Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
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: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
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
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
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
dbSNP: rs113488022
rs113488022
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Somatic BRAF-V600E mutations in familial colorectal cancer. 17119056 2006
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Somatic BRAF-V600E mutations in familial colorectal cancer. 17119056 2006
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
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
dbSNP: rs113488022
rs113488022
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
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: rs113488022
rs113488022
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
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
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
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
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
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
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
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: rs113488022
rs113488022
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
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: rs113488022
rs113488022
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
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
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
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
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
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
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
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
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
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
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
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: rs113488022
rs113488022
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
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
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
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
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
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
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
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
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
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
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
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
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
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