rs121913377, BRAF

N. diseases: 480
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.100 GeneticVariation BEFREE Immunohistochemistry with Anti-BRAF V600E (VE1) Mouse Monoclonal Antibody is a Sensitive Method for Detection of the BRAF V600E Mutation in Colon Cancer: Evaluation of 120 Cases with and without KRAS Mutation and Literature Review. 29127628 2019
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.100 GeneticVariation BEFREE A colon cancer cell line with RNF43-G659Vfs*41 and BRAF-V600E mutations was sensitive to activation of Wnt/β-catenin signaling. 31811196 2019
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.100 GeneticVariation BEFREE Vemurafenib is a B-Raf V600E inhibitor that exerts significant inhibitory effects in melanoma but not in colon cancer, and the mechanism of vemurafenib resistance remains unclear. 30872078 2019
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.100 GeneticVariation BEFREE Our results highlight the need to evaluate the action of glucocorticoid on cancer progression in melanoma, thyroid and colon carcinoma in which B-RAF-V600E is a frequent oncogene, and cancers in which evasion from senescence has been shown. 31371485 2019
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.100 GeneticVariation BEFREE Long term response on Regorafenib in non-V600E BRAF mutated colon cancer: a case report. 31185985 2019
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.100 GeneticVariation BEFREE Colon carcinoma BRAF V600E HT29 cells exhibited poor response to radiation compared to BRAF wild-type COLO320 and HCT116 cells. 29663854 2018
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.100 GeneticVariation BEFREE However, the cluster drawn by the two mutations of V600E and E542K showed that all samples with those mutations belonged to the right-sided colon cancer group. 29556349 2018
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.100 GeneticVariation BEFREE In 212 RAS wild-type patients, V600E mutation was higher in older patients (9.5% vs. 2.2%, p=0.017), women (9.2% vs. 2.2%, p=0.021) and right-sided CRCs (10.5% vs. 3.4%, p=0.06). dMMR was detected in 7.75% of all stages of CRCs, with the highest dMMR rate of 40% in stage II right-sided colon cancer. 28416767 2017
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.100 GeneticVariation BEFREE The mutational status of KRAS and BRAF(V600E) oncogenes combined with analysis of the DNA mismatch repair system with/without the CpG island methylator phenotype (CIMP) has been shown to identify colon cancer subtypes with distinct clinical features and prognoses. 26872400 2016
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.100 GeneticVariation BEFREE The BRAF V600E mutation is reportedly associated with inferior survival among colon cancer patients. 25636897 2015
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.100 GeneticVariation BEFREE BRAF (V600E) and KRAS mutations were analyzed in node-positive colon cancer patients (n = 3305) treated with FOLFOX-based chemotherapy in an adjuvant trial (Alliance N0147). 26160882 2015
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.100 GeneticVariation BEFREE We reproducibly associate higher expression of the ligand-receptor axis of TFF2 and CXCR4 with BRAF V600E-mutant colon cancer (P = 3.0 × 10(-3) and 0.077, respectively for TCGA; P = 3.0 × 10(-8) and 5.1 × 10(-7) for CIT). 25899003 2015
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.100 GeneticVariation BEFREE In conclusion, our findings suggest that targeting ErbB-3 receptors could represent an effective therapeutic approach in BRAF-V600E mutant colon cancer. 26160848 2015
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.100 GeneticVariation BEFREE BRAF V600E was associated with advanced TNM (P < 0.001), more distant metastases (P = 0.025), and worse overall survival (OS, P < 0.001; multivariate HR = 4.2, P = 0.004) in colon cancer patients. 25367198 2014
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.100 GeneticVariation BEFREE MSI and the BRAF(V600E) mutation have a prognostic impact in colon cancer. 24964758 2014
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.100 GeneticVariation BEFREE Detection of the BRAF V600E mutation in colon carcinoma: critical evaluation of the imunohistochemical approach. 24832158 2014
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.100 GeneticVariation BEFREE KRAS and BRAF (V600E) mutations are important predictive and prognostic markers, respectively, in colon cancer, but little is known about patient and clinical factors associated with them. 24925349 2014
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.100 GeneticVariation BEFREE The clinical studies in the manuscript by Al-Marrawi et al. describe the rational combination of signaling inhibitors in a colon cancer patient whose tumor cells express a mutant active B-RAF V600E protein that signals into the MEK1/2-ERK1/2 pathway downstream of K-RAS; this is a particularly aggressive form of colon cancer for which few rational therapeutic interventions have been available until recent times. 24025253 2013
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.100 GeneticVariation BEFREE Sorafenib and cetuximab therapy led to a mixed radiographic response with some areas showing dramatic improvement and other areas showing stable disease over a 7-month period which is a notably long period of progression-free survival for V600E BRAF mutated colon cancer. 23792568 2013
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.100 GeneticVariation BEFREE Herein, we present the case of a patient with bulky V600E-mutant BRAF hepatic flexure colon carcinoma, treated initially with FOLFOX plus bevacizumab neoadjuvant therapy and surgery. 23792567 2013
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.100 GeneticVariation BEFREE Female patients and older group harbored a higher KRAS mutation (P = 0.018 and P = 0.031, respectively); BRAF (V600E) mutation showed a higher frequency in colon cancer and poor differentiation tumors (P = 0.020 and P = 0.030, respectively); proximal tumors appeared a higher PIK3CA mutation (P<0.001) and distant metastatic tumors shared a higher NRAS mutation (P = 0.010). 24339949 2013
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.100 GeneticVariation BEFREE A set of 668 stage II and III CC samples from the PETACC-3 (Pan-European Trails in Alimentary Tract Cancers) clinical trial were used to assess differential gene expression between c.1799T>A (p.V600E) BRAF mutant and non-BRAF, non-KRAS mutant cancers (double wild type) and to construct a gene expression-based classifier for detecting BRAF mutant samples with high sensitivity. 22393095 2012
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.100 GeneticVariation BEFREE However, this same agent does not generally benefit colon cancer patients who have the BRAF(V600E) mutation. 23074264 2012
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.100 GeneticVariation BEFREE Unresponsiveness of colon cancer to BRAF(V600E) inhibition through feedback activation of EGFR. 22281684 2012
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.100 GeneticVariation BEFREE In microsatellite stable tumors, homozygous carriers of the G39E polymorphism had an increased risk of CIMP+ colon cancer (odds ratio (OR) 2.2, 95% confidence interval (CI) 1.1, 4.2) and BRAF V600E mutation (OR 3.1, 95% CI 1.01, 9.7) in a case-control comparison. 19582761 2009