Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434568
rs121434568
0.100 GeneticVariation BEFREE Inclusion criteria were histologic diagnosis of benign nodule (control) and stage I or II adenocarcinoma harboring either p.L858R or ex</span>on19 delEGFR mutations. 30309763

2018

dbSNP: rs121434568
rs121434568
0.100 GeneticVariation BEFREE This case represents the first evidence that 1) bevacizumab combined with osimertinib can significantly relieve tumor growth and respiratory symptoms in non-small-cell lung cancer patients with osimertinib resistance and 2) the clinical use of osimertinib, bevacizumab, and brigatinib is effective as combination therapy for pulmonary adenocarcinoma in the presence of triple EGFR mutations of L858R, T790M, and <i>cis</i>-C797S. 30233215

2018

dbSNP: rs121434568
rs121434568
0.100 GeneticVariation BEFREE A 62-year-old Asian male never smoker who presented with stage IV EGFR L858R-positive adenocarcinoma developed EGFR T790 M mutation after 14 months of treatment with erlotinib combined with thoracic radiotherapy as first-line therapy. 30400855

2018

dbSNP: rs121434568
rs121434568
0.100 GeneticVariation BEFREE We enrolled consecutive patients with operable adenocarcinoma which harbored 19del or L858R to investigate the clinicopathologic characteristics and prognostic outcomes. 29026990

2018

dbSNP: rs121434569
rs121434569
0.100 GeneticVariation BEFREE We report 3 cases of pulmonary adenocarcinoma which did not respond to EGFR-TKI retreatment even with T790M disappearance. 30145590

2018

dbSNP: rs121434569
rs121434569
0.100 GeneticVariation BEFREE Osimertinib is commonly used in pulmonary adenocarcinoma patients who are resistant to first-generation epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors and carry the T790M mutation. 30233215

2018

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE A case of a primary lung cancer comprised of adenocarcinoma and atypical carcinoid tumor with both components harboring BRAF p.V600E mutation. 29248665

2018

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Patients (<i>n</i> = 59) from 24 centres were included: 57.6% men; mean age: 64.5 ± 14.5 years; 82% with a performance status of 0-1 at diagnosis; smoking status: 40.3% current, 32.6% former; 93% with adenocarcinoma histology; 75% stage iv; 78% with V600E mutations; 2 with <i>EGFR</i> and 2 with <i>ALK</i> co-mutations. 30464690

2018

dbSNP: rs1057519847
rs1057519847
0.100 GeneticVariation BEFREE A 69-year-old Caucasian female former light-smoker presented with stage IV EGFR L858R positive adenocarcinoma who developed EGFR T790M mutation after 8 month treatment of erlotinib. 28625641

2017

dbSNP: rs1057519847
rs1057519847
0.100 GeneticVariation BEFREE We describe here on a hitherto unreported mechanism of EGFR TKI resistance synchronously combining squamous-cell carcinoma change and occurrence of the EGFR exon 20 S768I secondary mutation in a 43 year-old woman with stage IV adenocarcinoma harbouring EGFR exon 21 L858R mutation. 28024692

2017

dbSNP: rs1057519847
rs1057519847
0.100 GeneticVariation BEFREE We analyzed three major EGFR mutations (L858R in exon 21, E746_A750del in exon 19 and T790M in exon 20) in 80 fresh liquid cytology specimens of adenocarcinoma (ADC) or NSCLC-not otherwise specified (NOS) via the EGFR d-PCR assay and conventional real-time PCR assay using the therascreen® EGFR RGQ PCR kit (Therascreen assay). 27922678

2017

dbSNP: rs1057519847
rs1057519847
0.100 GeneticVariation BEFREE A 44-year-old male, never smoker, suffers from stage IV adenocarcinoma of the right lung with epidermal growth factor receptor (EGFR) exon-21 L858R point mutation on initial presentation. 28296233

2017

dbSNP: rs1057519848
rs1057519848
0.100 GeneticVariation BEFREE A 44-year-old male, never smoker, suffers from stage IV adenocarcinoma of the right lung with epidermal growth factor receptor (EGFR) exon-21 L858R point mutation on initial presentation. 28296233

