rs113488022, BRAF

N. diseases: 490
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.790 CausalMutation CLINVAR A genetic progression model of Braf(V600E)-induced intestinal tumorigenesis reveals targets for therapeutic intervention. 23845441 2013
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.790 CausalMutation CLINVAR Antitumor activity of BRAF inhibitor vemurafenib in preclinical models of BRAF-mutant colorectal cancer. 22180495 2012
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.790 GeneticVariation BEFREE BRAF V600E mutation testing of colorectal tumors demonstrating aberrant MLH1 protein expression by IHC was the most common secondary tumor test, with 53% of laboratories performing the test; 15% of laboratories also applied the BRAF V600E test to endometrial tumors with aberrant MLH1 expression despite no evidence for its utility. 30294856 2018
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.790 CausalMutation CLINVAR BRAF as a target for cancer therapy. 21426297 2011
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.790 CausalMutation CLINVAR BRAF V600E mutation and resistance to anti-EGFR monoclonal antibodies in patients with metastatic colorectal cancer: a meta-analysis. 20857202 2011
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.790 CausalMutation CLINVAR BRAFV600E mutation and its association with clinicopathological features of colorectal cancer: a systematic review and meta-analysis. 24594804 2014
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.790 CausalMutation CLINVAR Clinical biomarkers in oncology: focus on colorectal cancer. 19537845 2009
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.790 CausalMutation CLINVAR Concomitant BRAF and PI3K/mTOR blockade is required for effective treatment of BRAF(V600E) colorectal cancer. 23549875 2013
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.790 CausalMutation CLINVAR Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial. 22608338 2012
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.790 CausalMutation CLINVAR Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis. 20619739 2010
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.790 CausalMutation CLINVAR EGFR-mediated re-activation of MAPK signaling contributes to insensitivity of BRAF mutant colorectal cancers to RAF inhibition with vemurafenib. 22448344 2012
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.790 GeneticVariation BEFREE Evaluation of high-resolution melting analysis as a diagnostic tool to detect the BRAF V600E mutation in colorectal tumors. 19213871 2009
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.790 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.790 GeneticVariation BEFREE In addition, a significant association between mismatch-repair (MMR) deficiency and the V599E mutation in colorectal tumors has been found. 14654916 2004
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.790 CausalMutation CLINVAR KRAS, BRAF, PIK3CA, and PTEN mutations: implications for targeted therapies in metastatic colorectal cancer. 21163703 2011
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.790 CausalMutation CLINVAR Markers for EGFR pathway activation as predictor of outcome in metastatic colorectal cancer patients treated with or without cetuximab. 20413299 2010
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.790 CausalMutation CLINVAR Massively parallel tumor multigene sequencing to evaluate response to panitumumab in a randomized phase III study of metastatic colorectal cancer. 23325582 2013
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.790 CausalMutation CLINVAR Meta-analysis of BRAF mutation as a predictive biomarker of benefit from anti-EGFR monoclonal antibody therapy for RAS wild-type metastatic colorectal cancer. 25989278 2015
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.790 CausalMutation CLINVAR mTOR inhibition specifically sensitizes colorectal cancers with KRAS or BRAF mutations to BCL-2/BCL-XL inhibition by suppressing MCL-1. 24163374 2014
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.790 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308 2002
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.790 CausalMutation CLINVAR Our findings indicated that proteasome inhibition might represent a valuable targeting strategy in BRAF V600E-mutant colorectal tumors. 24107445 2013
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.790 GeneticVariation BEFREE Our results support the use of VE1 IHC for identification of colorectal neoplasms harboring the BRAF V600E mutation. 25517872 2015
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.790 CausalMutation CLINVAR Prognostic and predictive biomarkers in resected colon cancer: current status and future perspectives for integrating genomics into biomarker discovery. 20350999 2010
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.790 CausalMutation CLINVAR Prognostic vs predictive molecular biomarkers in colorectal cancer: is KRAS and BRAF wild type status required for anti-EGFR therapy? 21129611 2010
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.790 GeneticVariation BEFREE Rac1b overexpression and B-Raf(V600E) are significantly associated in primary colorectal tumors (P = .008) and colorectal cell lines. 18602919 2008