rs121913377, BRAF

N. diseases: 480
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Thyroid Nodule
CUI: C0040137
Disease: 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
Thyroid Nodule
CUI: C0040137
Disease: 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
Thyroid Nodule
CUI: C0040137
Disease: 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
Thyroid Nodule
CUI: C0040137
Disease: Thyroid Nodule
0.100 GeneticVariation BEFREE Initial clinical experience with BRAF(V600E) mutation analysis of core-needle biopsy specimens from thyroid nodules. 26215382 2016
Thyroid Nodule
CUI: C0040137
Disease: 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
Thyroid Nodule
CUI: C0040137
Disease: 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
Thyroid Nodule
CUI: C0040137
Disease: Thyroid Nodule
0.100 GeneticVariation BEFREE Value of TIRADS, BSRTC and FNA-BRAF V600E mutation analysis in differentiating high-risk thyroid nodules. 26597052 2015
Thyroid Nodule
CUI: C0040137
Disease: 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
Thyroid Nodule
CUI: C0040137
Disease: 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
Thyroid Nodule
CUI: C0040137
Disease: 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
Thyroid Nodule
CUI: C0040137
Disease: 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
Thyroid Nodule
CUI: C0040137
Disease: 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
Thyroid Nodule
CUI: C0040137
Disease: 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
Thyroid Nodule
CUI: C0040137
Disease: 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
Thyroid Nodule
CUI: C0040137
Disease: 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
Thyroid Nodule
CUI: C0040137
Disease: 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
Thyroid Nodule
CUI: C0040137
Disease: 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
Thyroid Nodule
CUI: C0040137
Disease: 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
Thyroid Nodule
CUI: C0040137
Disease: 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
Thyroid Nodule
CUI: C0040137
Disease: 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
Thyroid Nodule
CUI: C0040137
Disease: 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
Thyroid Nodule
CUI: C0040137
Disease: 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
Thyroid Nodule
CUI: C0040137
Disease: 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
Thyroid Nodule
CUI: C0040137
Disease: 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
Thyroid Nodule
CUI: C0040137
Disease: 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