Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation disease BEFREE Cytomorphologic features in thyroid nodules read as "suspicious for malignancy" on cytology may predict thyroid cancers with the BRAF mutation. 26187369 2015
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation disease BEFREE We strongly recommend preoperative evaluation of the BRAF V600E mutation in indeterminate thyroid nodules. 26020381 2015
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation disease BEFREE Herein, we tested 294 consecutive FNA samples from patients with thyroid nodules with the Real-Q BRAF V600E detection assay (Real-Q). 25937618 2015
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation disease BEFREE Our aims were to evaluate the diagnostic utility of assessing the presence of BRAF and RAS mutations and RET/PTC1 and RET/PTC3 rearrangements in all cytological categories in an Italian group of thyroid nodule patients assessed prospectively, and to understand whether and which mutation testing might be helpful in cytologically indeterminate nodules. 25333496 2015
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation disease BEFREE In combination with BRAF mutation analysis, this predictive score closely correlated with the clinicopathological characteristics of the analyzed thyroid nodules. 25868389 2015
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation disease BEFREE CNB+BRAF(V600E) did not show significantly better diagnostic performance than CNB alone in thyroid nodules with previous AUS/FLUS results. 25978151 2015
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation disease BEFREE BRAF V600E detection is currently used as molecular test to improve the diagnosis of thyroid nodules, yet it lacks sensitivity. 26581891 2015
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation disease BEFREE Therefore, we investigated the role of the BRAF(V600E) mutation as an additional study to cytology in diagnosing a thyroid nodule without suspicious US features. 24452872 2014
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation disease BEFREE For example, the analysis of BRAF, RAS and other mutations in cytological samples may help to distinction between follicular thyroid carcinoma and follicular thyroid adenoma and may significantly decrease the number of unnecessary surgery among patients with thyroid nodules. 24908232 2014
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation disease BEFREE BRAF(V600E) assessment by pyrosequencing in fine needle aspirates of thyroid nodules with concurrent Hashimoto's thyroiditis is a reliable assay. 23775008 2014
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation disease 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
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation disease 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
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation disease 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
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 Biomarker disease BEFREE The BRAF assay was fully characterized by using plasmids and genomic DNA extracted from cell lines, metastatic colorectal cancer formalin-fixed, paraffin-embedded (FFPE) tissues, and thyroid nodule fine-needle aspirates. 23808402 2014
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation disease BEFREE The application of BRAF exon 15 analysis showed limitations when applied to discriminate thyroid nodules with indeterminate cytology if wild-type BRAF is found, and there is no role for avoiding diagnostic thyroid surgery. 25194426 2014
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation disease 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
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation disease BEFREE We conducted a systematic review to evaluate the diagnostic value of testing for B-RAF(V600E) in thyroid nodules that are difficult to diagnose by FNA. 24167125 2014
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation disease 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
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation disease 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
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation disease BEFREE In thyroid nodule fine-needle aspiration (FNA) cytology, the atypia of undetermined significance or follicular lesion of undetermined significance (AUS/FLUS) category has a 5-15% malignancy risk that increases to 85-99% when mutation testing for BRAF, RAS, RET/PTC, or PAX8/PPARγ is positive. 24074409 2013
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation disease 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
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation disease 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
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation disease 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
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation disease 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
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation disease 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