Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434569
rs121434569
0.100 GeneticVariation BEFREE T790M mutations disappeared from cancer cells in the pleural effusion after a break from the treatment drug and cytotoxic agent administration. 30145590

2018

dbSNP: rs746763556
rs746763556
0.010 GeneticVariation BEFREE Among these impactful variants are rare somatic, clinically actionable variants including EGFR S645C, ARAF S214C and S214F, ERBB2 S418T, and multiple BRAF variants, demonstrating that rare mutations can be functionally important in cancer. 27478040

2016

dbSNP: rs121434569
rs121434569
0.100 GeneticVariation BEFREE Design and synthesis of diphenylpyrimidine derivatives (DPPYs) as potential dual EGFR T790M and FAK inhibitors against a diverse range of cancer cell lines. 31706682

2020

dbSNP: rs121434569
rs121434569
0.100 GeneticVariation BEFREE Following drug resistance in patients with lung cancer treated by EGFR TKIs, a biopsy is required to obtain sufficient cancer tissue for T790M detection in order to select potential beneficiaries suitable for third-generation EGFR TKIs, such as osimertinib. 31407509

2019

dbSNP: rs1050171
rs1050171
0.010 GeneticVariation BEFREE In exon 20, a variant from CAG to CAA at codon 787 (2361G-> A) was identified in 19 patients, which was a genomic variation of EGFR since it was found in both cancer tissue and white blood cells. 22252115

2012

dbSNP: rs987532315
rs987532315
0.010 GeneticVariation BEFREE In exon 20, a variant from CAG to CAA at codon 787 (2361G-> A) was identified in 19 patients, which was a genomic variation of EGFR since it was found in both cancer tissue and white blood cells. 22252115

2012

dbSNP: rs397517132
rs397517132
0.070 GeneticVariation BEFREE In FNA biopsy samples (n=186), immunocytochemical expression of caveolin-1 and BRAF V600E mutation coincided with malignancy. 27818286

2017

dbSNP: rs121434569
rs121434569
0.100 GeneticVariation BEFREE In silico evaluation of the resistance of the T790M variant of epidermal growth factor receptor kinase to cancer drug Erlotinib. 29183267

2018

dbSNP: rs121434569
rs121434569
0.100 GeneticVariation BEFREE In two patients, the ctDNA dynamics suggested the presence of cancer cell populations only with the T790M mutation. 26678713

2016

dbSNP: rs121434569
rs121434569
0.100 GeneticVariation BEFREE Indeed, the use of plasma testing to screen for epidermal growth factor receptor (<i>EGFR</i>) T790M mutant positive non-small cell lung cancer (NSCLC) patients eligible for treatment with third-generation EGFR inhibitors was recently approved by the U.S. Food and Drug Administration and is incorporated into the most recent version of the National Comprehensive Cancer Center guidelines as an alternative to tissue biopsy. 29184671

2017

dbSNP: rs139429793
rs139429793
0.010 GeneticVariation BEFREE KRAS E63K is curated in the Catalogue of Somatic Mutations in Cancer database. 31289513

2019

dbSNP: rs121434569
rs121434569
0.100 GeneticVariation BEFREE Liquid biopsy offers a potential alternative to tissue biopsy for detection of genetic alterations in cancer, and it has been introduced into clinical practice to detect the tyrosine kinase inhibitor (TKI) resistance-conferring T790M mutation of epidermal growth factor receptor (EGFR) in patients with non-small-cell lung cancer (NSCLC). 30289575

2018

dbSNP: rs556324078
rs556324078
0.010 GeneticVariation BEFREE Moreover, we showed that the D717V, G800D, G800R, L840F, G843D, S925F, R1022Q, R1032Q, and S1100F VEGFR2 mutants promote tumor growth in mice.<b>Conclusions:</b> Our study supports WES-cfDNA as a powerful platform for portraying the somatic mutation landscape of cancer and discovery of new resistance mechanisms to cancer therapies. 29588308

