rs397517132, EGFR

N. diseases: 48
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Acute Promyelocytic Leukemia
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
0.010 GeneticVariation BEFREE Here, we discuss the current commonly used predictive pharmacogenetic biomarkers in clinical oncology molecular testing: BRAF V600E for vemurafenib in melanoma; EML4-ALK for crizotinib and EGFR for erlotinib and gefitinib in non-small-cell lung cancer; KRAS against the use of cetuximab and panitumumab in colorectal cancer; ERBB2 (HER2/neu) for trastuzumab in breast cancer; BCR-ABL for tyrosine kinase inhibitors in chronic myeloid leukemia; and PML/RARα for all-trans-retinoic acid and arsenic trioxide treatment for acute promyelocytic leukemia. 22845480 2012
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.050 GeneticVariation BEFREE Moreover, a 47-year-old female with a recurrent adenocarcinoma and a BRAF V600E mutation exhibited tumor regression after a fourth line therapy with dabrafenib and trametinib, targeting agents against BRAF mutations. 31440061 2019
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.050 GeneticVariation BEFREE Adenocarcinomas with this clinicopathologic phenotype may be worthwhile investigating for BRAF-V600E mutation as more genetically oriented drug therapies emerge. 18636014 2008
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.050 GeneticVariation BEFREE In exon 15, one BRAF mutation (1796 thymine to adenine; V599E) was found in nonsmoking woman with well-differentiated adenocarcinoma. 16376942 2006
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.050 GeneticVariation BEFREE Twenty-one BRAF mutations were identified in 951 patients with adenocarcinomas (2.2%; 95% confidence interval [CI], 1.4%-3.4%): 17 (81%; 95% CI, 60%-92%) were BRAF(V600E) mutations, and 4 were non-BRAF(V600E) mutations. 25273224 2015
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.050 GeneticVariation BEFREE Lung ADCA harbouring BRAF mutations are commonly non-V600E. 30591192 2019
Adenocarcinoma of large intestine
CUI: C1319315
Disease: Adenocarcinoma of large intestine
0.010 GeneticVariation BEFREE Immunohistochemistry using the BRAF V600E mutation-specific monoclonal antibody VE1 is not a useful surrogate for genotyping in colorectal adenocarcinoma. 23763264 2013
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.060 GeneticVariation BEFREE Among the 204 lung ADCs tested, 11 cases (5.4%) carried HER2 exon 20 insertions and 4 cases (2.0%) had BRAF V600E mutation. 26102513 2015
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.060 GeneticVariation BEFREE This study compared the specificity and sensitivity of IHC with other methods for the detection of BRAF(V600E) in primary lung adenocarcinoma. 23131393 2013
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.060 GeneticVariation BEFREE The histopathology of BRAF-V600E-mutated lung adenocarcinoma. 18636014 2008
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.060 GeneticVariation BEFREE IHC using the VE1 clone and FLEX linker is a specific method for the detection BRAF V600E and may be an alternative to molecular biology for the detection of mutations in lung adenocarcinomas. 23927882 2013
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.060 GeneticVariation BEFREE Further, the optimal therapeutic strategy to block non-V600E BRAF-mutant LA remains unclear. 27834212 2016
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.060 GeneticVariation BEFREE The advent of effective targeted therapy for BRAF(V600E) -mutant lung adenocarcinomas necessitates further exploration of the unique clinical features and behavior of advanced-stage BRAF-mutant lung adenocarcinomas. 25273224 2015
Advanced Melanoma
CUI: C4727838
Disease: Advanced Melanoma
0.010 GeneticVariation BEFREE PLX4032 is commonly used in the treatment of advanced melanoma patients with BRAF-V600E mutation. 31810919 2019
Ameloblastoma
CUI: C0002448
Disease: Ameloblastoma
0.030 GeneticVariation BEFREE That this therapy was not effective in another primary cell culture led to the discovery of the oncogenic BRAF V600E mutation in a high proportion (63%) of ameloblastoma samples. 24749150 2014
Ameloblastoma
CUI: C0002448
Disease: Ameloblastoma
0.030 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
Ameloblastoma
CUI: C0002448
Disease: Ameloblastoma
0.030 GeneticVariation BEFREE High frequency of BRAF V600E mutations in ameloblastoma. 24374844 2014
Anaplastic thyroid carcinoma
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
0.020 GeneticVariation BEFREE The (V600E) BRAF mutation was observed in three ATCs; the results about the inhibition of proliferation by CLM29 and CLM24, obtained in ATC from tumors with (V600E) BRAF mutation were similar to those from tumors without BRAF mutation. 26286966 2016
Anaplastic thyroid carcinoma
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
0.020 GeneticVariation BEFREE BRAF(V600E) mutations were identified in 22.2% of the carcinoma cases (n = 18, 15 PTCs and 3 anaplastic thyroid carcinomas). 23746767 2013
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
0.010 GeneticVariation BEFREE PKM2-regulated MLC2 phosphorylation, which is greatly enhanced by EGF stimulation or EGFRvIII, K-Ras G12V and B-Raf V600E mutant expression, plays a pivotal role in cytokinesis, cell proliferation and brain tumour development. 25412762 2014
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.010 GeneticVariation BEFREE Here, we discuss the current commonly used predictive pharmacogenetic biomarkers in clinical oncology molecular testing: BRAF V600E for vemurafenib in melanoma; EML4-ALK for crizotinib and EGFR for erlotinib and gefitinib in non-small-cell lung cancer; KRAS against the use of cetuximab and panitumumab in colorectal cancer; ERBB2 (HER2/neu) for trastuzumab in breast cancer; BCR-ABL for tyrosine kinase inhibitors in chronic myeloid leukemia; and PML/RARα for all-trans-retinoic acid and arsenic trioxide treatment for acute promyelocytic leukemia. 22845480 2012
BRONCHIAL ADENOCARCINOMA
CUI: C0518964
Disease: BRONCHIAL ADENOCARCINOMA
0.010 GeneticVariation BEFREE Response to dabrafenib after progression on vemurafenib in a patient with advanced BRAF V600E-mutant bronchial adenocarcinoma. 25466451 2015
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.050 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
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.050 GeneticVariation BEFREE V599E BRAF mutation was uncommon in Japanese lung cancer. 16376942 2006
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.050 GeneticVariation BEFREE The Lung Cancer Mutation Consortium (LCMC) is a multi-institutional effort to identify and treat oncogenic driver events in patients with lung adenocarcinomas.<b>Experimental Design:</b> Sixteen U.S. institutions enrolled 1,367 patients with lung cancer in LCMC2; 904 were deemed eligible and had at least one of 14 cancer-related genes profiled using validated methods including genotyping, massively parallel sequencing, and IHC.<b>Results:</b> The use of targeted therapies in patients with <i>EGFR, ERBB2,</i> or <i>BRAF</i> p.V600E mutations, <i>ALK, ROS1</i>, or <i>RET</i> rearrangements, or <i>MET</i> amplification was associated with a survival increment of 1.5 years compared with those with such mutations not receiving targeted therapy, and 1.0 year compared with those lacking a targetable driver. 29217530 2018