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https://www.readbyqxmd.com/read/29778561/severe-xanthomatosis-in-heterozygous-familial-hypercholesterolemia
#1
Sumayah Aljenedil, Isabelle Ruel, Kevin Watters, Jacques Genest
BACKGROUND: Familial hypercholesterolemia is a genetic lipoprotein disorder characterized by elevated plasma low-density lipoprotein cholesterol level, (tendinous xanthomas, xanthelasmas, and premature arcus corneus) and early onset atherosclerotic cardiovascular disease. Familial hypercholesterolemia is caused by mutations in the low-density lipoprotein receptor, apolipoprotein B or proprotein convertase subtilisin/kexin type 9 genes. Rare mutations in low-density lipoprotein receptor adapter protein 1, APOE p...
April 3, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29777315/the-mdm2-rs937283-a-g-variant-significantly-increases-the-risk-of-lung-and-gastric-cancer-in-chinese-population
#2
Bifeng Chen, Jieling Wang, Yucan Chen, Xiuli Gu, Xianhong Feng
BACKGROUND: Currently, the MDM2 promoter rs937283 A > G variant that is able to alter MDM2 gene expression has been widely studied to explore the association of MDM2 with cancer risk. In this report, we investigate the association of MDM2 rs937283 A > G variant with risk of lung cancer (LC) and gastric cancer (GC) in a Chinese population of Hubei province, which was followed by a meta-analysis. METHODS: The genotyping of rs937283 was performed by polymerase chain reaction-restriction fragment length polymorphism and confirmed by sequencing...
May 18, 2018: International Journal of Clinical Oncology
https://www.readbyqxmd.com/read/29767749/association-of-brca2-k3326-with-small-cell-lung-cancer-and-squamous-cell-cancer-of-the-skin
#3
Thorunn Rafnar, Gudbjorg R Sigurjonsdottir, Simon N Stacey, Gisli Halldorsson, Patrick Sulem, Luba M Pardo, Hannes Helgason, Stefan T Sigurdsson, Thorkell Gudjonsson, Laufey Tryggvadottir, Gudridur H Olafsdottir, Jon G Jonasson, Kristin Alexiusdottir, Asgeir Sigurdsson, Julius Gudmundsson, Jona Saemundsdottir, Jon K Sigurdsson, Hrefna Johannsdottir, Andre Uitterlinden, Sita H Vermeulen, Tessel E Galesloot, Dawn C Allain, Martin Lacko, Bardur Sigurgeirsson, Kristin Thorisdottir, Oskar T Johannsson, Fridbjorn Sigurdsson, Gunnar B Ragnarsson, Helgi Isaksson, Hronn Hardardottir, Tomas Gudbjartsson, Daniel F Gudbjartsson, Gisli Masson, Lambertus A M L Kiemeney, Amanda Ewart Toland, Tamar Nijsten, Wilbert H M Peters, Jon H Olafsson, Steinn Jonsson, Unnur Thorsteinsdottir, Gudmar Thorleifsson, Kari Stefansson
Background: Most pathogenic mutations in the BRCA2 gene carry a high risk of hereditary breast and ovarian cancer (HBOC). However, a stop-gain mutation, K3326* (rs11571833), confers risk of lung cancer and cancers of the upper-aero-digestive tract but only a modest risk of breast or ovarian cancer. The Icelandic population provides an opportunity for comprehensive characterization of the cancer risk profiles of K3326* and HBOC mutations because a single mutation, BRCA2 999del5, is responsible for almost all BRCA2-related HBOC in the population...
May 14, 2018: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/29739297/functional-role-of-cyclind1-polymorphism-g870a-in-modifying-susceptibility-and-overall-survival-of-north-indian-lung-cancer-patients
#4
Ankita Pandey, Charu Bahl, Siddharth Sharma, Navneet Singh, Digamber Behera
Purpose The purpose of this study was to investigate the potential role of the cyclin D1 gene G870A polymorphism in the likelihood of the development of lung cancer and the overall survival of lung cancer patients in the North Indian population. Methods The study consisted of 353 lung cancer cases and 351 age- and gender-matched healthy controls. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLPP) was done for the CCND1 gene. The association analysis was done using the multiple linear regression, and the survival analysis was done using the Kaplan-Meier and the Cox regression models...
