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Psychometric properties of an innovative smartphone application to investigate the daily impact of hypoglycemia in people with type 1 or type 2 diabetes
Uffe Søholm, Melanie Broadley, Natalie Zaremba, Patrick Divilly, Giesje Nefs, Jill Carlton, Julia K Mader, Petra Martina Baumann, Mikel Gomes, Gilberte Martine-Edith, Daniel J Pollard, Dajana Rath, Simon Heller, Ulrik Pedersen-Bjergaard, Rory J McCrimmon, Eric Renard, Mark Evans, Bastiaan de Galan, Thomas Forkmann, Stephanie A Amiel, Christel Hendrieckx, Jane Speight, Pratik Choudhary, Frans Pouwer
Apr 17, 2023
Introduction
The aim of this study was to determine the acceptability and psychometric properties of the Hypo-METRICS (Hypoglycemia MEasurement, ThResholds and ImpaCtS) application (app): a novel tool designed to assess...
Humans Diabetes mellitus Type 1 Diabetes mellitus Type 2 Hypoglycemia Insulin Reproducibility of Results Psychometrics Adult Aged Middle Aged Benchmarking Mobile Applications Smartphone Surveys and Questionnaires
Published by: PLOS ONE
Hypo‐METRICS: Hypoglycaemia—MEasurement, ThResholds and ImpaCtS—A multi‐country clinical study to define the optimal threshold and duration of sensor‐detected hypoglycaemia that impact the experience of hypoglycaemia, quality of life and health economic outcomes
Patrick Divilly, Natalie Zaremba, Zeinab Mahmoudi, Uffe Søholm, Daniel J Pollard, Melanie Broadley, Evertine J Abbink, Bastiaan de Galan, Ulrik Pedersen‐Bjergaard, Eric Renard, Mark Evans, Jane Speight, Alan Brennan, Rory J McCrimmon, Matthias Müllenborn, Simon Heller, Alexander Seibold, Julia K Mader, Stephanie A Amiel, Frans Pouwer, Pratik Choudhary
Jun 29, 2022
Psychometric properties of an innovative smartphone application to investigate the daily impact of hypoglycemia in people with type 1 or type 2 diabetes
Introduction
The aim of this study was to determine the acceptability and psychometric properties of the Hypo-METRICS (Hypoglycemia MEasurement, ThResholds and ImpaCtS)...
Uffe Søholm, Melanie Broadley, Natalie Zaremba, Patrick Divilly, Giesje Nefs, Jill Carlton, Julia K Mader, Petra Martina Baumann, Mikel Gomes, Gilberte Martine-Edith, Daniel J Pollard, Dajana Rath, Simon Heller, Ulrik Pedersen-Bjergaard, Rory J McCrimmon, Eric Renard, Mark Evans, Bastiaan de Galan, Thomas Forkmann, Stephanie A Amiel, Christel Hendrieckx, Jane Speight, Pratik Choudhary, Frans Pouwer
Mar 17, 2023
Motaain Boundaries
Alfridus Saverius Daniael DARI, Ananias Riyoan Philip JACOB, Frans W. MUSKANAN, Yeftha Y. SABAAT
Jan 31, 2023
The border issue has always been a problem that continues to be debated by every country. One of the issues that are important but rarely highlighted is social issues that involve relations and interactions between people in...
Published by: Indonesia Strategic Sustainability
The new Primary Care and Risk Factor Management (PCRFM) nucleus of the European Association of Preventive Cardiology
Monika Hollander, Christi Deaton, Irene Gibson, Donata Kurpas, Frans Rutten, Henner Hanssen, Maria Antonopoulou, Paul Dendale, Diederick E Grobbee, all PCRFM nucleus members
Sep 11, 2020
Author response: Dementia risk in renal dysfunction
Kay Deckers, Ileana Camerino, Martin PJ van Boxtel, Frans RJ Verhey, Kate Irving, Carol Brayne, Miia Kivipelto, John M Starr, Kristine Yaffe, Peter W de Leeuw, Sebastian Köhler
Mar 26, 2018
The new guideline by the American Academy of
Neurology (AAN) and the American Epilepsy Society
(AES) on sudden unexpected death in epilepsy
(SUDEP) is a landmark.1 The communication between
medical professionals and patients...
Prolongation of allograft survival by passenger donor regulatory T cells.
