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Mutation analysis biomarkers cancer

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https://www.readbyqxmd.com/read/27920066/new-concepts-for-an-old-problem-the-diagnosis-of-endometrial-hyperplasia
#1
REVIEW
Peter A Sanderson, Hilary O D Critchley, Alistair R W Williams, Mark J Arends, Philippa T K Saunders
BACKGROUND: Endometrial hyperplasia (EH) is a uterine pathology representing a spectrum of morphological endometrial alterations. It is predominantly characterized by an increase in the endometrial gland-to-stroma ratio when compared to normal proliferative endometrium. The clinical significance of EH lies in the associated risk of progression to endometrioid endometrial cancer (EC) and 'atypical' forms of EH are regarded as premalignant lesions. Traditional histopathological classification systems for EH exhibit wide and varying degrees of diagnostic reproducibility and, as a consequence, standardized patient management can be challenging...
December 4, 2016: Human Reproduction Update
https://www.readbyqxmd.com/read/27920018/a-phase-ii-randomized-placebo-controlled-trial-of-oral-n-acetylcysteine-for-protection-of-melanocytic-nevi-against-uv-induced-oxidative-stress-in-vivo
#2
Pamela B Cassidy, Tong Liu, Scott R Florell, Matthew Honeggar, Sancy A Leachman, Kenneth M Boucher, Douglas Grossman
Oxidative stress plays a role in UV-induced melanoma, which may arise from melanocytic nevi. We investigated whether oral administration of the antioxidant N-acetylcysteine (NAC) could protect nevi from oxidative stress in vivo in the setting of acute UV exposure. The minimal erythemal dose (MED) was determined for 100 patients at increased risk for melanoma. Patients were randomized to receive a single dose (1,200 mg) of NAC or placebo, in double-blind fashion, and then one nevus was irradiated (1-2 MED) using a solar simulator...
December 5, 2016: Cancer Prevention Research
https://www.readbyqxmd.com/read/27916938/comprehensive-analysis-of-mirnome-alterations-in-response-to-sorafenib-treatment-in-colorectal-cancer-cells
#3
Anna-Maria Pehserl, Anna Lena Ress, Stefanie Stanzer, Margit Resel, Michael Karbiener, Elke Stadelmeyer, Verena Stiegelbauer, Armin Gerger, Christian Mayr, Marcel Scheideler, Georg C Hutterer, Thomas Bauernhofer, Tobias Kiesslich, Martin Pichler
MicroRNAs (miRNAs) are master regulators of drug resistance and have been previously proposed as potential biomarkers for the prediction of therapeutic response in colorectal cancer (CRC). Sorafenib, a multi-kinase inhibitor which has been approved for the treatment of liver, renal and thyroid cancer, is currently being studied as a monotherapy in selected molecular subtypes or in combination with other drugs in metastatic CRC. In this study, we explored sorafenib-induced cellular effects in Kirsten rat sarcoma viral oncogene homolog olog (KRAS) wild-type and KRAS-mutated CRC cell lines (Caco-2 and HRT-18), and finally profiled expression changes of specific miRNAs within the miRNome (>1000 human miRNAs) after exposure to sorafenib...
December 1, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27911859/kras-exon-2-codon-13-mutation-is-associated-with-a-better-prognosis-than-codon-12-mutation-following-lung-metastasectomy-in-colorectal-cancer
#4
Stéphane Renaud, Francesco Guerrera, Joseph Seitlinger, Lorena Costardi, Mickaël Schaeffer, Benoit Romain, Claudio Mossetti, Anne Claire-Voegeli, Pier Luigi Filosso, Michèle Legrain, Enrico Ruffini, Pierre-Emmanuel Falcoz, Alberto Oliaro, Gilbert Massard
INTRODUCTION: The utilization of molecular markers as routinely used biomarkers is steadily increasing. We aimed to evaluate the potential different prognostic values of KRAS exon 2 codons 12 and 13 after lung metastasectomy in colorectal cancer (CRC). RESULTS: KRAS codon 12 mutations were observed in 116 patients (77%), whereas codon 13 mutations were observed in 34 patients (23%). KRAS codon 13 mutations were associated with both longer time to pulmonary recurrence (TTPR) (median TTPR: 78 months (95% CI: 50...
