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https://www.readbyqxmd.com/read/28625646/egfr-exon-18-dele709_t710insd-mutated-stage-iv-lung-adenocarcinoma-with-response-to-afatinib
#1
Uroosa Ibrahim, Amina Saqib, Jean Paul Atallah
Epidermal Growth Factor Receptor (EGFR) targetable mutations have changed the landscape for treatment of advanced stage non-small cell lung cancer in recent years. Three generations of tyrosine kinase inhibitors are now available to target cancers harboring these mutations. The most common EGFR mutations occur in Exons 19 and 21. Exon 18 mutations are extremely rare comprising of 4.1% of all EGFR mutations and the delE709_T710insD mutation accounts for only 0.16% of mutations when occurring as a sole mutation, however, the frequency can vary with the kit utilized for testing...
June 2017: Lung Cancer: Journal of the International Association for the Study of Lung Cancer
https://www.readbyqxmd.com/read/28625519/multiplex-ultrasensitive-genotyping-of-patients-with-non-small-cell-lung-cancer-for-epidermal-growth-factor-receptor-egfr-mutations-by-means-of-picodroplet-digital-pcr
#2
Masaru Watanabe, Tomoya Kawaguchi, Shun-Ichi Isa, Masahiko Ando, Akihiro Tamiya, Akihito Kubo, Hideo Saka, Sadanori Takeo, Hirofumi Adachi, Tsutomu Tagawa, Osamu Kawashima, Motohiro Yamashita, Kazuhiko Kataoka, Yukito Ichinose, Yukiyasu Takeuchi, Katsuya Watanabe, Akihide Matsumura, Yasuhiro Koh
Epidermal growth factor receptor (EGFR) mutations have been used as the strongest predictor of effectiveness of treatment with EGFR tyrosine kinase inhibitors (TKIs). Three most common EGFR mutations (L858R, exon 19 deletion, and T790M) are known to be major selection markers for EGFR-TKIs therapy. Here, we developed a multiplex picodroplet digital PCR (ddPCR) assay to detect 3 common EGFR mutations in 1 reaction. Serial-dilution experiments with genomic DNA harboring EGFR mutations revealed linear performance, with analytical sensitivity ~0...
June 7, 2017: EBioMedicine
https://www.readbyqxmd.com/read/28625318/prognostic-value-of-different-allelic-polymorphism-of-aldosterone-synthase-receptor-in-a-congestive-heart-failure-european-continental-ancestry-population
#3
Mauro Feola, Martino Monteverde, Daniela Vivenza, Marzia Testa, Laura Leto, Valentina Astesana, Francesco Mussapi, Antonello Vado, Marco Merlano, Cristiana Lo Nigro
Aldosterone synthase (CYP11B2) is as an 9-exon gene on chromosome 8q22 and exists as a common single nucleotide polymorphism C-T transition for position -344. The aim of this study was to assess the -344T/C polymorphism of the aldosterone synthase promoter in a European continental ancestry congestive heart failure (CHF) population. METHODS: Patients discharged after an acute decompensation were enrolled and underwent echocardiography, determination of BNP, evaluation of non-invasive cardiac outputs and determination of -344 T/C SNP in the aldosterone synthase gene...
February 2017: Archives of Medical Research
https://www.readbyqxmd.com/read/28624954/ar-mutations-in-28-patients-with-androgen-insensitivity-syndrome-prader-grade-0-3
#4
Yi Wang, Chunxiu Gong, Xiou Wang, Miao Qin
We investigated the androgen receptor (AR) gene mutation profiles of Chinese patients exhibiting severe androgen insensitivity syndrome (AIS) phenotypes. The present study enrolled 28 patients with genetically diagnosed AIS, who presented with severe phenotypes (Prader grade 0-3). Patients and some family members were screened via amplification and sequencing of their AR exons 1-8, including the corresponding intronic flanking regions. Luteinizing (LH), follicle-stimulating (FSH), and testosterone (T) hormone levels were found to be slightly, but not significantly, higher in patients with complete androgen insensitivity syndrome (CAIS) than in patients with partial androgen insensitivity syndrome (PAIS) (P>0...
