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https://www.readbyqxmd.com/read/28527899/egfr-mutation-analysis-for-prospective-patient-selection-in-two-phase-ii-registration-studies-of-osimertinib
#1
Suzanne Jenkins, James Chih-Hsin Yang, Pasi A Jänne, Kenneth S Thress, Karen Yu, Rachel Hodge, Susie Weston, Simon Dearden, Sabina Patel, Mireille Cantarini, Frances A Shepherd
INTRODUCTION: Osimertinib is an oral, CNS active, epidermal growth factor receptor tyrosine kinase inhibitor (EGFR-TKI) for the treatment of EGFR T790M-positive advanced non-small cell lung cancer (NSCLC). Here we evaluate EGFR mutation frequencies in two Phase II studies of osimertinib (AURA extension and AURA2). METHODS: Patients with EGFR mutation-positive advanced NSCLC provided tumor samples following progression on their latest line of therapy for mandatory central T790M testing for study selection criteria...
May 17, 2017: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/28525989/determination-of-genetic-effects-of-atf3-and-cdkn1a-genes-on-milk-yield-and-compositions-in-chinese-holstein-population
#2
REVIEW
Bo Han, Weijun Liang, Lin Liu, Yanhua Li, Dongxiao Sun
BACKGROUND: Our previous RNA-sequencing study revealed that the ATF3 and CDKN1A genes were remarkably differentially expressed between the mammary glands of lactating Holstein cows with extremely high and low milk protein and fat percentage so that both of them were considered as candidates for milk composition. Herein, we further verified whether these genes have genetic effects on milk production traits in a Chinese Holstein cow population. RESULTS: By re-sequencing the entire coding and regulatory regions, we identified four SNPs in 5'promoter region, two in exons, seven in 3' un-translated region (UTR), and six in 3'flanking region of ATF3 gene, and one SNP in exon 5, two in 3'UTR, and two in 3'flanking region of CDKN1A gene...
May 19, 2017: BMC Genetics
https://www.readbyqxmd.com/read/28521875/exome-sequencing-reveals-a-de-novo-pold1-mutation-causing-phenotypic-variability-in-mandibular-hypoplasia-deafness-progeroid-features-and-lipodystrophy-syndrome-mdpl
#3
Sahar Elouej, Ana Beleza-Meireles, Richard Caswell, Kevin Colclough, Sian Ellard, Jean Pierre Desvignes, Christophe Béroud, Nicolas Lévy, Shehla Mohammed, Annachiara De Sandre-Giovannoli
BACKGROUND: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) is an autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, a characteristic facial appearance and metabolic abnormalities. This syndrome is caused by heterozygous de novo mutations in the POLD1 gene. To date, 19 patients with MDPL have been reported in the literature and among them 14 patients have been characterized at the molecular level. Twelve unrelated patients carried a recurrent in-frame deletion of a single codon (p...
June 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/28521435/a-prospective-cohort-study-of-patients-with-non-squamous-non-small-cell-lung-cancer-treated-with-bevacizumab
#4
Katsuhiko Naoki, Yuichiro Takeda, Kenzo Soejima, Daisuke Arai, Go Naka, Seisuke Nagase, Ken Arimura, Toshinori Kanemura, Tatsuo Ohhira, Norihiko Ikeda
First-line chemotherapy regimens that include bevacizumab (Bev) have been hypothesized to improve outcomes in patients with advanced non-squamous non-small cell lung cancer (non-sq NSCLC). Although approved to treat NSCLC in 2009, insufficient data exist on the clinical uses of Bev in Japan. The present study prospectively evaluated the efficacy and safety of Bev-containing combination chemotherapy. Eligible patients exhibited histologically or cytologically documented advanced or recurrent non-sq NSCLC. Patients were administered 15 mg/kg Bev with standard chemotherapy followed by maintenance Bev...
