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https://www.readbyqxmd.com/read/29149761/crizotinib-achieves-long-lasting-disease-control-in-advanced-papillary-renal-cell-carcinoma-type-1-patients-with-met-mutations-or-amplification-eortc-90101-create-trial
#1
Patrick Schöffski, Agnieszka Wozniak, Bernard Escudier, Piotr Rutkowski, Alan Anthoney, Sebastian Bauer, Jozef Sufliarsky, Carla van Herpen, Lars H Lindner, Viktor Grünwald, Branko Zakotnik, Evelyne Lerut, Maria Debiec-Rychter, Sandrine Marréaud, Michela Lia, Tiana Raveloarivahy, Sandra Collette, Laurence Albiges
PURPOSE: Papillary renal-cell carcinoma type 1 (PRCC1) is associated with MET gene alterations. Our phase II trial prospectively assessed the efficacy and safety of crizotinib in patients with advanced/metastatic PRCC1 with or without MET mutations (MET+ and MET-). EXPERIMENTAL DESIGN: Eligible patients with reference pathology-confirmed PRCC1 received 250 mg oral crizotinib twice daily. Patients were attributed to MET+/MET- sub-cohorts by the sequencing of exons 16-19 of the MET gene in tumour tissue...
November 14, 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/29141884/a-method-of-high-throughput-functional-evaluation-of-egfr-gene-variants-of-unknown-significance-in-cancer
#2
Shinji Kohsaka, Masaaki Nagano, Toshihide Ueno, Yoshiyuki Suehara, Takuo Hayashi, Naoko Shimada, Kazuhisa Takahashi, Kenji Suzuki, Kazuya Takamochi, Fumiyuki Takahashi, Hiroyuki Mano
Numerous variants of unknown significance (VUS) have been identified through large-scale cancer genome projects, although their functional relevance remains uninvestigated. We developed a mixed-all-nominated-mutants-in-one (MANO) method to evaluate the transforming potential and drug sensitivity of oncogene VUS in a high-throughput manner and applied this method to 101 nonsynonymous epidermal growth factor receptor (EGFR) mutants. We discovered a number of mutations conferring resistance to EGFR tyrosine kinase inhibitors (TKIs), including gefitinib- and erlotinib-insensitive missense mutations within exon 19 and other gefitinib-resistant mutations, such as L833V, A839T, V851I, A871T, and G873E...
November 15, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/29141580/usability-of-human-infinium-methylationepic-beadchip-for-mouse-dna-methylation-studies
#3
Maria Needhamsen, Ewoud Ewing, Harald Lund, David Gomez-Cabrero, Robert Adam Harris, Lara Kular, Maja Jagodic
BACKGROUND: The advent of array-based genome-wide DNA methylation methods has enabled quantitative measurement of single CpG methylation status at relatively low cost and sample input. Whereas the use of Infinium Human Methylation BeadChips has shown great utility in clinical studies, no equivalent tool is available for rodent animal samples. We examined the feasibility of using the new Infinium MethylationEPIC BeadChip for studying DNA methylation in mouse. RESULTS: In silico, we identified 19,420 EPIC probes (referred as mEPIC probes), which align with a unique best alignment score to the bisulfite converted reference mouse genome mm10...
November 15, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/29139619/rare-occurrence-of-egfr-exon-19-deletion-in-invasive-lobular-carcinoma-of-the-breast
#4
Neda A Moatamed, Matthew DeNicola, Phillipp Nham, Ryan T Phan
No abstract text is available yet for this article.
