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https://www.readbyqxmd.com/read/27922678/a-novel-rapid-point-of-care-test-for-lung-cancer-patients-to-detect-epidermal-growth-factor-receptor-gene-mutations-by-using-real-time-droplet-pcr-and-fresh-liquid-cytology-specimens
#1
Shiho Asaka, Akihiko Yoshizawa, Kazuyuki Matsuda, Akemi Yamaguchi, Hiroshi Yamamoto, Takayuki Shiina, Rie Nakata, Kaoru Ogawa, Meng Zhang, Takayuki Honda
Epidermal growth factor receptor gene (EGFR) mutations are associated with response to tyrosine kinase inhibitors (TKIs) in patients with non-small cell lung cancer (NSCLC). We developed a novel, rapid EGFR mutation assay using a real-time droplet-polymerase chain reaction machine (EGFR d-PCR assay). The purpose of this study was to validate the performance of the EGFR d-PCR assay using fresh liquid cytology specimens. 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)...
December 2, 2016: Oncology Reports
https://www.readbyqxmd.com/read/27920707/a-case-report-demonstrating-the-potential-clinical-relevance-of-liquid-tumor-biopsies-in-lung-cancer
#2
Revathi Suppiah, Bruce Gershenhorn, Maurie Markman
A 50-year-old male with advanced non-small-cell lung cancer was unable to have standard-of-care molecular testing performed at diagnosis as a result of inadequacy of the available tissue. A subsequently performed commercial liquid tumor biopsy (Foundation ACT(®)) revealed an epidermal growth factor receptor exon 19 deletion, but due to the progression of the tumor and rapid deterioration in the patient's performance status, a meaningful attempt at therapy directed to this recognized therapeutic target was not possible...
September 2016: Case Reports in Oncology
https://www.readbyqxmd.com/read/27920501/three-generations-of-epidermal-growth-factor-receptor-tyrosine-kinase-inhibitors-developed-to-revolutionize-the-therapy-of-lung-cancer
#3
REVIEW
Haijun Zhang
Lung cancer, ~80%-85% of which is non-small-cell lung cancer (NSCLC), is the leading cause of cancer-related mortality worldwide. Sensitizing mutations in epidermal growth factor receptor (EGFR) gene (EGFRm(+)), such as exon 19 deletions and exon 21 L858R point mutations, are the most important drivers in NSCLC patients. In this respect, small-molecule EGFR tyrosine kinase inhibitors (TKIs) have been designed and developed, which launched the era of targeted, personalized and precise medicine for lung cancer...
2016: Drug Design, Development and Therapy
https://www.readbyqxmd.com/read/27910964/osimertinib-a-third-generation-tyrosine-kinase-inhibitor-targeting-non-small-cell-lung-cancer-with-egfr-t790m-mutations
#4
C E McCoach, A Jimeno
Oncogenic driver mutations in the epidermal growth factor receptor (EGFR) gene have provided a focus for effective targeted therapy. Unfortunately, all patients eventually develop resistance to frontline therapy with EGFR tyrosine kinase inhibitors (TKIs). The majority of patients develop a large subclonal population of tumor cells with a T790M mutation that renders these cells resistant to first-generation TKIs. Osimertinib is a third-generation EGFR TKI that was designed to overcome resistance from T790M mutations...
October 2016: Drugs of Today
https://www.readbyqxmd.com/read/27908825/egfr-mutation-subtypes-influence-survival-outcomes-following-first-line-gefitinib-therapy-in-advanced-asian-nsclc-patients
#5
Natalia Sutiman, Shao Weng Tan, Eng Huat Tan, Wan Teck Lim, Ravindran Kanesvaran, Quan Sing Ng, Amit Jain, Mei Kim Ang, Wan Ling Tan, Chee Keong Toh, Balram Chowbay
INTRODUCTION: Activating mutations in the EGFR gene have been shown to confer sensitivity to EGFR tyrosine kinase inhibitors (TKIs) in advanced NSCLC patients. However, wide inter-patient variability in treatment outcomes to EGFR TKIs in these patients remains unaccounted for. This study aimed to evaluate the influence of EGFR mutation types and subtypes on survival outcomes in advanced Asian NSCLC patients receiving first-line gefitinib therapy. METHODS: Patients with stage IIIB/IV, harboring EGFR mutations, receiving first-line gefitinib treatment and of Asian descent (N=383) were evaluated...