2018

dbSNP: rs121434569
rs121434569
0.100 GeneticVariation BEFREE Non-Small Cell Lung Cancer with Resistance to EGFR-TKI Therapy: CT Characteristics of T790M Mutation-positive Cancer. 30015588

2018

dbSNP: rs1057519861
rs1057519861
0.030 GeneticVariation BEFREE Noteworthy effect of slight variation in aliphatic chain length of trisubstituted imidazole inhibitors against epidermal growth factor receptor L858R/T790M/C797S mutant in cancer therapy. 30582282

2019

dbSNP: rs767505234
rs767505234
0.010 GeneticVariation BEFREE Our studies identify T725M and L861R as rare cancer-associated mutations inasmuch as these mutations increase EGFR activity in the absence of the activating EGF ligand in cell-based assays. 24743239

2014

dbSNP: rs121913444
rs121913444
0.020 GeneticVariation BEFREE Our studies identify T725M and L861R as rare cancer-associated mutations inasmuch as these mutations increase EGFR activity in the absence of the activating EGF ligand in cell-based assays. 24743239

2014

dbSNP: rs397517132
rs397517132
0.070 GeneticVariation BEFREE Patients with this cancer have a high frequency (~50%) of oncogenic <i>BRAF</i> mutations, particularly BRAF V600E. 29387237

2018

dbSNP: rs397517132
rs397517132
0.070 GeneticVariation BEFREE Reverse Phase Proteomic Array (RPPA, MD Anderson Cell Lines Project), RNAseq (Cancer Cell Line Encyclopedia) and vemurafenib sensitivity (Cancer Therapeutic Response Portal) data for BRAF-V600E cancer cell lines were curated. 31672130

2019

dbSNP: rs13222385
rs13222385
0.010 GeneticVariation BEFREE SNPs in cancer genes including rs2159359 SNP in NME1 and rs13222385 in EGFR may stratify risk in EEC and are prioritized for further investigation. 30827726

2019

dbSNP: rs397517132
rs397517132
0.070 GeneticVariation BEFREE The aim of the correlative tumour tissue studies was to investigate the relationship between EGFR gene copy numbers, activation of the EGFR pathway, expression and mutation of E-cadherin, V600E BRAF mutation and clinical outcome of patients with gastric and OGJ cancer treated with cetuximab combined with FUFOX. 22152101

2011

dbSNP: rs397517132
rs397517132
0.070 GeneticVariation BEFREE The BRAF inhibitor vemurafenib has become an important treatment option for melanoma patients, the majority of whom have a BRAF(V600E) mutation driving their malignancy. 23074264

2012

dbSNP: rs1057519861
rs1057519861
0.030 GeneticVariation BEFREE The combination of a MEK inhibitor with AZD9291 restores the sensitivity of AZD9291-resistant cells including those with C797S mutation to undergo apoptosis and growth regression <i>in vitro</i> and <i>in vivo</i><b>Conclusions:</b> Modulation of MEK/ERK-dependent Bim and Mcl-1 degradation critically mediates sensitivity and resistance of EGFR-mutant NSCLC cells to AZD9291 and hence is an effective strategy to overcome acquired resistance to AZD9291.<i>Clin Cancer Res; 23(21); 6567-79.©2017 AACR</i>. 28765329

2017

dbSNP: rs961150162
rs961150162
0.010 GeneticVariation BEFREE The DDR2 E655K mutation can play a role in cancer progression by reducing the growth-inhibitory effect of collagen.Clin Cancer Res; 22(14); 3663-71.©2016 AACR. 26826182

2016

dbSNP: rs121434569
rs121434569
0.100 GeneticVariation BEFREE The molecular beacon-based approach enabled rapid and sensitive detection of the EGFR mutation (T790M) in NSCLC with in situ fluorescence imaging, which can be directed to determine various treatment options in patients with cancer. 20805561

2010