Ines G Harper, Olivera Gjorgjimajkoska, Jacqueline HY Siu, Jasvir Parmar, Arend Mulder, Frans HJ Claas, Sarah A Hosgood, Michael L Nicholson, Reza Motallebzadeh, Gavin J Pettigrew
Jan 04, 2019
T cell biology basic (laboratory) research/science cellular biology immune regulation immunobiology lymphocyte biology organ transplantation in general tolerance: experimental tolerance: mechanisms translational research/science Adoptive Transfer Allografts Animals Cell Lineage Graft Rejection Graft Survival Heart Transplantation Humans Immune System Immunity Humoral Isoantibodies Kidney Transplantation Lung Transplantation Mice Organ Preservation Perfusion T-Lymphocytes Regulatory Tissue Donors Transplantation Homologous Treatment Outcome
Recombinant human monoclonal HLA antibodies of different IgG subclasses recognising the same epitope
Cynthia SM Kramer, Marry EI Franke-van Dijk, Ashley J Priddey, Tamás Pongrácz, Elena Gnudi, Helena Car, Gonca E Karahan, Els van Beelen, Chalana CC Zilvold-van den Oever, Hendrik J Rademaker, Noortje de Haan, Manfred Wuhrer, Vasilis Kosmoliaptsis, Paul WHI Parren, Arend Mulder, Dave L Roelen, Frans HJ Claas, Sebastiaan Heidt
Oct 29, 2019
In the field of transplantation, the humoural immune response against mismatched HLA antigens of the donor is associated with inferior graft survival, but not in every patient. Donor-specific HLA antibodies (DSA) of different...
The need for widely available genomic testing in rare eye diseases
Graeme C Black, Panagiotis Sergouniotis, Andrea Sodi, Bart P Leroy, Caroline Van Cauwenbergh, Petra Liskova, Karen Grønskov, Artur Klett, Susanne Kohl, Gita Taurina, Marius Sukys, Lonneke Haer-Wigman, Katarzyna Nowomiejska, João Pedro Marques, Dorothée Leroux, Frans PM Cremers, Elfride De Baere, Hélène Dollfus, ERN-EYE study group
May 17, 2021
BACKGROUND: Rare Eye Diseases (RED) are the leading cause of visual impairment and blindness for children and young adults in Europe. This heterogeneous group of conditions includes over 900 disorders ranging from relatively...
International consensus on lung function testing during the COVID-19 pandemic and beyond.
Aisling McGowan, Pierantonio Laveneziana, Sam Bayat, Nicole Beydon, PW Boros, Felip Burgos, Matjaž Fležar, Monika Franczuk, Maria-Alejandra Galarza, Adrian H Kendrick, Enrico Lombardi, Jellien Makonga-Braaksma, Meredith C McCormack, Laurent Plantier, Sanja Stanojevic, Irene Steenbruggen, Bruce Thompson, Allan L Coates, Jack Wanger, Donald W Cockcroft, Bruce Culver, Karl Sylvester, Frans De Jongh
Apr 09, 2022
Coronavirus disease 2019 (COVID-19) has negatively affected the delivery of respiratory diagnostic services across the world due to the potential risk of disease transmission during lung function testing. Community prevalence...
Support systems to guide clinical decision-making in precision oncology
David Tamborero, Rodrigo Dienstmann, Maan Haj Rachid, Jorrit Boekel, Richard Baird, Irene Braña, Luigi De Petris, Jeffrey Yachnin, Christophe Massard, Frans L Opdam, Richard Schlenk, Claudio Vernieri, Elena Garralda, Michele Masucci, Xenia Villalobos, Elena Chavarria, Cancer Core Europe consortium, Fabien Calvo, Stefan Fröhling, Alexander Eggermont, Giovanni Apolone, Emile E Voest, Carlos Caldas, Josep Tabernero, Ingemar Ernberg, Jordi Rodon, Janne Lehtiö
Jul 08, 2020
To the editor: the optimal management of cancer patients is increasingly dependent on individualized treatments guided by tumor sequencing data. As comprehensive genomic tests become routine in many disease settings and academic...
Improve in-depth immunological risk assessment to optimize genetic-compatibility and clinical outcomes in child and adolescent recipients of parental donor kidney transplants
Wai H Lim, Brigitte Adams, Stephen Alexander, Antonia HM Bouts, Frans Claas, Michael Collins, Elisabeth Cornelissen, Heather Dunckley, Huib de Jong, Lloyd D'Orsogna, Anna Francis, Sebastiaan Heidt, Jean Herman, Rhonda Holdsworth, Joshua Kausman, Rabia Khalid, Jon Jin Kim, Siah Kim, Noël Knops, Vasilis Kosmoliaptsis, Cynthia Kramer, Dirk Kuypers, Nicholas Larkins, Suetonia C Palmer, Chanel Prestidge, Agnieszka Prytula, Ankit Sharma, Meena Shingde, Anne Taverniti, Armando Teixeira-Pinto, Peter Trnka, Francis Willis, Daniel Wong, Germaine Wong
Jan 05, 2022
BACKGROUND: Parental donor kidney transplantation is the most common treatment option for children and adolescents with kidney failure. Emerging data from observational studies have reported improved short- and medium-term...