November 28, 2016: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/27899998/expression-level-of-crkl-and-axl-combined-with-exon-19-deletion-in-egfr-and-alk-status-confer-differential-prognosis-of-lung-adenocarcinoma-subtypes
#6
Yi-Ran Cai, Yu-Jie Dong, Hong-Bo Wu, Da-Ping Yu, Li-Juan Zhou, Dan Su, Li Zhang, Xue-Jing Chen
Non-small cell lung cancer (NSCLC) is a lethal cancer-related disease in population. Adenocarcinoma (AC) is subclassified into several subtypes based on the new classification by the International Association for the Study of Lung Cancer, American Thoracic Society and European Respiratory Society in 2011. Correlation between original expression of Crk-like (CRKL) and anaplastic lymphoma receptor tyrosine kinase in diverse histological components of AC and epidermal growth factor receptor (EGFR) or ALK status was evaluated by immunohistochemistry and sequencing in present study...
November 2016: Oncology Letters
https://www.readbyqxmd.com/read/27895763/small-cell-lung-cancer-transformation-and-the-t790m-mutation-a-case-report-of-two-acquired-mechanisms-of-tki-resistance-detected-in-a-tumor-rebiopsy-and-plasma-sample-of-egfr-mutant-lung-adenocarcinoma
#7
Greta Alì, Rossella Bruno, Mirella Giordano, Irene Prediletto, Letizia Marconi, Simonetta Zupo, Franco Fedeli, Alessandro Ribechini, Antonio Chella, Gabriella Fontanini
The present study describes the case of a 45-year-old man diagnosed with metastatic lung adenocarcinoma, which harbored a deletion within exon 19 of the epidermal growth factor receptor (EGFR) gene. The patient was subsequently treated with gefitinib (250 mg/day orally from May 2013 to March 2014), but developed acquired resistance to the drug following 11 months of treatment. Tumor burden molecular analysis was performed on a tumor rebiopsy and plasma sample, and histological analysis was also performed on the tumor rebiopsy...
November 2016: Oncology Letters
https://www.readbyqxmd.com/read/27891503/tp53-gene-status-affects-survival-in-advanced-mycosis-fungoides
#8
Gitte Wooler, Linea Melchior, Elisabeth Ralfkiaer, Lise Mette Rahbek Gjerdrum, Robert Gniadecki
TP53 is frequently mutated in different types of neoplasms including leukemia and lymphomas. Mutations of TP53 have also been reported in mycosis fungoides (MF), the most common type of cutaneous lymphoma. However, little is known about the frequency, spectrum of mutations, and their prognostic significance in MF. In this study, we have optimized the protocol for Sanger sequencing of TP53 using DNA extracted from archival paraffin-embedded biopsies. Of 19 samples from patients with stage IIB MF or higher, 31% harbored mutations in TP53...
2016: Frontiers in Medicine
https://www.readbyqxmd.com/read/27873136/afatinib-a-review-in-advanced-non-small-cell-lung-cancer
#9
REVIEW
Gillian M Keating
Afatinib (Giotrif(®), Gilotrif(®)) is an orally administered, irreversible inhibitor of the ErbB family of tyrosine kinases. In the first-line treatment of patients with advanced lung adenocarcinoma with activating epidermal growth factor receptor (EGFR) mutations, afatinib significantly prolonged progression-free survival (PFS) and time to treatment failure (TTF), but not overall survival (OS), compared with gefitinib (LUX-Lung 7 trial). In the overall population of patients receiving first-line treatment for advanced lung adenocarcinoma with activating EGFR mutations, afatinib significantly prolonged PFS, but not OS, compared with pemetrexed plus cisplatin (LUX-Lung 3 trial) or gemcitabine plus cisplatin (LUX-Lung 6 trial)...
November 22, 2016: Targeted Oncology
https://www.readbyqxmd.com/read/27870944/application-of-single-molecule-amplification-and-resequencing-technology-for-broad-surveillance-of-plasma-mutations-in-patients-with-advanced-lung-adenocarcinoma
#10
Zheng Wang, Gang Cheng, Xiaohong Han, Xinlin Mu, Yuhui Zhang, Di Cui, Chang Liu, Li Zhang, Zaiwen Fan, Lingyun Ma, Li Yang, Jing Di, David S Cram, Yuankai Shi, Dongge Liu
Liquid biopsy to access the circulating tumor DNA is a promising surrogate for invasive tumor genotyping. We designed a multiplex assay based on circulating single-molecule amplification and resequencing technology (cSMART) to simultaneously detect and quantitate hot spot EGFR, KRAS, BRAF, ERBB2, and ALK plasma DNA variants in 103 patients with advanced lung adenocarcinoma. In validation studies using an analytical mutation standard, the sensitivity of the assay for EGFR mutation detection was at least 0.1% and specificity was 100%...
