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Sean Zheng

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https://www.readbyqxmd.com/read/28780577/drug-treatment-effects-on-outcomes-in-heart-failure-with-preserved-ejection-fraction-a-systematic-review-and-meta-analysis
#1
Sean Lee Zheng, Fiona T Chan, Adam A Nabeebaccus, Ajay M Shah, Theresa McDonagh, Darlington O Okonko, Salma Ayis
BACKGROUND: Clinical drug trials in patients with heart failure and preserved ejection fraction have failed to demonstrate improvements in mortality. METHODS: We systematically searched Medline, Embase and the Cochrane Central Register of Controlled Trials for randomised controlled trials (RCT) assessing pharmacological treatments in patients with heart failure with left ventricular (LV) ejection fraction≥40% from January 1996 to May 2016. The primary efficacy outcome was all-cause mortality...
August 5, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/28721352/detection-of-mcr-1-carrying-escherichia-coli-causing-bloodstream-infection-in-a-new-york-city-hospital-avian-origins-human-concerns
#2
Nenad Macesic, Daniel Green, Zheng Wang, Sean B Sullivan, Kevin Shim, Sarah Park, Susan Whittier, E Yoko Furuya, Angela Gomez-Simmonds, Anne-Catrin Uhlemann
The spread of mcr-1 in the United States remains poorly defined. mcr-1-producing Escherichia coli that also carried blaSHV-12 was detected in a hospitalized patient. No additional cases were identified during screening of 801 Gram-negative isolates. Genomic sequencing identified an IncX4 mcr-1- harboring plasmid and ST117 clonal background associated with avian pathogenic E coli.
2017: Open Forum Infectious Diseases
https://www.readbyqxmd.com/read/28690661/reliability-of-the-nicman-scale-an-instrument-to-assess-the-quality-of-acupuncture-administered-in-clinical-trials
#3
Caroline A Smith, Christopher J Zaslawski, Suzanne Cochrane, Xiaoshu Zhu, Zhen Zheng, Bertrand Loyeung, Peter C Meier, Sean Walsh, Charlie Changli Xue, Anthony L Zhang, Paul P Fahey, Alan Bensoussan
BACKGROUND: The aim of this study was to examine the reliability of a scale to assess the methodological quality of acupuncture administered in clinical research. METHODS: We invited 36 acupuncture researchers and postgraduate students to participate in the study. Firstly, participants rated two articles using the scale. Following this initial stage, modifications were made to scale items and the exercise was repeated. Interrater reliability was assessed for individual items using the Fleiss kappa statistic, whilst the overall scale used the intraclass correlation coefficient statistic...
2017: Evidence-based Complementary and Alternative Medicine: ECAM
https://www.readbyqxmd.com/read/28663138/the-ethanol-pathway-from-thermoanaerobacterium-saccharolyticum-improves-ethanol-production-in-clostridium-thermocellum
#4
Shuen Hon, Daniel G Olson, Evert K Holwerda, Anthony A Lanahan, Sean J L Murphy, Marybeth I Maloney, Tianyong Zheng, Beth Papanek, Adam M Guss, Lee R Lynd
Clostridium thermocellum ferments cellulose, is a promising candidate for ethanol production from cellulosic biomass, and has been the focus of studies aimed at improving ethanol yield. Thermoanaerobacterium saccharolyticum ferments hemicellulose, but not cellulose, and has been engineered to produce ethanol at high yield and titer. Recent research has led to the identification of four genes in T. saccharolyticum involved in ethanol production: adhE, nfnA, nfnB and adhA. We introduced these genes into C. thermocellum and observed significant improvements to ethanol yield, titer, and productivity...
July 2017: Metabolic Engineering
https://www.readbyqxmd.com/read/28641978/angptl4-t266m-variant-is-associated-with-reduced-cancer-invasiveness
#5
Zhen Wei Tan, Ziqiang Teo, Carol Tan, Chee Chong Choo, Wei Sheng Loo, Yiyang Song, Zhi Yang Tam, Sean Pin Ng, Hong Zheng Koh, Yi Siang Ng, Susana Geifman Shochat, Yin Hoe Yau, Pengcheng Zhu, Nguan Soon Tan
Angiopoietin-like 4 (ANGPTL4) is a secretory protein that can be cleaved to form an N-terminal and a C-terminal protein. Studies performed thus far have linked ANGPTL4 to several cancer-related and metabolic processes. Notably, several point mutations in the C-terminal ANGPTL4 (cANGPTL4) have been reported, although no studies have been performed that ascribed these mutations to cancer-related and metabolic processes. In this study, we compared the characteristics of tumors with and without wild-type (wt) cANGPTL4 and tumors with cANGPTL4 bearing the T266M mutation (T266M cANGPTL4)...