November 29, 2016: Oncotarget
https://www.readbyqxmd.com/read/27902470/phase-i-study-of-qlnc120-a-novel-egfr-and-her2-kinase-inhibitor-in-pre-treated-patients-with-her2-overexpressing-advanced-breast-cancer
#5
Tongtong Zhang, Qing Li, Shanshan Chen, Yang Luo, Ying Fan, Binghe Xu
This study evaluated the dose-limiting toxicities (DLT), maximum tolerated dose (MTD), pharmacokinetic profile, and preliminary antitumor activity of QLNC120, an inhibitor of epidermal growth factor receptor (EGFR) and human epidermal growth factor receptor 2 (HER2), in HER2 overexpressing advanced breast cancer patients. In addition, the prognostic biomarkers of QLNC120 were investigated. QLNC120 was administered as a single dose, followed by 7 days observation, and then once daily consecutively. Scheduled dose escalation was 450mg, 750mg, 1000mg and 1250mg...
November 25, 2016: Oncotarget
https://www.readbyqxmd.com/read/27901069/molecular-profiling-of-circulating-tumour-cells-identifies-notch1-as-a-principal-regulator-in-advanced-non-small-cell-lung-cancer
#6
Javier Mariscal, Marta Alonso-Nocelo, Laura Muinelo-Romay, Jorge Barbazan, Maria Vieito, Alicia Abalo, Antonio Gomez-Tato, Casares de Cal Maria de Los Angeles, Tomas Garcia-Caballero, Carmela Rodriguez, Elena Brozos, Francisco Baron, Rafael Lopez-Lopez, Miguel Abal
Knowledge on the molecular mechanisms underlying metastasis colonization in Non-Small Cell Lung Cancer (NSCLC) remains incomplete. A complete overview integrating driver mutations, primary tumour heterogeneity and overt metastasis lacks the dynamic contribution of disseminating metastatic cells due to the inaccessibility to the molecular profiling of Circulating Tumour Cells (CTCs). By combining immunoisolation and whole genome amplification, we performed a global gene expression analysis of EpCAM positive CTCs from advanced NSCLC patients...
November 30, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27900199/effects-of-exercise-on-markers-of-oxidative-stress-an-ancillary-analysis-of-the-alberta-physical-activity-and-breast-cancer-prevention-trial
#7
Christine M Friedenreich, Vincent Pialoux, Qinggang Wang, Eileen Shaw, Darren R Brenner, Xavier Waltz, Shannon M Conroy, Rhys Johnson, Christy G Woolcott, Marc J Poulin, Kerry S Courneya
BACKGROUND: Oxidative stress may contribute to cancer aetiology through several mechanisms involving damage to DNA, proteins and lipids leading to genetic mutations and genomic instability. The objective of this study was to determine the effects of aerobic exercise on markers of oxidative damage and antioxidant enzymes in postmenopausal women. METHODS: The Alberta Physical Activity and Breast Cancer Prevention Trial (ALPHA) was a two-centre, two-armed randomised trial of 320 inactive, healthy, postmenopausal women aged 50-74 years...
2016: BMJ Open Sport & Exercise Medicine
https://www.readbyqxmd.com/read/27898745/-internet-based-opportunities-in-breast-cancer-diagnostics-and-research
#8
Ádám Nagy, Balázs Gyõrffy
A new generation of internet-based diagnostic and research tools have arrived in the last decade. The most extensive group of these includes programs predicting the expected survival mainly by utilizing clinical data of the patient. This includes Adjuvant! Online, the MSKCC and MD Anderson nomograms and the UK-based PREDICT algorithm. A common feature of all these is the comparison of the given patient to previously treated breast cancer samples, and evaluating the clinical outcome of these previous patients...
