Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.100 GeneticVariation BEFREE Most BRAF (V600E) mutant melanomas are sensitive to selective BRAF inhibitors, but BRAF mutant colon cancers are intrinsically resistant to these drugs because of feedback activation of EGFR. 26365186

2015

dbSNP: rs113488022
rs113488022
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.100 GeneticVariation BEFREE KRAS and BRAF (V600E) mutations are important predictive and prognostic markers, respectively, in colon cancer, but little is known about patient and clinical factors associated with them. 24925349

2014

dbSNP: rs113488022
rs113488022
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.100 GeneticVariation BEFREE MSI and the BRAF(V600E) mutation have a prognostic impact in colon cancer. 24964758

2014

dbSNP: rs113488022
rs113488022
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.100 GeneticVariation BEFREE The prevalence of BRAF(V600E) was considerably higher in older (age > 70) females with KRAS wild-type right-sided colon cancers (50%) compared to the unselected cohort (10%). 20635392

2011

dbSNP: rs113488022
rs113488022
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.100 GeneticVariation BEFREE Colon cancers carrying BRAF V600E and β-catenin T41A activating mutations are resistant to numerous common anticancer drugs. 29541216

2018

dbSNP: rs113488022
rs113488022
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.100 GeneticVariation BEFREE Immunohistochemistry with Anti-BRAF V600E (VE1) Mouse Monoclonal Antibody is a Sensitive Method for Detection of the BRAF V600E Mutation in Colon Cancer: Evaluation of 120 Cases with and without KRAS Mutation and Literature Review. 29127628

2019

dbSNP: rs113488022
rs113488022
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.100 GeneticVariation BEFREE BRAF V600E was associated with advanced TNM (P < 0.001), more distant metastases (P = 0.025), and worse overall survival (OS, P < 0.001; multivariate HR = 4.2, P = 0.004) in colon cancer patients. 25367198

2014

dbSNP: rs113488022
rs113488022
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.100 GeneticVariation BEFREE The clinical studies in the manuscript by Al-Marrawi et al. describe the rational combination of signaling inhibitors in a colon cancer patient whose tumor cells express a mutant active B-RAF V600E protein that signals into the MEK1/2-ERK1/2 pathway downstream of K-RAS; this is a particularly aggressive form of colon cancer for which few rational therapeutic interventions have been available until recent times. 24025253

2013

dbSNP: rs113488022
rs113488022
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.100 GeneticVariation BEFREE Our data suggest that BRAF(V600E) mutant colon cancers (approximately 8-10% of all colon cancers), for which there are currently no targeted treatment options available, might benefit from combination therapy consisting of BRAF and EGFR inhibitors. 22281684

2012

dbSNP: rs113488022
rs113488022
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.100 GeneticVariation BEFREE In 212 RAS wild-type patients, V600E mutation was higher in older patients (9.5% vs. 2.2%, p=0.017), women (9.2% vs. 2.2%, p=0.021) and right-sided CRCs (10.5% vs. 3.4%, p=0.06). dMMR was detected in 7.75% of all stages of CRCs, with the highest dMMR rate of 40% in stage II right-sided colon cancer. 28416767

2017