June 19, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28622947/discontinuation-and-non-publication-of-clinical-trials-in-cardiovascular-medicine
#6
Alistair J Roddick, Fiona T S Chan, James D Stefaniak, Sean L Zheng
BACKGROUND: Appropriate dissemination of clinical data is crucial for minimising bias. Despite this, high rates of study discontinuation and non-publication have been reported among clinical trials. Cardiovascular medicine receives a substantial proportion of academic funding; however, predictors of non-publication among cardiovascular trials are not well-established. METHODS: The National Clinical Trials database was searched for cardiovascular trials completed between January 2010 and January 2014...
June 7, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28535036/reversible-bond-cation-coupled-electron-transfer-on-phenylenediamine-based-rhodamine-b-and-its-application-on-electrochromism
#7
Xiaojun Wang, Shuo Wang, Chang Gu, Weiran Zhang, Hongzhi Zheng, Jingjing Zhang, Geyu Lu, Yu-Mo Zhang, Minjie Li, Sean Xiao-An Zhang
A biomimetic system on reversible bond-coupled electron transfer (BCET) has been proposed and investigated in a switchable Rh-N molecule with redox active subunits. We discover that energy barrier of C-N bond breaking is reduced dramatically to less than 1/7 (from 40.4 to 5.5 kcal/mol), and 1/3 of the oxidation potential is simultaneously lowered (from 0.67 to 0.43 V) with the oxidation of Rh-N. The concept, cation-coupled electron transfer (CCET), is highly recommended by analyzing existing proton coupled electron transfer (PCET) and metal coupled electron transfer (MCET) along with aforementioned BCET, which have same characteristic of transferring positive charges, such as proton, metal ion, and organic cation...
May 31, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28458958/the-intersection-of-oncology-prognosis-and-cancer-rehabilitation
#8
REVIEW
Sean Robinson Smith, Jasmine Yiqian Zheng
PURPOSE OF REVIEW: This review examines the delivery of rehabilitation care to cancer patients with relation to disease prognosis. This includes the evaluation when patients are referred for rehabilitation services and the effectiveness of rehabilitation interventions across the cancer continuum. RECENT FINDINGS: Although prognosticating life expectancy is difficult, referrals for rehabilitation interventions appear to be affected by physician attitudes towards patients with advanced disease, in part because of misconceptions about the nature of rehabilitation for oncology patients...
2017: Current Physical Medicine and Rehabilitation Reports
https://www.readbyqxmd.com/read/28436610/atomic-interface-engineering-and-electric-field-effect-in-ultrathin-bi2-moo6-nanosheets-for-superior-lithium-ion-storage
#9
Yang Zheng, Tengfei Zhou, Xudong Zhao, Wei Kong Pang, Hong Gao, Sean Li, Zhen Zhou, Huakun Liu, Zaiping Guo
Ultrathin 2D materials can offer promising opportunities for exploring advanced energy storage systems, with satisfactory electrochemical performance. Engineering atomic interfaces by stacking 2D crystals holds huge potential for tuning material properties at the atomic level, owing to the strong layer-layer interactions, enabling unprecedented physical properties. In this work, atomically thin Bi2 MoO6 sheets are acquired that exhibit remarkable high-rate cycling performance in Li-ion batteries, which can be ascribed to the interlayer coupling effect, as well as the 2D configuration and intrinsic structural stability...
April 24, 2017: Advanced Materials
https://www.readbyqxmd.com/read/28329280/implantable-cardioverter-defibrillators-for-primary-prevention-of-death-in-left-ventricular-dysfunction-with-and-without-ischaemic-heart-disease-a-meta-analysis-of-8567-patients-in-the-11-trials
#10
Matthew J Shun-Shin, Sean L Zheng, Graham D Cole, James P Howard, Zachary I Whinnett, Darrel P Francis
Aims: Primary prevention implantable cardioverter defibrillators (ICDs) are established therapy for reducing mortality in patients with left ventricular systolic dysfunction and ischaemic heart disease (IHD). However, their efficacy in patients without IHD has been controversial. We undertook a meta-analysis of the totality of the evidence. Methods and results: We systematically identified all RCTs comparing ICD vs. no ICD in primary prevention. Eligible RCTs were those that recruited patients with left ventricular dysfunction, reported all-cause mortality, and presented their results stratified by the presence of IHD (or recruited only those with or without)...