December 1, 2017: Tumori
https://www.readbyqxmd.com/read/29725441/forkhead-box-n1-inhibits-the-progression-of-non-small-cell-lung-cancer-and-serves-as-a-tumor-suppressor
#5
Xiaojian Ji, Yan Ji, Wenqing Wang, Xinmei Xu
Forkhead box N1 (FOXN1) belongs to the FOX family of transcription factors, which comprises a diverse group of winged-helix proteins. FOXN1 is a ubiquitously expressed member that has been implicated in the embryo development, metabolism, aging and cancer. However, little is known regarding the role of FOXN1 in non-small cell lung cancer (NSCLC). The aim of the study was to investigate the function of FOXN1 in NSCLC and examine the relevant mechanism. In the present study, using reverse transcription-quantitative polymerase chain reaction, western blotting, transwell assay, MTT assay, luciferase report assy, it was identified that knockdown of FOXN1 increased the proliferation of A549 and H1299 cells, while overexpression of FOXN1 evidently suppressed the cell growth...
May 2018: Oncology Letters
https://www.readbyqxmd.com/read/29724814/ahnak-loss-in-mice-promotes-type-ii-pneumocyte-hyperplasia-and-lung-tumor-development
#6
Jun Won Park, Il-Yong Kim, Ji Won Choi, Hee Jung Lim, Jae Hoon Shin, Yo Na Kim, Seo Hyun Lee, Yeri Son, Mira Sohn, Jong Kyu Woo, Joseph H Jeong, Cheolju Lee, Yun Soo Bae, Je Kyung Seong
AHNAK is known to be a tumor suppressor in breast cancer due to its ability to activate the TGFbeta signaling pathway. However, the role of AHNAK in lung tumor development and progression remains unknown. Here, the Ahnak gene was disrupted to determine its effect on lung tumorigenesis and the mechanism by which it triggers lung tumor development was investigated. First, AHNAK protein expression was determined to be decreased in human lung adenocarcinomas compared with matched non-neoplastic lung tissues. Then, Ahnak-/- mice were used to investigate the role of AHNAK in pulmonary tumorigenesis...
May 3, 2018: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/29723602/non-small-cell-lung-cancers-with-isocitrate-dehydrogenase-1-or-2-idh1-2-mutations
#7
Laura N Toth, Francine B de Abreu, Laura J Tafe
Isocitrate dehydrogenase 1 and 2 (IDH1/2) are important metabolic enzymes that convert isocitrate to α-ketoglutarate. IDH1/2 mutations are associated with the development of multiple malignancies. In this study, we examine the prevalence and features of non-small cell lung cancers (NSCLC) with IDH1/2 mutations. From May 2013 - March 2017, 800 lung cancer samples were successfully sequenced for somatic mutations on the Ion Torrent PGM with the 50 gene AmpliSeq Cancer Hotspot Panel v2 on the Ion Torrent PGM (318 chip)...
April 30, 2018: Human Pathology
https://www.readbyqxmd.com/read/29722794/dna-methylation-of-the-cancer-related-genes-f2rl3-and-ahrr-is-associated-with-occupational-exposure-to-polycyclic-aromatic-hydrocarbons
#8
Ayman Alhamdow, Christian Lindh, Jessika Hagberg, Pål Graff, Håkan Westberg, Annette M Krais, Maria Albin, Per Gustavsson, Håkan Tinnerberg, Karin Broberg
Some polycyclic aromatic hydrocarbons (PAH) are known carcinogens and workplace PAH exposure may increase the risk of cancer. Monitoring early cancer-related changes can indicate whether the exposure is carcinogenic. Here, we enrolled 151 chimney sweeps, 152 controls, and 19 creosote-exposed male workers from Sweden. We measured urinary PAH metabolites using LC/MS/MS, the cancer-related markers telomere length (TL) and mitochondrial DNA copy number (mtDNAcn) using qPCR, and DNA methylation of lung cancer-related genes F2RL3 and AHRR using pyrosequencing...
