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
0.790 GeneticVariation BEFREE The major aim of this study was to evaluate the performance of anti-BRAF V600E (VE1) antibody in colorectal tumors with and without KRAS mutation. 29127628

2019

dbSNP: rs113488022
rs113488022
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.790 GeneticVariation BEFREE BRAF V600E mutation testing of colorectal tumors demonstrating aberrant MLH1 protein expression by IHC was the most common secondary tumor test, with 53% of laboratories performing the test; 15% of laboratories also applied the BRAF V600E test to endometrial tumors with aberrant MLH1 expression despite no evidence for its utility. 30294856

2018

dbSNP: rs113488022
rs113488022
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.790 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs113488022
rs113488022
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.790 CausalMutation CLINVAR Meta-analysis of BRAF mutation as a predictive biomarker of benefit from anti-EGFR monoclonal antibody therapy for RAS wild-type metastatic colorectal cancer. 25989278

2015

dbSNP: rs113488022
rs113488022
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.790 GeneticVariation BEFREE Our results support the use of VE1 IHC for identification of colorectal neoplasms harboring the BRAF V600E mutation. 25517872

2015

dbSNP: rs113488022
rs113488022
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.790 CausalMutation CLINVAR mTOR inhibition specifically sensitizes colorectal cancers with KRAS or BRAF mutations to BCL-2/BCL-XL inhibition by suppressing MCL-1. 24163374

2014

dbSNP: rs113488022
rs113488022
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.790 CausalMutation CLINVAR BRAFV600E mutation and its association with clinicopathological features of colorectal cancer: a systematic review and meta-analysis. 24594804

2014

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

dbSNP: rs113488022
rs113488022
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.790 CausalMutation CLINVAR Massively parallel tumor multigene sequencing to evaluate response to panitumumab in a randomized phase III study of metastatic colorectal cancer. 23325582

2013

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 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 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