June 14, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28621321/bcor-is-a-robust-diagnostic-immunohistochemical-marker-of-genetically-diverse-high-grade-endometrial-stromal-sarcoma-including-tumors-exhibiting-variant-morphology
#5
Sarah Chiang, Cheng-Han Lee, Colin J R Stewart, Esther Oliva, Lien N Hoang, Rola H Ali, Martee L Hensley, Javier A Arias-Stella, Denise Frosina, Achim A Jungbluth, Ryma Benayed, Marc Ladanyi, Meera Hameed, Lu Wang, Yu-Chien Kao, Cristina R Antonescu, Robert A Soslow
Recognition of high-grade endometrial stromal sarcoma is important because of its aggressive clinical behavior. Morphologic features of YWHAE-NUTM2 high-grade endometrial stromal sarcoma may overlap with other uterine sarcoma types. BCOR immunoexpression was studied in these tumors and their morphologic mimics to assess its diagnostic utility. BCOR immunohistochemical staining was performed on archival tissue from 28 high-grade endometrial stromal sarcomas with classic morphology (20 YWHAE-NUTM2, 5 ZC3H7B-BCOR, 3 BCOR-ZC3H7B), 3 high-grade endometrial stromal sarcomas with unusual morphology and unknown gene rearrangement status, 66 low-grade endometrial stromal sarcomas, 21 endometrial stromal nodules, 38 uterine leiomyosarcomas, and 19 uterine leiomyomas...
June 16, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28618947/treatment-outcome-comparisons-between-exons-19-and-21-egfr-mutations-for-non-small-cell-lung-cancer-patients-with-malignant-pleural-effusion-after-first-line-and-second-line-tyrosine-kinase-inhibitors
#6
Zhen Zheng, Deyao Xie, Huafang Su, Baochai Lin, Lihao Zhao, Xia Deng, Hanbin Chen, Shaoran Fei, Xiance Jin, Congying Xie
Recent studies demonstrated a significantly increased frequency of epidermal growth factor receptor (EGFR) gene mutations in non-small cell lung cancer (NSCLC) patients with malignant pleural effusions (MPEs). The purpose of this study is to investigate the effect of first-line and second-line EGFR-tyrosine kinase inhibitors (TKIs) in the treatment of NSCLC with MPEs harboring exon 19 deletion and L858R mutation. From 2010 to 2015, 203 NSCLC patients with MPEs harboring EGFR mutation treated with EGFR-TKIs were reviewed...
June 2017: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
https://www.readbyqxmd.com/read/28608987/smarca4-inactivating-mutations-cause-concomitant-coffin-siris-syndrome-microphthalmia-and-small-cell-carcinoma-of-the-ovary-hypercalcemic-type
#7
Edoardo Errichiello, Noor Mustafa, Annalisa Vetro, Lucia Dora Notarangelo, Hugo de Jonge, Berardo Rinaldi, Debora Vergani, Sabrina Rita Giglio, Patrizia Morbini, Orsetta Zuffardi
SMARCA4 chromatin remodeling factor is mutated in 11% of Coffin-Siris syndrome (CSS) patients and in almost all small cell carcinoma of the ovary hypercalcemic type (SCCOHT) tumors. Missense mutations with gain-of-function or dominant-negative effects are associated with CSS, whereas inactivating mutations, leading to loss of SMARCA4 expression, have been exclusively found in SCCOHT. We applied whole exome sequencing to study a 15-year-old patient with mild CSS who concomitantly developed SCCOHT at age 13 years...
June 13, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28607607/microrna-signature-of-lung-adenocarcinoma-with-egfr-exon-19-deletion
#8
Lixia Ju, Mingquan Han, Xuefei Li, Chao Zhao
The findings of EGFR mutations and the development of targeted therapies have significantly improved the overall survival of lung cancer patients. Still, the prognosis remains poor, so we need to know more about the genetic alterations in lung cancer. MicroRNAs are dysregulated in lung cancer, and some of them can regulate EGFR. So it is very important to predict the candidate microRNAs that target mutated EGFR and to investigate the role of these candidate microRNAs in lung cancer. In this study, we investigated the difference of microRNAs expression between lung adenocarcinoma cell lines with EGFR exon 19 deletion (H1650 and PC9) and wild-type (H1299 and A549) using the Phalanx Human Whole Genome Microarray...