June 7, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28119368/gleason-score-7-prostate-cancers-emerge-through-branched-evolution-of-clonal-gleason-pattern-3-and-4
#11
Adam G Sowalsky, Haydn T Kissick, Sean J Gerrin, Rachel J Schaefer, Zheng Xia, Joshua W Russo, M Simo Arredouani, Glenn J Bubley, Martin G Sanda, Wei Li, Huihui Ye, Steven P Balk
Purpose: The molecular features that account for the distinct histology and aggressive biological behavior of Gleason pattern 4 (Gp4) versus Gp3 prostate cancer, and whether Gp3 tumors progress directly to Gp4, remain to be established.Experimental Design: Whole-exome sequencing and transcriptome profiling of laser capture-microdissected adjacent Gp3 and cribiform Gp4 were used to determine the relationship between these entities.Results: Sequencing confirmed that adjacent Gp3 and Gp4 were clonal based on multiple shared genomic alterations...
July 15, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28104689/identification-of-apilimod-as-a-first-in-class-pikfyve-kinase-inhibitor-for-treatment-of-b-cell-non-hodgkin-lymphoma
#12
Sophia Gayle, Sean Landrette, Neil Beeharry, Chris Conrad, Marylens Hernandez, Paul Beckett, Shawn M Ferguson, Talya Mandelkern, Meiling Zheng, Tian Xu, Jonathan Rothberg, Henri Lichenstein
We identified apilimod as an antiproliferative compound by high-throughput screening of clinical-stage drugs. Apilimod exhibits exquisite specificity for phosphatidylinositol-3-phosphate 5-kinase (PIKfyve) lipid kinase and has selective cytotoxic activity in B-cell non-Hodgkin lymphoma (B-NHL) compared with normal cells. Apilimod displays nanomolar activity in vitro, and in vivo studies demonstrate single-agent efficacy as well as synergy with approved B-NHL drugs. Using biochemical and knockdown approaches, and discovery of a kinase domain mutation conferring resistance, we demonstrate that apilimod-mediated cytotoxicity is driven by PIKfyve inhibition...
March 30, 2017: Blood
https://www.readbyqxmd.com/read/27984516/ultrasound-guided-needle-biopsy-of-neck-lymph-nodes-in-patients-with-suspected-lung-cancer-are-the-specimens-sufficient-for-complete-pathologic-evaluation-to-guide-patient-management
#13
Sean Duguay, Jason M Wagner, Wei Zheng, Johnny Ling, Lichao C Zhao, Karen S Allen, Justin C North, Subrato J Deb
BACKGROUND: The purpose of this study is to determine the ability of ultrasound guided needle biopsy of a neck lymph node to provide adequate tissue for complete pathologic evaluation of suspected metastatic lung cancer, including molecular testing for epidermal growth factor receptor gene mutations by pyrosequencing and anaplastic lymphoma kinase gene rearrangement by fluorescence in situ hybridization. METHODS: Institutional review board approval was obtained and the requirement for informed consent was waived...
June 2017: Ultrasound Quarterly
https://www.readbyqxmd.com/read/27983796/revealing-nanostructures-through-plasmon-polarimetry
#14
Marie-Elena Kleemann, Jan Mertens, Xuezhi Zheng, Sean Cormier, Vladimir Turek, Felix Benz, Rohit Chikkaraddy, William Deacon, Anna Lombardi, Victor V Moshchalkov, Guy A E Vandenbosch, Jeremy J Baumberg
Polarized optical dark-field spectroscopy is shown to be a versatile noninvasive probe of plasmonic structures that trap light to the nanoscale. Clear spectral polarization splittings are found to be directly related to the asymmetric morphology of nanocavities formed between faceted gold nanoparticles and an underlying gold substrate. Both experiment and simulation show the influence of geometry on the coupled system, with spectral shifts Δλ = 3 nm from single atoms. Analytical models allow us to identify the split resonances as transverse cavity modes, tightly confined to the nanogap...