November 15, 2017: Breast Journal
https://www.readbyqxmd.com/read/29138120/recessive-mutation-in-tetraspanin-cd151-causes-kindler-syndrome-like-epidermolysis-bullosa-with-multi-systemic-manifestations-including-nephropathy
#5
Hassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, Hamid Reza Mahmoudi, Andrew Touati, Maryam Abiri, Abdol-Mohammad Kajbafzadeh, Sophia Aristodemou, Lu Liu, John A McGrath, Adam Ertel, Eric Londin, Ariana Kariminejad, Sirous Zeinali, Paolo Fortina, Jouni Uitto
Epidermolysis bullosa (EB) is caused by mutations in as many as 19 distinct genes. We have developed a next-generation sequencing (NGS) panel targeting genes known to be mutated in skin fragility disorders, including tetraspanen CD151 expressed in keratinocytes at the dermal-epidermal junction. The NGS panel was applied to a cohort of 92 consanguineous families of unknown subtype of EB. In one family, a homozygous donor splice site mutation in CD151 (NM_139029; c.351+2T>C) at the exon 5/intron 5 border was identified, and RT-PCR and whole transcriptome analysis by RNA-seq confirmed deletion of the entire exon 5 encoding 25 amino acids...
November 11, 2017: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/29131691/a-new-mutation-of-the-cdh1-gene-in-a-patient-with-an-aggressive-signet-ring-cell-carcinoma-of-the-stomach
#6
Laura Caggiari, Gianmaria Miolo, Vincenzo Canzonieri, Mariangela De Zorzi, Lara Alessandrini, Giuseppe Corona, Renato Cannizzaro, Davide Adriano Santeufemia, Antonio Cossu, Angela Buonadonna, Valli De Re
Germline mutations in CDH1, the gene coding for the E-cadherin adhesion protein, are known to cause hereditary diffuse gastric cancer. We identified a new truncating germline mutation (p.Asp538Thrfs*19) in exon 11 of the CDH1 gene in a 41-year-old male with a diffuse gastric cancer. Although he had no parental history of gastric cancer, the co-segregation study in the family detected the same mutation in his healthy 31-year-old brother. The mutation affects one of the extracellular repeat (CAD repeats) domains which is essential for the homophilic binding specificity that directs "E-cadherin" to bind with itself each others...
November 13, 2017: Cancer Biology & Therapy
https://www.readbyqxmd.com/read/29122835/multiple-hotspot-mutations-scanning-by-single-droplet-digital-pcr
#7
Charles Decraene, Amanda Silveira, François-Clément Bidard, Audrey Vallee, Marc Michel, Samia Melaabi, Anne Vincent-Salomon, Adrien Saliou, Alexandre Houy, Maud Milder, Olivier Lantz, Marc Ychou, Marc G Denis, Jean-Yves Pierga, Marc-Henri Stern, Charlotte Proudhon
BACKGROUND: Progress in the liquid biopsy field, combined with the development of droplet digital PCR (ddPCR)(12), has enabled noninvasive monitoring of mutations with high detection accuracy. However, current assays detect a restricted number of mutations per reaction. ddPCR is a recognized method for detecting alterations previously characterized in tumor tissues, but its use as a discovery tool when the mutation is unknown a priori remains limited. METHODS: We established 2 ddPCR assays detecting all genomic alterations within KRAS() exon 2 and EGFR exon 19 mutation hotspots, which are of clinical importance in colorectal and lung cancer, with use of a unique pair of TaqMan® oligoprobes...
November 9, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/29120087/histological-evolution-from-primary-lung-adenocarcinoma-harboring-egfr-mutation-to-high-grade-neuroendocrine-carcinoma
#8
Jikai Zhao, Jinchen Shao, Ruiying Zhao, Rong Li, Keke Yu, Lei Zhu, Jie Zhang
BACKGROUND: Although patients with EGFR mutated lung adenocarcinoma benefit greatly from tyrosine kinase inhibitors (TKIs), they inevitably develop acquired resistance after an average of 10-14 months of continuous treatment. METHODS: We retrospectively analyzed the clinical and histopathological data of eight patients with primary lung adenocarcinoma harboring EGFR mutations that transformed into high-grade neuroendocrine carcinoma after TKI therapy. Morphology scanning for neuroendocrine differentiation and immunohistochemistry for neuroendocrine markers CD56, chromogranin, and synaptophysin were performed on primary adenocarcinoma tissues and repeated biopsies...
