Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
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
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
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
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

dbSNP: rs113488022
rs113488022
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
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
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
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
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
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
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
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
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
0.100 GeneticVariation BEFREE Preoperative BRAF(V600E) mutation screening is unlikely to alter initial surgical treatment of patients with indeterminate thyroid nodules: a prospective case series of 960 patients. 23280049

2013

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Does addition of BRAF V600E mutation testing modify sensitivity or specificity of the Afirma Gene Expression Classifier in cytologically indeterminate thyroid nodules? 23476074

2013

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Follow-up BRAF(V600E) mutation analysis may be helpful in the diagnosis of selected thyroid nodules negative for BRAF(V600E) mutation on initial analysis, which are assessed as suspicious malignant on US, diagnosed as non-diagnostic, benign or atypia on follow-up US-FNA. 23505540

2013

dbSNP: rs113488022
rs113488022
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
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
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
0.100 GeneticVariation BEFREE Diagnostic value of B-RAF(V600E) in difficult-to-diagnose thyroid nodules using fine-needle aspiration: systematic review and meta-analysis. 24167125

2014

dbSNP: rs113488022
rs113488022
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
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
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
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
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