November 29, 2016: Magyar Onkologia
https://www.readbyqxmd.com/read/27896617/comprehensive-dna-methylation-and-mutation-analyses-reveal-a-methylation-signature-in-colorectal-sessile-serrated-adenomas
#9
Árpád V Patai, Barbara Kinga Barták, Bálint Péterfia, Tamás Micsik, Réka Horváth, Csaba Sumánszki, Zoltán Péter, Árpád Patai, Gábor Valcz, Alexandra Kalmár, Kinga Tóth, Tibor Krenács, Zsolt Tulassay, Béla Molnár
Colorectal sessile serrated adenomas (SSA) are hypothesized to be precursor lesions of an alternative, serrated pathway of colorectal cancer, abundant in genes with aberrant promoter DNA hypermethylation. In our present pilot study, we explored DNA methylation profiles and examined selected gene mutations in SSA. Biopsy samples from patients undergoing screening colonoscopy were obtained during endoscopic examination. After DNA isolation and quality analysis, SSAs (n = 4) and healthy controls (n = 5) were chosen for further analysis...
November 29, 2016: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/27895815/molecular-predictive-markers-in-tumors-of-the-gastrointestinal-tract
#10
REVIEW
Eirini Papadopoulou, Vasiliki Metaxa-Mariatou, Georgios Tsaousis, Nikolaos Tsoulos, Angeliki Tsirigoti, Chrisoula Efstathiadou, Angela Apessos, Konstantinos Agiannitopoulos, Georgia Pepe, Eugenia Bourkoula, George Nasioulas
Gastrointestinal malignancies are among the leading causes of cancer-related deaths worldwide. Like all human malignancies they are characterized by accumulation of mutations which lead to inactivation of tumor suppressor genes or activation of oncogenes. Advances in Molecular Biology techniques have allowed for more accurate analysis of tumors' genetic profiling using new breakthrough technologies such as next generation sequencing (NGS), leading to the development of targeted therapeutical approaches based upon biomarker-selection...
November 15, 2016: World Journal of Gastrointestinal Oncology
https://www.readbyqxmd.com/read/27895661/the-genome-conformation-as-an-integrator-of-multi-omic-data-the-example-of-damage-spreading-in-cancer
#11
Fabio Tordini, Marco Aldinucci, Luciano Milanesi, Pietro Liò, Ivan Merelli
Publicly available multi-omic databases, in particular if associated with medical annotations, are rich resources with the potential to lead a rapid transition from high-throughput molecular biology experiments to better clinical outcomes for patients. In this work, we propose a model for multi-omic data integration (i.e., genetic variations, gene expression, genome conformation, and epigenetic patterns), which exploits a multi-layer network approach to analyse, visualize, and obtain insights from such biological information, in order to use achieved results at a macroscopic level...
2016: Frontiers in Genetics
https://www.readbyqxmd.com/read/27893656/is-it-feasible-to-detect-epidermal-growth-factor-receptor-mutations-in-circulating-tumor-cells-in-nonsmall-cell-lung-cancer-a-meta-analysis
#12
Yafang Liu, Ze Xing, Ping Zhan, Hongbing Liu, Wei Ye, Tangfeng Lv, Yong Song
BACKGROUND: The value of circulating tumor cells (CTCs) in detecting epidermal growth factor receptor (EGFR) mutations in patients with nonsmall cell lung cancer (NSCLC) is controversial. We performed a meta-analysis to investigate the diagnostic significance of CTCs with tumor tissues as the standard control. METHODS: A systematic literature search, including papers published until November 26, 2015, was performed using PubMed, Medline, Embase, Web of Science, and the China National Knowledge Infrastructure, and the references of retrieved articles were screened...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27882726/the-high-expression-instead-of-mutation-of-p53-is-predictive-of-overall-survival-in-patients-with-esophageal-squamous-cell-carcinoma-a-meta-analysis
#13
Ziran Zhao, Pan Wang, Yibo Gao, Jie He
Esophageal squamous-cell carcinoma (ESCC) is one of the deadliest cancers where biomarkers are needed for assist guiding management. We performed a meta-analysis to clarify the prognostic value of p53 high expression and TP53 mutations, which remain controversial for decades in patients with ESCC. We searched PubMed, Ovid MEDLINE, Embase, and Current Contents Connect to identify studies published between January 1990 and February 2016 of esophageal cancer populations that measured p53 expression and/or mutation status and reported hazard ratios (HRs), or adequate data for estimation of HRs for survival for p53-defined subgroups...
