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Annie Gravel, Isabelle Dubuc, Angela Brooks-Wilson, Kristan J Aronson, Jacques Simard, Hector Velasquez-Garcia, John J Spinelli, Louis Flamand
Background Inherited chromosomally-integrated human herpesvirus 6 (iciHHV-6) is a condition observed in approximately 1% of the population. Whether such a genetic alteration predisposes to cancer development in currently unknown. Two studies were conducted to determine whether iciHHV-6 is associated with cancer development. Methods First, a screen of 19,597 people from the province of Quebec was conducted. A replication test, using data from a population-based case-control study of 1090 women with incident breast cancer and 1053 controls from British Columbia and Ontario was conducted...
October 24, 2016: Cancer Epidemiology, Biomarkers & Prevention
Sana Iqbal, Erik G Hayman, Caron Hong, Jesse A Stokum, David B Kurland, Volodymyr Gerzanich, J Marc Simard
Aneurysmal subarachnoid hemorrhage (SAH) typically carries a poor prognosis. Growing evidence indicates that overabundant production of nitric oxide (NO) may be responsible for a large part of the secondary injury that follows SAH. Although SAH modulates the activity of all three isoforms of nitric oxide synthase (NOS), the inducible isoform, NOS-2, accounts for a majority of NO-mediated secondary injuries after SAH. Here, we review the indispensable physiological roles of NO that must be preserved, even while attempting to downmodulate the pathophysiologic effects of NO that are induced by SAH...
2016: Brain Circulation
Ali Pourdjabbar, Benjamin Hibbert, Aun-Yeong Chong, Michel R Le May, Marino Labinaz, Trevor Simard, F Daniel Ramirez, Peter Lugomirski, Ronnen Maze, Michael Froeschl, Christopher Glover, Alexander Dick, Jean-Francois Marquis, Jordan Bernick, George Wells, Derek Y F So
Ticagrelor has been endorsed by guidelines as the P2Y12 inhibitor of choice in patients with acute coronary syndrome. Clinically, some patients on ticagrelor will require a switch to clopidogrel; however, the optimal strategy and pharmacodynamics effects of switching remain unknown. Patients with an indication to switch were randomly assigned to either a bolus arm (Clopidogrel 600 mg bolus followed by 75 mg daily, n=30) or a no-bolus arm (Clopidogrel 75 mg daily, n=30). Blood samples were collected at baseline, 12, 24, 48, 54, 60 and 72 hours (h) for assessment of platelet reactivity...
October 20, 2016: Thrombosis and Haemostasis
Xuesong Han, Ahmedin Jemal, Erin Hulland, Edgar P Simard, Loretta Nastoupil, Elizabeth M Ward, Christopher R Flowers
BACKGROUND: Highly active antiretroviral therapy (HAART) has extended the life expectancy of HIV/AIDS patients to approach that of the general population. However, it remains unclear whether HIV infection affects the survival of lymphoma patients in the HAART era. METHODS: Patients diagnosed with Hodgkin lymphoma (HL), diffuse large B-cell lymphoma (DLBCL), Burkitt lymphoma (BL), peripheral T-cell lymphoma (PTCL) or follicular lymphoma (FL) during 2004-2011 were identified from the National Cancer Database...
October 18, 2016: Cancer Epidemiology, Biomarkers & Prevention
Géraldine Layani, Richard Fleet, Renée Dallaire, Fatoumata K Tounkara, Julien Poitras, Patrick Archambault, Jean-Marc Chauny, Mathieu Ouimet, Josée Gauthier, Gilles Dupuis, Alain Tanguay, Jean-Frédéric Lévesque, Geneviève Simard-Racine, Jeannie Haggerty, France Légaré
BACKGROUND: Evidence-based indicators of quality of care have been developed to improve care and performance in Canadian emergency departments. The feasibility of measuring these indicators has been assessed mainly in urban and academic emergency departments. We sought to assess the feasibility of measuring quality-of-care indicators in rural emergency departments in Quebec. METHODS: We previously identified rural emergency departments in Quebec that offered medical coverage with hospital beds 24 hours a day, 7 days a week and were located in rural areas or small towns as defined by Statistics Canada...
