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https://www.readbyqxmd.com/read/28733559/dynamics-of-egfr-mutations-in-plasma-recapitulates-the-clinical-response-to-egfr-tkis-in-nsclc-patients
#1
Liwen Xiong, Shaohua Cui, Jingyan Ding, Yun Sun, Longfu Zhang, Yizhuo Zhao, Aiqin Gu, Tianqing Chu, Huimin Wang, Hua Zhong, Xin Ye, Yi Gu, Xin Zhang, Min Hu, Liyan Jiang
OBJECTIVES: Genomic profiling using plasma cell-free DNA (cfDNA) represents a non-invasive alternative to tumor re-biopsy, which is challenging in clinical practice. The feasibility of dynamically monitoring epidermal growth factor receptor (EGFR) mutation status using serial plasma samples from non-small cell lung cancer (NSCLC) patients treated by tyrosine kinase inhibitors (TKIs) and its application in tracking clinical response and detection of resistance were investigated. PATIENTS AND METHODS: Forty-five NSCLC patients with EGFR mutation-positive pre-TKI plasma and at least two post-TKI plasma collections were recruited to this study...
July 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/28730709/the-role-of-the-cytopathologist-in-subtyping-and-epidermal-growth-factor-receptor-testing-in-non-small-cell-lung-cancer-an-institutional-experience
#2
A Sekar, N Gupta, A Rajwanshi, R Chaturvedi, N Singh, A Lal
OBJECTIVE: Approximately 10% of non-small-cell lung cancer (NSCLC) remains unclassifiable as NSCLC-not otherwise specified (NOS), after using a panel of immunomarkers. The present study was undertaken to assess sensitivity and specificity of immunomarkers in sub-typing NSCLC on fine needle aspiration cytology (FNAC). Epidermal growth factor receptor (EGFR) mutations were also detected in these samples. METHODS: Sixty cases of NSCLC including 15 squamous cell carcinoma (SCC), 15 adenocarcinomas (ADC) and 30 NSCLC-NOS reported on FNAC were included in the study...
July 21, 2017: Cytopathology: Official Journal of the British Society for Clinical Cytology
https://www.readbyqxmd.com/read/28727946/confounding-by-single-nucleotide-polymorphism-rs117648444-p70s-affects-the-association-of-interferon-lambda-locus-variants-with-response-to-interferon-%C3%AE-ribavirin-therapy-in-patients-with-chronic-genotype-3-hepatitis-c-virus-infection
#3
Anand Bhushan, Sumona Ghosh, Samsiddhi Bhattacharjee, Sreedhar Chinnaswamy
Genome-wide association studies discovered interferon lambda (IFNL or IFN-λ) locus on chromosome 19 to be involved in clearance of chronic hepatitis C virus (HCV) infection in patients following interferon-α-ribavirin (IFN-RBV) therapy. Subsequent studies established a dinucleotide polymorphism rs368234815, as the prime causal variant behind this association. The ΔG allele of this variant gives rise to a new IFNL gene, IFNL4, coding for IFN-λ4 whose activity paradoxically associates with lesser viral clearance rates...
July 20, 2017: Journal of Interferon & Cytokine Research
https://www.readbyqxmd.com/read/28721096/comparison-of-gefitinib-as-first-and-second-line-therapy-for-advanced-lung-adenocarcinoma-patients-with-positive-exon-21-or-19-del-epidermal-growth-factor-receptor-mutation
#4
Nishant Patel, Pingping Wu, Haijun Zhang
OBJECTIVES: Gefitinib, a tyrosine kinase inhibitor (TKI) targeting epidermal growth factor receptor (EGFR), shows excellent clinical benefit in treating advanced non-small-cell lung cancer (NSCLC). The aim of this study was to compare the efficacy and toxicity of gefitinib as first-line therapy and second-line therapy for advanced lung adenocarcinoma patients with positive exon 21 (L858R) or exon 19 deletion of EGFR mutation. METHODS: We retrospectively analyzed the clinical data of 60 EGFR-mutated advanced lung adenocarcinoma patients from July 2011 to November 2015 who have received oral gefitinib 250 mg once daily...