November 9, 2017: Thoracic Cancer
https://www.readbyqxmd.com/read/29113230/squamous-cell-transformation-and-egfr-t790m-mutation-as-acquired-resistance-mechanisms-in-a-patient-with-lung-adenocarcinoma-treated-with-a-tyrosine-kinase-inhibitor-a-case-report
#9
Rossella Bruno, Agnese Proietti, Greta Alì, Gianfranco Puppo, Alessandro Ribechini, Antonio Chella, Gabriella Fontanini
The present case report describes the infrequent coexistence of squamous cell transformation and the epidermal growth factor receptor (EGFR) T790M mutation as resistance mechanisms to first line treatment with tyrosine kinase inhibitors. The patient was a 44-year-old female, diagnosed with a primitive advanced lung adenocarcinoma with bone metastases. The tumor was positive for the EGFR exon 19 deletion, therefore the patient was treated with afatinib (40 mg/day, orally) and radiotherapy for bone lesions. After 16 months, the patient developed resistance...
November 2017: Oncology Letters
https://www.readbyqxmd.com/read/29113190/predictors-of-egfr-mutation-and-factors-associated-with-clinical-tumor-stage-at-diagnosis-experience-of-the-insight-study-in-poland
#10
Rodryg Ramlau, Paweł Krawczyk, Rafał Dziadziuszko, Izabela Chmielewska, Janusz Milanowski, Włodzimierz Olszewski, Katarzyna Stencel, Katarzyna Ramlau-Piątek, Agnieszka Segiet, Michał Skroński, Jacek Grudny, Joanna Chorostowska-Wynimko
Targeted therapy of non-small cell lung cancer (NSCLC) patients with mutations in the epidermal growth factor receptor (EGFR) gene has been associated with improved prognosis. However, there is a shortage on data from real-world clinical practice in management of EGFR-positive NSCLC patients in Poland. The present study retrospectively analyzed data from the INSIGHT study to evaluate the incidence and clinical management of EGFR-positive NSCLC in Poland. The authors additionally aimed to identify predictors of the EGFR mutation and factors associated with clinical stage of the tumor at diagnosis...
November 2017: Oncology Letters
https://www.readbyqxmd.com/read/29111177/association-of-androgen-receptor-expression-on-tumor-cells-and-pd-l1-expression-in-muscle-invasive-and-metastatic-urothelial-carcinoma-insights-for-clinical-research
#11
Andrea Necchi, Salvatore Lo Vullo, Patrizia Giannatempo, Daniele Raggi, Federica Perrone, Nicola Nicolai, Mario Catanzaro, Davide Biasoni, Tullio Torelli, Luigi Piva, Silvia Stagni, Roberto Salvioni, Luigi Mariani, Maurizio Colecchia
BACKGROUND: Limited information is available regarding the use of androgen receptor (AR) immunohistochemical expression in muscle-invasive or metastatic urothelial carcinoma. We aimed to evaluate the frequency of AR expression by tumor cells (TC), its prognostic role, and its relationship with programmed cell-death ligand 1 (PD-L1) expression in these patients. PATIENTS AND METHODS: From September 2015 to January 2017, we collected tissue from patients who received platinum-based chemotherapy at our center...
October 7, 2017: Clinical Genitourinary Cancer
https://www.readbyqxmd.com/read/29110841/heterogeneous-resistance-mechanisms-in-an-egfr-exon-19-mutated-non-small-cell-lung-cancer-patient-treated-with-erlotinib-persistent-fgfr3-mutation-localized-transformation-to-egfr-mutated-sclc-and-acquired-t790m-egfr-mutation
#12
Eric Santoni-Rugiu, Morten Grauslund, Linea C Melchior, Junia C Costa, Jens B Sørensen, Edyta M Urbanska
Patients with epidermal growth factor receptor (EGFR) gene-mutated non-small cell lung cancer (NSCLC) obtain substantial clinical benefit from EGFR tyrosine-kinase inhibitors (TKIs), but will ultimately develop TKI-resistance resulting in median progression-free survival of 9-15 months during first-line TKI-therapy. However, type and timing of TKI-resistance cannot be predicted and several mechanisms may simultaneously/subsequently occur during TKI-treatment. In this respect, we present a 49 year-old Caucasian male ex-smoker with metastatic pulmonary adenocarcinoma (ADC) that concomitantly harbored an EGFR exon 19-mutation (p...
