rs1057519847, EGFR

N. diseases: 72
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hyperplastic Polyp
CUI: C0333983
Disease: Hyperplastic Polyp
0.010 GeneticVariation BEFREE Intense expression of L858R in the MP component was suggested, and the MP+ patients harboring L858R were at comparatively higher risk of recurrence in the group with pN0M0 lung adenocarcinoma. 31732945 2020
Malignant neoplasm of stomach
CUI: C0024623
Disease: Malignant neoplasm of stomach
0.010 GeneticVariation BEFREE We detected the epidermal growth factor receptor L858R, MSH2 R929* and telomerase reverse transcriptase amplification in the lung cancer specimen; CDH1 c.1320+1G>T mutation in the gastric cancer (GC) specimen; and MLH1 c.1896+5G>A germline mutation in the lung and GC specimens by 450 cancer-related gene mutations detection using next-generation sequencing technology. 31207149 2019
CNS metastases
CUI: C0686377
Disease: CNS metastases
0.010 GeneticVariation BEFREE Eligible patients were aged 18 years or older (20 years or older in Japan and Taiwan) at the time of study entry, had stage IV NSCLC, with an EGFR exon 19 deletion (ex19del) or exon 21 substitution (Leu858Arg) mutation, an Eastern Cooperative Oncology Group performance status of 0 or 1, and no CNS metastases. 31591063 2019
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
0.010 GeneticVariation BEFREE We detected the epidermal growth factor receptor L858R, MSH2 R929* and telomerase reverse transcriptase amplification in the lung cancer specimen; CDH1 c.1320+1G>T mutation in the gastric cancer (GC) specimen; and MLH1 c.1896+5G>A germline mutation in the lung and GC specimens by 450 cancer-related gene mutations detection using next-generation sequencing technology. 31207149 2019
HER2 gene amplification
CUI: C1512127
Disease: HER2 gene amplification
0.010 GeneticVariation BEFREE Altogether, NGS detected 12 additional variants, including six KRAS mutations, one BRAF mutation, one RET fusion, one MET amplification concurrent with EGFR L858R, one KRAS amplification together with EGFR 19del, and one ERBB2 amplification. 30885850 2019
Papillary adenocarcinoma
CUI: C0001420
Disease: Papillary adenocarcinoma
0.010 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
Diarrhea
CUI: C0011991
Disease: Diarrhea
0.010 GeneticVariation BEFREE Significant association of erlotinib concentrations with diarrhea was found neither in the exon 19 deletions group nor in the exon 21 L858R point mutation group. 30039303 2018
Exanthema
CUI: C0015230
Disease: Exanthema
0.010 GeneticVariation BEFREE Occurrence and severity of skin rash was significantly associated with trough concentration in patients with exon 19 deletions but not exon 21 L858R point mutations. 30039303 2018
Signs and Symptoms, Respiratory
CUI: C0037090
Disease: Signs and Symptoms, Respiratory
0.010 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
Adenocarcinoma of lung stage IIIB
CUI: C0862793
Disease: Adenocarcinoma of lung stage IIIB
0.010 GeneticVariation BEFREE The first patient, a 67-year-old male with stage IIIB lung adenocarcinoma harboring a L858R point mutation in EGFR exon 21, received concurrent chemoradiotherapy. 29963181 2018
Primary Lesion
CUI: C1402294
Disease: Primary Lesion
0.010 GeneticVariation BEFREE Here, we report the case of a 72-year-old, never-smoker female diagnosed with multiple metastatic lung adenocarcinoma (cT2aN2M1) harboring EGFR mutations in exon 21 (L858R) of the primary lesion. 30022837 2018
newly diagnosed non-small cell lung cancer
0.010 GeneticVariation BEFREE Patients and Methods In this multinational, multicenter study, patients age 18 years or older (≥ 20 years in Japan and Korea) who had an Eastern Cooperative Oncology Group performance status of 0 or 1 and newly diagnosed NSCLC with activating mutations in EGFR (exon 19 deletion or exon 21 L858R) were enrolled and randomly assigned in a 1:1 manner to dacomitinib (n = 227) or gefitinib (n = 225). 29864379 2018