2017: Cancer Management and Research
https://www.readbyqxmd.com/read/28720677/synthetic-circulating-cell-free-dna-as-quality-control-materials-for-somatic-mutation-detection-in-liquid-biopsy-for-cancer
#5
Rui Zhang, Rongxue Peng, Ziyang Li, Peng Gao, Shiyu Jia, Xin Yang, Jiansheng Ding, Yanxi Han, Jiehong Xie, Jinming Li
BACKGROUND: Detection of somatic genomic alterations in tumor-derived cell-free DNA (cfDNA) in the plasma is challenging owing to the low concentrations of cfDNA, variable detection methods, and complex workflows. Moreover, no proper quality control materials are available currently. METHODS: We developed a set of synthetic cfDNA quality control materials (SCQCMs) containing spike-in cfDNA on the basis of micrococcal nuclease digestion carrying somatic mutations as simulated cfDNA and matched genomic DNA as genetic background to emulate paired tumor-normal samples in real clinical tests...
July 18, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28714370/phosphatase-and-tensin-homolog-deleted-on-chromosome-10-degradation-induced-by-nedd4-promotes-acquired-erlotinib-resistance-in-non-small-cell-lung-cancer
#6
Huake Sun, Huiwen Ma, Jianmin Wang, Liqin Xia, Guangkuo Zhu, Zhoufei Wang, Jianguo Sun, Zhengtang Chen
Acquired resistance to epidermal growth factor receptor-tyrosine kinase inhibitors, such as gefitinib and erlotinib, is a critical issue in the treatment of patients with epidermal growth factor receptor mutant-positive non-small-cell lung cancer. Recent evidence suggests that downregulation of gene of phosphatase and tensin homolog deleted on chromosome 10 plays an important role in acquired resistance to epidermal growth factor receptor-tyrosine kinase inhibitors in various types of cancers, including lung cancer...
July 2017: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
https://www.readbyqxmd.com/read/28693444/the-value-of-ultrasound-guided-biopsy-of-fluorodeoxy-glucose-positron-emission-tomography-fdg-pet-positive-supraclavicular-lymph-nodes-in-patients-with-suspected-lung-cancer
#7
Lennart Werner, Franziska Aebersold Keller, Ujwal Bhure, Justus Egidius Roos, Katharina Tornquist, Maria Del Sol Pèrez-Lago, Oliver Gautschi, Klaus Strobel
BACKGROUND: Accurate lymph node staging is essential for adequate prognostication and therapy planning in patients with non-small cell lung cancer (NSCLC). FDG-PET/CT is a sensitive tool for the detection of metastases, including non-palpable supraclavicular lymph node (SCLN) metastases. Histological proof of metastatic spread and mutation analysis is crucial for optimal staging and therapy. The aim of this study was to investigate the value of ultrasound-guided fine needle aspiration cytology (FNAC) and core biopsy (CB) of FDG active, non-palpable SCLN's in patients with suspicion for lung cancer...
July 11, 2017: BMC Medical Imaging
https://www.readbyqxmd.com/read/28693210/resistance-to-epithelial-growth-factor-receptor-tyrosine-kinase-inhibitors-in-a-patient-with-transformation-from-lung-adenocarcinoma-to-small-cell-lung-cancer-a-case-report
#8
Liying Fang, Jian He, Jingwen Xia, Liang Dong, Xiujuan Zhang, Yaqin Chai, Ying Li, Mengjie Niu, Tianxing Hang, Shengqing Li
First-generation epithelial growth factor receptor tyrosine kinase inhibitors (EGFR-TKIs) have markedly improved the treatment of non-small cell lung cancer (non-SCLC) with EGFR-sensitive mutations. However, acquired resistance to these drugs was inevitable. The transformation of lung adenocarcinoma to SCLC following treatment with EGFR-TKIs is a rare phenomenon that contributes to resistance to EGFR-TKIs. The present case concerns a 74-year-old man previously diagnosed with and treated for pneumonia; however, this was later pathologically confirmed as lung adenocarcinoma by transbronchial lung biopsy...