July 2016: CMAJ Open
Corey J A Bradshaw, Boris Leroy, Céline Bellard, David Roiz, Céline Albert, Alice Fournier, Morgane Barbet-Massin, Jean-Michel Salles, Frédéric Simard, Franck Courchamp
Insects have presented human society with some of its greatest development challenges by spreading diseases, consuming crops and damaging infrastructure. Despite the massive human and financial toll of invasive insects, cost estimates of their impacts remain sporadic, spatially incomplete and of questionable quality. Here we compile a comprehensive database of economic costs of invasive insects. Taking all reported goods and service estimates, invasive insects cost a minimum of US$70.0 billion per year globally, while associated health costs exceed US$6...
October 4, 2016: Nature Communications
Christopher I Amos, Joe Dennis, Zhaoming Wang, Jinyoung Byun, Fredrick R Schumacher, Simon A Gayther, Graham Casey, David J Hunter, Thomas A Sellers, Stephen B Gruber, Alison M Dunning, Kyriaki Michailidou, Laura Fachal, Kimberly Doheny, Amanda B Spurdle, Yafang Li, Xiangjun Xiao, Jane Romm, Elizabeth Pugh, Gerhard A Coetzee, Dennis J Hazelett, Stig E Bojesen, Charlisse Caga-Anan, Christopher A Haiman, Ahsan Kamal, Craig Luccarini, Daniel Tessier, Daniel Vincent, Francois Bacot, David J Van Den Berg, Stefanie Nelson, Stephen Demetriades, David E Goldgar, Fergus J Couch, Judith L Forman, Graham G Giles, David V Conti, Heike Bickeböller, Angela Risch, Melanie Waldenberger, Irene Brüske-Hohlfeld, Belynda D Hicks, Hua Ling, Lesley McGuffog, Andrew Lee, Karoline Kuchenbaecker, Penny Soucy, Judith Manz, Julie M Cunningham, Katja Butterbach, Zsofia Kote-Jarai, Peter Kraft, Liesel FitzGerald, Sara Lindstrom, Marcia Adams, James D McKay, Catherine M Phelan, Sara Benlloch, Linda E Kelemen, Paul Brennan, Marjorie Riggan, Tracy A O'Mara, Hongbing Shen, Yong-Yong Shi, Deborah J Thompson, Marc T Goodman, Sune F Nielsen, Andrew Berchuck, Sylvie Laboissiere, Stephanie L Schmit, Tameka Shelford, Christopher K Edlund, Jack A Taylor, John Kirkpatrick Field, Sue K Park, Kenneth Offit, Mads Thomassen, Rita Schmutzler, Laura Ottini, Rayjean J Hung, Jonathan Marchini, Ali Amin Al Olama, Ulrike Peters, Rosalind A Eeles, Michael F Seldin, Elizabeth Gillanders, Daniela Seminara, Antonis C Antoniou, Paul D P Pharoah, Georgia Chenevix-Trench, Stephen J Chanock, Jacques Simard, Douglas F Easton
BACKGROUND: Common cancers develop through a multistep process often including inherited susceptibility. Collaboration among multiple institutions, and funding from multiple sources, has allowed the development of an inexpensive genotyping microarray, the OncoArray. The array includes a genome-wide backbone, comprising 230,000 SNPs tagging most common genetic variants, together with dense mapping of known susceptibility regions, rare variants from sequencing experiments, pharmacogenetic markers and cancer related traits...
October 3, 2016: Cancer Epidemiology, Biomarkers & Prevention
Jinoos Yazdany, Nick Bansback, Megan Clowse, Deborah Collier, Karen Law, Katherine P Liao, Kaleb Michaud, Esi M Morgan, James C Oates, Catalina Orozco, Andreas Reimold, Julia F Simard, Rachel Myslinski, Salahuddin Kazi
BACKGROUND: The Rheumatology Informatics System for Effectiveness (RISE) is a national electronic medical record (EMR)-enabled registry. RISE passively collects data from EMRs of participating practices, provides advanced quality measurement and data analytic capacities, and fulfills national quality reporting requirements. Here we report the registry's architecture and initial data, and demonstrate how RISE is being used to improve the quality of care. METHODS: RISE is a certified Centers for Medicare and Medicaid Services Qualified Clinical Data Registry, allowing collection of data without individual patient informed consent...