May 2, 2018: Carcinogenesis
https://www.readbyqxmd.com/read/29716923/interferon-gamma-messenger-rna-signature-in-tumor-biopsies-predicts-outcomes-in-patients-with-non-small-cell-lung-carcinoma-or-urothelial-cancer-treated-with-durvalumab
#9
Brandon W Higgs, Christopher Morehouse, Katie L Streicher, Philip Brohawn, Fernanda Pilataxi, Ashok Gupta, Koustubh Ranade
PURPOSE: To identify a predictive biomarker for durvalumab, an anti-programmed death ligand 1 (PD-L1) monoclonal antibody. EXPERIMENTAL DESIGN: RNA sequencing of 97 advanced-stage non-small-cell lung carcinoma (NSCLC) biopsies from a nonrandomized phase 1b/2 clinical trial (1108/NCT01693562) were profiled to identify a predictive signature; 62 locally advanced or metastatic urothelial cancer (UC) tumors from the same study were profiled to confirm predictive utility of the signature...
May 1, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29713646/mutational-profiling-of-non-small-cell-lung-cancer-resistant-to-osimertinib-using-next-generation-sequencing-in-chinese-patients
#10
Keke Nie, Haiping Jiang, Chunling Zhang, Chuanxin Geng, Xiajuan Xu, Ling Zhang, Hao Zhang, Zhongfa Zhang, Ketao Lan, Youxin Ji
Purpose: To identify the somatic mutated genes for optimal targets of non-small-cell lung cancer after resistance to osimertinib treatment. Patients and Methods: Study patients all had advanced lung adenocarcinoma and acquired resistance to osimertinib as a second- or third-line treatment. These patients had harboring EGFR T790M mutation before osimertinib treatment, which was confirmed by Amplification Refractory Mutation System (ARMS) PCR or Next-Generation Sequencing (NGS)...
2018: BioMed Research International
https://www.readbyqxmd.com/read/29682444/molecular-detection-of-emt-markers-in-circulating-tumor-cells-from-metastatic-non-small-cell-lung-cancer-patients-potential-role-in-clinical-practice
#11
Annalisa Milano, Francesca Mazzetta, Sabatino Valente, Danilo Ranieri, Laura Leone, Andrea Botticelli, Concetta Elisa Onesti, Salvatore Lauro, Salvatore Raffa, Maria Rosaria Torrisi, Paolo Marchetti
Background: Non-small cell lung cancer (NSCLC) is the most common cause of cancer-related mortality; nevertheless, there are few data regarding detection of circulating tumor cells (CTCs) in NSCLC, compared to other kinds of cancers in which their prognostic roles have already been defined. This difference is likely due to detection methods based on the epithelial marker expression which ignore CTCs undergoing epithelial-mesenchymal transition (CTCsEMT ). Methods: After optimization of the test with spiking experiments of A549 cells undergoing TGF- β 1-induced EMT (A549EMT ), the CTCsEMT were enriched by immunomagnetic depletion of leukocytes and then characterized by a RT-PCR assay based on the retrieval of epithelial and EMT-related genes...
2018: Analytical Cellular Pathology (Amsterdam)
https://www.readbyqxmd.com/read/29679033/innovatively-therapeutic-strategy-on-lung-cancer-by-daily-drinking-antioxidative-plasmon-induced-activated-water
#12
Chien-Kai Wang, Hsiao-Chien Chen, Sheng-Uei Fang, Chia-Wen Ho, Cheng-Jeng Tai, Chih-Ping Yang, Yu-Chuan Liu
Many human diseases are inflammation-related, such as cancer and those associated with aging. Previous studies demonstrated that plasmon-induced activated (PIA) water with electron-doping character, created from hot electron transfer via decay of excited Au nanoparticles (NPs) under resonant illumination, owns reduced hydrogen-bonded networks and physchemically antioxidative properties. In this study, it is demonstrated PIA water dramatically induced a major antioxidative Nrf2 gene in human gingival fibroblasts which further confirms its cellular antioxidative and anti-inflammatory properties...