May 2017: Oncology Letters
https://www.readbyqxmd.com/read/28520821/the-percentage-of-epidermal-growth-factor-receptor-egfr-mutated-neoplastic-cells-correlates-to-response-to-tyrosine-kinase-inhibitors-in-lung-adenocarcinoma
#5
Dario de Biase, Giovenzio Genestreti, Michela Visani, Giorgia Acquaviva, Monica Di Battista, Giovanna Cavallo, Alexandro Paccapelo, Alessandra Cancellieri, Rocco Trisolini, Roberta Degli Esposti, Stefania Bartolini, Annalisa Pession, Giovanni Tallini, Alba A Brandes
BACKGROUND: Epidermal Growth Factor Receptor (EGFR) molecular analysis is performed to assess the responsiveness to Tyrosine Kinase Inhibitors (TKIs) in patients with Non-Small Cell Lung Cancer (NSCLC). The existence of molecular intra-tumoral heterogeneity has been observed in lung cancers. The aim of the present study is to investigate if the percentage of mutated neoplastic cells within the tumor sample might influence the responsiveness to TKIs treatment. MATERIAL AND METHODS: A total of 931 cases of NSCLC were analyzed for EGFR mutational status (exon 18, 19, 20, 21) using Next Generation Sequencer...
2017: PloS One
https://www.readbyqxmd.com/read/28513565/epidermal-growth-factor-receptor-cell-proliferation-signaling-pathways
#6
REVIEW
Ping Wee, Zhixiang Wang
The epidermal growth factor receptor (EGFR) is a receptor tyrosine kinase that is commonly upregulated in cancers such as in non-small-cell lung cancer, metastatic colorectal cancer, glioblastoma, head and neck cancer, pancreatic cancer, and breast cancer. Various mechanisms mediate the upregulation of EGFR activity, including common mutations and truncations to its extracellular domain, such as in the EGFRvIII truncations, as well as to its kinase domain, such as the L858R and T790M mutations, or the exon 19 truncation...
May 17, 2017: Cancers
https://www.readbyqxmd.com/read/28500830/association-between-tpo-asn698thr-and-thr725pro-gene-polymorphisms-and-serum-anti-tpo-levels-in-iranian-patients-with-subclinical-hypothyroidism
#7
Amirhosein Khoshi, Alireza Sirghani, Mehran Ghazisaeedi, Ali Zare Mahmudabadi, Amir Azimian
OBJECTIVE: Subclinical hypothyroidism (SCH) is defined as high levels of TSH in the presence of normal levels of serum FT4. Since thyroid peroxidase (TPO) plays a key role in thyroid hormone synthesis, variations in the TPO gene can change the enzyme structure and result in the production of anti-TPO antibodies. The aim of this study was to examine the relationship between the Asn698Thr (A2095C) and Thr725Pro (A2173C) polymorphisms of the TPO gene and anti-TPO levels in patients with SCH...
January 2017: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28499641/outcomes-of-research-biopsies-in-clinical-trials-of-egfr-mutation-positive-non-small-cell-lung-cancer-patients-pretreated-with-egfr-tyrosine-kinase-inhibitors
#8
Bin-Chi Liao, Ya-Ying Bai, Jih-Hsiang Lee, Chia-Chi Lin, Shu-Yung Lin, Yee-Fan Lee, Chao-Chi Ho, Jin-Yuan Shih, Yeun-Chung Chang, Chong-Jen Yu, James Chih-Hsin Yang, Pan-Chyr Yang
BACKGROUND/PURPOSE: Research biopsies (RBs) are crucial for developing novel molecular targeted agents. However, the safety and diagnostic yields of RBs have not been investigated in EGFR mutation-positive non-small cell lung cancer (NSCLC) patients pretreated with epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs). METHODS: We searched the medical records of NSCLC patients who participated in lung cancer clinical trials and underwent mandatory RBs between 2012 and 2014 at our institution...