October 1, 2016: Arthritis Care & Research
David H St-Pierre, Julie Martin, Hiroyuki Shimizu, Yuko Tagaya, Takahumi Tsuchiya, Simon Marceau, Laurent Biertho, Marjorie Bastien, Sarah-Maude Caron-Cantin, Serge Simard, Denis Richard, Katherine Cianflone, Paul Poirier
CONTEXT: Nesfatin-1 is a neuroendocrine peptide with potent anorexigenic activity in rodents. The potential role of nesfatin-1 on the regulation of energy balance, metabolic functions and inflammation is currently debated in obese humans. In the present study, nesfatin-1 fluctuations and their associations with metabolic factors were investigated in severely obese patients who underwent biliopancreatic diversion with duodenal switch (BPD/DS) and severely obese controls (SOC). BASIC PROCEDURES: Sixty severely obese patients who underwent BPD/DS and 15 SOC (matched for BMI and age) were included in the study...
September 25, 2016: Peptides
Alain Kohl, Emilie Pondeville, Esther Schnettler, Andrea Crisanti, Clelia Supparo, George K Christophides, Paul J Kersey, Gareth L Maslen, Willem Takken, Constantianus J M Koenraadt, Clelia F Oliva, Núria Busquets, F Xavier Abad, Anna-Bella Failloux, Elena A Levashina, Anthony J Wilson, Eva Veronesi, Maëlle Pichard, Sarah Arnaud Marsh, Frédéric Simard, Kenneth D Vernick
Vector-borne pathogens impact public health, animal production, and animal welfare. Research on arthropod vectors such as mosquitoes, ticks, sandflies, and midges which transmit pathogens to humans and economically important animals is crucial for development of new control measures that target transmission by the vector. While insecticides are an important part of this arsenal, appearance of resistance mechanisms is increasingly common. Novel tools for genetic manipulation of vectors, use of Wolbachia endosymbiotic bacteria, and other biological control mechanisms to prevent pathogen transmission have led to promising new intervention strategies, adding to strong interest in vector biology and genetics as well as vector-pathogen interactions...
June 2016: Pathogens and Global Health
Juan Manuel Chao de la Barca, Oussama Bakhta, Hussein Kalakech, Gilles Simard, Sophie Tamareille, Véronique Catros, Jacques Callebert, Cédric Gadras, Lydie Tessier, Pascal Reynier, Fabrice Prunier, Delphine Mirebeau-Prunier
BACKGROUND: Remote ischemic preconditioning (RIPC) is an attractive therapeutic procedure for protecting the heart against ischemia/reperfusion injury. Despite evidence of humoral mediators transported through the circulation playing a critical role, their actual identities so far remain unknown. We sought to identify plasmatic RIPC-induced metabolites that may play a role. METHODS AND RESULTS: Rat plasma samples from RIPC and control groups were analyzed using a targeted metabolomic approach aimed at measuring 188 metabolites...
2016: Journal of the American Heart Association
Gregory J Pec, Justine Karst, D Lee Taylor, Paul W Cigan, Nadir Erbilgin, Janice E K Cooke, Suzanne W Simard, James F Cahill
Western North American landscapes are rapidly being transformed by forest die-off caused by mountain pine beetle (Dendroctonus ponderosae), with implications for plant and soil communities. The mechanisms that drive changes in soil community structure, particularly for the highly prevalent ectomycorrhizal fungi in pine forests, are complex and intertwined. Critical to enhancing understanding will be disentangling the relative importance of host tree mortality from changes in soil chemistry following tree death...
September 23, 2016: New Phytologist
Chris Wang, Pratyush Gupta, Lucile Fressigne, Gabriel D Bossé, Xin Wang, Martin J Simard, Dave Hansen
MiRNAs post-transcriptionally regulate gene expression by recruiting the miRNA-induced silencing complex (miRISC) to target mRNAs. However, the mechanisms by which miRISC components are maintained at appropriate levels for proper function are largely unknown. Here, we demonstrate that Caenorhabditis elegans TEG-1 regulates the stability of two miRISC effectors, VIG-1 and ALG-1, which in turn affects the abundance of miRNAs in various families. We demonstrate that TEG-1 physically interacts with VIG-1, and complexes with mature let-7 miRNA...
