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 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 In the management of thyroid nodules with benign cytology but positive BRAF(V600E) mutation, thyroidectomy should be considered in nodules which have 2 or more suspicious US features and are considered discordant on image-cytology correlation. 25616949

2015

dbSNP: rs113488022
rs113488022
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation BEFREE Clinical implication of highly sensitive detection of the BRAF V600E mutation in fine-needle aspirations of thyroid nodules: a comparative analysis of three molecular assays in 4585 consecutive cases in a BRAF V600E mutation-prevalent area. 22500044

2012

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 Evaluation of the Real-Q BRAF V600E Detection Assay in Fine-Needle Aspiration Samples of Thyroid Nodules. 25937618

2015

dbSNP: rs113488022
rs113488022
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation BEFREE BRAF V600E mutation, common in papillary thyroid carcinoma (PTC), is helpful in fine needle aspiration diagnosis of thyroid nodules and is being evaluated for targeted therapies. 24746198

2014

dbSNP: rs113488022
rs113488022
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation BEFREE BRAF V600E detection is currently used as molecular test to improve the diagnosis of thyroid nodules, yet it lacks sensitivity. 26581891

2015

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 Diagnostic molecular markers, such as RET-PTC, RAS, and BRAF(V600E) mutations; galectin 3; and a new gene expression classifier, are outstanding examples that have improved diagnosis of thyroid nodules. 23668556

2013

dbSNP: rs113488022
rs113488022
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation BEFREE BRAF(T1799A) mutation improves the diagnosis of PTC on FNAB, mainly because of the detection of cytopathology false-negatives, and it can be helpful in the routine analysis of thyroid nodules, especially in clinical settings with moderate sensitivity to detect PTC on FNAB. 22504197

2012

dbSNP: rs113488022
rs113488022
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation BEFREE Detection of BRAF(V600E) in cytology specimens by pyrosequencing is a useful diagnostic adjunctive tool in the evaluation of thyroid nodules also in elderly subjects. 24267957

2013

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 Evaluation of BRAF V600E mutation status combined with cytomorphological features for diagnosis of PTC in cytologically indeterminate thyroid nodules can significantly improve diagnostic accuracy and reduce the number of diagnostic operations (calculator available at www.ptc-calc.we2host.lt). 29566402

2019

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 Seventy-nine of the 504 thyroid nodules had somatic genetic mutations (29 BRAF V600E, 29 NRAS, 8 KRAS, 1 NTRK1, 4 RET/PTC1, and 8 RET/PTC3). 21190444

2011

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 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

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 Diagnostic value of BRAF(V600E) mutation analysis of thyroid nodules according to ultrasonographic features and the time of aspiration. 20945104

2011

dbSNP: rs113488022
rs113488022
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation BEFREE The aim of the study was to determine BRAF T1799A mutation and KRas proto-oncogene mutation, and the analysis of RASSF1A promoter methylation level in cytological material obtained from FNAB specimens of thyroid nodules. 26457492

2015

dbSNP: rs113488022
rs113488022
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation BEFREE Detection of RET/PTC, TRK and BRAF(V600E) in FNAB specimens is proposed as a diagnostic adjunctive tool in the evaluation of thyroid nodules with suspicious cytological findings. 17381488

2007

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 Role of ultrasonographic/clinical profile, cytology, and BRAF V600E mutation evaluation in thyroid nodule screening for malignancy: a prospective study. 22535974

2012

dbSNP: rs113488022
rs113488022
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation BEFREE Testing for BRAF (V600E) Mutation in Thyroid Nodules with Fine-Needle Aspiration (FNA) Read as Suspicious for Malignancy (Bethesda V, Thy4, TIR4): a Systematic Review and Meta-analysis. 31811566

2020

dbSNP: rs113488022
rs113488022
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation BEFREE BRAF(V600E) positivity was a useful marker at thyroid nodules with "suspicious for papillary thyroid carcinoma" or "inadequate" cytological result. 19672964

2010