rs1057519847, EGFR

N. diseases: 72
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE Three NSCLC cell lines with varying EGFR mutation status and sensitivities to EGFR-TKIs were selected: H3255 (L858R), H1650 (del E746-A750), and H1781 (wild-type EGFR). 17948911 2007
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.100 GeneticVariation BEFREE Herein, we report a case of 2 synchronous lung adenocarcinomas composed of 2 distinct pathological subtypes with different EGFR mutations: homozygous deletion in exon 19 in the papillary subtype of adenocarcinoma and a point mutation of L858R in exon 21 in the tubular adenocarcinoma. 18186961 2007
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE Herein, we report a case of 2 synchronous lung adenocarcinomas composed of 2 distinct pathological subtypes with different EGFR mutations: homozygous deletion in exon 19 in the papillary subtype of adenocarcinoma and a point mutation of L858R in exon 21 in the tubular adenocarcinoma. 18186961 2007
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
0.030 GeneticVariation BEFREE In this case, both the SCLC and Ad components shared the same mutation in exon 21 (L858R). 17784875 2007
Adenocarcinoma, Tubular
CUI: C0205645
Disease: Adenocarcinoma, Tubular
0.020 GeneticVariation BEFREE Herein, we report a case of 2 synchronous lung adenocarcinomas composed of 2 distinct pathological subtypes with different EGFR mutations: homozygous deletion in exon 19 in the papillary subtype of adenocarcinoma and a point mutation of L858R in exon 21 in the tubular adenocarcinoma. 18186961 2007
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.010 GeneticVariation BEFREE Shock-frozen samples from 32 patients with OC were screened for L858R deletion mutations of EGFR within exon 21 of the kinase domain and 15 bp deletion in exon 19. 17595771 2007
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
0.010 GeneticVariation BEFREE Shock-frozen samples from 32 patients with OC were screened for L858R deletion mutations of EGFR within exon 21 of the kinase domain and 15 bp deletion in exon 19. 17595771 2007
Carcinoma, Ovarian Epithelial
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
0.010 GeneticVariation BEFREE Shock-frozen samples from 32 patients with OC were screened for L858R deletion mutations of EGFR within exon 21 of the kinase domain and 15 bp deletion in exon 19. 17595771 2007
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE Exon19 deletions and exon21 L858R mutations in EGFR were detected in 4 (12%) and 13 (38%) of 34 NSCLC cases, respectively. 18448998 2008
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE In this study, we showed that HRMA is a highly accurate method for detecting DEL and L858R mutations in patients with NSCLC, although it is necessary to consider the identification of patients with a false-negative result when the analysis is conducted using small samples. 18676744 2008
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE The gefitinib response rate of NSCLC with exon 20 mutations was 25%, far lower than those with deletions in exon 19 and L858R mutations. 18676761 2008
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.100 GeneticVariation BEFREE In particular, 3 of 4 adenocarcinomas with EGFR mutations (all L858R point mutations in women, never or former smokers) had a concomitant and identical mutation in AAH, and 2 of 4 adenocarcinomas with K-ras mutations (both at codon 12 in women, a never and a current smoker) showed the same mutation in concomitant AAH.All cases were wild-type for HER2. 18208799 2008
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.100 GeneticVariation BEFREE In this prospective study, EGFR exon 19 deletion or L858R mutations in adenocarcinoma were the best predictors for longer TTF in stage IIIB/IV chemotherapy-naive NSCLC patients receiving first-line gefitinib monotherapy. 18509184 2008
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE We have used unbiased phosphoproteomic approaches, based on quantitative mass spectrometry using stable isotope labeling with amino acids in cell culture (SILAC), to identify tyrosine phosphorylated proteins in isogenic human bronchial epithelial cells (HBECs) and human lung adenocarcinoma cell lines, expressing either of the two mutant alleles of EGFR (L858R and Del E746-A750), or a mutant KRAS allele, which are common in human lung adenocarcinomas. 18776048 2008
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE A previously unreported mutation in exon 21 of EGFR, which leads to substitution of alanine for threonine at position 854 (T854A), was identified in one patient with a drug-sensitive EGFR L858R-mutant lung adenocarcinoma after long-term treatment with tyrosine kinase inhibitors. 19010870 2008
Mucoepidermoid Carcinoma
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
0.010 GeneticVariation BEFREE In the present study, we find that MEC has EGFR mutation in 40% (2 out of 5) of cases, and all mutations are L858R mutation. 18192072 2008
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE Seven of these mutations were novel, and one was the L858R mutation described in non-small-cell lung cancer. 18998063 2009
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE The most common NSCLC-associated EGFR mutations are deletions in exon 19 and L858R mutation in exon 21, together accounting for 90% of EGFR mutations. 19366827 2009
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE Most advanced non-small-cell lung cancers (NSCLCs) with activating epidermal growth factor receptor (EGFR) mutations (exon 19 deletions or L858R) initially respond to the EGFR tyrosine kinase inhibitors (TKIs) gefitinib and erlotinib. 19632948 2009
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE In 77 TTNAs (71.3.%) that were positive for non-small cell lung cancer, the variant in exon 21 (the missense mutation at codon 858, L858R) and the deletion in exon 19 (in frame deletion at codons 747-749) of the EGFR gene, and the point mutation in exon 2 of KRAS were investigated with HRM assay using sequencing as the reference "gold standard". 19640859 2009
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE We examined the diagnostic accuracy of the cumulative smoking dose for identifying the epidermal growth factor receptor (EGFR) exon 19 deletion and L858R mutation among Japanese patients with non-small-cell lung cancer (NSCLC). 19650855 2009
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE Exon 19 deletion mutations and the single-point substitution mutation L858R in exon 21 are the most frequent in NSCLC and are termed 'classical' mutations. 19680293 2009
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE We aim to develop a digital PCR-based method for the quantitative detection of the two common epidermal growth factor receptor (EGFR) mutations (in-frame deletion at exon 19 and L858R at exon 21) in the plasma and tumor tissues of patients suffering from non-small cell lung cancers. 19276259 2009
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.100 GeneticVariation BEFREE We aim to develop a digital PCR-based method for the quantitative detection of the two common epidermal growth factor receptor (EGFR) mutations (in-frame deletion at exon 19 and L858R at exon 21) in the plasma and tumor tissues of patients suffering from non-small cell lung cancers. 19276259 2009
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.040 GeneticVariation BEFREE Importantly, we observed that the combination of PI3K-mTOR and MEK inhibitors effectively shrunk tumors in a transgenic and xenograft model of EGFR T790M-L858R cancers. 19850869 2009