September 19, 2016: Nucleic Acids Research
Maya Ghoussaini, Juliet D French, Kyriaki Michailidou, Silje Nord, Jonathan Beesley, Sander Canisus, Kristine M Hillman, Susanne Kaufmann, Haran Sivakumaran, Mahdi Moradi Marjaneh, Jason S Lee, Joe Dennis, Manjeet K Bolla, Qin Wang, Ed Dicks, Roger L Milne, John L Hopper, Melissa C Southey, Marjanka K Schmidt, Annegien Broeks, Kenneth Muir, Artitaya Lophatananon, Peter A Fasching, Matthias W Beckmann, Olivia Fletcher, Nichola Johnson, Elinor J Sawyer, Ian Tomlinson, Barbara Burwinkel, Frederik Marme, Pascal Guénel, Thérèse Truong, Stig E Bojesen, Henrik Flyger, Javier Benitez, Anna González-Neira, M Rosario Alonso, Guillermo Pita, Susan L Neuhausen, Hoda Anton-Culver, Hermann Brenner, Volker Arndt, Alfons Meindl, Rita K Schmutzler, Hiltrud Brauch, Ute Hamann, Daniel C Tessier, Daniel Vincent, Heli Nevanlinna, Sofia Khan, Keitaro Matsuo, Hidemi Ito, Thilo Dörk, Natalia V Bogdanova, Annika Lindblom, Sara Margolin, Arto Mannermaa, Veli-Matti Kosma, Anna H Wu, David Van Den Berg, Diether Lambrechts, Giuseppe Floris, Jenny Chang-Claude, Anja Rudolph, Paolo Radice, Monica Barile, Fergus J Couch, Emily Hallberg, Graham G Giles, Christopher A Haiman, Loic Le Marchand, Mark S Goldberg, Soo H Teo, Cheng Har Yip, Anne-Lise Borresen-Dale, Wei Zheng, Qiuyin Cai, Robert Winqvist, Katri Pylkäs, Irene L Andrulis, Peter Devilee, Rob A E M Tollenaar, Montserrat García-Closas, Jonine Figueroa, Per Hall, Kamila Czene, Judith S Brand, Hatef Darabi, Mikael Eriksson, Maartje J Hooning, Linetta B Koppert, Jingmei Li, Xiao-Ou Shu, Ying Zheng, Angela Cox, Simon S Cross, Mitul Shah, Valerie Rhenius, Ji-Yeob Choi, Daehee Kang, Mikael Hartman, Kee Seng Chia, Maria Kabisch, Diana Torres, Craig Luccarini, Don M Conroy, Anna Jakubowska, Jan Lubinski, Suleeporn Sangrajrang, Paul Brennan, Curtis Olswold, Susan Slager, Chen-Yang Shen, Ming-Feng Hou, Anthony Swerdlow, Minouk J Schoemaker, Jacques Simard, Paul D P Pharoah, Vessela Kristensen, Georgia Chenevix-Trench, Douglas F Easton, Alison M Dunning, Stacey L Edwards
Genome-wide association studies (GWASs) have revealed increased breast cancer risk associated with multiple genetic variants at 5p12. Here, we report the fine mapping of this locus using data from 104,660 subjects from 50 case-control studies in the Breast Cancer Association Consortium (BCAC). With data for 3,365 genotyped and imputed SNPs across a 1 Mb region (positions 44,394,495-45,364,167; NCBI build 37), we found evidence for at least three independent signals: the strongest signal, consisting of a single SNP rs10941679, was associated with risk of estrogen-receptor-positive (ER(+)) breast cancer (per-g allele OR ER(+) = 1...
October 6, 2016: American Journal of Human Genetics
Juan Manuel Chao de la Barca, Gilles Simard, Patrizia Amati-Bonneau, Zainab Safiedeen, Delphine Prunier-Mirebeau, Stéphanie Chupin, Cédric Gadras, Lydie Tessier, Naïg Gueguen, Arnaud Chevrollier, Valérie Desquiret-Dumas, Marc Ferré, Céline Bris, Judith Kouassi Nzoughet, Cinzia Bocca, Stéphanie Leruez, Christophe Verny, Dan Miléa, Dominique Bonneau, Guy Lenaers, M Carmen Martinez, Vincent Procaccio, Pascal Reynier
Leber's hereditary optic neuropathy (MIM#535000), the commonest mitochondrial DNA-related disease, is caused by mutations affecting mitochondrial complex I. The clinical expression of the disorder, usually occurring in young adults, is typically characterized by subacute, usually sequential, bilateral visual loss, resulting from the degeneration of retinal ganglion cells. As the precise action of mitochondrial DNA mutations on the overall cell metabolism in Leber's hereditary optic neuropathy is unknown, we investigated the metabolomic profile of the disease...
