rs113488022, BRAF

N. diseases: 490
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE Given the strong genotype:phenotype correlation known to be present in thyroid cancer, the separation of BRAF(V600E)-like and RAS-like tumors has profound implications for its classification, especially the follicular variant of papillary carcinoma. 26569424 2016
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE By RT-PCR we evaluated the relative levels of 15 microRNAs (miR-221, -222, -146b, -181b, -21, -187, -199b, -144, -192, -200a, -200b, -205, -141, -31, -375) and the presence of BRAF(V600E) mutation and RET-PTC1 translocation in surgically resected lesions from 208 patients from Novosibirsk oblast (Russia) with different types of thyroid neoplasms. 26960768 2016
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE Thus, TERT with promoter mutations represents a prominent new oncogene in thyroid cancer and the mutations are promising new diagnostic and prognostic genetic markers for thyroid cancer, which, in combination with BRAF V600E mutation or other genetic markers (e.g. 26733501 2016
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE Expression of haem oxygenase-1 correlates with tumour aggressiveness and BRAF V600E expression in thyroid cancer. 25262966 2015
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE Additionally, somatic p.V600E BRAF mutations were also detected in the thyroid tumors of two members of the family carrying the p.A248G variant. 25381600 2015
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
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 Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
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 Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
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 Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
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 Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
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 Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE In conclusion, our study showed a high implication of TSHR gene methylation and its significant association with BRAF V600E mutation in thyroid tumors, depicting a positive connection between TSHR pathway and MAP Kinase pathway. 24927793 2014
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
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 Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE PCCl3 rat thyroid cells, PCCl3 cells overexpressing BRAF(V600E), or primary cultured tumor cells from a thyroid cancer mouse model, under TSH stimulation were treated with various reagents for 24 hours. 24400871 2014
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE BRAF V600E mutational status in pediatric thyroid cancer. 24677749 2014
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE Overall, BRAF(V600E) PTC tumors display a broadly immunosuppressive profile and evidence of disturbed host tumor immune surveillance that may contribute to the poorer outcomes observed in this subset of patients with thyroid cancer. 24955518 2014
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
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 Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE The aim of the study was to explore TERT promoter mutations in various thyroid tumors and examine their relationship with BRAF V600E mutation, iodine intake, and clinicopathological behaviors of thyroid cancer. 24617711 2014
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
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 Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE Treatment of the most resistant cell line, 8505c, using lexatumumab in combination with the BRAF(V600E) inhibitor, PLX4720, and the PI3K inhibitor, LY294002, (triple-drug combination) sensitizes the cells by triggering both the extrinsic and intrinsic apoptotic pathways in vitro as well as 8505c orthotopic thyroid tumors in vivo. 24603332 2014
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
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 Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE The BRAF V600E mutation is the most common genetic alteration in thyroid cancer. 25266729 2014
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE In thyroid neoplasms, mutation of the BRAF gene occurs rather exclusively in papillary thyroid carcinoma (PTC) and results in>98% of the cases in V600E amino acid substitution. 24039206 2014
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE According to our experimental results, the panel including cf-DNA, SLC5A8 and SLC26A4 hypermethylation, and BRAF(V600E) analysis appears easy, reproducible, and non-invasive for the diagnosis on TC. 23931930 2013
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE Second, homogeneous staining occurs in the vast majority of cases, demonstrating that the BRAF(T1799A) mutation is a clonal event in thyroid cancer. 23775351 2013
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE These results reveal a novel (V600E)BRAF-induced mechanism in thyroid tumours progression and provides a rationale for using the PLX4720 inhibitor to target (V600E)BRAF signalling to effectively control progression of thyroid cancer. 23435375 2013