Exon 21 L858R mutation
Multiple treatment modalities for brain metastasis in patients with EGFR-mutant non-small-cell lung cancer
... EGFR mutation type, first-line treatment, therapy for BM, RT types, and interval between RT and ...EGFR mutation type (exon 19 deletion, exon 21 L858R mutation), ...
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Effectiveness of tyrosine kinase inhibitors on uncommon E709X epidermal growth factor receptor mutations in non-small-cell lung cancer
... complex mutation group, we may postulate the E709X is simply a passenger mutation, and is possibly ...other mutation in the complex is the driver ...E709X mutation existed with a clas- sical ...
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Comparison of uncommon <em>EGFR</em> exon 21 L858R compound mutations with single mutation
... different mutation status could result in incon- sistent responses to EGFR TKI treatments and also different ...the exon 19 deletions and the exon 21 point mutation L858R ...
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Original Article Comparison of clinicopathologic characteristics between patients with EGFR exon 19 deletion and EGFR L858R mutation in lung cancer
... on exon 18-21. The two most important mutations are L858R in exon 21 and exon 19 deletion (19Del), and they account for more than 80% of EGFR muta- tions [3], of which the ...
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Analysis of the frequency of EGFR, KRAS and ALK mutations in patients with lung adenocarcinoma in Croatia
... for exon 19 deletions and allele-specific PCR to detect the L858R ...only exon 19 deletions and the exon 21 point mutation, and reported that ...EGFR mutation kit (DxS, ...
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Detection of EGFR mutations in circulating free DNA by PNA-mediated PCR clamping
... EGFR-activating mutation was detected in plasma of 10 cases (exon 19 deletion in seven and exon 21 L858R point mutation in ...EGFR mutation in tumor were analyzed, 17% (6 ...
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Case Report Hemophagocytic syndrome as the initial manifestation of CD20(+) B-cell non-Hodgkin lymphoma with EGFR(+) lung adenocarcinoma: a case report and literature review
... EGFR mutation of advanced lung adenocarcinoma in China ...a mutation of EGFR gene exon 21 L858R in this patient’s lung biopsy, so after receiving EGFR- TKI icotinib treatment for about ...
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Comparison of different methods for detecting epidermal growth factor receptor mutations in peripheral blood and tumor tissue of non-small cell lung cancer as a predictor of response to gefitinib
... the mutation alleles so that the wild-type sequence could be selectively removed by restriction digestion, and the undigested mutated DNA was amplified by ...in exon 19 and L858R mutation in ...
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Circulating cell-free DNA has a high degree of specificity to detect exon 19 deletions and the single-point substitution mutation L858R in non-small cell lung cancer
... in exon 19 (exon 19 deletion), accounting for 45% of mutations, and exon 21 mutations resulting in the single-point substitution mutation L858R, which accounts for 40%–45% of ...
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MLH1 V384D polymorphism associates with poor response to EGFR tyrosine kinase inhibitors in patients with EGFR L858R- positive lung adenocarcinoma
... in exon 19 and a substitution mutation L858R) display objective clinical response to EGFR-TKI treatment ...T790M mutation [12,13], MET amplification [14,15], PIK3CA mutations [16], FGFR1 ...
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Detection of epidermal growth factor receptor mutation in lung cancer by droplet digital polymerase chain reaction
... in exon 19 and exon 21 (ex19del and L858R) are prevalent in lung cancer patients and sensitive to targeted EGFR ...resistance mutation in exon 20 (T790M) has been found to ...
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Novel Missense Mutation in Ligand-Binding Domain of AR Gene Identified in Patient with Androgen Insensitivity Syndrome from Ukraine
... (24-368). Mutation X:67722884 T>G was identified in patient UKR1901 ...missense mutation is located in exon 7 (ligand binding domain) and results into the substitution ...
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Mutation analysis of the Gadd45 gene at exon 4 in atypical fibroxanthoma
... AFX typically occurs on the head and neck of sun-exposed skin. This fact has long suggested a role for sun exposure in the tumorigenesis of AFX. UV radiation from sunlight is an important risk factor for skin cancer ...
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IL2RG hypomorphic mutation: identification of a novel pathogenic mutation in exon 8 and a review of the literature
... in exon 5 (29.4%) and exon 3 (19.9%). Mutations in exon 5, which encodes the extracellular domain including the highly conserved WSXWS motif: a region essential for proper protein folding and thereby ...
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Exon 10 CFTR gene mutation in male infertility
... Besides F508del, other common mutations exist in most populations, within frequencies of about one percent (9). Therefore for a given population, ethnic-specific mutations that reach frequencies of about 1-2% might ...
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Detection of a novel mutation in exon 20 of the BRCA1 gene
... Residues 1649-1859 in a complex with BACH1 peptide (PDB ID 1T15) were retrieved from the PDB database. The mutant p.His1746 Pro was built using Modeller9v6. The energy minimization was performed using a NOMAD-Ref server ...
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Novel loss-of-function PRRT2mutation causes paroxysmal kinesigenic dyskinesia in a Han Chinese family
... the mutation type will do nothing on the wild type protein by an artificial ...this mutation needs further investiga- ...the mutation protein with the normal protein unable to sus- tain normal ...
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Whole genome sequencing in an acrodermatitis enteropathica family from the Middle East.
... with mutation in the RECQL4 gene have several characteristic features similar to AE; for example, Bernstein et ...genetic mutation, although rare cases have been reported in which GPAA1 gene amplification ...
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Inherited gastrointestinal stromal tumor syndromes: mutations, clinical features, and therapeutic implications
... Additional recent work has confirmed the important role SDH plays in the pathogenesis of GISTs. A study of 34 GIST patients without KIT or PDGFRA mutations (WT GIST) revealed that four patients (12%) had SDH germline ...
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Clinical characteristics and STK11 gene mutations in Chinese children with Peutz-Jeghers syndrome
... STK11 gene sequence analyses were performed for twelve of the thirteen pediatric PJS patients (Table 3). We identified eleven mutations, including seven novel mutations (four of which were de novo mutations) and four ...
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