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 High prevalence of deficient mismatch repair phenotype and the V600E BRAF mutation in elderly patients with colorectal cancer. 25176643

2014

dbSNP: rs121913377
rs121913377
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: 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 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 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 Family history of colorectal cancer in BRAF p.V600E-mutated colorectal cancer cases. 23462926

2013

dbSNP: rs121913377
rs121913377
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Concomitant BRAF and PI3K/mTOR blockade is required for effective treatment of BRAF(V600E) colorectal cancer. 23549875

2013

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 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 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 High-frequency microsatellite instability and BRAF mutation (V600E) in unselected Serbian patients with colorectal cancer. 22210186

2012

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 Optimizing targeted therapeutic development: analysis of a colorectal cancer patient population with the BRAF(V600E) mutation. 20635392

2011

dbSNP: rs121913377
rs121913377
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

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 Real-time polymerase chain reaction identifies the most common BRAF mutation, V600E, in frozen or paraffin-embedded colorectal cancer tissue. 20670148

2010

dbSNP: rs121913377
rs121913377
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: 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 Distinct BRAF (V600E) and KRAS mutations in high microsatellite instability sporadic colorectal cancer in African Americans. 19190129

2009

dbSNP: rs121913377
rs121913377
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE CIMP-specific inactivation of BRAF(V600E)-induced senescence and apoptosis pathways by IGFBP7 DNA hypermethylation might create a favorable context for the acquisition of BRAF(V600E) in CIMP+ colorectal cancer. 20027224

2009

dbSNP: rs121913377
rs121913377
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE BRAF V600E is the predominantly occurring mutation of the cytoplasmic kinase BRAF, and, in colorectal cancer, its determination provides a diagnostic exclusion criterion for hereditary nonpolyposis colorectal cancer. 19213871

2009

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 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: rs121913377
rs121913377
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Somatic BRAF-V600E mutations in familial colorectal cancer. 17119056

2006

dbSNP: rs121913377
rs121913377
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Detection of BRAF V600E mutation in colorectal cancer: comparison of automatic sequencing and real-time chemistry methodology. 17065421

2006