December 22, 2016: ACS Nano
https://www.readbyqxmd.com/read/27919080/corrigendum-lens-regeneration-using-endogenous-stem-cells-with-gain-of-visual-function
#15
Haotian Lin, Hong Ouyang, Jie Zhu, Shan Huang, Zhenzhen Liu, Shuyi Chen, Guiqun Cao, Gen Li, Robert A J Signer, Yanxin Xu, Christopher Chung, Ying Zhang, Danni Lin, Sherrina Patel, Frances Wu, Huimin Cai, Jiayi Hou, Cindy Wen, Maryam Jafari, Xialin Liu, Lixia Luo, Jin Zhu, Austin Qiu, Rui Hou, Baoxin Chen, Jiangna Chen, David Granet, Christopher Heichel, Fu Shang, Xuri Li, Michal Krawczyk, Dorota Skowronska-Krawczyk, Yujuan Wang, William Shi, Daniel Chen, Zheng Zhong, Sheng Zhong, Liangfang Zhang, Shaochen Chen, Sean J Morrison, Richard L Maas, Kang Zhang, Yizhi Liu
No abstract text is available yet for this article.
January 26, 2017: Nature
https://www.readbyqxmd.com/read/27881084/assessing-characteristics-of-rna-amplification-methods-for-single-cell-rna-sequencing
#16
Hannah R Dueck, Rizi Ai, Adrian Camarena, Bo Ding, Reymundo Dominguez, Oleg V Evgrafov, Jian-Bing Fan, Stephen A Fisher, Jennifer S Herstein, Tae Kyung Kim, Jae Mun Hugo Kim, Ming-Yi Lin, Rui Liu, William J Mack, Sean McGroty, Joseph D Nguyen, Neeraj Salathia, Jamie Shallcross, Tade Souaiaia, Jennifer M Spaethling, Christopher P Walker, Jinhui Wang, Kai Wang, Wei Wang, Andre Wildberg, Lina Zheng, Robert H Chow, James Eberwine, James A Knowles, Kun Zhang, Junhyong Kim
BACKGROUND: Recently, measurement of RNA at single cell resolution has yielded surprising insights. Methods for single-cell RNA sequencing (scRNA-seq) have received considerable attention, but the broad reliability of single cell methods and the factors governing their performance are still poorly known. RESULTS: Here, we conducted a large-scale control experiment to assess the transfer function of three scRNA-seq methods and factors modulating the function. All three methods detected greater than 70% of the expected number of genes and had a 50% probability of detecting genes with abundance greater than 2 to 4 molecules...
November 24, 2016: BMC Genomics
https://www.readbyqxmd.com/read/27849176/both-adhe-and-a-separate-nadph-dependent-alcohol-dehydrogenase-adha-are-necessary-for-high-ethanol-production-in-thermoanaerobacterium-saccharolyticum
#17
Tianyong Zheng, Daniel G Olson, Sean J Murphy, Xiongjun Shao, Liang Tian, Lee R Lynd
Thermoanaerobacterium saccharolyticum has been engineered to produce ethanol at ∼90% theoretical yield and titer of 70 g/L. Its ethanol-producing ability has drawn attention to its metabolic pathways, which could potentially be transferred to other organisms of interest. Here we report that the iron-containing AdhA is important for ethanol production in the high-ethanol strain of T. saccharolyticum (LL1049). A single-gene deletion of adhA in LL1049 reduced ethanol production by ∼50%, whereas multiple gene deletions of all annotated alcohol dehydrogenases except adhA and adhE did not affect ethanol production...
November 14, 2016: Journal of Bacteriology
https://www.readbyqxmd.com/read/27687211/tissue-metabolism-and-host-microbial-interactions-in-the-intestinal-mucosa
#18
REVIEW
Carlene Chun, Leon Zheng, Sean P Colgan
In recent years, studies in the gastrointestinal (GI) mucosa have taught us a number of important lessons related to tissue oxygenation and metabolism in health and disease. The highly vascularized mucosa lies immediately adjacent to an anaerobic lumen containing trillions of metabolically active microbes (i.e. the microbiome) that results in one of the more austere tissue microenvironments in the body. These studies have also implicated a prominent role for oxygen metabolism and hypoxia in inflammation, so called "inflammatory hypoxia", that results from the activation of multiple oxygen consuming enzymes...