May 9, 2017: Journal of the Formosan Medical Association, Taiwan Yi Zhi
https://www.readbyqxmd.com/read/28496005/circulating-plasma-micrornas-as-potential-markers-to-identify-egfr-mutation-status-and-to-monitor-epidermal-growth-factor-receptor-tyrosine-kinase-inhibitor-treatment-in-patients-with-advanced-non-small-cell-lung-cancer
#9
Lili Qu, Liangliang Li, Xiaofei Zheng, Hanjiang Fu, Chuanhao Tang, Haifeng Qin, Xiaoyan Li, Hong Wang, Jianjie Li, Weixia Wang, Shaoxing Yang, Lin Wang, Guanhua Zhao, Panpan Lv, Yangyang Lei, Min Zhang, Hongjun Gao, Santai Song, Xiaoqing Liu
We aimed to identify a panel of circulating plasma microRNAs that can predict EGFR mutation status and monitor epidermal growth factor receptor-tyrosine kinase inhibitor treatment in patients with non-small cell lung cancer. Microarrays were performed for the preliminary screening of dysregulated microRNAs in 9 EGFR mutation-positive patients versus healthy controls. MiR-107 was upregulated and miR-195 was downregulated in the exon 19 deletion versus wild-type group. The areas under the receiver operating characteristic curves for miR-107, miR-195, and a panel of these 2 microRNAs were 0...
April 25, 2017: Oncotarget
https://www.readbyqxmd.com/read/28490462/genome-wide-dna-methylation-analysis-reveals-gabbr2-as-a-novel-epigenetic-target-for-egfr-19-deletion-lung-adenocarcinoma-with-induction-erlotinib-treatment
#10
Xiaomin Niu, Fatao Liu, Yi Zhou, Zhen Zhou, Daizhan Zhou, Ting Wang, Ziming Li, Xiangyun Ye, Yongfeng Yu, Xiaoling Weng, Hong Zhang, Junyi Ye, Meilin Liao, Yun Liu, Zhiwei Chen, Shun Lu
Purpose: The last decade has witnessed the rapid development of personalized targeted therapies in lung cancer. It is still unclear whether epigenetic changes are involved in the response to tyrosine kinase inhibitor (TKI) treatment in epidermal growth factor receptor (EGFR) mutated lung cancer. <p>Experimental Design: Methyl-sensitive cut counting sequencing (MSCC) was applied to investigate the methylation changes in paired tissues before and after erlotinib treatment for 42 days with partial response (PR) from stage IIIa (N2) lung adenocarcinoma patients (N=2) with EGFR 19 deletion...
May 10, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28490045/uterine-inflammatory-myofibroblastic-tumors-frequently-harbor-alk-fusions-with-igfbp5-and-thbs1
#11
Josh D Haimes, Colin J R Stewart, Brian A Kudlow, Brady P Culver, Bo Meng, Eleanor Koay, Ann Whitehouse, Nichola Cope, Jen-Chieh Lee, Tony Ng, W Glenn McCluggage, Cheng-Han Lee
Inflammatory myofibroblastic tumor (IMT) can occur in a number of anatomic sites, including the uterus. Like its soft tissue counterpart, uterine IMT frequently expresses ALK and harbors ALK genetic rearrangements. The aim of this study is to fully characterize the genetic fusions that occur in uterine IMT. We studied 11 uterine IMTs with typical histology and 8 uterine myxoid smooth muscle tumors (5 leiomyomas, 1 smooth muscle tumor of uncertain malignant potential, and 2 leiomyosarcomas) in which the differential of IMT was considered, using a RNA-sequencing-based fusion assay to detect genetic fusions involving ALK, ROS1, RET, NTRK1/3, and other genes...
June 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28489575/evaluation-of-99mtc-hynic-mpg-as-a-novel-spect-radiotracer-to-detect-egfr-activating-mutations-in-nsclc
#12
Zunyu Xiao, Yan Song, Wang Kai, Xilin Sun, Baozhong Shen
Tyrosine kinase inhibitors (EGFR-TKIs) targeting the epidermal growth factor receptor (EGFR) have been used in non-small cell lung carcinoma (NSCLC) for years with promising results, in particular in patients with activating mutations in the EGFR kinase domain (exon 19 E746-A750 deletion or exon 21 L858R point mutation). However, despite their great success in the clinic, a significant number of patients do not respond to EGFR-TKIs, such as those carrying the L858R/T790M mutation or EGFR wild type. Thus, detecting the EGFR mutation status before EGFR-TKIs therapy is essential to ensure its efficacy...