July 2017: Oncology Letters
https://www.readbyqxmd.com/read/28690651/mutations-of-the-epidermal-growth-factor-receptor-gene-in-triple-negative-breast-cancer
#9
Aeri Kim, Min Hye Jang, Soo Jung Lee, Young Kyung Bae
PURPOSE: Epidermal growth factor receptor (EGFR) is considered a potential therapeutic target for anti-EGFR therapy in triple-negative breast cancer (TNBC). However, the frequency of EGFR gene mutation in TNBC is low and varies with ethnicity. This study aimed to investigate the incidence of EGFR gene mutation in TNBC. METHODS: EGFR protein expression was evaluated by immunohistochemistry in tissue microarrays of 493 TNBC cases using four different primary antibodies, which included mutation-specific antibodies...
June 2017: Journal of Breast Cancer
https://www.readbyqxmd.com/read/28688563/a-novel-mutation-in-the-myo7a-gene-is-associated-with-usher-syndrome-type-1-in-a-chinese-family
#10
Xiaoguang He, Qi Peng, Siping Li, Pengyuan Zhu, Chunqiu Wu, Chunbao Rao, Jingqi Lin, Xiaomei Lu
OBJECTIVES: We aimed to investigate the genetic causes of hearing loss in a Chinese proband with autosomal recessive congenital deafness. METHODS: The targeted capture of 159 known deafness genes and next-generation sequencing were performed to study the genetic causes of hearing loss in the Chinese family. Sanger sequencing was employed to verify the variant mutations in members of this family. RESULTS: The proband harbored two mutations in the MYO7A gene in the form of compound heterozygosity...
August 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28684733/detection-of-egfr-mutation-in-plasma-using-multiplex-allele-specific-pcr-mas-pcr-and-surface-enhanced-raman-spectroscopy
#11
Xiaozhou Li, Tianyue Yang, Caesar Siqi Li, Deli Wang, Youtao Song, Lili Jin
In this study, surface enhanced Raman spectroscopy (SERS) in combination with multiplexed polymerase chain reaction (PCR) was utilized to detect mutations of exons 19 and 21 of the epidermal growth factor receptor (EGFR) gene. Through the use of multiplexed PCR, the two mutation types were amplified in a single reaction. SERS was used on the PCR products to detect mutations. DNA mixtures with increasing mutation percentages showed good linear relationship between mutation rates and peak height. Then, this PCR-SERS method was used on the plasma of 48 patients with non-small cell lung cancer (NSCLC) to detect EGFR mutations...
July 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28676220/comparing-the-effects-of-afatinib-with-gefitinib-or-erlotinib-in-patients-with-advanced-stage-lung-adenocarcinoma-harboring-non-classical-epidermal-growth-factor-receptor-mutations
#12
Yi-Cheng Shen, Guan-Chin Tseng, Chih-Yeh Tu, Wei-Chun Chen, Wei-Chih Liao, Wei-Cheng Chen, Chia-Hsiang Li, Hung-Jen Chen, Te-Chun Hsia
OBJECTIVE: Approximately 10%-15% patients with epidermal growth factor receptor (EGFR) mutations harbor non-classical mutations. However, the effects of EGFR-tyrosine kinases (TKIs), particularly second-generation EGFR-TKI (afatinib) compared to first-generation EGFR-TKIs (gefitinib/erlotinib), in patients with non-classical EGFR mutations remain unknown. METHODS: We conducted this retrospective study at the China Medical University Hospital (Taichung, Taiwan) from June 2011 to July 2016...