November 18, 2016: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/27864976/an-effective-diagnostic-strategy-for-accurate-detection-of-rhd-variants-including-asian-del-type-in-apparently-rhd-negative-blood-donors-in-korea
#11
M H Seo, E J Won, Y J Hong, S Chun, J R Kwon, Y S Choi, J N Kim, S A Lee, A H Lim, S H Kim, K U Park, D Cho
BACKGROUND AND OBJECTIVES: The purpose of this study was to provide an effective RHD genotyping strategy for the East Asian blood donors. MATERIAL AND METHODS: RhD phenotyping, weak D testing and RhCE phenotyping were performed on 110 samples from members of the RhD-negative club, private organization composed of RhD-negative blood donors, in the GwangJu-Chonnam region of Korea. The RHD promoter, intron 4, and exons 7 and 10 were analysed by real-time PCR. Two nucleotide changes (c...
November 2016: Vox Sanguinis
https://www.readbyqxmd.com/read/27846281/meta-gwas-and-meta-analysis-of-exome-array-studies-do-not-reveal-genetic-determinants-of-serum-hepcidin
#12
Tessel E Galesloot, Niek Verweij, Michela Traglia, Caterina Barbieri, Freerk van Dijk, Anneke J Geurts-Moespot, Domenico Girelli, Lambertus A L M Kiemeney, Fred C G J Sweep, Morris A Swertz, Peter van der Meer, Clara Camaschella, Daniela Toniolo, Sita H Vermeulen, Pim van der Harst, Dorine W Swinkels
Serum hepcidin concentration is regulated by iron status, inflammation, erythropoiesis and numerous other factors, but underlying processes are incompletely understood. We studied the association of common and rare single nucleotide variants (SNVs) with serum hepcidin in one Italian study and two large Dutch population-based studies. We genotyped common SNVs with genome-wide association study (GWAS) arrays and subsequently performed imputation using the 1000 Genomes reference panel. Cohort-specific GWAS were performed for log-transformed serum hepcidin, adjusted for age and gender, and results were combined in a fixed-effects meta-analysis (total N 6,096)...
2016: PloS One
https://www.readbyqxmd.com/read/27836723/identification-and-functional-characterizations-of-serpin8-a-potential-prophenoloxidase-activating-protease-inhibitor-in-pacific-white-shrimp-litopenaeus-vannamei
#13
Yongjie Liu, Yuhang Sun, Qiai Wang, Fujun Hou, Xiaolin Liu
Serpins have been characterized from varieties of organisms by their inhibitory roles on serine or cysteine proteases. However, research for the functional study of serpins in crustacean is relatively small. To fully clarify the immune characterizations of serpin, a novel serpin (named Lvserpin8) encoding 414 amino acids with a 19-amino acid signal peptide and a serpin domain was identified from the Pacific white shrimp Litopenaeus vannamei. Sequence analysis indicated that the genomic Lvserpin8 gene contains 5 exons and 4 introns...
November 8, 2016: Fish & Shellfish Immunology
https://www.readbyqxmd.com/read/27835637/transcriptomic-variation-during-spermiogenesis-in-mouse-germ-cells
#14
Haiyang Zuo, Junfang Zhang, Liuguang Zhang, Xiaoxia Ren, Xiaoli Chen, Haisheng Hao, Xueming Zhao, Dong Wang
To explore variations in the transcription activity during spermiogenesis, round and elongated spermatids were collected from ICR/CD1 model mice using laser capture microdissection (LCM) and cauda epididymal sperm samples. The transcripts were sequenced using RNA-seq, and the reads were mapped to mm9. The majority of the reads (70%) in the round and elongated spermatids were mappable to known and predicted exons, but that in sperm was only 9%. The results of the distribution of reads suggested that alternative splicing was more complicated in sperm than in round and elongated spermatids...
2016: PloS One
https://www.readbyqxmd.com/read/27824297/single-point-mutations-in-pediatric-differentiated-thyroid-cancer
#15
Ali S Alzahrani, Avaniyapuram Kannan Murugan, Ebtesam Qasem, Meshael Alswailem, Hindi Nassir Al-Hindi, Yufei Shi
PURPOSE: Differentiated Thyroid Cancer (DTC) is rare in children. Previous studies suggested that it has different clinicopathological features and mutation profiles compared with adult DTC. However, those studies focused on single or a limited number of gene mutations. We comprehensively studied a large series of pediatric DTC for single point mutations in BRAF, HRAS, KRAS, NRAS, PIK3CA, PTEN and TERT. We also analyzed associations between clinicopathological features and the BRAFV600Emutation...
November 8, 2016: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/27821794/understanding-mechanisms-of-resistance-in-the-epithelial-growth-factor-receptor-in-non-small-cell-lung-cancer-and-the-role-of-biopsy-at-progression
#16
REVIEW
Mark A Socinski, Liza C Villaruz, Jeffrey Ross
: : Molecular profiling and the discovery of drugs that target specific activating mutations have allowed the personalization of treatment for non-small cell lung cancer (NSCLC). The epithelial growth factor receptor (EGFR) is frequently overexpressed and/or aberrantly activated in different cancers, including NSCLC. The most common activating mutations of EGFR in NSCLC fall within the tyrosine kinase-binding domain. Three oral EGFR tyrosine kinase inhibitors (TKIs) have been approved by the U...