September 15, 2016: Brain: a Journal of Neurology
Craig I Coleman, Matthias Antz, Kevin Bowrin, Thomas Evers, Edgar P Simard, Hendrik Bonnemeier, Riccardo Cappato
BACKGROUND: Little data exists regarding the effectiveness and safety of rivaroxaban or apixaban versus warfarin in nonvalvular atrial fibrillation (NVAF) patients treated outside of clinical trials. METHODS: This was a retrospective study using MarketScan claims from January 2012 to October 2014. We included adults, newly initiated on rivaroxaban, apixaban or warfarin, with a baseline CHA2DS2-VASc score ≥2, ≥2 diagnosis codes for NVAF and ≥180 days of continuous medical and prescription benefits...
September 20, 2016: Current Medical Research and Opinion
Johanna H K Kauppila, Holly L Baines, Ana Bratic, Marie-Lune Simard, Christoph Freyer, Arnaud Mourier, Craig Stamp, Roberta Filograna, Nils-Göran Larsson, Laura C Greaves, James B Stewart
Mutations of mtDNA are an important cause of human disease, but few animal models exist. Because mammalian mitochondria cannot be transfected, the development of mice with pathogenic mtDNA mutations has been challenging, and the main strategy has therefore been to introduce mutations found in cell lines into mouse embryos. Here, we describe a phenotype-driven strategy that is based on detecting clonal expansion of pathogenic mtDNA mutations in colonic crypts of founder mice derived from heterozygous mtDNA mutator mice...
September 13, 2016: Cell Reports
François Lellouche, Pierre-Alexandre Bouchard, Maude Roberge, Serge Simard, Erwan L'Her, François Maltais, Yves Lacasse
INTRODUCTION: We developed a device (FreeO2) that automatically adjusts the oxygen flow rates based on patients' needs, in order to limit hyperoxia and hypoxemia and to automatically wean them from oxygen. OBJECTIVE: The aim of this study was to evaluate the feasibility of using FreeO2 in patients hospitalized in the respiratory ward for an acute exacerbation of COPD. METHODS: We conducted a randomized controlled trial comparing FreeO2 vs manual oxygen titration in the respiratory ward of a university hospital...
2016: International Journal of Chronic Obstructive Pulmonary Disease
Kate Lawrenson, Siddhartha Kar, Karen McCue, Karoline Kuchenbaeker, Kyriaki Michailidou, Jonathan Tyrer, Jonathan Beesley, Susan J Ramus, Qiyuan Li, Melissa K Delgado, Janet M Lee, Kristiina Aittomäki, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Banu K Arun, Brita Arver, Elisa V Bandera, Monica Barile, Rosa B Barkardottir, Daniel Barrowdale, Matthias W Beckmann, Javier Benitez, Andrew Berchuck, Maria Bisogna, Line Bjorge, Carl Blomqvist, William Blot, Natalia Bogdanova, Anders Bojesen, Stig E Bojesen, Manjeet K Bolla, Bernardo Bonanni, Anne-Lise Børresen-Dale, Hiltrud Brauch, Paul Brennan, Hermann Brenner, Fiona Bruinsma, Joan Brunet, Shaik Ahmad Buhari, Barbara Burwinkel, Ralf Butzow, Saundra S Buys, Qiuyin Cai, Trinidad Caldes, Ian Campbell, Rikki Canniotto, Jenny Chang-Claude, Jocelyne Chiquette, Ji-Yeob Choi, Kathleen B M Claes, Linda S Cook, Angela Cox, Daniel W Cramer, Simon S Cross, Cezary Cybulski, Kamila Czene, Mary B Daly, Francesca Damiola, Agnieszka Dansonka-Mieszkowska, Hatef Darabi, Joe Dennis, Peter Devilee, Orland Diez, Jennifer A Doherty, Susan M Domchek, Cecilia M Dorfling, Thilo Dörk, Martine Dumont, Hans Ehrencrona, Bent Ejlertsen, Steve Ellis, Christoph Engel, Eunjung Lee, D Gareth Evans, Peter A Fasching, Lidia Feliubadalo, Jonine Figueroa, Dieter Flesch-Janys, Olivia Fletcher, Henrik Flyger, Lenka Foretova, Florentia Fostira, William D Foulkes, Brooke L Fridley, Eitan Friedman, Debra