November 2017: Lung Cancer: Journal of the International Association for the Study of Lung Cancer
https://www.readbyqxmd.com/read/29110716/postoperative-survival-of-egfr-tki-targeted-therapy-in-non-small-cell-lung-cancer-patients-with-egfr-19-or-21-mutations-a-retrospective-study
#13
Wenjing Yang, Yibo Gao, Xuelian Li, Jing Zhang, Tiejun Liu, Xiaoli Feng, Hao Pan, Xiaofan Yang, Shuanghua Xie, Xiaoshuang Feng, Zhangyan Lv, Yonggang Wang, Zhaoli Chen, Jie He
BACKGROUND: The aim of this retrospective study is to identify epidermal growth factor receptor (EGFR) mutations in non-small cell lung cancer patients and to compare the long-term postoperative outcomes in different EGFR-TKI-targeted therapy effects between the different EGFR mutation groups. METHODS: A total of 2094 postoperative non-small cell lung cancer (NSCLC) patients with EGFR gene detection were collected in the Department of Pathology in the Cancer Hospital Chinese Academy of Medical Sciences from January 2003 to January 2014...
November 6, 2017: World Journal of Surgical Oncology
https://www.readbyqxmd.com/read/29106293/worldwide-frequency-of-commonly-detected-egfr-mutations
#14
Rondell P Graham, Amanda L Treece, Neal I Lindeman, Patricia Vasalos, Mu Shan, Lawrence J Jennings, David L Rimm
CONTEXT: - Recurrent epidermal growth factor receptor (EGFR) mutations are seen in a subset of pulmonary adenocarcinomas. These mutations are targeted by EGFR inhibitors and are a biomarker for response to EGFR inhibitor therapies. Initial data have indicated an increased frequency of activating EGFR mutations in nonsmoking Asian females. However, there are very few studies of global scope that address the question of mutation distribution across the population of lung cancer. OBJECTIVE: - To determine the frequency of EGFR mutations in exons 18 through 21 detected in clinical laboratories participating in the College of American Pathologists proficiency testing program for EGFR in calendar year 2013...
November 6, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/29104613/impact-of-exon-19-versus-exon-21-egfr-activating-mutation-on-outcomes-with-upfront-pemetrexed-carboplatin-chemotherapy
#15
Vanita Noronha, Vijay Patil, Amit Joshi, Anuradha Chougule, Atanu Bhattacharjee, Rajiv Kumar, Sucheta More, Supriya Goud, Ashay Karpe, Anant Ramaswamy, Nikhil Pande, Arun Chandrasekharan, Alok Goel, Vikas Talreja, Abhishek Mahajan, Amit Janu, Nilendu Purandare, Kumar Prabhash
Background: EGFR mutation subtype is a recognised factor impacting outcomes of patients receiving oral tyrosine kinase inhibitors (TKIs) in non-small-cell lung cancer (NSCLC). Evidence for the effect of this factor on outcomes in patients receiving pemetrexed is limited. Methods: We completed a study comparing pemetrexed-platinum combination versus oral TKI in EGFR mutation-positive patients in lung cancer. We analysed the impact of EGFR mutation subtype, specifically, exon 19 and 21 on the PFS and OS of patients treated with pemetrexed (500 mg/m(2) on day 1) and carboplatin (AUC 5 on day 1) as first-line therapy...
2017: Ecancermedicalscience
https://www.readbyqxmd.com/read/29101518/phase1-study-of-cisplatin-plus-pemetrexed-with-erlotinib-and-bevacizumab-for-chemotherapy-na%C3%A3-ve-advanced-non-squamous-non-small-cell-lung-cancer-with-egfr-mutations
#16
Motohiro Tamiya, Akihiro Tamiya, Takayuki Shiroyama, Sawa Takeoka, Yujiro Naito, Naoki Omachi, Yohei Kimura, Naoko Morishita, Hidekazu Suzuki, Norio Okamoto, Kyoichi Okishio, Tomoya Kawaguchi, Shinji Atagi, Tomonori Hirashima
Background Cisplatin and pemetrexed are very effective against advanced non-squamous non-small cell lung cancer (NSCLC) without EGFR mutations. Erlotinib plus bevacizumab are highly effective against advanced NSCLCs with activating EGFR mutations. We performed this phase I 'Quartet Trial' to determine the safety and efficacy of all 4 agents as a first-line treatment for non-squamous NSCLC patients harboring activating EGFR mutations. Patients and Methods Patients received escalating quartet-agent doses every 3 weeks for 4 cycles...