Improve in-depth immunological risk assessment to optimize genetic-compatibility and clinical outcomes in child and adolescent recipients of parental donor kidney transplants
Wai H Lim, Brigitte Adams, Stephen Alexander, Antonia HM Bouts, Frans Claas, Michael Collins, Elisabeth Cornelissen, Heather Dunckley, Huib de Jong, Lloyd D'Orsogna, Anna Francis, Sebastiaan Heidt, Jean Herman, Rhonda Holdsworth, Joshua Kausman, Rabia Khalid, Jon Jin Kim, Siah Kim, Noël Knops, Vasilis Kosmoliaptsis, Cynthia Kramer, Dirk Kuypers, Nicholas Larkins, Suetonia C Palmer, Chanel Prestidge, Agnieszka Prytula, Ankit Sharma, Meena Shingde, Anne Taverniti, Armando Teixeira-Pinto, Peter Trnka, Francis Willis, Daniel Wong, Germaine Wong
Jan 28, 2022
BACKGROUND: Parental donor kidney transplantation is the most common treatment option for children and adolescents with kidney failure. Emerging data from observational studies have reported improved short- and medium-term...
The Molecular Tumor Board Portal supports clinical decisions and automated reporting for precision oncology.
David Tamborero, Rodrigo Dienstmann, Maan Haj Rachid, Jorrit Boekel, Adria Lopez-Fernandez, Markus Jonsson, Ali Razzak, Irene Braña, Luigi De Petris, Jeffrey Yachnin, Richard D Baird, Yohann Loriot, Christophe Massard, Patricia Martin-Romano, Frans Opdam, Richard F Schlenk, Claudio Vernieri, Michele Masucci, Xenia Villalobos, Elena Chavarria, Cancer Core Europe consortium, Judith Balmaña, Giovanni Apolone, Carlos Caldas, Jonas Bergh, Ingemar Ernberg, Stefan Fröhling, Elena Garralda, Claes Karlsson, Josep Tabernero, Emile Voest, Jordi Rodon, Janne Lehtiö
Feb 28, 2022
There is a growing need for systems that efficiently support the work of medical teams at the precision-oncology point of care. Here, we present the implementation of the Molecular Tumor Board Portal (MTBP), an academic clinical...
Diagnostic accuracy of pulmonary host inflammatory mediators in the exclusion of ventilator-acquired pneumonia.
Thomas P Hellyer, Andrew Conway Morris, Daniel F McAuley, Timothy S Walsh, Niall H Anderson, Suveer Singh, Paul Dark, Alistair I Roy, Simon V Baudouin, Stephen E Wright, Gavin D Perkins, Kallirroi Kefala, Melinda Jeffels, Ronan McMullan, Cecilia M O'Kane, Craig Spencer, Shondipon Laha, Nicole Robin, Savita Gossain, Kate Gould, Marie-Hélène Ruchaud-Sparagano, Jonathan Scott, Emma M Browne, James G MacFarlane, Sarah Wiscombe, John D Widdrington, Ian Dimmick, Ian F Laurenson, Frans Nauwelaers, A John Simpson
Jun 26, 2020
BACKGROUND: Excessive use of empirical antibiotics is common in critically ill patients. Rapid biomarker-based exclusion of infection may improve antibiotic stewardship in ventilator-acquired pneumonia (VAP). However, successful...
European consensus for the diagnosis of MCI and mild dementia
Cristina Festari, Federico Massa, Matteo Cotta Ramusino, Federica Gandolfo, Valentina Nicolosi, Stefania Orini, Dag Aarsland, Federica Agosta, Claudio Babiloni, Mercè Boada, Barbara Borroni, Stefano Cappa, Bruno Dubois, Kristian S Frederiksen, Lutz Froelich, Valentina Garibotto, Jean Georges, Alexander Haliassos, Oskar Hansson, Frank Jessen, Anita Kamondi, Roy PC Kessels, Silvia Morbelli, John T O'Brien, Markus Otto, Armand Perret-Liaudet, Francesca B Pizzini, Craig W Ritchie, Philip Scheltens, Mathieu Vandenbulcke, Ritva Vanninen, Frans Verhey, Meike W Vernooij, Tarek Yousry, Wiesje M van der Flier, Flavio Nobili, Giovanni B Frisoni
Oct 10, 2022
INTRODUCTION: Etiological diagnosis of neurocognitive disorders of middle-old age relies on biomarkers, although evidence for their rational use is incomplete. A European task force is defining a diagnostic workflow where expert...
