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https://www.readbyqxmd.com/read/28916538/analysis-of-blood-based-gene-expression-in-idiopathic-parkinson-disease
#1
Ron Shamir, Christine Klein, David Amar, Eva-Juliane Vollstedt, Michael Bonin, Marija Usenovic, Yvette C Wong, Ales Maver, Sven Poths, Hershel Safer, Jean-Christophe Corvol, Suzanne Lesage, Ofer Lavi, Günther Deuschl, Gregor Kuhlenbaeumer, Heike Pawlack, Igor Ulitsky, Meike Kasten, Olaf Riess, Alexis Brice, Borut Peterlin, Dimitri Krainc
OBJECTIVE: To examine whether gene expression analysis of a large-scale Parkinson disease (PD) patient cohort produces a robust blood-based PD gene signature compared to previous studies that have used relatively small cohorts (≤220 samples). METHODS: Whole-blood gene expression profiles were collected from a total of 523 individuals. After preprocessing, the data contained 486 gene profiles (n = 205 PD, n = 233 controls, n = 48 other neurodegenerative diseases) that were partitioned into training, validation, and independent test cohorts to identify and validate a gene signature...
September 15, 2017: Neurology
https://www.readbyqxmd.com/read/28910337/mouse-repeated-electroconvulsive-seizure-ecs-does-not-reverse-social-stress-effects-but-does-induce-behavioral-and-hippocampal-changes-relevant-to-electroconvulsive-therapy-ect-side-effects-in-the-treatment-of-depression
#2
Erin M van Buel, Hannes Sigrist, Erich Seifritz, Lianne Fikse, Fokko J Bosker, Robert A Schoevers, Hans C Klein, Christopher R Pryce, Ulrich Lm Eisel
Electroconvulsive therapy (ECT) is an effective treatment for depression, but can have negative side effects including amnesia. The mechanisms of action underlying both the antidepressant and side effects of ECT are not well understood. An equivalent manipulation that is conducted in experimental animals is electroconvulsive seizure (ECS). Rodent studies have provided valuable insights into potential mechanisms underlying the antidepressant and side effects of ECT. However, relatively few studies have investigated the effects of ECS in animal models with a depression-relevant manipulation such as chronic stress...
2017: PloS One
https://www.readbyqxmd.com/read/28900965/basiswissen-zu-kindernotf%C3%A3-llen
#3
REVIEW
Christoph Klein
No abstract text is available yet for this article.
September 2017: MMW Fortschritte der Medizin
https://www.readbyqxmd.com/read/28892500/are-attitudes-toward-peace-and-war-the-two-sides-of-the-same-coin-evidence-to-the-contrary-from-a-french-validation-of-the-attitudes-toward-peace-and-war-scale
#4
Nicolas Van der Linden, Christophe Leys, Olivier Klein, Pierre Bouchat
Bizumic et al. (2013) have recently shown that attitudes towards peace and war reflect two distinct constructs rather than two poles of a single dimension. We present an attempt at validating the French version of their 16-item Attitudes toward Peace and War Scale (APWS) on five distinct (mainly Belgian) French-speaking samples (total N = 808). Confirmatory factor and criterion validity analyses confirmed that attitudes toward peace and war, although negatively related, are distinct in terms of their antecedents and consequences...
2017: PloS One
https://www.readbyqxmd.com/read/28881607/lack-of-association-between-the-pancreatitis-risk-allele-cel-hyb-and-pancreatic-cancer
#5
Koji Shindo, Jun Yu, Masaya Suenaga, Shahriar Fesharakizadeh, Koji Tamura, Jose Alejandro Navarro Almario, Aaron Brant, Michael Borges, Abdulrehman Siddiqui, Lisa Datta, Christopher L Wolfgang, Ralph H Hruban, Alison Patricia Klein, Michael Goggins
CEL-HYB is a hybrid allele that arose from a crossover between the 3' end of the Carboxyl ester lipase (CEL) gene and the nearby CEL pseudogene (CELP) and was recently identified as a risk factor for chronic pancreatitis. Since chronic pancreatitis is a risk factor for the development of pancreatic cancer, we compared the prevalence of the CEL-HYB allele in patients with pancreatic ductal adenocarcinoma to spousal controls and disease controls. The CEL-HYB allele was detected using Sanger and next generation sequencing...