April 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/28487968/a-pilot-study-identifying-a-potential-plasma-biomarker-for-determining-egfr-mutations-in-exons%C3%A2-19-or-21-in-lung-cancer-patients
#13
Aryo D Pamungkas, Carl A Medriano, Eunjung Sim, Sungyong Lee, Youngja H Park
The most common type of lung cancer is non‑small cell lung cancer (NSCLC), which is frequently characterized by a mutation in the epidermal growth factor receptor (EGFR). Determining the presence of an EGFR mutation in lung cancer is important, as it determines the type of treatment that a patients will receive. Therefore, the aim of the present study was to apply high‑resolution metabolomics (HRM) using liquid chromatography‑mass spectrometry to identify significant compounds in human plasma samples obtained from South Korean NSCLC patients, as potential biomarkers for providing early detection and diagnosis of minimally‑invasive NSCLC...
June 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28485054/egfr-gene-mutation-in-gastrointestinal-stromal-tumors
#14
Shan-Shan Shi, Nan Wu, Yan He, Xue Wei, Qiu-Yuan Xia, Xuan Wang, Sheng-Bin Ye, Rui Li, Qiu Rao, Xiao-Jun Zhou
AIMS: The aim of this study was to evaluate the mutation status of EGFR in gastrointestinal stromal tumours and its association with various clinicopathological variables as well as to further discuss its effects of EGFR mutations on tumor formation and progression. METHODS: A well-characterized cohort of 323 GISTs, obtained between 2010 and 2015 from the surgical pathology files of at the Department of Pathology of the Nanjing Jinling Hospital, was screened for mutations in exon 19 and 21 of the EGFR gene...
May 9, 2017: Histopathology
https://www.readbyqxmd.com/read/28484037/chromosome-level-genome-assembly-and-transcriptome-of-the-green-alga-chromochloris-zofingiensis-illuminates-astaxanthin-production
#15
Melissa S Roth, Shawn J Cokus, Sean D Gallaher, Andreas Walter, David Lopez, Erika Erickson, Benjamin Endelman, Daniel Westcott, Carolyn A Larabell, Sabeeha S Merchant, Matteo Pellegrini, Krishna K Niyogi
Microalgae have potential to help meet energy and food demands without exacerbating environmental problems. There is interest in the unicellular green alga Chromochloris zofingiensis, because it produces lipids for biofuels and a highly valuable carotenoid nutraceutical, astaxanthin. To advance understanding of its biology and facilitate commercial development, we present a C. zofingiensis chromosome-level nuclear genome, organelle genomes, and transcriptome from diverse growth conditions. The assembly, derived from a combination of short- and long-read sequencing in conjunction with optical mapping, revealed a compact genome of ∼58 Mbp distributed over 19 chromosomes containing 15,274 predicted protein-coding genes...
May 8, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28476735/identification-of-targetable-alk-rearrangements-in-pancreatic-ductal-adenocarcinoma
#16
Aatur D Singhi, Siraj M Ali, Jill Lacy, Andrew Hendifar, Khanh Nguyen, Jamie Koo, Jon H Chung, Joel Greenbowe, Jeffrey S Ross, Marina N Nikiforova, Herbert J Zeh, Inderpal S Sarkaria, Anil Dasyam, Nathan Bahary
Pancreatic ductal adenocarcinoma (PDAC) is one of the most lethal cancers, with a 5-year survival of 8%. Current therapeutic regimens are largely ineffective and underscore the need for novel treatment strategies. Chromosomal rearrangements involving the anaplastic lymphoma kinase (ALK) gene have been identified in several neoplasms. In addition, ALK protein inhibitors have proven efficacy in patients with ALK-rearranged tumors. However, ALK translocations in PDAC have not been described. Through comprehensive genomic profiling of 3,170 PDACs, we identified 5 cases (0...
May 2017: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/28468035/-clinicopathologic-characteristics-of-epidermal-growth-factor-receptor-mutations-in-non-small-cell-lung-cancer-in-xinjiang-region
#17
Y Shi, Z Pan, W L Cui, Z P Ma, X L Pang, W Zhang, Y Q Ma
Objective: To investigate the point mutation of epidermal growth factor receptor (EGFR) gene and clinicopathologic characteristics in patients with non-small cell lung cancers(NSCLC)of Xinjiang region. Methods: Five-hundred and eighty-two cases of paraffin-embedded tissue in patients with NSCLC were collected between January 2013 and December 2015 in the First Affiliated Hospital of Xinjiang Medical University. The DNA was extracted from these tissues by Qiagen kit, to test thirty-two mutations in EGFR exons 18, 19, 20 and 21 using fluorescent quantitative qRT-PCR technology by TaqMan probe; the clinicopathologic features of patients were analyzed according to the mutation status of EGFR...