November 23, 2016: Cancer Medicine
https://www.readbyqxmd.com/read/27882657/using-a-semi-conductor-sequencing-based-panel-for-genotyping-of-hpv-positive-and-hpv-negative-oropharyngeal-cancer-a-retrospective-pilot-study
#14
Janneke C Ham, Bastiaan B J Tops, Chantal M L Driessen, Annemiek W M van Raaij, Piet J Slootweg, Willem J G Melchers, Marjolijn J L Ligtenberg, Carla M L van Herpen
OBJECTIVES: The aim of this study was to assess the feasibility of testing actionable mutations in small amounts of formalin fixed paraffin embed material in multiple genes of the receptor tyrosine kinase pathway and to determine the frequency of these mutations in human papillomavirus (HPV)-positive and HPV-negative oropharyngeal cancer (OPC). DESIGN: A retrospective pilot study was performed. SETTING: In OPC no predictive markers for response to epidermal growth factor receptor (EGFR) inhibition are known...
November 24, 2016: Clinical Otolaryngology
https://www.readbyqxmd.com/read/27875628/clinical-genomic-profiling-identifies-tyk2-mutation-and-overexpression-in-patients-with-neurofibromatosis-type-1-associated-malignant-peripheral-nerve-sheath-tumors
#15
Angela C Hirbe, Madhurima Kaushal, Mukesh Kumar Sharma, Sonika Dahiya, Melike Pekmezci, Arie Perry, David H Gutmann
BACKGROUND: Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive sarcomas that arise at an estimated frequency of 8% to 13% in individuals with neurofibromatosis type 1 (NF1). Compared with their sporadic counterparts, NF1-associated MPNSTs (NF1-MPNSTs) develop in young adults, frequently recur (approximately 50% of cases), and carry a dismal prognosis. As such, most individuals affected with NF1-MPNSTs die within 5 years of diagnosis, despite surgical resection combined with radiotherapy and chemotherapy...
November 22, 2016: Cancer
https://www.readbyqxmd.com/read/27867542/the-expression-of-sall4-is-significantly-associated-with-egfr-but-not-kras-or-eml4-alk-mutations-in-lung-cancer
#16
Xiangbo Jia, Rulin Qian, Binbin Zhang, Song Zhao
BACKGROUND: Lung cancer is the leading cause of cancer-related deaths worldwide; unfortunately, its prognosis is still very poor. Therefore, developing the target molecular is very important for lung cancer diagnosis and treatment, especially in the early stage. With this in view, spalt-like transcription factor 4 (SALL4) is considered a potential biomarker for diagnosis and prognosis in cancers, including lung cancer. METHODS: In order to better investigate the association between the expression of SALL4 and driver genes mutation, 450 histopathologically diagnosed patients with lung cancer and 11 non-cancer patients were enrolled to test the expression of SALL4 and the status of driver genes mutation...