August 1, 2017: Oncotarget
https://www.readbyqxmd.com/read/28877230/decision-impact-and-feasibility-of-different-asco-recommended-biomarkers-in-early-breast-cancer-prospective-comparison-of-molecular-marker-endopredict-and-protein-marker-upa-pai-1
#6
Johannes Ettl, Evelyn Klein, Alexander Hapfelmeier, Kirsten Grosse Lackmann, Stefan Paepke, Christoph Petry, Katja Specht, Laura Wolff, Heinz Höfler, Marion Kiechle
BACKGROUND: Adjuvant therapy decisions in early breast cancer are based on accurate risk assessment. Urokinase plasminogen activator (uPA) and plaminogen activator inhibitor-1 (PAI-1) have been the first biomarkers in hormone receptor (HR) positive breast cancer to reach highest level of evidence. The EndoPredict test (EPclin) combines gene expression information with nodal status and tumor size. The aim of this prospective study was to compare uPA/PAI-1 and EPclin as prognostic biomarkers with regard to feasibility, risk stratification and impact on adjuvant therapy recommendation...
2017: PloS One
https://www.readbyqxmd.com/read/28874546/combined-circulating-tumor-dna-and-protein-biomarker-based-liquid-biopsy-for-the-earlier-detection-of-pancreatic-cancers
#7
Joshua D Cohen, Ammar A Javed, Christopher Thoburn, Fay Wong, Jeanne Tie, Peter Gibbs, C Max Schmidt, Michele T Yip-Schneider, Peter J Allen, Mark Schattner, Randall E Brand, Aatur D Singhi, Gloria M Petersen, Seung-Mo Hong, Song Cheol Kim, Massimo Falconi, Claudio Doglioni, Matthew J Weiss, Nita Ahuja, Jin He, Martin A Makary, Anirban Maitra, Samir M Hanash, Marco Dal Molin, Yuxuan Wang, Lu Li, Janine Ptak, Lisa Dobbyn, Joy Schaefer, Natalie Silliman, Maria Popoli, Michael G Goggins, Ralph H Hruban, Christopher L Wolfgang, Alison P Klein, Cristian Tomasetti, Nickolas Papadopoulos, Kenneth W Kinzler, Bert Vogelstein, Anne Marie Lennon
The earlier diagnosis of cancer is one of the keys to reducing cancer deaths in the future. Here we describe our efforts to develop a noninvasive blood test for the detection of pancreatic ductal adenocarcinoma. We combined blood tests for KRAS gene mutations with carefully thresholded protein biomarkers to determine whether the combination of these markers was superior to any single marker. The cohort tested included 221 patients with resectable pancreatic ductal adenocarcinomas and 182 control patients without known cancer...
September 5, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28873125/neurological-complications-associated-with-anti-programmed-death-1-pd-1-antibodies
#8
Justin C Kao, Bing Liao, Svetomir N Markovic, Christopher J Klein, Elie Naddaf, Nathan P Staff, Teerin Liewluck, Julie E Hammack, Paola Sandroni, Heidi Finnes, Michelle L Mauermann
Importance: Neurological complications are an increasingly recognized consequence of the use of anti-programmed death 1 (PD-1) antibodies in the treatment of solid-organ tumors, with an estimated frequency of 4.2%. To date, the clinical spectrum and optimum treatment approach are not established. Objective: To investigate the frequency, clinical spectrum, and optimum treatment approach to neurological complications associated with anti-PD-1 therapy. Design, Setting, and Participants: This single-center, retrospective cohort study was conducted from either September or December 2014 (the approval dates of the study drugs by the US Food and Drug Administration) to May 19, 2016...
September 5, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28858496/characterization-of-the-fleeting-hydroxoiron-iii-complex-of-the-pentadentate-tmc-py-ligand
#9
Wei-Min Ching, Ang Zhou, Johannes E M N Klein, Ruixi Fan, Gerald Knizia, Christopher J Cramer, Yisong Guo, Lawrence Que
Nonheme mononuclear hydroxoiron(III) species are important intermediates in biological oxidations, but well-characterized examples of synthetic complexes are scarce due to their instability or tendency to form μ-oxodiiron(III) complexes, which are the thermodynamic sink for such chemistry. Herein, we report the successful stabilization and characterization of a mononuclear hydroxoiron(III) complex, [Fe(III)(OH)(TMC-py)](2+) (3; TMC-py = 1-(pyridyl-2'-methyl)-4,8,11-trimethyl-1,4,8,11-tetrazacyclotetradecane), which is directly generated from the reaction of [Fe(IV)(O)(TMC-py)](2+) (2) with 1,4-cyclohexadiene at -40 °C by H-atom abstraction...