April 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/27604469/an-expanded-evaluation-of-protein-function-prediction-methods-shows-an-improvement-in-accuracy
#19
Yuxiang Jiang, Tal Ronnen Oron, Wyatt T Clark, Asma R Bankapur, Daniel D'Andrea, Rosalba Lepore, Christopher S Funk, Indika Kahanda, Karin M Verspoor, Asa Ben-Hur, Da Chen Emily Koo, Duncan Penfold-Brown, Dennis Shasha, Noah Youngs, Richard Bonneau, Alexandra Lin, Sayed M E Sahraeian, Pier Luigi Martelli, Giuseppe Profiti, Rita Casadio, Renzhi Cao, Zhaolong Zhong, Jianlin Cheng, Adrian Altenhoff, Nives Skunca, Christophe Dessimoz, Tunca Dogan, Kai Hakala, Suwisa Kaewphan, Farrokh Mehryary, Tapio Salakoski, Filip Ginter, Hai Fang, Ben Smithers, Matt Oates, Julian Gough, Petri Törönen, Patrik Koskinen, Liisa Holm, Ching-Tai Chen, Wen-Lian Hsu, Kevin Bryson, Domenico Cozzetto, Federico Minneci, David T Jones, Samuel Chapman, Dukka Bkc, Ishita K Khan, Daisuke Kihara, Dan Ofer, Nadav Rappoport, Amos Stern, Elena Cibrian-Uhalte, Paul Denny, Rebecca E Foulger, Reija Hieta, Duncan Legge, Ruth C Lovering, Michele Magrane, Anna N Melidoni, Prudence Mutowo-Meullenet, Klemens Pichler, Aleksandra Shypitsyna, Biao Li, Pooya Zakeri, Sarah ElShal, Léon-Charles Tranchevent, Sayoni Das, Natalie L Dawson, David Lee, Jonathan G Lees, Ian Sillitoe, Prajwal Bhat, Tamás Nepusz, Alfonso E Romero, Rajkumar Sasidharan, Haixuan Yang, Alberto Paccanaro, Jesse Gillis, Adriana E Sedeño-Cortés, Paul Pavlidis, Shou Feng, Juan M Cejuela, Tatyana Goldberg, Tobias Hamp, Lothar Richter, Asaf Salamov, Toni Gabaldon, Marina Marcet-Houben, Fran Supek, Qingtian Gong, Wei Ning, Yuanpeng Zhou, Weidong Tian, Marco Falda, Paolo Fontana, Enrico Lavezzo, Stefano Toppo, Carlo Ferrari, Manuel Giollo, Damiano Piovesan, Silvio C E Tosatto, Angela Del Pozo, José M Fernández, Paolo Maietta, Alfonso Valencia, Michael L Tress, Alfredo Benso, Stefano Di Carlo, Gianfranco Politano, Alessandro Savino, Hafeez Ur Rehman, Matteo Re, Marco Mesiti, Giorgio Valentini, Joachim W Bargsten, Aalt D J van Dijk, Branislava Gemovic, Sanja Glisic, Vladmir Perovic, Veljko Veljkovic, Nevena Veljkovic, Danillo C Almeida-E-Silva, Ricardo Z N Vencio, Malvika Sharan, Jörg Vogel, Lakesh Kansakar, Shanshan Zhang, Slobodan Vucetic, Zheng Wang, Michael J E Sternberg, Mark N Wass, Rachael P Huntley, Maria J Martin, Claire O'Donovan, Peter N Robinson, Yves Moreau, Anna Tramontano, Patricia C Babbitt, Steven E Brenner, Michal Linial, Christine A Orengo, Burkhard Rost, Casey S Greene, Sean D Mooney, Iddo Friedberg, Predrag Radivojac
BACKGROUND: A major bottleneck in our understanding of the molecular underpinnings of life is the assignment of function to proteins. While molecular experiments provide the most reliable annotation of proteins, their relatively low throughput and restricted purview have led to an increasing role for computational function prediction. However, assessing methods for protein function prediction and tracking progress in the field remain challenging. RESULTS: We conducted the second critical assessment of functional annotation (CAFA), a timed challenge to assess computational methods that automatically assign protein function...