October 2016: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/27865784/a-comparison-of-cell-free-dna-isolation-kits-isolation-and-quantification-of-cell-free-dna-in-plasma
#17
Laure Sorber, Karen Zwaenepoel, Vanessa Deschoolmeester, Geert Roeyen, Filip Lardon, Christian Rolfo, Patrick Pauwels
The analysis of cell-free DNA (cfDNA) as a sensitive biomarker for cancer diagnosis and monitoring has resulted in a need for efficient and standardized cfDNA isolation. In this study, we compared the isolation efficiency of the QIAamp circulating nucleic acid kit (QIA) with four other cfDNA isolation kits: the PME free-circulating DNA Extraction Kit (PME), the Maxwell RSC ccfDNA Plasma Kit (RSC), the EpiQuick Circulating Cell-Free DNA Isolation Kit (EQ), and two consecutive versions of the NEXTprep-Mag cfDNA Isolation Kit (NpMV1/2)...
November 17, 2016: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/27864574/enhancing-endocrine-therapy-combination-strategies-for-the-treatment-of-postmenopausal-hormone-receptor-positive-her2-advanced-breast-cancer
#18
REVIEW
Kathleen I Pritchard, Stephen K Chia, Christine Simmons, Deanna McLeod, Alexander Paterson, Louise Provencher, Daniel Rayson
: : Breast cancer (BC) is the most common malignancy in women worldwide, with approximately two-thirds having hormone receptor (HR)-positive tumors. New endocrine therapy (ET) strategies include combining ET agents as well as adding inhibitors targeting growth factors, angiogenesis, the mechanistic target of rapamycin, phosphoinositide 3-kinase (PI3K), or cyclin-dependent kinase 4/6 to ET. Level 1 evidence supports use of fulvestrant plus anastrozole or palbociclib plus letrozole as first-line therapy for HR-positive, HER2-negative advanced BC with special consideration for the former in ET-naïve patients, as well as everolimus plus exemestane or palbociclib plus fulvestrant as second-line therapy with special consideration in select first-line patients...
November 18, 2016: Oncologist
https://www.readbyqxmd.com/read/27864334/deubiquitinase-otud6b-isoforms-are-important-regulators-of-growth-and-proliferation
#19
Anna Sobol, Caroline Askonas, Sara Alani, Megan J Weber, Vijayalakshmi Ananthanarayanan, Clodia Osipo, Maurizio Bocchetta
: Deubiquitinases (DUBs) are increasingly linked to the regulation of fundamental processes in normal and cancer cells, including DNA replication and repair, programmed cell death, and oncogenes and tumor suppressors signaling. Here evidence is presented that the deubiquitinase OTUD6B regulates protein synthesis in non-small cell lung cancer (NSCLC) cells, operating downstream from mTORC1. OTUD6B associates with the protein synthesis initiation complex and modifies components of the 48S preinitiation complex...
November 18, 2016: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/27863403/enumeration-and-targeted-analysis-of-kras-braf-and-pik3ca-mutations-in-ctcs-captured-by-a-label-free-platform-comparison-to-ctdna-and-tissue-in-metastatic-colorectal-cancer
#20
Evelyn Kidess-Sigal, Haiyan E Liu, Melanie M Triboulet, James Che, Vishnu C Ramani, Brendan C Visser, George A Poultsides, Teri A Longacre, Andre Marziali, Valentina Vysotskaia, Matthew Wiggin, Kyra Heirich, Violet Hanft, Ulrich Keilholz, Ingeborg Tinhofer, Jeffrey A Norton, Mark Lee, Elodie Sollier-Christen, Stefanie S Jeffrey
Treatment of advanced colorectal cancer (CRC) requires multimodal therapeutic approaches and need for monitoring tumor plasticity. Liquid biopsy biomarkers, including CTCs and ctDNA, hold promise for evaluating treatment response in real-time and guiding therapeutic modifications. From 15 patients with advanced CRC undergoing liver metastasectomy with curative intent, we collected 41 blood samples at different time points before and after surgery for CTC isolation and quantification using label-free Vortex technology...
November 15, 2016: Oncotarget
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