rs397517132, EGFR

N. diseases: 48
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.100 GeneticVariation BEFREE This study aimed to determine whether V600E mutant and wild type BRAF colorectal cancers exhibit distinct sensitivities to the dual BRAF inhibitor AZ304. 29755114 2018
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Here, we investigate molecular responses upon single and multi-target treatments, over time, using BRAF(V600E) mutant colorectal cancer cells as a model system. 29970458 2018
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE Accordingly, the combination of MEK inhibitor with EGFR inhibitor was effective at shrinking tumors in mouse model of BRAF non-V600E mutant lung cancer. 29348459 2018
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE Non-V600E mutant-type showed better OS than V600E mutant-type (P = 0.038), with no significant difference compared with wild-type tumors. 30463788 2018
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.100 GeneticVariation BEFREE Here, we investigate molecular responses upon single and multi-target treatments, over time, using BRAF(V600E) mutant colorectal cancer cells as a model system. 29970458 2018
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE A quarter of tumors had a driver oncogene identified (EGFR/ALK/ROS1/BRAF V600E) with an approved oral targeted therapy, with the highest prevalence in those patients with no or light (≤15 pack-years) history of tobacco use. 29413057 2018
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Clinical Significance of BRAF Non-V600E Mutations in Colorectal Cancer: A Retrospective Study of Two Institutions. 30463788 2018
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.100 GeneticVariation BEFREE The US FDA approved a liquid biopsy test for EGFR activating mutations in patients with non-small cell lung cancer (NSCLC) as a companion diagnostic for therapy selection. ctDNA also allows for the identification of mutations selected by treatment such as EGFR T790M in NSCLC. ctDNA can also detect mutations such as KRAS G12V in colorectal cancer and BRAF V600E/V600K in melanoma. 30335711 2018
melanoma
CUI: C0025202
Disease: melanoma
0.100 GeneticVariation BEFREE RNA-seq data was downloaded from the Gene Expression Omnibus (GEO) database for pre- and post-treatment tumor samples from three melanoma patients with EGFR-activating BRAF V600E mutations, and from The Cancer Genome Atlas (TCGA) melanoma database for tumor and non-tumor samples from patients with the BRAF V600E mutation and unknown EGFR activation status. 29387237 2018
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.100 GeneticVariation BEFREE BRAF inhibition has demonstrated anti-tumor activity in patients with BRAF V600E mutant NSCLC. 30019008 2018
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE About half of these tumors show characteristic BRAF-V600E mutation. 29615337 2018
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.100 GeneticVariation BEFREE Further preclinical and clinical investigations are needed to clarify the role of non-V600E mutations in CRC. 30463788 2018
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.100 GeneticVariation BEFREE In the present review, we propose an overview of the available evidence about BRAF in NSCLC mutations (V600E and non-V600E), from biological significance to emerging clinical implications of BRAF mutations detection. 29729495 2018
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE The US FDA approved a liquid biopsy test for EGFR activating mutations in patients with non-small cell lung cancer (NSCLC) as a companion diagnostic for therapy selection. ctDNA also allows for the identification of mutations selected by treatment such as EGFR T790M in NSCLC. ctDNA can also detect mutations such as KRAS G12V in colorectal cancer and BRAF V600E/V600K in melanoma. 30335711 2018
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.100 GeneticVariation BEFREE The US FDA approved a liquid biopsy test for EGFR activating mutations in patients with non-small cell lung cancer (NSCLC) as a companion diagnostic for therapy selection. ctDNA also allows for the identification of mutations selected by treatment such as EGFR T790M in NSCLC. ctDNA can also detect mutations such as KRAS G12V in colorectal cancer and BRAF V600E/V600K in melanoma. 30335711 2018
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE BRAF V600E Mutant Colorectal Cancer Subtypes Based on Gene Expression. 27354468 2017
Secondary malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Clinical significance of BRAF non-V600E mutations on the therapeutic effects of anti-EGFR monoclonal antibody treatment in patients with pretreated metastatic colorectal cancer: the Biomarker Research for anti-EGFR monoclonal Antibodies by Comprehensive Cancer genomics (BREAC) study. 28972961 2017
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE Our findings suggest an association of BRAF-V600E with parameters of a more aggressive behaviour of ameloblastoma, supporting the future use of BRAF inhibitors for targeted therapy of this neoplasm. 27681305 2017
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE All tumors had a midline location (spinal cord n = 6, thalamus n = 5, brainstem n = 5, cerebellum n = 3, hypothalamus n = 1, and pineal region n = 1) and were IDH and BRAF-V600E wild type. 28201752 2017
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.100 GeneticVariation BEFREE <i>BRAF</i> V600E colorectal cancers are insensitive to RAF inhibitor monotherapy due to feedback reactivation of receptor tyrosine kinase signaling. 28951457 2017
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE Combining caveolin-1 and BRAF V600E with EGFR might help in recognizing more aggressive thyroid lesions in a pool of relatively indolent tumors in FNA biopsies and thus be useful for early risk stratification of thyroid cancer patients. 27818286 2017
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.100 GeneticVariation BEFREE We provide a global assessment of gene expression motifs that differentiate BRAF V600E subtypes from other colorectal cancers. 27354468 2017
Malignant tumor of colon
CUI: C0007102
Disease: Malignant tumor of colon
0.100 GeneticVariation BEFREE Mechanisms of Acquired Resistance to BRAF V600E Inhibition in Colon Cancers Converge on RAF Dimerization and Are Sensitive to Its Inhibition. 28951457 2017
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE Our data confirm BRAF V600E mutation as a probable driver in a subset of these tumors, along with AKT1 mutation, which further supports that CMPT are indolent pulmonary neoplasms. 27454941 2016
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.100 GeneticVariation BEFREE Among 2690 patients with genotyped NSCLC during the study period, BRAF mutations were identified in 80 (3%) cases, consisting of V600E substitution in 42 (53%) cases; non-V600E mutation were observed in 38 (48%) cases. 26711930 2016