2017: Journal of Cancer
https://www.readbyqxmd.com/read/28606269/-application-of-gene-capture-technology-on-mutation-screening-of-rb1-gene-in-retinoblastoma-patients
#9
Q Y Meng, L Z Huang, B Wang, X X Li, J H Liang
Objectives: To analyze RB1 gene mutation in retinoblastoma (RB) patients using gene capture technology. Methods: Experimental research. The clinical data of 17 RB patients were collected at Department of Ophthalmology, Peking University People's Hospital from June 2010 to Jun 2014. Peripheral blood samples of seventeen RB patients and their parents were collected and genomic DNA were extracted. DNA library from RB patients was mixed with designed gene capture probe of RB1 exons and its flanking sequences. The data were analyzed using bioinformatics software...
June 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/28605116/phaeochromocytoma-in-multiple-endocrine-neoplasia-type-2-ret-codon-specific-penetrance-and-changes-in-management-during-the-last-four-decades
#10
L Mucha, G Leidig-Bruckner, K Frank-Raue, Th Bruckner, M Kroiss, F Raue
OBJECTIVES: We describe phaeochromocytoma penetrance in multiple endocrine neoplasia type 2 (MEN2) according to RET protooncogene-specific mutations, and report changes in phaeochromocytoma diagnosis and management from 1968 to 2015. DESIGN: This retrospective chart review included 309 MEN2 patients from one specialised ambulatory care centre. Phaeochromocytoma patients were categorised by diagnosis date: early, 1968-1996, n = 40; and recent, 1997-2015, n = 45. RESULTS: Phaeochromocytoma was diagnosed in 85/309 patients with RET mutations in the following exons (phaeos/all carriers, %): exon 11 (56/120, 46·6%); exon 16 (7/17, 41·2%), exon 10 (14/47, 29·8%), and exon 13-15 (2/116, 1·7%)...
June 12, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28600491/development-and-evaluation-of-18-f-irs-for-molecular-imaging-mutant-egf-receptors-in-nsclc
#11
Yan Song, Zunyu Xiao, Kai Wang, Xiance Wang, Chongqing Zhang, Fang Fang, Xilin Sun, Baozhong Shen
To prepare and evaluate a new radiotracer (18)F-IRS for molecular imaging mutant EGF Receptors in vitro and vivo. Uptake and efflux of (18)F-IRS were performed with four NSCLC cell lines including HCC827, H1975, H358 and H520. In vivo tumor targeting and pharmacokinetics of the radiotracers were also evaluated in HCC827, H1975, H358 and H520 tumor-bearing nude mice by PET/CT imaging. Ex vivo biodistribution assays were performed to quantify the accumulation of (18)F-IRS in vivo. We also performed (18)F-IRS PET/CT imaging of three patients with NSCLC...
June 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28599456/dynamic-monitoring-of-egfr-mutations-in-circulating-cell-free-dna-for-egfr-mutant-metastatic-patients-with-lung-cancer-early-detection-of-drug-resistance-and-prognostic-significance
#12
Jianjiao Ni, Linqian Weng, Yi Liu, Zhao Sun, Chunmei Bai, Yingyi Wang
Detecting genetic mutations in circulating cell-free DNA (cfDNA) is a promising approach of liquid biopsy. Between June 2014 and May 2015, 168 plasma samples were collected monthly from 20 patients with metastatic lung adenocarcinoma with epidermal growth factor receptor (EGFR) mutation receiving gefitinib therapy. Clinically relevant EGFR mutations, including exon 19 deletion, L858R and T790M, were quantified using droplet digital polymerase chain reaction. In baseline samples, 19 (95.0%) patients had the same mutation with the matched tumors, and pretreatment T790M mutations were also detected in 3 (15...
