rs121913377, BRAF

N. diseases: 480
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 <i>BRAF</i> V600E mutations have been successfully treated with targeted therapy in melanoma, non-small cell lung cancer, and thyroid cancer. 29295876 2018
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE Thyroid neoplasms with PD-L1 expression also ae enriched with BRAF V600E mutations, suggesting that they are associated with more aggressive behavior. 31821747 2020
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE Hence, recent research efforts have been performed trying to explore several inhibitors of the V600E mutation-containing BRAF kinase as potential therapeutic options in thyroid cancer refractory to standard interventions. 30481266 2019
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE A literature search using PubMed identified all the pertinent literature on the identification and utilization of the B-Raf(V600E) mutation in thyroid cancer. 20637346 2010
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE A missense mutation was found at T1796A (V599E) in exon 15 in four of the six cell lines and 51 of 207 thyroid tumors (24.6%; 0 of 20 follicular adenoma, 0 of 11 follicular carcinoma, 49 of 170 papillary carcinomas, and 2 of 6 undifferentiated carcinomas). 12970315 2003
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 According to the literature, our data provide evidence of the BRAF and RAS roles in thyroid tumorigenesis, supporting an association between BRAF (V600E) mutations and the more aggressive clinical and pathological features of thyroid tumors. 29435002 2018
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE Acquired resistance to BRAF inhibition induces epithelial-to-mesenchymal transition in BRAF (V600E) mutant thyroid cancer by c-Met-mediated AKT activation. 27880942 2017
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 After treatment with the potent MEK 1/2 inhibitor AZD6244, MEK inhibition and cell growth were examined in four BRAF mutant (V600E) and two BRAF wild-type thyroid cancer cell lines and in xenografts from a BRAF mutant cell line. 17878251 2007
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE Both the metastasis and the primary thyroid tumor are positive for BRAF(V600E) mutation. 22435913 2012
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE BRAF V600E mutation status was determined in 347 tumor samples from 314 patients with thyroid cancer (245 with conventional papillary thyroid cancer, 73 with follicular thyroid cancer, and 29 with the follicular variant of papillary thyroid cancer). 17717450 2007
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 BRAF provides signals crucial for proliferation of thyroid carcinoma cells spontaneously harboring the (V600E)BRAF mutation and, therefore, BRAF suppression might have therapeutic potential in (V600E)BRAF-positive thyroid cancer. 16533790 2006
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE BRAF(V600E) and microenvironment in thyroid cancer: a functional link to drive cancer progression. 21447745 2011
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 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 c-Met-mediated reactivation of PI3K/AKT signaling contributes to insensitivity of BRAF(V600E) mutant thyroid cancer to BRAF inhibition. 26456083 2016
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE Clinical utility of TERT promoter mutations and ALK rearrangement in thyroid cancer patients with a high prevalence of the BRAF V600E mutation. 26857243 2016
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE Dideoxy sequencing is the most commonly used method for detecting the BRAF(V600E) mutation in thyroid cancer and melanoma. 18462259 2009
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 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 From September 2008 to December 2009, we performed routine analysis of the BRAF(V600E) mutation using thyroid cancer tissue from 424 patients who underwent thyroidectomy with cervical lymph node dissection. 21803329 2012
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE Furthermore, glycolysis-related enzymes, such as LDHA and PKM2, were upregulated in BRAF V600E </span>mutant thyroid cancer specimens, thereby promoting glycolysis. 30768848 2019
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE Genetic alterations occurring in thyroid cancer frequently affect the RAS/RAF/MEK/ERK-pathway such as the oncogenic, kinase-activating BRAF(V600E) mutation. 26892809 2016