Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE High prevalence of deficient mismatch repair phenotype and the V600E BRAF mutation in elderly patients with colorectal cancer. 25176643

2014

dbSNP: rs113488022
rs113488022
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE High-frequency microsatellite instability and BRAF mutation (V600E) in unselected Serbian patients with colorectal cancer. 22210186

2012

dbSNP: rs113488022
rs113488022
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Identification and Characterization of Small-Molecule Inhibitors to Selectively Target the DFG-in over the DFG-out Conformation of the B-Raf Kinase V600E Mutant in Colorectal Cancer. 27624806

2016

dbSNP: rs113488022
rs113488022
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE In addition, the combination of microsatellite instability testing, MLH1 promoter methylation analysis, and BRAF (V600E) mutation analysis can distinguish a sporadic colorectal cancer from one associated with HNPCC, helping to avoid costly molecular genetic testing for germline mutations in mismatch repair genes. 18556776

2008

dbSNP: rs113488022
rs113488022
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE In conclusion, miR-145 might be used as a therapeutic target in the treatment of colorectal cancer patients with BRAF V600E mutation. 24248543

2014

dbSNP: rs113488022
rs113488022
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: rs113488022
rs113488022
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Non-V600E BRAF mutations and EGFR signaling pathway in colorectal cancer. 30963570

2019

dbSNP: rs113488022
rs113488022
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: rs113488022
rs113488022
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Optimizing targeted therapeutic development: analysis of a colorectal cancer patient population with the BRAF(V600E) mutation. 20635392

2011

dbSNP: rs113488022
rs113488022
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Previous studies have reported that rafoxanide, as an inhibitor of BRAF V600E mutant protein, inhibits the growth of colorectal cancer, multiple myeloma, and skin cancer. 31678170

2019

dbSNP: rs113488022
rs113488022
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Prognostic value of BRAF V600E mutation and microsatellite instability in Japanese patients with sporadic colorectal cancer. 27672042

2017

dbSNP: rs113488022
rs113488022
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: rs113488022
rs113488022
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Real-time polymerase chain reaction identifies the most common BRAF mutation, V600E, in frozen or paraffin-embedded colorectal cancer tissue. 20670148

2010

dbSNP: rs113488022
rs113488022
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Somatic BRAF-V600E mutations in familial colorectal cancer. 17119056

2006

dbSNP: rs113488022
rs113488022
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: rs113488022
rs113488022
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: rs113488022
rs113488022
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: rs113488022
rs113488022
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE The aim of this study was to relate the CpG island methylator phenotype (CIMP; characterized by extensive promoter hypermethylation) to cancer-specific survival in colorectal cancer, taking into consideration relevant clinicopathologic factors, such as microsatellite instability (MSI) screening status and the BRAF V600E mutation. 20197478

2010

dbSNP: rs113488022
rs113488022
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE The detection of a positive BRAF-V600E mutation in a colorectal cancer suggests a sporadic origin of the disease and the absence of germline alterations of MLH1, MSH2 and also of MSH6. 15782118

2005

dbSNP: rs113488022
rs113488022
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: rs113488022
rs113488022
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE The US Food and Drug Administration approved a liquid biopsy test for EGFR-activating mutations in patients with non-small-cell lung cancer as a companion diagnostic for therapy selection. ctDNA also allows for the identification of mutations selected by treatment such as EGFR T790M in non-small-cell lung cancer. ctDNA can also detect mutations such as KRAS G12V in colorectal cancer and BRAF V600E/V600K in melanoma. 30883505

2019

dbSNP: rs113488022
rs113488022
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE These findings support BGB-283 as a potent antitumor drug candidate with clinical potential for treating colorectal cancer harboring BRAF(V600E) mutation. 26208524

2015

dbSNP: rs113488022
rs113488022
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE These results seem to indicate that Cdx2 may play a role in the serrated pathway to colorectal cancer as underlined by strong relationships with BRAF(V600E), CIMP-high and MMR-deficiency. 24166180

2014

dbSNP: rs113488022
rs113488022
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: rs113488022
rs113488022
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Thus, large-scale KRAS mutation screening is needed for efficient patient management and in the future metastatic colorectal cancer genotyping might also include the detection of the BRAF V600E mutation, which is a very strong negative prognostic factor in colorectal cancer. 21516079

2011