August 31, 2017: Inorganic Chemistry
https://www.readbyqxmd.com/read/28852848/set-size-influences-the-relationship-between-ans-acuity-and-math-performance-a-result-of-different-strategies
#10
Julia Felicitas Dietrich, Hans-Christoph Nuerk, Elise Klein, Korbinian Moeller, Stefan Huber
Previous research has proposed that the approximate number system (ANS) constitutes a building block for later mathematical abilities. Therefore, numerous studies investigated the relationship between ANS acuity and mathematical performance, but results are inconsistent. Properties of the experimental design have been discussed as a potential explanation of these inconsistencies. In the present study, we investigated the influence of set size and presentation duration on the association between non-symbolic magnitude comparison and math performance...
August 29, 2017: Psychological Research
https://www.readbyqxmd.com/read/28844504/unsuspected-critical-illness-among-emergency-department-patients-presenting-for-acute-alcohol-intoxication
#11
Lauren R Klein, Jon B Cole, Brian E Driver, Christopher Battista, Ryan Jelinek, Marc L Martel
STUDY OBJECTIVE: Emergency department (ED) visits for acute alcohol intoxication are common, but this population is at risk for decompensation and occult critical illness. The purpose of this study is to describe the incidence and predictors of unsuspected critical illness among patients with acute alcohol intoxication. METHODS: This was a retrospective observational study of ED patients from 2011 to 2016 with acute alcohol intoxication. The study cohort included patients presenting for alcohol intoxication, whose initial assessment was uncomplicated alcohol intoxication without any other active acute medical or traumatic complaints...
August 23, 2017: Annals of Emergency Medicine
https://www.readbyqxmd.com/read/28844193/dual-antithrombotic-therapy-with-dabigatran-after-pci-in-atrial-fibrillation
#12
Christopher P Cannon, Deepak L Bhatt, Jonas Oldgren, Gregory Y H Lip, Stephen G Ellis, Takeshi Kimura, Michael Maeng, Bela Merkely, Uwe Zeymer, Savion Gropper, Matias Nordaby, Eva Kleine, Ruth Harper, Jenny Manassie, James L Januzzi, Jurrien M Ten Berg, P Gabriel Steg, Stefan H Hohnloser
Background Triple antithrombotic therapy with warfarin plus two antiplatelet agents is the standard of care after percutaneous coronary intervention (PCI) for patients with atrial fibrillation, but this therapy is associated with a high risk of bleeding. Methods In this multicenter trial, we randomly assigned 2725 patients with atrial fibrillation who had undergone PCI to triple therapy with warfarin plus a P2Y12 inhibitor (clopidogrel or ticagrelor) and aspirin (for 1 to 3 months) (triple-therapy group) or dual therapy with dabigatran (110 mg or 150 mg twice daily) plus a P2Y12 inhibitor (clopidogrel or ticagrelor) and no aspirin (110-mg and 150-mg dual-therapy groups)...