November 7, 2016: Oncologist
https://www.readbyqxmd.com/read/27818095/genetic-markers-associated-with-dihydroartemisinin-piperaquine-failure-in-plasmodium-falciparum-malaria-in-cambodia-a-genotype-phenotype-association-study
#17
Roberto Amato, Pharath Lim, Olivo Miotto, Chanaki Amaratunga, Dalin Dek, Richard D Pearson, Jacob Almagro-Garcia, Aaron T Neal, Sokunthea Sreng, Seila Suon, Eleanor Drury, Dushyanth Jyothi, Jim Stalker, Dominic P Kwiatkowski, Rick M Fairhurst
BACKGROUND: As the prevalence of artemisinin-resistant Plasmodium falciparum malaria increases in the Greater Mekong subregion, emerging resistance to partner drugs in artemisinin combination therapies seriously threatens global efforts to treat and eliminate this disease. Molecular markers that predict failure of artemisinin combination therapy are urgently needed to monitor the spread of partner drug resistance, and to recommend alternative treatments in southeast Asia and beyond. METHODS: We did a genome-wide association study of 297 P falciparum isolates from Cambodia to investigate the relationship of 11 630 exonic single-nucleotide polymorphisms (SNPs) and 43 copy number variations (CNVs) with in-vitro piperaquine 50% inhibitory concentrations (IC50s), and tested whether these genetic variants are markers of treatment failure with dihydroartemisinin-piperaquine...
November 3, 2016: Lancet Infectious Diseases
https://www.readbyqxmd.com/read/27816473/characterization-of-soluble-n-ethylmaleimide-sensitive-factor-attachment-protein-receptor-gene-stx18-variations-for-possible-roles-in-congenital-heart-diseases
#18
Xia Li, Shuai Shi, Fei-Feng Li, Rui Cheng, Ying Han, Li-Wei Diao, Qiong Zhang, Ji-Xin Zhi, Shu-Lin Liu
Congenital heart disease (CHD) is among the most prevalent and complex congenital anatomic malformations in newborns. Interactions of cardiac progenitor with a broad range of cellular regulatory factors play key roles in the formation of mammalian heart and pathogenesis of CHD. STX18 is a soluble N-ethylmaleimide-sensitive factor attachment protein receptor, which is involved in numeral cellular activities such as organelle assembly and the cell cycle. The aim of this work was to find evidence on whether STX18 variations might be associated with CHD in Chinese Han populations...
November 2, 2016: Gene
https://www.readbyqxmd.com/read/27811988/association-of-egfr-exon-19-deletion-and-egfr-tki-treatment-duration-with-frequency-of-t790m-mutation-in-egfr-mutant-lung-cancer-patients
#19
Norikazu Matsuo, Koichi Azuma, Kazuko Sakai, Satoshi Hattori, Akihiko Kawahara, Hidenobu Ishii, Takaaki Tokito, Takashi Kinoshita, Kazuhiko Yamada, Kazuto Nishio, Tomoaki Hoshino
The most common event responsible for resistance to first- and second-generation (1st and 2nd) epidermal growth factor receptor (EGFR)-tyrosine kinase inhibitor (TKI) is acquisition of T790M mutation. We examined whether T790M is related to clinicopathologic or prognostic factors in patients with relapse of EGFR mutant non-small cell lung cancer (NSCLC) after treatment with 1st or 2nd EGFR-TKIs. We retrospectively reviewed the T790M status and clinical characteristics of 73 patients with advanced or recurrent NSCLC who had been treated with EGFR-TKIs and undergone rebiopsy at Kurume University Hospital between March 2005 and December 2015...
November 4, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27809640/loss-of-functional-osteoprotegerin-more-than-a-skeletal-problem
#20
Corinna Grasemannn, Nicole Unger, Matthias Hövel, Diana Arweiler-Harbeck, Ralf Herrmann, Michael M Schündeln, Oliver Müller, Bernd Schweiger, Ekkehart Lausch, Thomas Meissner, Cordula Kiewert, Berthold P Hauffa, Nick J Shaw
INTRODUCTION: Juvenile Pagets disease (JPD), an ultra-rare, debilitating bone disease stemming from unopposed RANKL action due to loss of functional osteoprotegerin (OPG) is caused by recessive mutations in TNFRSF11B. A genotype-phenotype correlation spanning from mild to very severe forms is described. AIM: To describe the complexity of the human phenotype of OPG deficiency in more detail and to investigate heterozygous mutation carriers for clinical signs of JPD...
November 3, 2016: Journal of Clinical Endocrinology and Metabolism
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