Source: CLINVAR

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 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 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 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 Mutations of the BRAF gene in human cancer. 12068308

2002

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 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 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 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 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 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 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 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 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
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 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 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 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
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 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
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 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 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 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 BRAFV600E mutation and its association with clinicopathological features of colorectal cancer: a systematic review and meta-analysis. 24594804

2014

dbSNP: rs121913343
rs121913343
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016