August 2017: Lung Cancer: Journal of the International Association for the Study of Lung Cancer
https://www.readbyqxmd.com/read/28669059/reemergence-of-translocation-t-11-19-q23-p13-1-in-the-absence-of-clinically-overt-leukemia
#13
Suguru Uemura, Akihiro Tamura, Atsuro Saito, Daiichiro Hasegawa, Nanako Nino, Takehito Yokoi, Teppei Tahara, Aiko Kozaki, Kenji Kishimoto, Toshiaki Ishida, Keiichiro Kawasaki, Takeshi Mori, Noriyuki Nishimura, Minenori Ishimae, Mariko Eguchi, Yoshiyuki Kosaka
We report the case of a 10-year-old female with acute myeloid leukemia (AML) FAB M0 carrying a novel t(11;19)(q23;p13.1) MLL-ELL variant, in which intron 8 of MLL is fused to exon 6 of ELL. Complete remission, judged by morphology and cytogenetic analysis, was achieved after the conventional chemotherapy. Eight months after completion of therapy, the level of WT-1 in peripheral blood and the number of cells with the MLL-ELL fusion transcript resurged. However, the patient remained overtly healthy and the morphology in the bone-marrow smear was innocuous, with no sign of relapse or secondary leukemia...
July 1, 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/28664506/prevalence-and-spectrum-of-germline-rare-variants-in-brca1-2-and-palb2-among-breast-cancer-cases-in-sarawak-malaysia
#14
Xiaohong R Yang, Beena C R Devi, Hyuna Sung, Jennifer Guida, Eliseos J Mucaki, Yanzi Xiao, Ana Best, Lisa Garland, Yi Xie, Nan Hu, Maria Rodriguez-Herrera, Chaoyu Wang, Kristine Jones, Wen Luo, Belynda Hicks, Tieng Swee Tang, Karobi Moitra, Peter K Rogan, Michael Dean
PURPOSE: To characterize the spectrum of germline mutations in BRCA1, BRCA2, and PALB2 in population-based unselected breast cancer cases in an Asian population. METHODS: Germline DNA from 467 breast cancer patients in Sarawak General Hospital, Malaysia, where 93% of the breast cancer patients in Sarawak are treated, was sequenced for the entire coding region of BRCA1; BRCA2; PALB2; Exons 6, 7, and 8 of TP53; and Exons 7 and 8 of PTEN. Pathogenic variants included known pathogenic variants in ClinVar, loss of function variants, and variants that disrupt splice site...
June 29, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28654909/brain-metastases-in-patients-with-non-small-cell-lung-cancer-the-role-of-mutated-egfrs-with-an-exon-19-deletion-or-l858r-point-mutation-in-cancer-cell-dissemination
#15
Shih-Hsin Hsiao, Yu-Ting Chou, Sey-En Lin, Ru-Chun Hsu, Chi-Li Chung, Yu-Rung Kao, H Eugene Liu, Cheng-Wen Wu
Non-small cell lung cancer (NSCLC) patients tend to develop brain metastases (BM), but the link between BM occurrence and driver mutations in NSCLC is not very clear. We explored whether activating mutations of epidermal growth factor receptors (EGFRs) in exon 19 deletion or L858R predict BM in NSCLC. A retrospective multivariable logistic regression analysis of 384 patients demonstrated that the presence of mutated-EGFRs was associated with overall BM (OR=2.24, P=0.001) compared to that of wild-type EGFR (WT-EGFR)...
June 16, 2017: Oncotarget
https://www.readbyqxmd.com/read/28653406/an-exonic-missense-mutation-c-28g-a-is-associated-with-weak-b-blood-group-by-affecting-rna-splicing-of-the-abo-gene
#16
Xiaohong Cai, Chengrui Qian, Wenman Wu, Hang Lei, Qiulan Ding, Wei Zou, Dong Xiang, Xuefeng Wang
BACKGROUND: The amino acid substitutions caused by ABO gene mutations are usually predicted to impact glycosyltransferase's function or its biosynthesis. Here we report an ABO exonic missense mutation that affects B-antigen expression by decreasing the mRNA level of the ABO gene rather than the amino acid change. STUDY DESIGN AND METHODS: Serologic studies including plasma total GTB transfer capacity were performed. The exon sequences of the ABO gene were analyzed by Sanger sequencing...