September 7, 2016: Genome Biology
https://www.readbyqxmd.com/read/27595995/palb2-chek2-and-atm-rare-variants-and-cancer-risk-data-from-cogs
#20
Melissa C Southey, David E Goldgar, Robert Winqvist, Katri Pylkäs, Fergus Couch, Marc Tischkowitz, William D Foulkes, Joe Dennis, Kyriaki Michailidou, Elizabeth J van Rensburg, Tuomas Heikkinen, Heli Nevanlinna, John L Hopper, Thilo Dörk, Kathleen Bm Claes, Jorge Reis-Filho, Zhi Ling Teo, Paolo Radice, Irene Catucci, Paolo Peterlongo, Helen Tsimiklis, Fabrice A Odefrey, James G Dowty, Marjanka K Schmidt, Annegien Broeks, Frans B Hogervorst, Senno Verhoef, Jane Carpenter, Christine Clarke, Rodney J Scott, Peter A Fasching, Lothar Haeberle, Arif B Ekici, Matthias W Beckmann, Julian Peto, Isabel Dos-Santos-Silva, Olivia Fletcher, Nichola Johnson, Manjeet K Bolla, Elinor J Sawyer, Ian Tomlinson, Michael J Kerin, Nicola Miller, Federik Marme, Barbara Burwinkel, Rongxi Yang, Pascal Guénel, Thérèse Truong, Florence Menegaux, Marie Sanchez, Stig Bojesen, Sune F Nielsen, Henrik Flyger, Javier Benitez, M Pilar Zamora, Jose Ignacio Arias Perez, Primitiva Menéndez, Hoda Anton-Culver, Susan Neuhausen, Argyrios Ziogas, Christina A Clarke, Hermann Brenner, Volker Arndt, Christa Stegmaier, Hiltrud Brauch, Thomas Brüning, Yon-Dschun Ko, Taru A Muranen, Kristiina Aittomäki, Carl Blomqvist, Natalia V Bogdanova, Natalia N Antonenkova, Annika Lindblom, Sara Margolin, Arto Mannermaa, Vesa Kataja, Veli-Matti Kosma, Jaana M Hartikainen, Amanda B Spurdle, kConFab Investigators, Els Wauters, Dominiek Smeets, Benoit Beuselinck, Giuseppe Floris, Jenny Chang-Claude, Anja Rudolph, Petra Seibold, Dieter Flesch-Janys, Janet E Olson, Celine Vachon, Vernon S Pankratz, Catriona McLean, Christopher A Haiman, Brian E Henderson, Fredrick Schumacher, Loic Le Marchand, Vessela Kristensen, Grethe Grenaker Alnæs, Wei Zheng, David J Hunter, Sara Lindstrom, Susan E Hankinson, Peter Kraft, Irene Andrulis, Julia A Knight, Gord Glendon, Anna Marie Mulligan, Arja Jukkola-Vuorinen, Mervi Grip, Saila Kauppila, Peter Devilee, Robert A E M Tollenaar, Caroline Seynaeve, Antoinette Hollestelle, Montserrat Garcia-Closas, Jonine Figueroa, Stephen J Chanock, Jolanta Lissowska, Kamila Czene, Hatef Darabi, Mikael Eriksson, Diana M Eccles, Sajjad Rafiq, William J Tapper, Sue M Gerty, Maartje J Hooning, John W M Martens, J Margriet Collée, Madeleine Tilanus-Linthorst, Per Hall, Jingmei Li, Judith S Brand, Keith Humphreys, Angela Cox, Malcolm W R Reed, Craig Luccarini, Caroline Baynes, Alison M Dunning, Ute Hamann, Diana Torres, Hans Ulrich Ulmer, Thomas Rüdiger, Anna Jakubowska, Jan Lubinski, Katarzyna Jaworska, Katarzyna Durda, Susan Slager, Amanda E Toland, Christine B Ambrosone, Drakoulis Yannoukakos, Anthony Swerdlow, Alan Ashworth, Nick Orr, Michael Jones, Anna González-Neira, Guillermo Pita, M Rosario Alonso, Nuria Álvarez, Daniel Herrero, Daniel C Tessier, Daniel Vincent, Francois Bacot, Jacques Simard, Martine Dumont, Penny Soucy, Rosalind Eeles, Kenneth Muir, Fredrik Wiklund, Henrik Gronberg, Johanna Schleutker, Børge G