rs1057519847, EGFR

N. diseases: 72
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.100 GeneticVariation BEFREE The L858R mutation was significantly correlated with gender (women versus men, P < 0.0001), Brinkman index (600 < or = versus 600, P = 0.001), pathologic subtypes (adenocarcinoma versus nonadenocarcinoma, P = 0.007), and differentiation status of the lung cancers (well versus moderately or poorly, P = 0.0439), whereas the deletion mutants were not. 15837743 2005
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.100 GeneticVariation BEFREE Two weeks after induction with doxycycline, mice that express the EGFR(L858R) allele show diffuse lung cancer highly reminiscent of human bronchioloalveolar carcinoma and later develop interspersed multifocal adenocarcinomas. 16705038 2006
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
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
CUI: C0001418
Disease: Adenocarcinoma
0.100 GeneticVariation BEFREE Pulmonary adenocarcinoma tissue from 20 previously genotyped specimens was prepared for immunohistochemical staining by two antibodies that recognise products of in-frame deletions in exon 19 (E746_A750del) and a point mutation that replaces leucine with arginine at codon 858 in exon 21 (L858R) of the EGFR gene. 21187519 2010
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.100 GeneticVariation BEFREE Plasma DNA samples from 73 patients with stage IIIB to IV adenocarcinoma were analyzed for EGFR mutations in exons 19 (deletion mutation) and 21 (L858R mutation) using direct DNA sequencing, DHPLC and Scorpions ARMS. 21518597 2011
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.100 GeneticVariation BEFREE Analyses of the EGFR mutation in separately microdissected specimens from adenocarcinoma and spindle cell components revealed that both components possessed the L858R point mutation. 21556797 2011
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.100 GeneticVariation BEFREE In the ADC/BAC group, KRAS mutations were more frequent in man (P<0.02) and EGFR mutations (exon 19 deletion and L858R) demonstrated a tendency towards worse disease-free survival (P=0.056). 23357969 2014
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.100 GeneticVariation BEFREE Eighteen out of 20 large cell carcinomas, not otherwise specified, had glandular differentiation upon immunohistochemistry, with an exon 21 L858R EGFR mutation in one (5 %) tumor, an exon 2 KRAS mutation in eight (40 %) tumors, and an ALK translocation in one (5 %) tumor, whereas two tumors positive for CK7 and CK5/6 and negative for all other markers were considered adenocarcinoma. 24221342 2014
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.100 GeneticVariation BEFREE Twenty-six patients were enrolled, all of whom were diagnosed with adenocarcinoma with EGFR mutations (19del: 16, L858R: 10) except one (squamous cell carcinoma with 19del). 24369725 2013
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.100 GeneticVariation BEFREE Seven adenocarcinoma components were EGFR mutated: five exon 19 deletions and two mutations in exon 21 (L833_V834delinsFL and L858R).Four SCLC components were EGFR mutated. 24457237 2013
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.100 GeneticVariation BEFREE In multivariate analysis, adenocarcinoma (hazard ratio, HR, 12.25; 95% CI, 37.7-41.10; p < 0.001) and major mutations (deletions in exon 19 and L858R point mutation in exon 21; HR, 2.46; 95% CI, 1.14-5.28; p = 0.022) were significant predictors of longer PFS. 24457318 2014
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.100 GeneticVariation BEFREE Pretreatment evaluation of EGFR mutations in the resected primary adenocarcinoma specimen showed an L858R mutation in exon 21. 24852875 2014
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.100 GeneticVariation BEFREE We report here a case of pulmonary adenocarcinoma with concomitant EGFR mutation in exon 21 (L858R) and ALK rearrangement in naive and relapsed tumors. 25312989 2014
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.100 GeneticVariation BEFREE Finally, we showed that EGFR(L858R)/Rhob(+/+) mice developed mainly diffuse lung tumors with a lepidic pattern, whereas EGFR(L858R)/Rhob(+/-) and EGFR(L858R)/Rhob(-/-) developed a greater number of tumors, and aggressive adenocarcinomas with invasive properties. 25320360 2014
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.100 GeneticVariation BEFREE IHC was performed using mutation-specific antibodies for E746-A750 deletion (DEL) and L858R point mutation (L858R) in biopsies and tissue microarrays of resected tumors from 154 patients with pulmonary adenocarcinoma. 25687872 2015
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.100 GeneticVariation BEFREE All tumors had adenocarcinoma histology, and 20 patients (62.5 %) had an L858R mutation. 26003540 2015
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.100 GeneticVariation BEFREE We demonstrated that adenocarcinomas with L858R mutation, rather than exon 19 deletion or wild-type EGFR gene, prefer to locate over the upper lungs. 26645716 2016
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.100 GeneticVariation BEFREE Although 19-deletion and L858R were the most common EGFR mutations, there was no difference of EGFR mutation in pathological subtypes of adenocarcinoma. 27032467 2016
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.100 GeneticVariation BEFREE No significant differences in pathological stage and metastasis status were found between EGFR wild-type and mutated cases, although EGFR mutation type was related to pathological type (p=0.00) - 19-del, L858R and other mutation types respectively occurred in 34.2%, 42.5% and 23.3% of adenocarcinomas, but in 14.3%, 0% and 85.7% of non-adenocarcinomas. 27039821 2016
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.100 GeneticVariation BEFREE EGFR mutations (ex19del and L858R) were detected in 1759/8716 (20.2 %) adenocarcinomas, 28/669 (4.2 %) squamous cell carcinomas (SCC) and 8/119 (6.7 %) large cell carcinomas. 27259329 2016
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.100 GeneticVariation BEFREE Expert consensus guidelines have defined minimum requirements for routine testing and identification of classical epidermal growth factor (EGFR) mutations (ie, exon 19 deletions and exon 21 L858R substitution) and anaplastic lymphoma kinase (ALK) rearrangements in advanced non-small-cell lung cancers of adenocarcinoma histology, with the intent of permitting use of these predictive biomarkers to select patients who will derive maximal benefit from approved oral tyrosine kinase inhibitors (TKIs) directed against EGFR and ALK, respectively. 27381270 2016
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.100 GeneticVariation BEFREE Advanced unresectable pulmonary adenocarcinoma with the epidermal growth factor receptor (EGFR) exon 21 L858R point mutation (Ex21) is associated with a poor prognosis. 27553497 2016
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
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