June 2017: Oncology Letters
https://www.readbyqxmd.com/read/28599445/comparison-of-the-effectiveness-of-erlotinib-gefitinib-and-afatinib-for-treatment-of-non-small-cell-lung-cancer-in-patients-with-common-and-rare-egfr-gene-mutations
#13
Pawel Krawczyk, Dariusz M Kowalski, Rodryg Ramlau, Ewa Kalinka-Warzocha, Kinga Winiarczyk, Katarzyna Stencel, Tomasz Powrózek, Katarzyna Reszka, Kamila Wojas-Krawczyk, Maciej Bryl, Magdalena Wójcik-Superczyńska, Maciej Głogowski, Aleksander Barinow-Wojewódzki, Janusz Milanowski, Maciej Krzakowski
Epidermal growth factor receptor-tyrosine kinase inhibitors (EGFR-TKIs) are routinely used to treat non-small cell lung cancer (NSCLC) in patients with common activating mutations of the EGFR gene. The aim of the study was to compare the efficacies of EGFR-TKIs in patients with common (exon 19 deletions and exon 21 p.Leu858Arg) and rare EGFR mutations. A retrospective analysis of 180 NSCLC patients with common (n=167) and rare (n=13) EGFR mutations treated with erlotinib (n=98), gefitinib (n=66) and afatinib (n=16) was performed...
June 2017: Oncology Letters
https://www.readbyqxmd.com/read/28598128/-molecular-features-of-sma-related-genes-in-spinal-muscular-atrophy-patients-of-han-nationality-in-southwest-china
#14
Min-Jin Wang, Jun Wang, Meng-Ge Bai, Wen-Jing Zhou, Li-Juan Wu, Si-Shi Tang, Xiao-Jun Lu, Bin-Wu Ying
OBJECTIVES: To investigate the molecular features of spinal muscular atrophy (SMA) related genes in SMA patients of Han nationality of southwest of China. METHODS: We collected 62 unrelated patients of SMA and 50 unrelated healthy individuals in this study.The copy numbers of survival motor neuron gene (SMN) and uronal-apoptosis inhibitory protein gene (NAIP) were measured by using multiplex ligation-dependent probe amplification (MLPA). RESULTS: Of 62 patients,the copy number of SMA1-4 were 30...
November 2016: Sichuan da Xue Xue Bao. Yi Xue Ban, Journal of Sichuan University. Medical Science Edition
https://www.readbyqxmd.com/read/28595730/recurrent-large-genomic-rearrangements-in-brca1-and-brca2-in-an-irish-case-series
#15
Terri P McVeigh, Nuala Cody, Cliona Carroll, Marie Duff, Michael Farrell, Lisa Bradley, David Gallagher, Trudi McDevitt, Andrew J Green
Mutations in BRCA1 and BRCA2 confer a highly increased risk of cancers, mainly of the breast and ovary. Most variants are point mutations or small insertions/deletions detectable by Sanger sequencing. Large genomic rearrangements, including deletions/duplications of multiple exons, are not routinely detectable by Sanger sequencing, but can be reliably identified by Multiplex Ligation-dependent Probe Amplification (MLPA), and account for 5-17% mutations in different populations. Comprehensive mutation testing using these two methods has been facilitated via our centre since 2005...
August 2017: Cancer Genetics
https://www.readbyqxmd.com/read/28592066/-analysis-of-haematological-phenotype-and-mutation-spectrum-of-%C3%AE-globin-gene-from-guangdong-area-in-chinese-han-prenatal-population
#16
L Y Zhong, Y J Xie, P S Chen, Y W Feng, M Liu, B Huang, X H He, X Gan
Objective: To analyze the genotype-phenotype correlations among southern Chinese Han prenatal population in Guangdong area with δ-globin gene mutation, so as to enrich the delta-thalassemia gene mutations data. Methods: A total of 33 cases were selected in 7 580 patients during prenatal thalassemia trait screening, from January 2012 to May 2015(including 10 males and 23 females, aged 22-48 years old). Complete blood cell count was performed on a XE 4000i automatic hemocyte analyzer. Hb, HbF and HbA2 were tested by high performance liquid chromatography (HPLC)...
