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 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 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
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 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 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 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 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 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
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 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
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 Evaluation of the Anyplex BRAF V600E real-time detection assay using dual-priming oligonucleotide technology in fine-needle aspirates of thyroid nodules. 26354351

2015

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 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
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation BEFREE For thyroid nodules that were diagnosed cytologically as suspicious for papillary thyroid cancer, univariate pooled sensitivity using FNA and BRAF(V600E) results was 52% (95% confidence interval, 39%-64%). 26232865

2015

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 Initial clinical experience with BRAF(V600E) mutation analysis of core-needle biopsy specimens from thyroid nodules. 26215382

2016

dbSNP: rs113488022
rs113488022
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation BEFREE Of the 56 previous AUS result thyroid nodules with surgical management, BRAF(V600E) mu</span>tation analysis led to therapeutic surgery in 5.4% by decreasing unnecessary diagnostic surgery. 25978151

2015

dbSNP: rs113488022
rs113488022
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation BEFREE One hundred and fifty-three thyroid samples obtained by FNA of thyroid nodules from 151 patients were subjected to the analysis of BRAF V600E mutation by direct sequencing. 25194426

2014

dbSNP: rs113488022
rs113488022
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
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
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 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 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 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