April 20, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29675106/overexpression-of-klotho-inhibits-helf-fibroblasts-sasp-related-protumoral-effects-on-non-small-cell-lung-cancer-cells
#13
Bo Chen, Yan Liang, Liben Chen, Yunyan Wei, Yue Li, Weihong Zhao, Jianqing Wu
Lung cancer (LC) is the most common cause of death from cancer worldwide, and it is also a closely aging-related disease. Klotho, a new anti-aging gene, has been proven to play a critical role in regulating aging and the development of age-related diseases including LC. However, whether Klotho is a key link between aging and LC is still unknown. Here we report that Klotho can indirectly inhibit LC growth and development through regulating senescence-associated secretory phenotype (SASP). We found that senescent lung fibroblasts (SLF) can promote production of IL-6 and IL-8, which can be effectively inhibited by overexpressing Klotho...
2018: Journal of Cancer
https://www.readbyqxmd.com/read/29616113/clinical-significance-of-high-expression-of-mir-452-5p-in-lung-squamous-cell-carcinoma
#14
Xiao-Ning Gan, Ting-Qing Gan, Rong-Quan He, Jie Luo, Rui-Xue Tang, Han-Lin Wang, Hong Zhou, Hui Qing, Jie Ma, Xiao-Hua Hu, Gang Chen
The role of microRNA (miRNA)-452-5p in lung squamous cell carcinoma (LUSC) remains unclear. Therefore, the present systematic study was performed to investigate the clinical significance and the rudimentary mechanism of the function of miR-452-5p in LUSC. The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO) databases were utilized to confirm the expression level and clinical value of miR-452-5p in LUSC. Using online databases and bioinformatic software, gene ontology (GO), pathway and protein-protein interaction (PPI) analyses of miR-452-5p target genes were performed to examine the molecular mechanism of miR-452-5p...
May 2018: Oncology Letters
https://www.readbyqxmd.com/read/29604112/cyp2e1-and-gstm1-gene-polymorphisms-environmental-factors-and-the-susceptibility-to-lung-cancer
#15
Qingfang He, Lixin Wang, Jie Zhang, Feng Lu, Weiwei Gong, Jin Pan, Jieming Zhong, Ruying Hu, Min Yu
OBJECTIVE: To investigate the relationships between the CYP2E1 RsaI polymorphism, GSTM1 polymorphism, and the susceptibility to lung cancer, along with the interactions between environmental factors and these genes. METHODS: A case-control study was carried out to explore the independent effect of gene polymorphisms on risk of lung cancer, and the combined effects of gene loci. The stratification analysis of age, sex, smoking, and drinking combined with positive loci was also analyzed, and any interaction was identified...
March 31, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29600239/clinical-outcome-study-of-crizotinib-in-immunohistochemistry-proven-echinoderm-microtubule-associated-protein-like-4-anaplastic-lymphoma-kinase-fusion-gene-among-indian-patients-with-adenocarcinoma-lung
#16
Ullas Batra, Mohit Aggarwal, Parveen Jain, Pankaj Goyal, Abhishek Yadav, Udip Maheshwari, Anurag Mehta
Aims: The anaplastic lymphoma kinase (ALK) Break Apart FISH Probe Kit and Ventana anti-ALK (D5F3) CDx immunohistochemistry (IHC) assay are the Food and Drug Administration-approved companion diagnostic for targeted therapy with the ALK inhibitor crizotinib in lung cancers. The aim of this study was to assess the efficacy and safety of twice daily crizotinib tablet (250 mg) in IHC-proven echinoderm microtubule-associated protein-like 4 (EML4)-ALK fusion gene among Indian patients with adenocarcinoma lung in the routine clinical practice...