May 30, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28589341/highly-sensitive-and-reliable-detection-of-egfr-exon-19-deletions-by-droplet-digital-polymerase-chain-reaction
#17
Natalya Oskina, Igor Oscorbin, Evgeniy Khrapov, Ulyana Boyarskikh, Dmitriy Subbotin, Irina Demidova, Evgeny Imyanitov, Maxim Filipenko
BACKGROUND: Analysis of EGFR mutations is becoming a routine clinical practice but the optimal EGFR mutation testing method is still to be determined. METHODS: We determined the nucleotide sequence of deletions located in exon 19 of the EGFR gene in lung tumor samples of patients residing in different regions of Russia (153 tumor DNA specimens), using Sanger sequencing. We developed a droplet digital polymerase chain reaction assay capable of detecting all common EGFR deletions in exon 19...
June 6, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28588734/plasma-t790m-and-hgf-as-potential-predictive-markers-for-egfr-tki-re-challenge
#18
Tomomi Nakamura, Naomi Watanabe, Akemi Sato, Kazutoshi Komiya, Hitomi Umeguchi, Toshiya Hosomi, Mitsuharu Hirai, Eisaburo Sueoka, Shinya Kimura, Naoko Sueoka-Aragane
Re-challenge with epidermal growth factor receptor tyrosine kinase inhibitors (EGFR-TKI) has been suggested to potentially improve survival in certain populations of patients with advanced lung cancer, but predictive markers for the success of EGFR-TKI re-challenge have not been identified. The present study analyzed 16 re-challenges with EGFR-TKI undertaken in 12 patients with lung adenocarcinoma by investigating T790M and hepatocyte growth factor (HGF) in plasma coupled with clinical characteristics. EGFR mutations in plasma DNA were detected using the wild inhibiting PCR and quenched probe system for exon 19 deletions, and T790M and L858R were detected using the mutation-biased PCR and quenched probe system...
June 2017: Oncology Letters
https://www.readbyqxmd.com/read/28586760/clinical-mutational-profiling-of-1006-lung-cancers-by-next-generation-sequencing
#19
Peter B Illei, Deborah Belchis, Li-Hui Tseng, Doreen Nguyen, Federico De Marchi, Lisa Haley, Stacy Riel, Katie Beierl, Gang Zheng, Julie R Brahmer, Frederic B Askin, Christopher D Gocke, James R Eshleman, Patrick M Forde, Ming-Tseh Lin
Analysis of lung adenocarcinomas for actionable mutations has become standard of care. Here, we report our experience using next generation sequencing (NGS) to examine AKT1, BRAF, EGFR, ERBB2, KRAS, NRAS, and PIK3CA genes in 1006 non-small cell lung cancers in a clinical diagnostic setting. NGS demonstrated high sensitivity. Among 760 mutations detected, the variant allele frequency (VAF) was 2-5% in 33 (4.3%) mutations and 2-10% in 101 (13%) mutations. A single bioinformatics pipeline using Torrent Variant Caller, however, missed a variety of EGFR mutations...
May 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/28577949/clinical-and-pathological-characteristics-of-egfr-mutation-in-operable-early-stage-lung-adenocarcinoma
#20
Masaya Yotsukura, Hiroyuki Yasuda, Takao Shigenobu, Kaoru Kaseda, Kyohei Masai, Yuichiro Hayashi, Tomoyuki Hishida, Takashi Ohtsuka, Katsuhiko Naoki, Kenzo Soejima, Tomoko Betsuyaku, Hisao Asamura
OBJECTIVES: Over the past decade, the biological and clinical characteristics of lung cancer with epidermal growth factor receptor (EGFR) mutation have been well studied. However, most studies have focused on advanced inoperable cancer, and not on resected early-stage lung adenocarcinoma. We aimed to elucidate the differences in the clinicopathological characteristics and postoperative prognosis according to the EGFR mutation status in early-stage lung adenocarcinoma. MATERIALS AND METHODS: We retrospectively collected clinical and pathological data from 369 patients with pathological stage I or II lung adenocarcinoma who underwent complete resection...
July 2017: Lung Cancer: Journal of the International Association for the Study of Lung Cancer
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