Squamous cell carcinoma of lung
CUI: C0149782
Disease: Squamous cell carcinoma of lung
0.010 GeneticVariation BEFREE A subsequent advanced SCC bearing EGFR L858R/T790M mutations occurred 3 years after surgery. 28272214 2017
Secondary malignant neoplasm of liver
0.010 GeneticVariation BEFREE However, patients with EGFR 19del and LM showed marginally significantly shorter OS (P = .0531) and patients with EGFR L858R and LM had OS similar to that of patients without LM (P = .1883). 28549835 2017
Stage IA Lung Adenocarcinoma AJCC v7
0.010 GeneticVariation BEFREE The case initially had an early-stage LADC with an L858R epidermal growth factor receptor (EGFR) mutation. 28272214 2017
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
0.010 GeneticVariation BEFREE Furthermore, retrospective analysis of 121 patients with lung adenocarcinoma to examine associations between serum SFTPD levels and clinical outcome indicated that in TKI-treated patients with lung cancer harboring EGFR mutations, including Ex19del or L858R, high serum SFTPD levels correlated with a lower number of distant metastases and prolonged overall survival and progression-free survival. 28745320 2017
Androgen-Insensitivity Syndrome
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
0.010 GeneticVariation BEFREE Mutations detected by immunohistochemical analysis included 22.7% (L858R, 4/22; exon 19 deletion, 1/22) in AIS and 42.9% (L858R, 4/21; exon 19 deletion, 5/21) in MIA. 27565930 2016
Carcinoma, Large Cell
CUI: C0206704
Disease: Carcinoma, Large Cell
0.010 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
Lymphatic Metastasis
CUI: C0024232
Disease: Lymphatic Metastasis
0.010 GeneticVariation BEFREE Subgroup analysis in different age groups (10 yr as an interval) and N stages (stratified by N0, N1, N2, and N3) also indicated above-mentioned trends.NSCLC patients with 19 Del are more likely to be young and have lymphatic metastasis than those with L858R. 26554801 2015
Carcinoma breast stage IV
CUI: C0278488
Disease: Carcinoma breast stage IV
0.010 GeneticVariation BEFREE Our study was designed to further analyze the existence of this cross-reaction and stress the need to exclude a metastatic breast cancer when dealing with EGFR L858R-positive cases. 25390349 2015
Triple Negative Breast Neoplasms
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
0.010 GeneticVariation BEFREE Immunohistochemical Localization of Wild-type EGFR, E746-A750 Frame Deletion in Exon 19, and L858R Point Mutation in Exon 21 in Triple-negative Breast Cancer. 25789532 2015
Triple-Negative Breast Carcinoma
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
0.010 GeneticVariation BEFREE Immunohistochemical Localization of Wild-type EGFR, E746-A750 Frame Deletion in Exon 19, and L858R Point Mutation in Exon 21 in Triple-negative Breast Cancer. 25789532 2015
Seborrheic keratosis
CUI: C0022603
Disease: Seborrheic keratosis
0.010 GeneticVariation BEFREE We identified a somatic EGFR p.L858R mutation in 1 SK. 23739246 2014
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.010 GeneticVariation BEFREE Successful treatment of a patient with Li-Fraumeni syndrome and metastatic lung adenocarcinoma harboring synchronous EGFR L858R and ERBB2 extracellular domain S310F mutations with the pan-HER inhibitor afatinib. 24835218 2014
Laryngeal Squamous Cell Carcinoma
CUI: C0280324
Disease: Laryngeal Squamous Cell Carcinoma
0.010 GeneticVariation BEFREE Two LSCC specimens were positive for EGFR exon 21 mutation (1.52%).The mutation was p.L858R in exon 21. 24646139 2014