May 8, 2017: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/28465148/competitive-pcr-high-resolution-melting-analysis-c-pcr-hrma-for-large-genomic-rearrangements-lgrs-detection-a-new-approach-to-assess-quantitative-status-of-brca1-gene-in-a-reference-laboratory
#18
Angelo Minucci, Elisa De Paolis, Paola Concolino, Maria De Bonis, Roberta Rizza, Giulia Canu, Giovanni Luca Scaglione, Flavio Mignone, Giovanni Scambia, Cecilia Zuppi, Ettore Capoluongo
AIM OF THE STUDY: Evaluation of copy number variation (CNV) in BRCA1/2 genes, due to large genomic rearrangements (LGRs), is a mandatory analysis in hereditary breast and ovarian cancers families, if no pathogenic variants are found by sequencing. LGRs cannot be detected by conventional methods and several alternative methods have been developed. Since these approaches are expensive and time consuming, identification of alternative screening methods for LGRs detection is needed in order to reduce and optimize the diagnostic procedure...
April 30, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28463756/impact-of-braf-and-ras-mutations-on-first-line-efficacy-of-folfiri-plus-cetuximab-versus-folfiri-plus-bevacizumab-analysis-of-the-fire-3-aio-krk-0306-study
#19
S Stintzing, L Miller-Phillips, D P Modest, L Fischer von Weikersthal, T Decker, A Kiani, U Vehling-Kaiser, S-E Al-Batran, T Heintges, C Kahl, G Seipelt, F Kullmann, M Stauch, W Scheithauer, S Held, M Moehler, A Jagenburg, T Kirchner, A Jung, V Heinemann
BACKGROUND: RAS and BRAF mutations have been identified as negative prognostic factors in metastatic colorectal cancer. Efficacy of 5-fluorouracil, leucovorin, irinotecan (FOLFIRI) plus bevacizumab in patients with RAS-mutant tumours needs to be further evaluated. Whether to treat patients with BRAF-mutant tumours with either bevacizumab or anti-epidermal growth factor receptor (EGFR) antibodies remains unclear. METHODS: Patients treated within the FIRE-3 trial were retrospectively tested for BRAF and RAS mutations using formalin fixated paraffin embedded (FFPE) tumour material applying pyrosequencing for KRAS and NRAS exon 2, 3 and 4 mutations as far as for BRAF mutations...
April 29, 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/28453743/targeted-next-generation-sequencing-of-pediatric-neuro-oncology-patients-improves-diagnosis-identifies-pathogenic-germline-mutations-and-directs-targeted-therapy
#20
Cassie N Kline, Nancy M Joseph, James P Grenert, Jessica van Ziffle, Eric Talevich, Courtney Onodera, Mariam Aboian, Soonmee Cha, David R Raleigh, Steve Braunstein, Joseph Torkildson, David Samuel, Michelle Bloomer, Alejandra G de Alba Campomanes, Anuradha Banerjee, Nicholas Butowski, Corey Raffel, Tarik Tihan, Andrew W Bollen, Joanna J Phillips, W Michael Korn, Iwei Yeh, Boris C Bastian, Nalin Gupta, Sabine Mueller, Arie Perry, Theodore Nicolaides, David A Solomon
Background.: Molecular profiling is revolutionizing cancer diagnostics and leading to personalized therapeutic approaches. Herein we describe our clinical experience performing targeted sequencing for 31 pediatric neuro-oncology patients. Methods.: We sequenced 510 cancer-associated genes from tumor and peripheral blood to identify germline and somatic mutations, structural variants, and copy number changes. Results.: Genomic profiling was performed on 31 patients with tumors including 11 high-grade gliomas, 8 medulloblastomas, 6 low-grade gliomas, 1 embryonal tumor with multilayered rosettes, 1 pineoblastoma, 1 uveal ganglioneuroma, 1 choroid plexus carcinoma, 1 chordoma, and 1 high-grade neuroepithelial tumor...
May 1, 2017: Neuro-oncology
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