rs113488022, BRAF

N. diseases: 490
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE This study also for the first time demonstrates an association of the BRAF(V600E) mutation with TC recurrence in pediatric patients. 26711586 2016
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE Triple combination of PLX4032, SAHA, and TSH is a specific robust regimen to restore RAI avidity in RAI-refractory BRAF V600E-positive thyroid cancer, which warrants clinical trials to confirm. 26751190 2016
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE We performed Sanger sequencing to detect BRAF V600E and TERT promoter mutations and both immunohistochemistry and fluorescence in situ hybridization to identify ALK rearrangement on 243 thyroid cancers. 26857243 2016
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE Evidence has also shown that the detection of the BRAF(V600E) mutation in cancer is crucial in order to identify novel avenues for thyroid cancer treatment.Based on the BRAF kinase structure, novel drugs can potentially be designed to target oncogenic BRAF in cancer therapeutics. 25961545 2015
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE Here, we show that depletion of RAF-1, a RAF family member with a poorly defined role in TC, decreases proliferation and increases apoptosis in TPC-1 cells and, less significantly, in cells harboring a BRAF(V600E) or HRAS(G13R) mutations, but without affecting ERK activation. 26265449 2015
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE Thus, this study on a large cohort of TC patients from Middle East demonstrates that TERT promoter mutations are relatively common, especially in the non-CPTC, and are associated with more aggressive histopathological features, BRAF(V600E) mutation, and disease persistence/recurrence than the WT TERT. 26354077 2015
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE BRAF(V600E) mutation analysis is superior to RAS point mutations and evaluation of RET/PTC rearrangements in the diagnosis of thyroid cancer, even in indeterminate lesions. 25333496 2015
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE BRAF(V600E) mutation is highly prevalent in thyroid carcinomas in the young population in Fukushima: a different oncogenic profile from Chernobyl. 26584635 2015
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE IHC detection of BRAF V600E was performed on various thyroid carcinoma subtypes. 25894433 2015
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE In BRAF V600E mutated thyroid carcinomas, active ERK and active AKT kinase proteins were noted. 26403329 2015
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE Although BRAF(V600E) represents 95% of all BRAF mutations, uncommon BRAF mutations have been identified in thyroid carcinomas. 26230187 2015
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE BRAF(V600E) mutation analysis is a molecular tool in diagnosing thyroid carcinoma. 26597052 2015
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE Fourteen patients with BRAF(V600E)-mutant thyroid carcinoma were enrolled, of whom 13 (93%) had received prior radioactive iodine. 25285888 2015
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE MicroRNA-126 suppresses proliferation of undifferentiated (BRAF(V600E) and BRAF(WT)) thyroid carcinoma through targeting PIK3R2 gene and repressing PI3K-AKT proliferation-survival signalling pathway. 26384552 2015
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE In this work, we attempt to discuss some of the most recent molecular, preclinical and clinical evidence to construct a more exhaustive model of function for the BRAF V600E in development, progression and therapeutic approach of thyroid cancer. 24828987 2015
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE Overexpression of HO-1 in a subset of thyroid cancers is associated with tumour aggressiveness and BRAF V600E expression. 25262966 2015
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE The study identified 7 BRAF-induced genes that are specific for BRAF V600E-driven PTC and not previously reported as related to BRAF mutation or thyroid carcinoma: MMD, ITPR3, AACS, LAD1, PVRL3, ALDH3B1, and RASA1. 26625260 2015
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE In this study we compared drug responses to RAF and MEK inhibitors on tumor cell migration in 2D and 3D culture of BRAF(V600E) mutant cell lines derived from human papillary (BCPAP) and anaplastic (SW1736) thyroid carcinomas. 26384551 2015
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE The aim of this study was to determine whether combined detection of BRAF(V600E) mutation and methylation markers on FNABs could improve the diagnostic accuracy of thyroid cancer. 24588959 2014
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE Our findings not only reveal an epigenetic mechanism for BRAF V600E-promoted NIS silencing involving histone deacetylation at critical regulatory regions of the NIS promoter but also provide further support for our previously proposed combination therapy targeting major signaling pathways and histone deacetylase to restore thyroid gene expression for radioiodine treatment of thyroid cancer. 24243688 2014
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE TERT promoter mutations and their association with BRAF V600E mutation and aggressive clinicopathological characteristics of thyroid cancer. 24617711 2014
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE The most common BRAF mutation in thyroid cancer is c.1799T>A (p.Val600Glu), and other BRAF mutations are rarely reported. 25120313 2014
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE This study investigates the expression of CYP24A1 and the effect of BRAF(V600E) on its expression in thyroid cancer. 24382015 2014
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE BRAF V600E mutational status in pediatric thyroid cancer. 24677749 2014
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE The suboptimal specificity and PPV limits the diagnostic utility of both antibodies to reliably detect BRAF p.V600E mutations in thyroid carcinoma. 24897065 2014