Correction
Logan C Walker, Louise Marquart, John F Pearson, George AR Wiggins, Tracy A O'Mara, Michael T Parsons, BCFR, Daniel Barrowdale, Lesley McGuffog, Joe Dennis, Javier Benitez, Thomas P Slavin, Paolo Radice, Debra Frost, EMBRACE, Andrew K Godwin, Alfons Meindl, Rita Katharina Schmutzler, GEMO Study Collaborators, Claudine Isaacs, Beth N Peshkin, Trinidad Caldes, Frans BL Hogervorst, HEBON, Conxi Lazaro, Anna Jakubowska, Marco Montagna, kConFab Investigators, Xiaoqing Chen, Kenneth Offit, Peter J Hulick, Irene L Andrulis, Annika Lindblom, Robert L Nussbaum, Katherine L Nathanson, Georgia Chenevix-Trench, Antonis C Antoniou, Fergus J Couch, Amanda B Spurdle
Oct 03, 2018
This Article was originally published under a CC BY-NC-SA 4.0 license, but has now been made available under a CC BY 4.0 license. The PDF and HTML versions of the Article have been modified accordingly.
Allometric equations for integrating remote sensing imagery into forest monitoring programmes.
Tommaso Jucker, John Caspersen, Jérôme Chave, Cécile Antin, Nicolas Barbier, Frans Bongers, Michele Dalponte, Karin Y van Ewijk, David I Forrester, Matthias Haeni, Steven I Higgins, Robert J Holdaway, Yoshiko Iida, Craig Lorimer, Peter L Marshall, Stéphane Momo, Glenn R Moncrieff, Pierre Ploton, Lourens Poorter, Kassim Abd Rahman, Michael Schlund, Bonaventure Sonké, Frank J Sterck, Anna T Trugman, Vladimir A Usoltsev, Mark C Vanderwel, Peter Waldner, Beatrice MM Wedeux, Christian Wirth, Hannsjörg Wöll, Murray Woods, Wenhua Xiang, Niklaus E Zimmermann, David A Coomes
Jul 06, 2016
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.
Marisa W Friederich, Sharita Timal, Christopher A Powell, Cristina Dallabona, Alina Kurolap, Sara Palacios-Zambrano, Drago Bratkovic, Terry GJ Derks, David Bick, Katelijne Bouman, Kathryn C Chatfield, Nadine Damouny-Naoum, Megan K Dishop, Tzipora C Falik-Zaccai, Fuad Fares, Ayalla Fedida, Ileana Ferrero, Renata C Gallagher, Rafael Garesse, Micol Gilberti, Cristina González, Katherine Gowan, Clair Habib, Rebecca K Halligan, Limor Kalfon, Kaz Knight, Dirk Lefeber, Laura Mamblona, Hanna Mandel, Adi Mory, John Ottoson, Tamar Paperna, Ger JM Pruijn, Pedro F Rebelo-Guiomar, Ann Saada, Bruno Sainz, Hayley Salvemini, Mirthe H Schoots, Jan A Smeitink, Maciej J Szukszto, Hendrik J Ter Horst, Frans van den Brandt, Francjan J van Spronsen, Joris A Veltman, Eric Wartchow, Liesbeth T Wintjes, Yaniv Zohar, Miguel A Fernández-Moreno, Hagit N Baris, Claudia Donnini, Michal Minczuk, Richard J Rodenburg, Johan LK Van Hove
Dec 07, 2018
Mitochondrial protein synthesis requires charging mt-tRNAs with their cognate amino acids by mitochondrial aminoacyl-tRNA synthetases, with the exception of glutaminyl mt-tRNA (mt-tRNAGln). mt-tRNAGln is indirectly charged by a...
Amino Acid Sequence Cardiomyopathies Female FIBROBLASTS Humans Infant Infant Newborn Lentivirus Male Mitochondrial Diseases Models Molecular Mutation Myocardium Nitrogenous Group Transferases Oxidative Phosphorylation Pedigree Protein Biosynthesis Protein Subunits RNA Transfer Saccharomyces cerevisiae
Genetic modifiers of CHEK2*1100delC-associated breast cancer risk.