August 27, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28832619/correction-genome-wide-physical-activity-interactions-in-adiposity-a-meta-analysis-of-200-452-adults
#13
Mariaelisa Graff, Robert A Scott, Anne E Justice, Kristin L Young, Mary F Feitosa, Llilda Barata, Thomas W Winkler, Audrey Y Chu, Anubha Mahajan, David Hadley, Luting Xue, Tsegaselassie Workalemahu, Nancy L Heard-Costa, Marcel den Hoed, Tarunveer S Ahluwalia, Qibin Qi, Julius S Ngwa, Frida Renström, Lydia Quaye, John D Eicher, James E Hayes, Marilyn Cornelis, Zoltan Kutalik, Elise Lim, Jian'an Luan, Jennifer E Huffman, Weihua Zhang, Wei Zhao, Paula J Griffin, Toomas Haller, Shafqat Ahmad, Pedro M Marques-Vidal, Stephanie Bien, Loic Yengo, Alexander Teumer, Albert Vernon Smith, Meena Kumari, Marie Neergaard Harder, Johanne Marie Justesen, Marcus E Kleber, Mette Hollensted, Kurt Lohman, Natalia V Rivera, John B Whitfield, Jing Hua Zhao, Heather M Stringham, Leo-Pekka Lyytikäinen, Charlotte Huppertz, Gonneke Willemsen, Wouter J Peyrot, Ying Wu, Kati Kristiansson, Ayse Demirkan, Myriam Fornage, Maija Hassinen, Lawrence F Bielak, Gemma Cadby, Toshiko Tanaka, Reedik Mägi, Peter J van der Most, Anne U Jackson, Jennifer L Bragg-Gresham, Veronique Vitart, Jonathan Marten, Pau Navarro, Claire Bellis, Dorota Pasko, Åsa Johansson, Søren Snitker, Yu-Ching Cheng, Joel Eriksson, Unhee Lim, Mette Aadahl, Linda S Adair, Najaf Amin, Beverley Balkau, Juha Auvinen, John Beilby, Richard N Bergman, Sven Bergmann, Alain G Bertoni, John Blangero, Amélie Bonnefond, Lori L Bonnycastle, Judith B Borja, Søren Brage, Fabio Busonero, Steve Buyske, Harry Campbell, Peter S Chines, Francis S Collins, Tanguy Corre, George Davey Smith, Graciela E Delgado, Nicole Dueker, Marcus Dörr, Tapani Ebeling, Gudny Eiriksdottir, Tõnu Esko, Jessica D Faul, Mao Fu, Kristine Færch, Christian Gieger, Sven Gläser, Jian Gong, Penny Gordon-Larsen, Harald Grallert, Tanja B Grammer, Niels Grarup, Gerard van Grootheest, Kennet Harald, Nicholas D Hastie, Aki S Havulinna, Dena Hernandez, Lucia Hindorff, Lynne J Hocking, Oddgeir L Holmens, Christina Holzapfel, Jouke Jan Hottenga, Jie Huang, Tao Huang, Jennie Hui, Cornelia Huth, Nina Hutri-Kähönen, Alan L James, John-Olov Jansson, Min A Jhun, Markus Juonala, Leena Kinnunen, Heikki A Koistinen, Ivana Kolcic, Pirjo Komulainen, Johanna Kuusisto, Kirsti Kvaløy, Mika Kähönen, Timo A Lakka, Lenore J Launer, Benjamin Lehne, Cecilia M Lindgren, Mattias Lorentzon, Robert Luben, Michel Marre, Yuri Milaneschi, Keri L Monda, Grant W Montgomery, Marleen H M De Moor, Antonella Mulas, Martina Müller-Nurasyid, A W Musk, Reija Männikkö, Satu Männistö, Narisu Narisu, Matthias Nauck, Jennifer A Nettleton, Ilja M Nolte, Albertine J Oldehinkel, Matthias Olden, Ken K Ong, Sandosh Padmanabhan, Lavinia Paternoster, Jeremiah Perez, Markus Perola, Annette Peters, Ulrike Peters, Patricia A Peyser, Inga Prokopenko, Hannu Puolijoki, Olli T Raitakari, Tuomo Rankinen, Laura J Rasmussen-Torvik, Rajesh Rawal, Paul M Ridker, Lynda M Rose, Igor Rudan, Cinzia Sarti, Mark A Sarzynski, Kai Savonen, William R Scott, Serena Sanna, Alan R Shuldiner, Steve Sidney, Günther Silbernagel, Blair H Smith, Jennifer A Smith, Harold Snieder, Alena Stančáková, Barbara Sternfeld, Amy J Swift, Tuija Tammelin, Sian-Tsung Tan, Barbara Thorand, Dorothée Thuillier, Liesbeth Vandenput, Henrik Vestergaard, Jana V van Vliet-Ostaptchouk, Marie-Claude Vohl, Uwe Völker, Gérard Waeber, Mark Walker, Sarah Wild, Andrew Wong, Alan F Wright, M Carola Zillikens, Niha Zubair, Christopher A Haiman, Loic Lemarchand, Ulf Gyllensten, Claes Ohlsson, Albert Hofman, Fernando Rivadeneira, André