January 2018: South Asian Journal of Cancer
https://www.readbyqxmd.com/read/29587656/erlotinib-treatment-after-platinum-based-therapy-in-elderly-patients-with-non-small-cell-lung-cancer-in-routine-clinical-practice-results-from-the-eldertac-study
#17
Wolfgang M Brueckl, H Jost Achenbach, Joachim H Ficker, Wolfgang Schuette
BACKGROUND: In this prospective non-interventional study, the effectiveness and tolerability of erlotinib in elderly patients with non-small-cell lung cancer (NSCLC) after ≥1 platinum-based chemotherapy were assessed. METHODS: A total of 385 patients ≥65 years of age with advanced NSCLC receiving erlotinib were observed over 12 months. The primary endpoint was the 1-year overall survival (OS) rate. RESULTS: Patients were predominantly Caucasian (99...
March 27, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29575851/molecular-screening-of-small-biopsy-samples-using-next-generation-sequencing-in-korean-patients-with-advanced-non-small-cell-lung-cancer-korean-lung-cancer-consortium-klcc-13-01
#18
Bo Mi Ku, Mi Hwa Heo, Joo-Hang Kim, Byoung Chul Cho, Eun Kyung Cho, Young Joo Min, Ki Hyeong Lee, Jong-Mu Sun, Se-Hoon Lee, Jin Seok Ahn, Keunchil Park, Tae Jung Kim, Ho Yun Lee, Hojoong Kim, Kyung-Jong Lee, Myung-Ju Ahn
Background: Non-small cell lung cancer (NSCLC) is a common type of cancer with typically poor prognosis. As individual cancers exhibit unique mutation patterns, identifying and characterizing gene mutations in NSCLC might help predict patient outcomes and guide treatment. The aim of this study was to evaluate the clinical adequacy of molecular testing using next-generation sequencing (NGS) for small biopsy samples and characterize the mutational landscape of Korean patients with advanced NSCLC...
March 26, 2018: Journal of Pathology and Translational Medicine
https://www.readbyqxmd.com/read/29574020/sirt1-and-micrornas-the-role-in-breast-lung-and-prostate-cancers
#19
REVIEW
Hedyieh Karbasforooshan, Ali Roohbakhsh, Gholamreza Karimi
Breast cancer and prostate cancer are the most common malignant tumors in female and men, respectively. Furthermore, lung cancer is the leading cause of cancer deaths worldwide. It is an emergency to develop a powerful strategy to treat these threatening cancers more effectively, because of low efficacy and high rates of chemotherapy effects. MicroRNAs (miRNAs), a class of small non-coding RNAs, are key regulators of gene expression via induction of translational repression or mRNA degradation. MiRNA deregulation has been linked to cancer initiation and progression...
March 21, 2018: Experimental Cell Research
https://www.readbyqxmd.com/read/29550074/phase-i-study-of-intrapleural-gene-mediated-cytotoxic-immunotherapy-in-patients-with-malignant-pleural-effusion
#20
Charu Aggarwal, Andrew R Haas, Susan Metzger, Laura K Aguilar, Estuardo Aguilar-Cordova, Andrea G Manzanera, Gregoria Gómez-Hernández, Sharyn I Katz, Evan W Alley, Tracey L Evans, Joshua M Bauml, Roger B Cohen, Corey J Langer, Steven M Albelda, Daniel H Sterman
Gene-mediated cytotoxic immunotherapy (GMCI) is an immune strategy implemented through local delivery of an adenovirus-based vector expressing the thymidine kinase gene (aglatimagene besadenovec, AdV-tk) followed by anti-herpetic prodrug valacyclovir. A phase I dose escalation trial of GMCI followed by chemotherapy was conducted in patients with malignant pleural effusion (MPE). AdV-tk was administered intrapleurally (IP) in three cohorts at a dose of 1 × 1012 to 1013 vector particles. Primary endpoint was safety; secondary endpoints included response rate, progression-free survival, and overall survival...
May 2, 2018: Molecular Therapy: the Journal of the American Society of Gene Therapy
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