Taru A Muranen, Dario Greco, Carl Blomqvist, Kristiina Aittomäki, Sofia Khan, Frans Hogervorst, Senno Verhoef, Paul DP Pharoah, Alison M Dunning, Mitul Shah, Robert Luben, Stig E Bojesen, Børge G Nordestgaard, Minouk Schoemaker, Anthony Swerdlow, Montserrat García-Closas, Jonine Figueroa, Thilo Dörk, Natalia V Bogdanova, Per Hall, Jingmei Li, Elza Khusnutdinova, Marina Bermisheva, Vessela Kristensen, Anne-Lise Borresen-Dale, NBCS Investigators, Julian Peto, Isabel Dos Santos Silva, Fergus J Couch, Janet E Olson, Peter Hillemans, Tjoung-Won Park-Simon, Hiltrud Brauch, Ute Hamann, Barbara Burwinkel, Frederik Marme, Alfons Meindl, Rita K Schmutzler, Angela Cox, Simon S Cross, Elinor J Sawyer, Ian Tomlinson, Diether Lambrechts, Matthieu Moisse, Annika Lindblom, Sara Margolin, Antoinette Hollestelle, John WM Martens, Peter A Fasching, Matthias W Beckmann, Irene L Andrulis, Julia A Knight, kConFab/AOCS Investigators, Hoda Anton-Culver, Argyrios Ziogas, Graham G Giles, Roger L Milne, Hermann Brenner, Volker Arndt, Arto Mannermaa, Veli-Matti Kosma, Jenny Chang-Claude, Anja Rudolph, Peter Devilee, Caroline Seynaeve, John L Hopper, Melissa C Southey, Esther M John, Alice S Whittemore, Manjeet K Bolla, Qin Wang, Kyriaki Michailidou, Joe Dennis, Douglas F Easton, Marjanka K Schmidt, Heli Nevanlinna
Sep 21, 2016
Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers.
Logan C Walker, Zachary S Fredericksen, Xianshu Wang, Robert Tarrell, Vernon S Pankratz, Noralane M Lindor, Jonathan Beesley, Sue Healey, Xiaoqing Chen, kConFab, Dominique Stoppa-Lyonnet, Carole Tirapo, Sophie Giraud, Sylvie Mazoyer, Danièle Muller, Jean-Pierre Fricker, Capucine Delnatte, GEMO Study Collaborators, Rita K Schmutzler, Barbara Wappenschmidt, Christoph Engel, Ines Schönbuchner, Helmut Deissler, Alfons Meindl, Frans B Hogervorst, Martijn Verheus, Maartje J Hooning, Ans Mw van den Ouweland, Marcel R Nelen, Margreet Gem Ausems, Cora M Aalfs, Christi J van Asperen, Peter Devilee, Monique M Gerrits, Quinten Waisfisz, HEBON, Csilla I Szabo, ModSQuaD, Douglas F Easton, Susan Peock, Margaret Cook, Clare T Oliver, Debra Frost, Patricia Harrington, D Gareth Evans, Fiona Lalloo, Ros Eeles, Louise Izatt, Carol Chu, Rosemarie Davidson, Diana Eccles, Kai-Ren Ong, Jackie Cook, EMBRACE, Tim Rebbeck, Katherine L Nathanson, Susan M Domchek, Christian F Singer, Daphne Gschwantler-Kaulich, Anne-Catharina Dressler, Georg Pfeiler, Andrew K Godwin, Tuomas Heikkinen, Heli Nevanlinna, Bjarni A Agnarsson, Maria Adelaide Caligo, Håkan Olsson, Ulf Kristoffersson, Annelie Liljegren, Brita Arver, Per Karlsson, Beatrice Melin, SWE-BRCA, Olga M Sinilnikova, Lesley McGuffog, Antonis C Antoniou, Georgia Chenevix-Trench, Amanda B Spurdle, Fergus J Couch
Jun 17, 2011
Adult Aged Aged 80 and over Breast Neoplasms Female Gene Expression Genes BRCA2 Genetic Predisposition to Disease Genome-Wide Association Study Humans Linkage Disequilibrium Middle Aged Mutation Polymorphism Single Nucleotide Risk Factors Signal Transduction Smad3 Protein Transforming Growth Factor beta
