Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.790 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308

2002

dbSNP: rs113488022
rs113488022
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.790 GeneticVariation BEFREE Recently, a V599E hotspot mutation within the BRAF gene was reported in a high percentage of colorectal tumors and significantly associated to defective mismatch repair (MMR). 14668801

2003

dbSNP: rs113488022
rs113488022
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.790 GeneticVariation BEFREE In addition, a significant association between mismatch-repair (MMR) deficiency and the V599E mutation in colorectal tumors has been found. 14654916

2004

dbSNP: rs113488022
rs113488022
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.790 CausalMutation CLINVAR Wild-type BRAF is required for response to panitumumab or cetuximab in metastatic colorectal cancer. 19001320

2008

dbSNP: rs113488022
rs113488022
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.790 GeneticVariation BEFREE Rac1b overexpression and B-Raf(V600E) are significantly associated in primary colorectal tumors (P = .008) and colorectal cell lines. 18602919

2008

dbSNP: rs113488022
rs113488022
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.790 GeneticVariation BEFREE Evaluation of high-resolution melting analysis as a diagnostic tool to detect the BRAF V600E mutation in colorectal tumors. 19213871

2009

dbSNP: rs113488022
rs113488022
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.790 GeneticVariation BEFREE Secondly, considering the alternative possibility, we identified genes whose DNA hypermethylation was closely linked to BRAF(V600E) and CIMP in 235 primary colorectal tumors. 20027224

2009

dbSNP: rs113488022
rs113488022
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.790 CausalMutation CLINVAR Clinical biomarkers in oncology: focus on colorectal cancer. 19537845

2009

dbSNP: rs113488022
rs113488022
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.790 CausalMutation CLINVAR Prognostic and predictive biomarkers in resected colon cancer: current status and future perspectives for integrating genomics into biomarker discovery. 20350999

2010

dbSNP: rs113488022
rs113488022
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.790 CausalMutation CLINVAR Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis. 20619739

2010

dbSNP: rs113488022
rs113488022
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.790 CausalMutation CLINVAR Markers for EGFR pathway activation as predictor of outcome in metastatic colorectal cancer patients treated with or without cetuximab. 20413299

2010

dbSNP: rs113488022
rs113488022
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.790 CausalMutation CLINVAR Prognostic vs predictive molecular biomarkers in colorectal cancer: is KRAS and BRAF wild type status required for anti-EGFR therapy? 21129611

2010

dbSNP: rs113488022
rs113488022
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.790 CausalMutation CLINVAR BRAF as a target for cancer therapy. 21426297

2011

dbSNP: rs113488022
rs113488022
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.790 CausalMutation CLINVAR KRAS, BRAF, PIK3CA, and PTEN mutations: implications for targeted therapies in metastatic colorectal cancer. 21163703

2011

dbSNP: rs113488022
rs113488022
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.790 CausalMutation CLINVAR BRAF V600E mutation and resistance to anti-EGFR monoclonal antibodies in patients with metastatic colorectal cancer: a meta-analysis. 20857202

2011

dbSNP: rs113488022
rs113488022
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.790 CausalMutation CLINVAR Antitumor activity of BRAF inhibitor vemurafenib in preclinical models of BRAF-mutant colorectal cancer. 22180495

2012

dbSNP: rs113488022
rs113488022
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.790 CausalMutation CLINVAR EGFR-mediated re-activation of MAPK signaling contributes to insensitivity of BRAF mutant colorectal cancers to RAF inhibition with vemurafenib. 22448344

2012

dbSNP: rs113488022
rs113488022
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.790 CausalMutation CLINVAR Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial. 22608338

2012

dbSNP: rs113488022
rs113488022
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.790 CausalMutation CLINVAR Unresponsiveness of colon cancer to BRAF(V600E) inhibition through feedback activation of EGFR. 22281684

2012

dbSNP: rs113488022
rs113488022
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.790 CausalMutation CLINVAR Concomitant BRAF and PI3K/mTOR blockade is required for effective treatment of BRAF(V600E) colorectal cancer. 23549875

2013

dbSNP: rs113488022
rs113488022
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.790 GeneticVariation BEFREE To verify the technical characteristics of the microarray system for the correct identification of the KRAS mutational status at the two hotspot codons 12 and 13 and of the BRAF(V600E) mutation in colorectal tumor, we selected 75 samples previously characterized by conventional and CO-amplification at Lower Denaturation temperature-PCR (COLD-PCR) followed by High Resolution Melting analysis and direct sequencing. 23536897

2013

dbSNP: rs113488022
rs113488022
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.790 CausalMutation CLINVAR Resistance to BRAF inhibition in BRAF-mutant colon cancer can be overcome with PI3K inhibition or demethylating agents. 23251002

2013

dbSNP: rs113488022
rs113488022
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.790 CausalMutation CLINVAR A genetic progression model of Braf(V600E)-induced intestinal tumorigenesis reveals targets for therapeutic intervention. 23845441

2013

dbSNP: rs113488022
rs113488022
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.790 CausalMutation CLINVAR Vemurafenib synergizes with nutlin-3 to deplete survivin and suppresses melanoma viability and tumor growth. 23812671

2013

dbSNP: rs113488022
rs113488022
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.790 CausalMutation CLINVAR Our findings indicated that proteasome inhibition might represent a valuable targeting strategy in BRAF V600E-mutant colorectal tumors. 24107445

2013