREE Value of TIRADS, BSRTC and FNA-BRAF V600E mutation analysis in differentiating high-risk thyroid nodules. 26597052

2015

dbSNP: rs113488022
rs113488022
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation BEFREE We found TERT promoter mutations in 0.0% (0/179) of benign thyroid nodules and 7.0% (9/129) of thyroid nodules of differentiated thyroid cancer, representing a 100% diagnostic specificity and 7.0% sensitivity, with the latter rising to 38.0% (49/129) when combined with BRAF V600E testing. 25121551

2014

dbSNP: rs113488022
rs113488022
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation BEFREE We found that performing BRAF(V600E) mutation analysis on the fine-needle aspiration biopsy specimens was of great help to make a therapeutic decision for thyroid nodules when the fine-needle aspiration biopsy results were equivocal. 21239517

2011

dbSNP: rs113488022
rs113488022
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation BEFREE We recommend that patients with a thyroid nodule with any suspicious sonographic feature undergo preoperative BRAF(V600E) testing for risk stratification and to guide the initial surgical approach in PTC. 25337709

2014