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Martine Dumont, Nana Weber-Lassalle, Charles Joly-Beauparlant, Corinna Ernst, Arnaud Droit, Bing-Jian Feng, Stéphane Dubois, Annie-Claude Collin-Deschesnes, Penny Soucy, Maxime Vallée, Frédéric Fournier, Audrey Lemaçon, Muriel A Adank, Jamie Allen, Janine Altmüller, Norbert Arnold, Margreet Gem Ausems, Riccardo Berutti, Manjeet K Bolla, Shelley Bull, Sara Carvalho, Sten Cornelissen, Michael R Dufault, Alison M Dunning, Christoph Engel, Andrea Gehrig, Willemina RR Geurts-Giele, Christian Gieger, Jessica Green, Karl Hackmann, Mohamed Helmy, Julia Hentschel, Frans BL Hogervorst, Antoinette Hollestelle, Maartje J Hooning, Judit Horváth, M Arfan Ikram, Silke Kaulfuß, Renske Keeman, Da Kuang, Craig Luccarini, Wolfgang Maier, John WM Martens, Dieter Niederacher, Peter Nürnberg, Claus-Eric Ott, Annette Peters, Paul DP Pharoah, Alfredo Ramirez, Juliane Ramser, Steffi Riedel-Heller, Gunnar Schmidt, Mitul Shah, Martin Scherer, Antje Stäbler, Tim M Strom, Christian Sutter, Holger Thiele, Christi J van Asperen, Lizet van der Kolk, Rob B van der Luijt, Alexander E Volk, Michael Wagner, Quinten Waisfisz, Qin Wang, Shan Wang-Gohrke, Bernhard HF Weber, Genome Of The Netherlands Project, Ghs Study Group, Peter Devilee, Sean Tavtigian, Gary D Bader, Alfons Meindl, David E Goldgar, Irene L Andrulis, Rita K Schmutzler, Douglas F Easton, Marjanka K Schmidt, Eric Hahnen, Jacques Simard
Sep 02, 2022
Rare variants in at least 10 genes, including BRCA1, BRCA2, PALB2, ATM, and CHEK2, are associated with increased risk of breast cancer; however, these variants, in combination with common variants identified through genome-wide...
The BRCA2 c.68-7T > A variant is not pathogenic
Mara Colombo, Irene Lòpez-Perolio, Huong D Meeks, Laura Caleca, Michael T Parsons, Hongyan Li, Giovanna De Vecchi, Emma Tudini, Claudia Foglia, Patrizia Mondini, Siranoush Manoukian, Raquel Behar, Encarna B Gómez Garcia, Alfons Meindl, Marco Montagna, Dieter Niederacher, Ane Y Schmidt, Liliana Varesco, Barbara Wappenschmidt, Manjeet K Bolla, Joe Dennis, Kyriaki Michailidou, Qin Wang, Kristiina Aittomäki, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Matthias W Beckmann, Alicia Beeghly-Fadel, Javier Benitez, Bram Boeckx, Natalia V Bogdanova, Stig E Bojesen, Bernardo Bonanni, Hiltrud Brauch, Hermann Brenner, Barbara Burwinkel, Jenny Chang-Claude, Don M Conroy, Fergus J Couch, Angela Cox, Simon S Cross, Kamila Czene, Peter Devilee, Thilo Dörk, Mikael Eriksson, Peter A Fasching, Jonine Figueroa, Olivia Fletcher, Henrik Flyger, Marike Gabrielson, Montserrat García-Closas, Graham G Giles, Anna González-Neira, Pascal Guénel, Christopher A Haiman, Per Hall, Ute Hamann, Mikael Hartman, Jan Hauke, Antoinette Hollestelle, John L Hopper, Anna Jakubowska, Audrey Jung, Veli-Matti Kosma, Diether Lambrechts, Loid Le Marchand, Annika Lindblom, Jan Lubinski, Arto Mannermaa, Sara Margolin, Hui Miao, Roger L Milne, Susan L Neuhausen, Heli Nevanlinna, Janet E Olson, Paolo Peterlongo, Julian Peto, Katri Pylkäs, Elinor J Sawyer, Marjanka K Schmidt, Rita K Schmutzler, Andreas Schneeweiss, Minouk J Schoemaker, Mee Hoong See, Melissa C Southey, Anthony Swerdlow, Soo H Teo, Amanda E Toland, Ian Tomlinson, Thérèse Truong, Christi J van Asperen, Ans Mw van den Ouweland, Lizet E van der Kolk, Robert Winqvist, Drakoulis Yannoukakos, Wei Zheng, kConFab/AOCS Investigators, Alison M Dunning, Douglas F Easton, Alex Henderson, Frans BL Hogervorst, Louise Izatt, Kenneth Offitt, Lucy E Side, Elizabeth J van Rensburg, Study Embrace, Study Hebon, Lesley McGuffog, Antonis C Antoniou, Georgia Chenevix-Trench, Amanda B Spurdle, David E Goldgar, Miguel de la Hoya, Paolo Radice
May 03, 2018
Although the spliceogenic nature of the BRCA2 c.68-7T > A variant has been demonstrated, its association with cancer risk remains controversial. In this study, we accurately quantified by real-time PCR and digital PCR (dPCR)...