June 26, 2017: Transfusion
https://www.readbyqxmd.com/read/28652772/epidermal-growth-factor-receptor-exon-20-mutation-in-lung-cancer-types-incidence-clinical-features-and-impact-on-treatment
#17
Vanita Noronha, Anuradha Choughule, Vijay M Patil, Amit Joshi, Rajiv Kumar, Deepa Susan Joy Philip, Shripad Banavali, Amit Dutt, Kumar Prabhash
BACKGROUND: There are limited data available on the treatment and outcome of epidermal growth factor receptor (EGFR) exon 20-mutated lung cancer patients. Hence, we planned an analysis of the demographic details, clinical profile and survival of lung cancer patients with exon 20 mutations. We compared our results to patients with EGFR tyrosine kinase inhibitor (TKI)-sensitizing activating and EGFR/anaplastic lymphoma kinase (ALK)-negative mutations. METHODS: This was a retrospective analysis of lung cancer patients who were treated at our center between January 2010 and August 2014...
2017: OncoTargets and Therapy
https://www.readbyqxmd.com/read/28650588/genetic-study-of-the-braf-gene-reveals-a-new-variants-and-high-frequency-of-the-v600e-mutation-among-iranian-ameloblastoma-patients
#18
Maryam Soltani, Mohammad Amin Tabatabaiefar, Zhaleh Mohsenifar, Mohammad Reza Pourreza, Abbas Moridnia, Laleh Shariati, Seyyed Mohammad Razavi
BACKGROUND: Ameloblastoma is a benign, slow-growing, locally invasive tumor. It is one of the most prevalent odontogenic tumors, with an incidence rate of 1% of all oral tumors and approximately 18% of odontogenic tumors. A group of genes has been investigated in patients with ameloblastoma. The BRAF V600E mutation has been implicated as the most common mutation in ameloblastoma. The presence or absence of this mutation has been associated with several clinopathological properties, including location, age at diagnosis, histology, and prognosis...
June 26, 2017: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/28645631/outcomes-of-first-generation-egfr-tkis-against-non-small-cell-lung-cancer-harboring-uncommon-egfr-mutations-a-post-hoc-analysis-of-the-be-positive-study
#19
Sara Pilotto, Antonio Rossi, Tiziana Vavalà, Alessandro Follador, Marcello Tiseo, Domenico Galetta, Alessandro Morabito, Massimo Di Maio, Olga Martelli, Orazio Caffo, Pier Luigi Piovano, Diego Cortinovis, Nicoletta Zilembo, Clelia Casartelli, Giuseppe Luigi Banna, Antonio Ardizzoia, Maria Luisa Barzelloni, Alessandra Bearz, Giovenzio Genestreti, Claudia Mucciarini, Virginio Filipazzi, Jessica Menis, Elisa Rizzo, Fausto Barbieri, Erika Rijavec, Fabiana Cecere, Gianluca Spitaleri, Emilio Bria, Silvia Novello
BACKGROUND: Beyond progression after tyrosine kinase inhibitor in EGFR-positive non-small-cell lung cancer patients (BE-POSITIVE) was the first Italian multicenter observational study that reported the outcomes of first-generation epidermal growth factor receptor (EGFR)-tyrosine kinase inhibitors (TKIs) in a "real-life" Caucasian EGFR-mutated non-small-cell lung cancer (NSCLC) population. The sharing of multi-institutional experiences represents a crucial strategy to enrich knowledge about uncommon EGFR mutations...
June 1, 2017: Clinical Lung Cancer
https://www.readbyqxmd.com/read/28641695/-relationship-between-egfr-mutations-and-pathological-classification-and-%C3%A2-specimen-of-lung-adenocarcinoma
#20
Lifei Kang, Jie Zheng, Xiang Zhu
BACKGROUND: With the development of genetic mutations and targeted drugs, accurate therapy of lung adenocarcinoma attracts much more attention, and more research is focued on epidermal growth factor receptor (EGFR). It is unclear whether the result of EGFR mutation and pathology type is consistent with different specimens. In our study, by comparing the relationship between EGFR mutations and pathological classification of lung adenocarcinoma in surgical resection of specimen and biopsy specimen, to discuss the relationship between EGFR mutations and pathological classification of and the influence of specimen type on EGFR gene detection...
June 20, 2017: Zhongguo Fei Ai za Zhi, Chinese Journal of Lung Cancer
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