2017

dbSNP: rs1057519848
rs1057519848
0.100 GeneticVariation BEFREE We describe here on a hitherto unreported mechanism of EGFR TKI resistance synchronously combining squamous-cell carcinoma change and occurrence of the EGFR exon 20 S768I secondary mutation in a 43 year-old woman with stage IV adenocarcinoma harbouring EGFR exon 21 L858R mutation. 28024692

2017

dbSNP: rs1057519848
rs1057519848
0.100 GeneticVariation BEFREE A 69-year-old Caucasian female former light-smoker presented with stage IV EGFR L858R positive adenocarcinoma who developed EGFR T790M mutation after 8 month treatment of erlotinib. 28625641

2017

dbSNP: rs1057519848
rs1057519848
0.100 GeneticVariation BEFREE We analyzed three major EGFR mutations (L858R in exon 21, E746_A750del in exon 19 and T790M in exon 20) in 80 fresh liquid cytology specimens of adenocarcinoma (ADC) or NSCLC-not otherwise specified (NOS) via the EGFR d-PCR assay and conventional real-time PCR assay using the therascreen® EGFR RGQ PCR kit (Therascreen assay). 27922678

2017

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE IHC cytoplasmic expression of BRAF V600E (VE1) protein was found in two of 95 cases: one case of adenocarcinoma NOS (one of three; 33%) and one case of carcinoma ex pleomorphic adenoma (one of five; 20%). 27682157

2017

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE None of the MMRD small bowel adenocarcinomas harbored the BRAF V600E mutation, whereas 60% of MMRD colorectal carcinomas were positive for BRAF V600E with concurrent loss of MLH1 and PMS2 expression. 27258561

2017

dbSNP: rs121434568
rs121434568
0.100 GeneticVariation BEFREE We analyzed three major EGFR mutations (L858R in exon 21, E746_A750del in exon 19 and T790M in exon 20) in 80 fresh liquid cytology specimens of adenocarcinoma (ADC) or NSCLC-not otherwise specified (NOS) via the EGFR d-PCR assay and conventional real-time PCR assay using the therascreen® EGFR RGQ PCR kit (Therascreen assay). 27922678

2017

dbSNP: rs121434568
rs121434568
0.100 GeneticVariation BEFREE A 44-year-old male, never smoker, suffers from stage IV adenocarcinoma of the right lung with epidermal growth factor receptor (EGFR) exon-21 L858R point mutation on initial presentation. 28296233

2017

dbSNP: rs121434568
rs121434568
0.100 GeneticVariation BEFREE We describe here on a hitherto unreported mechanism of EGFR TKI resistance synchronously combining squamous-cell carcinoma change and occurrence of the EGFR exon 20 S768I secondary mutation in a 43 year-old woman with stage IV adenocarcinoma harbouring EGFR exon 21 L858R mutation. 28024692

2017

dbSNP: rs121434568
rs121434568
0.100 GeneticVariation BEFREE A 69-year-old Caucasian female former light-smoker presented with stage IV EGFR L858R positive adenocarcinoma who developed EGFR T790M mutation after 8 month treatment of erlotinib. 28625641

2017

dbSNP: rs121434569
rs121434569
0.100 GeneticVariation BEFREE Using histological and gene sequencing analysis, we observed that the primary adenocarcinoma acquired T790M mutation in EGFR exon 20, and a secondary sarcomatoid carcinoma developed in the vicinity. 28786540

2017

dbSNP: rs121434569
rs121434569
0.100 GeneticVariation BEFREE We analyzed three major EGFR mutations (L858R in exon 21, E746_A750del in exon 19 and T790M in exon 20) in 80 fresh liquid cytology specimens of adenocarcinoma (ADC) or NSCLC-not otherwise specified (NOS) via the EGFR d-PCR assay and conventional real-time PCR assay using the therascreen® EGFR RGQ PCR kit (Therascreen assay). 27922678

2017

dbSNP: rs121434569
rs121434569
0.100 GeneticVariation BEFREE Cytological examination of the pleural effusion confirmed an adenocarcinoma positive for the <i>EGFR</i> exon 19 deletion and the T790M mutation within exon 20, while a biopsy from the upper left bronchus revealed a keratinizing squamous cell carcinoma positive for the <i>EGFR</i> exon 19 deletion. 29113230

2017