G Uitterlinden, Louis Pérusse, James F Wilson, Caroline Hayward, Ozren Polasek, Francesco Cucca, Kristian Hveem, Catharina A Hartman, Anke Tönjes, Stefania Bandinelli, Lyle J Palmer, Sharon L R Kardia, Rainer Rauramaa, Thorkild I A Sørensen, Jaakko Tuomilehto, Veikko Salomaa, Brenda W J H Penninx, Eco J C de Geus, Dorret I Boomsma, Terho Lehtimäki, Massimo Mangino, Markku Laakso, Claude Bouchard, Nicholas G Martin, Diana Kuh, Yongmei Liu, Allan Linneberg, Winfried März, Konstantin Strauch, Mika Kivimäki, Tamara B Harris, Vilmundur Gudnason, Henry Völzke, Lu Qi, Marjo-Riitta Järvelin, John C Chambers, Jaspal S Kooner, Philippe Froguel, Charles Kooperberg, Peter Vollenweider, Göran Hallmans, Torben Hansen, Oluf Pedersen, Andres Metspalu, Nicholas J Wareham, Claudia Langenberg, David R Weir, David J Porteous, Eric Boerwinkle, Daniel I Chasman, Gonçalo R Abecasis, Inês Barroso, Mark I McCarthy, Timothy M Frayling, Jeffrey R O'Connell, Cornelia M van Duijn, Michael Boehnke, Iris M Heid, Karen L Mohlke, David P Strachan, Caroline S Fox, Ching-Ti Liu, Joel N Hirschhorn, Robert J Klein, Andrew D Johnson, Ingrid B Borecki, Paul W Franks, Kari E North, L Adrienne Cupples, Ruth J F Loos, Tuomas O Kilpeläinen
[This corrects the article DOI: 10.1371/journal.pgen.1006528.].
August 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28821742/rock-1-mediates-diabetes-induced-retinal-pigment-epithelial-and-endothelial-cell-blebbing-contribution-to-diabetic-retinopathy
#14
Pierre-Raphaël Rothschild, Sawsen Salah, Marianne Berdugo, Emmanuelle Gélizé, Kimberley Delaunay, Marie-Christine Naud, Christophe Klein, Alexandre Moulin, Michèle Savoldelli, Ciara Bergin, Jean-Claude Jeanny, Laurent Jonet, Yvan Arsenijevic, Francine Behar-Cohen, Patricia Crisanti
In diabetic retinopathy, the exact mechanisms leading to retinal capillary closure and to retinal barriers breakdown remain imperfectly understood. Rho-associated kinase (ROCK), an effector of the small GTPase Rho, involved in cytoskeleton dynamic regulation and cell polarity is activated by hyperglycemia. In one year-old Goto Kakizaki (GK) type 2 diabetic rats retina, ROCK-1 activation was assessed by its cellular distribution and by phosphorylation of its substrates, MYPT1 and MLC. In both GK rat and in human type 2 diabetic retinas, ROCK-1 is activated and associated with non-apoptotic membrane blebbing in retinal vessels and in retinal pigment epithelium (RPE) that respectively form the inner and the outer barriers...
August 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28807769/reduced-intensity-haploidentical-bone-marrow-transplantation-with-post-transplant-cyclophosphamide-for-solid-tumors-in-pediatric-and-young-adult-patients
#15
Nicolas J Llosa, Kenneth R Cooke, Allen Chen, Christopher Gamper, Orly Klein, Elias Zambidis, Brandon Luber, Gary Rosner, Nicholas Siegel, Mary Jo Holuba, Nancy Robey, Masanori Hayashi, Richard J Jones, Ephraim Fuchs, Matthias Holdhoff, David M Loeb, Heather J Symons
High-risk, recurrent, or refractory solid tumors in pediatric, adolescent, and young adult (AYA) patients have an extremely poor prognosis despite current intensive treatment regimens. We piloted an allogeneic bone marrow transplant platform using reduced-intensity conditioning (RIC) and partially HLA-mismatched (haploidentical) related donors for this population of pediatric and AYA solid tumor patients. Sixteen patients received fludarabine, cyclophosphamide, melphalan, and low-dose total body irradiation RIC haploidentical BMT (haploBMT) followed by post-transplantation cyclophosphamide (PTCy), mycophenolate mofetil, and sirolimus...