Breast cancer risks associated with missense variants in breast cancer susceptibility genes
Leila Dorling, Sara Carvalho, Jamie Allen, Michael T Parsons, Cristina Fortuno, Anna González-Neira, Stephan M Heijl, Muriel A Adank, Thomas U Ahearn, Irene L Andrulis, Päivi Auvinen, Heiko Becher, Matthias W Beckmann, Sabine Behrens, Marina Bermisheva, Natalia V Bogdanova, Stig E Bojesen, Manjeet K Bolla, Michael Bremer, Ignacio Briceno, Nicola J Camp, Archie Campbell, Jose E Castelao, Jenny Chang-Claude, Stephen J Chanock, Georgia Chenevix-Trench, J Margriet Collée, Kamila Czene, Joe Dennis, Thilo Dörk, Mikael Eriksson, D Gareth Evans, Peter A Fasching, Jonine Figueroa, Henrik Flyger, Marike Gabrielson, Manuela Gago-Dominguez, Montserrat García-Closas, Graham G Giles, Gord Glendon, Pascal Guénel, Melanie Gündert, Andreas Hadjisavvas, Eric Hahnen, Per Hall, Ute Hamann, Elaine F Harkness, Mikael Hartman, Frans BL Hogervorst, Antoinette Hollestelle, Reiner Hoppe, Anthony Howell, Anna Jakubowska, Audrey Jung, Elza Khusnutdinova, Sung-Won Kim, Yon-Dschun Ko, Vessela N Kristensen, Inge MM Lakeman, Jingmei Li, Annika Lindblom, Maria A Loizidou, Artitaya Lophatananon, Jan Lubiński, Craig Luccarini, Michael J Madsen, Arto Mannermaa, Mehdi Manoochehri, Sara Margolin, Dimitrios Mavroudis, Roger L Milne, Nur Aishah Mohd Taib, Kenneth Muir, Heli Nevanlinna, William G Newman, Jan C Oosterwijk, Sue K Park, Paolo Peterlongo, Paolo Radice, Emmanouil Saloustros, Elinor J Sawyer, Rita K Schmutzler, Mitul Shah, Xueling Sim, Melissa C Southey, Harald Surowy, Maija Suvanto, Ian Tomlinson, Diana Torres, Thérèse Truong, Christi J van Asperen, Regina Waltes, Qin Wang, Xiaohong R Yang, Paul DP Pharoah, Marjanka K Schmidt, Javier Benitez, Bas Vroling, Alison M Dunning, Soo Hwang Teo, Anders Kvist, Miguel de la Hoya, Peter Devilee, Amanda B Spurdle, Maaike PG Vreeswijk, Douglas F Easton
May 18, 2022
Abstract: Background: Protein truncating variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2 are associated with increased breast cancer risk, but risks associated with missense variants in these genes are uncertain. Methods: We...