Frost, Gaetana Gambino, Patricia A Ganz, Judy Garber, Montserrat García-Closas, Aleksandra Gentry-Maharaj, Maya Ghoussaini, Graham G Giles, Rosalind Glasspool, Andrew K Godwin, Mark S Goldberg, David E Goldgar, Anna González-Neira, Ellen L Goode, Marc T Goodman, Mark H Greene, Jacek Gronwald, Pascal Guénel, Christopher A Haiman, Per Hall, Emily Hallberg, Ute Hamann, Thomas V O Hansen, Patricia A Harrington, Mikael Hartman, Norhashimah Hassan, Sue Healey, Florian Heitz, Josef Herzog, Estrid Høgdall, Claus K Høgdall, Frans B L Hogervorst, Antoinette Hollestelle, John L Hopper, Peter J Hulick, Tomasz Huzarski, Evgeny N Imyanitov, Claudine Isaacs, Hidemi Ito, Anna Jakubowska, Ramunas Janavicius, Allan Jensen, Esther M John, Nichola Johnson, Maria Kabisch, Daehee Kang, Miroslav Kapuscinski, Beth Y Karlan, Sofia Khan, Lambertus A Kiemeney, Susanne Kruger Kjaer, Julia A Knight, Irene Konstantopoulou, Veli-Matti Kosma, Vessela Kristensen, Jolanta Kupryjanczyk, Ava Kwong, Miguel de la Hoya, Yael Laitman, Diether Lambrechts, Nhu Le, Kim De Leeneer, Jenny Lester, Douglas A Levine, Jingmei Li, Annika Lindblom, Jirong Long, Artitaya Lophatananon, Jennifer T Loud, Karen Lu, Jan Lubinski, Arto Mannermaa, Siranoush Manoukian, Loic Le Marchand, Sara Margolin, Frederik Marme, Leon F A G Massuger, Keitaro Matsuo, Sylvie Mazoyer, Lesley McGuffog, Catriona McLean, Iain McNeish, Alfons Meindl, Usha Menon, Arjen R Mensenkamp, Roger L Milne, Marco Montagna, Kirsten B Moysich, Kenneth Muir, Anna Marie Mulligan, Katherine L Nathanson, Roberta B Ness, Susan L Neuhausen, Heli Nevanlinna, Silje Nord, Robert L Nussbaum, Kunle Odunsi, Kenneth Offit, Edith Olah, Olufunmilayo I Olopade, Janet E Olson, Curtis Olswold, David O'Malley, Irene Orlow, Nick Orr, Ana Osorio, Sue Kyung Park, Celeste L Pearce, Tanja Pejovic, Paolo Peterlongo, Georg Pfeiler, Catherine M Phelan, Elizabeth M Poole, Katri Pylkäs, Paolo Radice, Johanna Rantala, Muhammad Usman Rashid, Gad Rennert, Valerie Rhenius, Kerstin Rhiem, Harvey A Risch, Gus Rodriguez, Mary Anne Rossing, Anja Rudolph, Helga B Salvesen, Suleeporn Sangrajrang, Elinor J Sawyer, Joellen M Schildkraut, Marjanka K Schmidt, Rita K Schmutzler, Thomas A Sellers, Caroline Seynaeve, Mitul Shah, Chen-Yang Shen, Xiao-Ou Shu, Weiva Sieh, Christian F Singer, Olga M Sinilnikova, Susan Slager, Honglin Song, Penny Soucy, Melissa C Southey, Marie Stenmark-Askmalm, Dominique Stoppa-Lyonnet, Christian Sutter, Anthony Swerdlow, Sandrine Tchatchou, Manuel R Teixeira, Soo H Teo, Kathryn L Terry, Mary Beth Terry, Mads Thomassen, Maria Grazia Tibiletti, Laima Tihomirova, Silvia Tognazzo, Amanda Ewart Toland, Ian Tomlinson, Diana Torres, Thérèse Truong, Chiu-Chen Tseng, Nadine Tung, Shelley S Tworoger, Celine Vachon, Ans M W van den Ouweland, Helena C van Doorn, Elizabeth J van Rensburg, Laura J Van't Veer, Adriaan Vanderstichele, Ignace Vergote, Joseph Vijai, Qin Wang, Shan Wang-Gohrke, Jeffrey N Weitzel, Nicolas Wentzensen, Alice S Whittemore, Hans Wildiers, Robert Winqvist, Anna H Wu, Drakoulis Yannoukakos, Sook-Yee Yoon, Jyh-Cherng Yu, Wei Zheng, Ying Zheng, Kum Kum Khanna, Jacques Simard, Alvaro N Monteiro, Juliet D French, Fergus J Couch, Matthew L Freedman, Douglas F Easton, Alison M Dunning, Paul D Pharoah, Stacey L Edwards, Georgia Chenevix-Trench, Antonis C Antoniou, Simon A Gayther
A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10(-20)), ER-negative BC (P=1.1 × 10(-13)), BRCA1-associated BC (P=7.7 × 10(-16)) and triple negative BC (P-diff=2 × 10(-5)). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10(-3)) and ABHD8 (P<2 × 10(-3))...