August 12, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28807328/corrigendum-to-neural-networks-underlying-language-and-social-cognition-during-self-other-processing-in-autism-spectrum-disorders-neuropsychologia-102-2017-116-123
#16
Rajesh K Kana, Emma B Sartin, Carl Stevens, Hrishikesh D Deshpande, Christopher Klein, Mark R Klinger, Laura Grofer Klinger
No abstract text is available yet for this article.
August 11, 2017: Neuropsychologia
https://www.readbyqxmd.com/read/28802563/metabolic-circuit-involving-free-fatty-acids-microrna-122-and-triglyceride-synthesis-in-liver-and-muscle-tissues
#17
Chofit Chai, Mila Rivkin, Liav Berkovits, Alina Simerzin, Elina Zorde-Khvalevsky, Nofar Rosenberg, Shiri Klein, Dayana Yaish, Ronen Durst, Shoshana Shpitzen, Shiran Udi, Joseph Tam, Joerg Heeren, Anna Worthmann, Christoph Schramm, Johannes Kluwe, Revital Ravid, Eran Hornstein, Hilla Giladi, Eithan Galun
BACKGROUND & AIMS: Effective treatments are needed for hepatic steatosis characterized by accumulation of triglycerides in hepatocytes, which leads to hepatocellular carcinoma. MicroRNA 122 (MIR122) is expressed only in the liver, where it regulates lipid metabolism. We investigated the mechanism by which free fatty acids (FFAs) regulate MIR122 expression and the effect of MIR122 on triglyceride synthesis. METHODS: We analyzed MIR122 promoter activity and validated its target mRNAs by transfection of luciferase reporter plasmids into Huh7, BNL-1ME, and HEK293 cultured cell lines...
August 9, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28780535/clinical-physiological-and-pathological-characterisation-of-the-sensory-predominant-peripheral-neuropathy-in-copper-deficiency
#18
Sean W Taylor, Ruple S Laughlin, Neeraj Kumar, Brent Goodman, Christopher J Klein, Peter J Dyck, P James B Dyck
INTRODUCTION: Myelopathy is considered the most common neurological complication of copper deficiency. Concurrent peripheral neuropathy has been recognised in association with copper deficiency but has not been well characterised. OBJECTIVES: To characterise the clinical, physiological and pathological features of copper-deficient peripheral neuropathy. METHODS: Patients with simultaneous copper deficiency (<0.78 μg/mL) and peripheral neuropathy seen at the Mayo Clinic from 1985 to 2005 were identified...
August 5, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28771478/patients-in-palliative-care-development-of-a-predictive-model-for-anxiety-using-routine-data
#19
Sonja Hofmann, Stephanie Hess, Carsten Klein, Gabriele Lindena, Lukas Radbruch, Christoph Ostgathe
INTRODUCTION: Anxiety is one of the most common psychological symptoms in patients in a palliative care situation. This study aims to develop a predictive model for anxiety using data from the standard documentation routine. METHODS: Data sets of palliative care patients collected by the German quality management benchmarking system called Hospice and Palliative Care Evaluation (HOPE) from 2007 to 2011 were randomly divided into a training set containing two-thirds of the data and a test set with the remaining one-third...
2017: PloS One
https://www.readbyqxmd.com/read/28767289/deleterious-germline-mutations-in-patients-with-apparently-sporadic-pancreatic-adenocarcinoma
#20
Koji Shindo, Jun Yu, Masaya Suenaga, Shahriar Fesharakizadeh, Christy Cho, Anne Macgregor-Das, Abdulrehman Siddiqui, P Dane Witmer, Koji Tamura, Tae Jun Song, Jose Alejandro Navarro Almario, Aaron Brant, Michael Borges, Madeline Ford, Thomas Barkley, Jin He, Matthew J Weiss, Christopher L Wolfgang, Nicholas J Roberts, Ralph H Hruban, Alison P Klein, Michael Goggins
Purpose Deleterious germline mutations contribute to pancreatic cancer susceptibility and are well documented in families in which multiple members have had pancreatic cancer. Methods To define the prevalence of these germline mutations in patients with apparently sporadic pancreatic cancer, we sequenced 32 genes, including known pancreatic cancer susceptibility genes, in DNA prepared from normal tissue obtained from 854 patients with pancreatic ductal adenocarcinoma, 288 patients with other pancreatic and periampullary neoplasms, and 51 patients with non-neoplastic diseases who underwent pancreatic resection at Johns Hopkins Hospital between 2000 and 2015...
August 2, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
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