Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913377
rs121913377
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE The V600E mutation of BRAF was initially described in 2002 and has been found at particularly high frequency in melanoma and certain subtypes of colorectal cancer. 23406774

2013

dbSNP: rs121913377
rs121913377
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Common BRAF(V600E)-directed pathway mediates widespread epigenetic silencing in colorectal cancer and melanoma. 26787892

2016

dbSNP: rs121913377
rs121913377
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Oncogenic Ras, but not (V600E)B-RAF, protects from cholesterol depletion-induced apoptosis through the PI3K/AKT pathway in colorectal cancer cells. 19700418

2009

dbSNP: rs121913377
rs121913377
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Here, we investigate molecular responses upon single and multi-target treatments, over time, using BRAF(V600E) mutant colorectal cancer cells as a model system. 29970458

2018

dbSNP: rs121913377
rs121913377
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE In the context of colorectal cancer, we present a method for constructing a surrogate biomarker that is able to predict with high accuracy whether a sample belongs to the "BRAF-positive" group, a high-risk group comprising V600E BRAF mutants and BRAF-mutant-like tumors. 28523274

2017

dbSNP: rs121913377
rs121913377
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE 3'-Deoxy-3'-18F-fluorothymidine PET predicts response to (V600E)BRAF-targeted therapy in preclinical models of colorectal cancer. 23341544

2013

dbSNP: rs121913377
rs121913377
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE BRAF V600E Mutant Colorectal Cancer Subtypes Based on Gene Expression. 27354468

2017

dbSNP: rs121913377
rs121913377
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Encorafenib, Binimetinib, and Cetuximab in <i>BRAF</i> V600E-Mutated Colorectal Cancer. 31566309

2019

dbSNP: rs121913377
rs121913377
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Alterations in <i>MEK1/2</i> occur in cancers, both in the treatment-naïve state and following targeted therapies, most notably BRAF and MEK inhibitors in <i>BRAF</i>-V600E-mutant melanoma and colorectal cancer. 28655712

2017

dbSNP: rs121913377
rs121913377
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE The V600E mutation does not appear to be associated with microsatellite instability, unlike the case in colorectal cancer. 22246856

2012

dbSNP: rs121913377
rs121913377
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE The US FDA approved a liquid biopsy test for EGFR activating mutations in patients with non-small cell lung cancer (NSCLC) as a companion diagnostic for therapy selection. ctDNA also allows for the identification of mutations selected by treatment such as EGFR T790M in NSCLC. ctDNA can also detect mutations such as KRAS G12V in colorectal cancer and BRAF V600E/V600K in melanoma. 30335711

2018

dbSNP: rs121913377
rs121913377
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Detection of the BRAF V600E Mutation in Colorectal Cancer by NIR Spectroscopy in Conjunction with Counter Propagation Artificial Neural Network. 31208050

2019

dbSNP: rs121913377
rs121913377
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Promoter methylation of Wnt5a is associated with microsatellite instability and BRAF V600E mutation in two large populations of colorectal cancer patients. 21587258

2011

dbSNP: rs121913377
rs121913377
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE The aim of this study is to compare the utility of methylation analysis of MLH1 and BRAF V600E mutations for the selection of patients with MLH1 negative colorectal cancer for genetic testing. 20489114

2010

dbSNP: rs121913377
rs121913377
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Detection of the BRAF V600E mutation in colorectal cancer by immunohistochemistry is a viable alternative to molecular methods. 23650027

2013

dbSNP: rs121913377
rs121913377
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE BRAF was mutated in 7.6% (484 of 6353) of colorectal cancer and 9.1% (29 of 317) of SBA samples, but V600E mutations were much less common in SBA, representing only 10.3% (3 of 29) of BRAF-mutated cases. 28617917

2017

dbSNP: rs121913377
rs121913377
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE This improved classification of serrated lesions including immunohistochemical evaluation of BRAF V600E mutation may be the key to identify lesions with higher potential to progression into sessile serrated adenoma/polyp, and further to BRAF V600E-mutated colorectal cancer. 23887306

2014

dbSNP: rs121913377
rs121913377
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Here, we discuss the current commonly used predictive pharmacogenetic biomarkers in clinical oncology molecular testing: BRAF V600E for vemurafenib in melanoma; EML4-ALK for crizotinib and EGFR for erlotinib and gefitinib in non-small-cell lung cancer; KRAS against the use of cetuximab and panitumumab in colorectal cancer; ERBB2 (HER2/neu) for trastuzumab in breast cancer; BCR-ABL for tyrosine kinase inhibitors in chronic myeloid leukemia; and PML/RARα for all-trans-retinoic acid and arsenic trioxide treatment for acute promyelocytic leukemia. 22845480

2012

dbSNP: rs121913377
rs121913377
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Detection of the V600E hotspot mutation in BRAF oncogene is extremely useful for the screening of hereditary non-polyposis colorectal cancer (Lynch's syndrome) and for the prediction of sensitivity to MEK inhibitors. 18428050

2008

dbSNP: rs121913377
rs121913377
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE An MAFG-containing corepressor complex induces CIMP in BRAF(V600E)-positive colorectal cancer. 25367952

2014

dbSNP: rs121913377
rs121913377
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Clinical Significance of BRAF Non-V600E Mutations in Colorectal Cancer: A Retrospective Study of Two Institutions. 30463788

2018

dbSNP: rs121913377
rs121913377
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE BRAF V600E mutation in colorectal cancer is associated with right-sided tumours and iron deficiency anaemia. 25862899

2015

dbSNP: rs121913377
rs121913377
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Association between methylation in mismatch repair genes, V600E BRAF mutation and microsatellite instability in colorectal cancer patients. 21681432

2012

dbSNP: rs121913377
rs121913377
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE <i>BRAF</i> (v-raf murine sarcoma viral oncogene homolog B1) V600E mutant colorectal cancer is associated with short survival. 30719102

2019

dbSNP: rs121913377
rs121913377
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Distinct BRAF (V600E) and KRAS mutations in high microsatellite instability sporadic colorectal cancer in African Americans. 19190129

2009