November 4, 2017: Investigational New Drugs
https://www.readbyqxmd.com/read/29100547/efficient-generation-of-p53-biallelic-knockout-diannan-miniature-pigs-via-talens-and-somatic-cell-nuclear-transfer
#17
Youfeng Shen, Kaixiang Xu, Zaimei Yuan, Jianxiong Guo, Heng Zhao, Xuezeng Zhang, Lu Zhao, Yubo Qing, Honghui Li, Weirong Pan, Baoyu Jia, Hong-Ye Zhao, Hong-Jiang Wei
BACKGROUND: Pigs have many features that make them attractive as biomedical models for various diseases, including cancer. P53 is an important tumor suppressor gene that exerts a central role in protecting cells from oncogenic transformation and is mutated in a large number of human cancers. P53 mutations occur in almost every type of tumor and in over 50% of all tumors. In a recent publication, pigs with a mutated P53 gene were generated that resulted in lymphoma and renal and osteogenic tumors...
November 3, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/29097164/improved-detection-of-egfr-mutations-in-the-tumor-cells-enriched-from-the-malignant-pleural-effusion-of-non-small-cell-lung-cancer-patient
#18
Yi Wang, Zhian Liu, Hanlu Yin, Jiahua Hu, Shanliang Zhong, Wenping Chen, Jianhua Zhao
Previous studies focus on developing high sensitive PCR-related technologies to detect EGFR gene mutation in malignant pleural effusion (MPE) of non-small cell lung cancer patient (NSCLC) instead of improving the quality of clinical samples themselves. We therefore hypothesized that the enrichment of tumor cells in MPE could improve the quality of MPE for the more accurate detection of EGFR gene mutation in the patients with NSCLC. MPE were collected from 28 patients with NSCLC. The tumor cells in MPE were firstly enriched by the depletion of leukocytes with bi-antibodies and identified by multiple flow cytometry...
October 31, 2017: Gene
https://www.readbyqxmd.com/read/29094453/uterine-metastasis-of-lung-adenocarcinoma-under-molecular-target-therapy-with-epidermal-growth-factor-receptor-tyrosine-kinase-inhibitors-a-case-report-and-review-of-the-literature
#19
Mayu Shibata, Masato Shizu, Kazuko Watanabe, Akihiro Takeda
A 63-year-old woman presented with abnormal vaginal bleeding. Her disease history was significant, and included advanced lung adenocarcinoma with a deletion mutation in exon 19 of the epidermal growth factor receptor (EGFR) gene, which was managed by concurrent chemoradiotherapy, followed by molecular targeted therapy with tyrosine kinase inhibitors (TKIs) for a two-year period. Contrast-enhanced computed tomography showed the enlargement of a previously suspicious myoma node, with peripheral enhancement. Hemorrhagic necrosis was also observed on magnetic resonance imaging...
November 2, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/29093724/efficient-crispr-cas9-genome-editing-of-phytoene-desaturase-in-cassava
#20
John Odipio, Titus Alicai, Ivan Ingelbrecht, Dmitri A Nusinow, Rebecca Bart, Nigel J Taylor
CRISPR/Cas9 has become a powerful genome-editing tool for introducing genetic changes into crop species. In order to develop capacity for CRISPR/Cas9 technology in the tropical staple cassava (Manihot esculenta), the Phytoene desaturase (MePDS) gene was targeted in two cultivars using constructs carrying gRNAs targeting two sequences within MePDS exon 13. After Agrobacterium-mediated delivery of CRISPR/Cas9 reagents into cassava cells, both constructs induced visible albino phenotypes within cotyledon-stage somatic embryos regenerating on selection medium and the plants regenerated therefrom...
2017: Frontiers in Plant Science
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