Nordestgaard, Maren Weischer, Ruth C Travis, David Neal, Jenny L Donovan, Freddie C Hamdy, Kay-Tee Khaw, Janet L Stanford, William J Blot, Stephen Thibodeau, Daniel J Schaid, Joseph L Kelley, Christiane Maier, Adam S Kibel, Cezary Cybulski, Lisa Cannon-Albright, Katja Butterbach, Jong Park, Radka Kaneva, Jyotsna Batra, Manuel R Teixeira, Zsofia Kote-Jarai, Ali Amin Al Olama, Sara Benlloch, Stefan P Renner, Arndt Hartmann, Alexander Hein, Matthias Ruebner, Diether Lambrechts, Els Van Nieuwenhuysen, Ignace Vergote, Sandrina Lambretchs, Jennifer A Doherty, Mary Anne Rossing, Stefan Nickels, Ursula Eilber, Shan Wang-Gohrke, Kunle Odunsi, Lara E Sucheston-Campbell, Grace Friel, Galina Lurie, Jeffrey L Killeen, Lynne R Wilkens, Marc T Goodman, Ingo Runnebaum, Peter A Hillemanns, Liisa M Pelttari, Ralf Butzow, Francesmary Modugno, Robert P Edwards, Roberta B Ness, Kirsten B Moysich, Andreas du Bois, Florian Heitz, Philipp Harter, Stefan Kommoss, Beth Y Karlan, Christine Walsh, Jenny Lester, Allan Jensen, Susanne Krüger Kjaer, Estrid Høgdall, Bernard Peissel, Bernardo Bonanni, Loris Bernard, Ellen L Goode, Brooke L Fridley, Robert A Vierkant, Julie M Cunningham, Melissa C Larson, Zachary C Fogarty, Kimberly R Kalli, Dong Liang, Karen H Lu, Michelle A T Hildebrandt, Xifeng Wu, Douglas A Levine, Fanny Dao, Maria Bisogna, Andrew Berchuck, Edwin S Iversen, Jeffrey R Marks, Lucy Akushevich, Daniel W Cramer, Joellen Schildkraut, Kathryn L Terry, Elizabeth M Poole, Meir Stampfer, Shelley S Tworoger, Elisa V Bandera, Irene Orlow, Sara H Olson, Line Bjorge, Helga B Salvesen, Anne M van Altena, Katja K H Aben, Lambertus A Kiemeney, Leon F A G Massuger, Tanja Pejovic, Yukie Bean, Angela Brooks-Wilson, Linda E Kelemen, Linda S Cook, Nhu D Le, Bohdan Górski, Jacek Gronwald, Janusz Menkiszak, Claus K Høgdall, Lene Lundvall, Lotte Nedergaard, Svend Aage Engelholm, Ed Dicks, Jonathan Tyrer, Ian Campbell, Iain McNeish, James Paul, Nadeem Siddiqui, Rosalind Glasspool, Alice S Whittemore, Joseph H Rothstein, Valerie McGuire, Weiva Sieh, Hui Cai, Xiao-Ou Shu, Rachel T Teten, Rebecca Sutphen, John R McLaughlin, Steven A Narod, Catherine M Phelan, Alvaro N Monteiro, David Fenstermacher, Hui-Yi Lin, Jennifer B Permuth, Thomas A Sellers, Y Ann Chen, Ya-Yu Tsai, Zhihua Chen, Aleksandra Gentry-Maharaj, Simon A Gayther, Susan J Ramus, Usha Menon, Anna H Wu, Celeste L Pearce, David Van Den Berg, Malcolm C Pike, Agnieszka Dansonka-Mieszkowska, Joanna Plisiecka-Halasa, Joanna Moes-Sosnowska, Jolanta Kupryjanczyk, Paul Dp Pharoah, Honglin Song, Ingrid Winship, Georgia Chenevix-Trench, Graham G Giles, Sean V Tavtigian, Doug F Easton, Roger L Milne
BACKGROUND: The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with rare BRCA2 mutations. We aimed to estimate the relative risks associated with specific rare variants in PALB2, CHEK2 and ATM via a multicentre case-control study. METHODS: We genotyped 10 rare mutations using the custom iCOGS array: PALB2 c...
December 2016: Journal of Medical Genetics
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