rs1057519847, EGFR

N. diseases: 72
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of penis
CUI: C0153601
Disease: Malignant neoplasm of penis
0.010 GeneticVariation BEFREE We reviewed formalin-fixed, paraffin-embedded blocks of PC at the Pathology Department of the National Cancer Institute since 2000 through 2012 to evaluate activating mutations in the tyrosine kinase domain of EGFR: EGFR E746 - A750 specific deletion in exon 19 and EGFR L858R specific point mutation in exon 21. 23517177 2013
Adenocarcinoma of small intestine
CUI: C0278803
Disease: Adenocarcinoma of small intestine
0.010 GeneticVariation BEFREE Of 24 SIA samples that had DNA sequencing, two (8.3%) harbored exon 19 deletion and one (4.2%) harbored L858R point mutation. 23644682 2013
Penis carcinoma
CUI: C0853105
Disease: Penis carcinoma
0.010 GeneticVariation BEFREE We reviewed formalin-fixed, paraffin-embedded blocks of PC at the Pathology Department of the National Cancer Institute since 2000 through 2012 to evaluate activating mutations in the tyrosine kinase domain of EGFR: EGFR E746 - A750 specific deletion in exon 19 and EGFR L858R specific point mutation in exon 21. 23517177 2013
Adult Penile Carcinoma
CUI: C3900097
Disease: Adult Penile Carcinoma
0.010 GeneticVariation BEFREE We reviewed formalin-fixed, paraffin-embedded blocks of PC at the Pathology Department of the National Cancer Institute since 2000 through 2012 to evaluate activating mutations in the tyrosine kinase domain of EGFR: EGFR E746 - A750 specific deletion in exon 19 and EGFR L858R specific point mutation in exon 21. 23517177 2013
Mucinous Adenocarcinoma
CUI: C0007130
Disease: Mucinous Adenocarcinoma
0.010 GeneticVariation BEFREE Here, we show that haploinsufficiency of Nkx2-1 in combination with oncogenic Kras(G12D), but not with oncogenic EGFR(L858R), caused pulmonary tumors in transgenic mice that were phenotypically similar to human mucinous adenocarcinomas. 23143308 2012
Tumor Progression
CUI: C0178874
Disease: Tumor Progression
0.010 GeneticVariation BEFREE Haploinsufficiency of Nkx2-1 enhanced Kras(G12D)-mediated tumor progression, but reduced EGFR(L858R)-mediated progression. 23143308 2012
Secondary malignant neoplasm of lymph node
0.010 GeneticVariation BEFREE Only one of the patients with an EGFR mutation in the primary HNSCC carried the same mutation (L858R) in the lymph node metastasis. 21953075 2012
Squamous cell carcinoma of the head and neck
0.010 GeneticVariation BEFREE Only one of the patients with an EGFR mutation in the primary HNSCC carried the same mutation (L858R) in the lymph node metastasis. 21953075 2012
Advanced lung cancer
CUI: C4524268
Disease: Advanced lung cancer
0.010 GeneticVariation BEFREE We have recently identified an EGFR mutation E884K, in combination with L858R, in a patient with advanced lung cancer who progressed on erlotinib maintenance therapy, and subsequently had leptomeningeal metastases that responded to gefitinib. 19015641 2009
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
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
Bronchioloalveolar Adenocarcinoma
CUI: C0007120
Disease: Bronchioloalveolar Adenocarcinoma
0.010 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, metastatic
CUI: C0334277
Disease: Adenocarcinoma, metastatic
0.010 GeneticVariation BEFREE Our patient supports the proposition that somatic mutation L858R in exon 21 of the EGFR gene accounts for complete responsiveness to gefitinib in a Taiwanese female patient with metastatic adenocarcinoma of lung. 16027522 2005
Nodule
CUI: C0028259
Disease: Nodule
0.020 GeneticVariation BEFREE Inclusion criteria were histologic diagnosis of benign nodule (control) and stage I or II adenocarcinoma harboring either p.L858R or exon19 delEGFR mutations. 30309763 2018
Adenocarcinoma, Tubular
CUI: C0205645
Disease: Adenocarcinoma, Tubular
0.020 GeneticVariation BEFREE In the present study, we report cases of two synchronous lung adenocarcinomas composed of two distinct pathological subtypes with different EGFR gene mutations: a homozygous deletion in exon 19 of the papillary adenocarcinoma subtype and a point mutation of L858R in exon 21 of the tubular adenocarcinoma. 29090842 2018
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
0.020 GeneticVariation BEFREE With the subgroup of EGFR L858R mutation, variant genotypes (GT + TT) of <i>eNOS</i> 894 G/T were significantly associated with lymph node invasion. 30026850 2018
Non-squamous non-small cell lung cancer
0.020 GeneticVariation BEFREE Differential efficacy of cisplatin plus pemetrexed between L858R and Del-19 in advanced EGFR-mutant non-squamous non-small cell lung cancer. 29291705 2018
Secondary malignant neoplasm of bone
0.020 GeneticVariation BEFREE No significant difference on PFS and OS was observed between exon 19 deletion and L858R mutation group for patients with bone metastasis. 28367239 2017
Non-small cell lung cancer recurrent
0.020 GeneticVariation BEFREE Eligible patients (≥20 years) with stage IIIB/IV or recurrent non-small-cell lung cancer and confirmed activating mutations of EGFR (exon 19 deletion or L858R point mutation in exon 21) received oral erlotinib 150 mg/day until disease progression or unacceptable toxicity. 27659294 2017
Secondary malignant neoplasm of lung
0.020 GeneticVariation BEFREE Oncogenic L858R mutation of human epidermal growth factor receptor (EGFR) confers constitutive activation to the kinase and is frequently observed in the pathological process of metastatic lung cancer. 27643705 2016
Non-squamous non-small cell lung cancer
0.020 GeneticVariation BEFREE Activating mutations in the EGFR gene (deletions in exon 19 and mutation L858R in exon 21), first described in 2004, have been detected in approximately 10% of all non-squamous non-small cell lung cancer (NSCLC) patients in Western countries and are the most important predictors of a response to EGFR tyrosine-kinase inhibitors (EGFR-TKIs). 26398757 2016
Carcinoma
CUI: C0007097
Disease: Carcinoma
0.020 GeneticVariation BEFREE Immunohistochemistry assay with EGFR L858R was positive in 19 (86%) of the HER2-positive breast carcinomas and negative in all HER2-negative carcinomas. 25390349 2015
Nodule
CUI: C0028259
Disease: Nodule
0.020 GeneticVariation BEFREE The coexpression of HER2 and EGFR L858R in a solitary nodule removed from the lung, whose mutation was not confirmed by molecular techniques, made us think about the possible existence of a cross-reaction between HER2 and the EGFR L858R-specific antibody. 25390349 2015