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
Daniel R. Barnes, Matti A. Rookus, Lesley McGuffog, Goska Leslie, Thea M. Mooij, Joe Dennis, Nasim Mavaddat, Julian Adlard, Munaza Ahmed, Kristiina Aittomäki, Nadine Andrieu, Irene L. Andrulis, Norbert Arnold, Banu K. Arun, Jacopo Azzollini, Judith Balmaña, Rosa B. Barkardottir, Daniel Barrowdale, Javier Benitez, Pascaline Berthet, Katarzyna Białkowska, Amie M. Blanco, Marinus J. Blok, Bernardo Bonanni, Susanne E. Boonen, Åke Borg, Aniko Bozsik, Angela R. Bradbury, Paul Brennan, Carole Brewer, Joan Brunet, Saundra S. Buys, Trinidad Caldés, Maria A. Caligo, Ian Campbell, Lise Lotte Christensen, Wendy K. Chung, Kathleen B. M. Claes, Chrystelle Colas, Marie-Agnès Collonge-Rame, Jackie Cook, Mary B. Daly, Rosemarie Davidson, Miguel de la Hoya, Robin de Putter, Capucine Delnatte, Peter Devilee, Orland Diez, Yuan Chun Ding, Susan M. Domchek, Cecilia M. Dorfling, Martine Dumont, Ros Eeles, Bent Ejlertsen, Christoph Engel, D. Gareth Evans, Laurence Faivre, Lenka Foretova, Florentia Fostira, Michael Friedlander, Eitan Friedman, Debra Frost, Patricia A. Ganz, Judy Garber, Andrea Gehrig, Anne-Marie Gerdes, Paul Gesta, Sophie Giraud, Gord Glendon, Andrew K. Godwin, David E. Goldgar, Anna González-Neira, Mark H. Greene, Daphne Gschwantler-Kaulich, Eric Hahnen, Ute Hamann, Helen Hanson, Julia Hentschel, Frans B. L. Hogervorst, Maartje J. Hooning, Judit Horvath, Chunling Hu, Peter J. Hulick, Evgeny N. Imyanitov, Claudine Isaacs, Louise Izatt, Angel Izquierdo, Anna Jakubowska, Paul A. James, Ramunas Janavicius, Esther M. John, Vijai Joseph, Beth Y. Karlan, Karin Kast, Marco Koudijs, Torben A. Kruse, Ava Kwong, Yael Laitman, Christine Lasset, Conxi Lazaro, Jenny Lester, Fabienne Lesueur, Annelie Liljegren, Jennifer T. Loud, Jan Lubiński, Phuong L. Mai, Siranoush Manoukian, Véronique Mari, Noura Mebirouk, Hanne E. J. Meijers-Heijboer, Alfons Meindl, Arjen R. Mensenkamp, Austin Miller, Marco Montagna, Emmanuelle Mouret-Fourme, Semanti Mukherjee, Anna Marie Mulligan, Katherine L. Nathanson, Susan L. Neuhausen, Heli Nevanlinna, Dieter Niederacher, Finn Cilius Nielsen, Liene Nikitina-Zake, Catherine Noguès, Edith Olah, Olufunmilayo I. Olopade, Kai-Ren Ong, Aoife O’Shaughnessy-Kirwan, Ana Osorio, Claus-Eric Ott, Laura Papi, Sue K. Park, Michael T. Parsons, Inge Sokilde Pedersen, Bernard Peissel, Ana Peixoto, Paolo Peterlongo, Georg Pfeiler, Kelly-Anne Phillips, Karolina Prajzendanc, Miquel Angel Pujana, Paolo Radice, Juliane Ramser, Susan J. Ramus, Johanna Rantala, Gad Rennert, Harvey A. Risch, Mark Robson, Karina Rønlund, Ritu Salani, Hélène Schuster, Leigha Senter, Payal D. Shah, Priyanka Sharma, Lucy E. Side, Christian F. Singer, Thomas P. Slavin, Penny Soucy, Melissa C. Southey, Amanda B. Spurdle, Doris Steinemann, Zoe Steinsnyder, Dominique Stoppa-Lyonnet, Christian Sutter, Yen Yen Tan, Manuel R. Teixeira, Soo Hwang Teo, Darcy L. Thull, Marc Tischkowitz, Silvia Tognazzo, Amanda E. Toland, Alison H. Trainer, Nadine Tung, Klaartje van Engelen, Elizabeth J. van Rensburg, Ana Vega, Jeroen Vierstraete, Gabriel Wagner, Lisa Walker, Shan Wang-Gohrke, Barbara Wappenschmidt, Jeffrey N. Weitzel, Siddhartha Yadav, Xin Yang, Drakoulis Yannoukakos, Dario Zimbalatti, Kenneth Offit, Mads Thomassen, Fergus J. Couch, Rita K. Schmutzler, Jacques Simard, Douglas F. Easton, Georgia Chenevix-Trench, Antonis C. Antoniou, Antonis Antoniou, Douglas Easton, Lucy Side, Amanda Spurdle, Marinus Blok, Frans Hogervorst, Maartje Hooning, Arjen Mensenkamp, Hanne Meijers-Heijboer, Matti Rookus, Klaartje van Engelen
Sep 29, 2020
Abstract: Purpose: We assessed the associations between population-based polygenic risk scores (PRS) for breast (BC) or epithelial ovarian cancer (EOC) with cancer risks for BRCA1 and BRCA2 pathogenic variant carriers. Methods...
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