2016: Nature Communications
Hatef Darabi, Jonathan Beesley, Arnaud Droit, Siddhartha Kar, Silje Nord, Mahdi Moradi Marjaneh, Penny Soucy, Kyriaki Michailidou, Maya Ghoussaini, Hanna Fues Wahl, Manjeet K Bolla, Qin Wang, Joe Dennis, M Rosario Alonso, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Matthias W Beckmann, Javier Benitez, Natalia V Bogdanova, Stig E Bojesen, Hiltrud Brauch, Hermann Brenner, Annegien Broeks, Thomas Brüning, Barbara Burwinkel, Jenny Chang-Claude, Ji-Yeob Choi, Don M Conroy, Fergus J Couch, Angela Cox, Simon S Cross, Kamila Czene, Peter Devilee, Thilo Dörk, Douglas F Easton, Peter A Fasching, Jonine Figueroa, Olivia Fletcher, Henrik Flyger, Eva Galle, Montserrat García-Closas, Graham G Giles, Mark S Goldberg, Anna González-Neira, Pascal Guénel, Christopher A Haiman, Emily Hallberg, Ute Hamann, Mikael Hartman, Antoinette Hollestelle, John L Hopper, Hidemi Ito, Anna Jakubowska, Nichola Johnson, Daehee Kang, Sofia Khan, Veli-Matti Kosma, Mieke Kriege, Vessela Kristensen, Diether Lambrechts, Loic Le Marchand, Soo Chin Lee, Annika Lindblom, Artitaya Lophatananon, Jan Lubinski, Arto Mannermaa, Siranoush Manoukian, Sara Margolin, Keitaro Matsuo, Rebecca Mayes, James McKay, Alfons Meindl, Roger L Milne, Kenneth Muir, Susan L Neuhausen, Heli Nevanlinna, Curtis Olswold, Nick Orr, Paolo Peterlongo, Guillermo Pita, Katri Pylkäs, Anja Rudolph, Suleeporn Sangrajrang, Elinor J Sawyer, Marjanka K Schmidt, Rita K Schmutzler, Caroline Seynaeve, Mitul Shah, Chen-Yang Shen, Xiao-Ou Shu, Melissa C Southey, Daniel O Stram, Harald Surowy, Anthony Swerdlow, Soo H Teo, Daniel C Tessier, Ian Tomlinson, Diana Torres, Thérèse Truong, Celine M Vachon, Daniel Vincent, Robert Winqvist, Anna H Wu, Pei-Ei Wu, Cheng Har Yip, Wei Zheng, Paul D P Pharoah, Per Hall, Stacey L Edwards, Jacques Simard, Juliet D French, Georgia Chenevix-Trench, Alison M Dunning
Genome-wide association studies have found SNPs at 17q22 to be associated with breast cancer risk. To identify potential causal variants related to breast cancer risk, we performed a high resolution fine-mapping analysis that involved genotyping 517 SNPs using a custom Illumina iSelect array (iCOGS) followed by imputation of genotypes for 3,134 SNPs in more than 89,000 participants of European ancestry from the Breast Cancer Association Consortium (BCAC). We identified 28 highly correlated common variants, in a 53 Kb region spanning two introns of the STXBP4 gene, that are strong candidates for driving breast cancer risk (lead SNP rs2787486 (OR = 0...
2016: Scientific Reports
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