keyword
https://read.qxmd.com/read/34782936/mcm3-is-a-novel-proliferation-marker-associated-with-longer-survival-for-patients-with-tubo-ovarian-high-grade-serous-carcinoma
#21
JOURNAL ARTICLE
Eun Young Kang, Joshua Millstein, Gordana Popovic, Nicola S Meagher, Adelyn Bolithon, Aline Talhouk, Derek S Chiu, Michael S Anglesio, Betty Leung, Katrina Tang, Neil Lambie, Marina Pavanello, Annalyn Da-Anoy, Diether Lambrechts, Liselore Loverix, Siel Olbrecht, Christiani Bisinotto, Jesus Garcia-Donas, Sergio Ruiz-Llorente, Monica Yagüe-Fernandez, Robert P Edwards, Esther Elishaev, Alexander Olawaiye, Sarah Taylor, Beyhan Ataseven, Andreas du Bois, Philipp Harter, Jenny Lester, Claus K Høgdall, Sebastian M Armasu, Yajue Huang, Robert A Vierkant, Chen Wang, Stacey J Winham, Sabine Heublein, Felix K F Kommoss, Daniel W Cramer, Naoko Sasamoto, Lilian van-Wagensveld, Maria Lycke, Constantina Mateoiu, Janine Joseph, Malcolm C Pike, Kunle Odunsi, Chiu-Chen Tseng, Celeste L Pearce, Sanela Bilic, Thomas P Conrads, Arndt Hartmann, Alexander Hein, Michael E Jones, Yee Leung, Matthias W Beckmann, Matthias Ruebner, Minouk J Schoemaker, Kathryn L Terry, Mona A El-Bahrawy, Penny Coulson, John L Etter, Katherine LaVigne-Mager, Juergen Andress, Marcel Grube, Anna Fischer, Nina Neudeck, Greg Robertson, Rhonda Farrell, Ellen Barlow, Carmel Quinn, Anusha Hettiaratchi, Yovanni Casablanca, Ramona Erber, Colin J R Stewart, Adeline Tan, Yu Yu, Jessica Boros, Alison H Brand, Paul R Harnett, Catherine J Kennedy, Nikilyn Nevins, Terry Morgan, Peter A Fasching, Ignace Vergote, Anthony J Swerdlow, Francisco J Candido Dos Reis, G Larry Maxwell, Susan L Neuhausen, Arantzazu Barquin-Garcia, Francesmary Modugno, Kirsten B Moysich, Philip J Crowe, Akira Hirasawa, Florian Heitz, Beth Y Karlan, Ellen L Goode, Peter Sinn, Hugo M Horlings, Estrid Høgdall, Karin Sundfeldt, Stefan Kommoss, Annette Staebler, Anna H Wu, Paul A Cohen, Anna DeFazio, Cheng-Han Lee, Helen Steed, Nhu D Le, Simon A Gayther, Kate Lawrenson, Paul D P Pharoah, Gottfried Konecny, Linda S Cook, Susan J Ramus, Linda E Kelemen, Martin Köbel
Tubo-ovarian high-grade serous carcinomas (HGSC) are highly proliferative neoplasms that generally respond well to platinum/taxane chemotherapy. We recently identified minichromosome maintenance complex component 3 (MCM3), which is involved in the initiation of DNA replication and proliferation, as a favorable prognostic marker in HGSC. Our objective was to further validate whether MCM3 mRNA expression and possibly MCM3 protein levels are associated with survival in patients with HGSC. MCM3 mRNA expression was measured using NanoString expression profiling on formalin-fixed and paraffin-embedded tissue (N = 2355 HGSC) and MCM3 protein expression was assessed by immunohistochemistry (N = 522 HGSC) and compared with Ki-67...
November 15, 2021: Virchows Archiv: An International Journal of Pathology
https://read.qxmd.com/read/34767985/clinical-performance-of-implantable-cardioverter-defibrillator-lead-monitoring-diagnostics
#22
JOURNAL ARTICLE
Jeanne E Poole, Charles D Swerdlow, Khaldoun G Tarakji, Suneet Mittal, Kenneth A Ellenbogen, Arnold J Greenspon, Charles Kennergren, Berit T Philbert, JoEllyn Moore, R Chris Jones, Robert D Schaller, Riple Hansalia, Timothy Simmers, Attila Mihalcz, Becky DeBus, Daniel R Lexcen, Bruce Gunderson, Bruce L Wilkoff
BACKGROUND: Implantable cardioverter-defibrillator (ICD) lead monitoring diagnostic alerts facilitate the diagnosis of structural lead failure. OBJECTIVE: The purpose of this study was to prospectively study the performance of Medtronic ICD lead monitoring alerts. METHODS: A prespecified ancillary substudy, World-Wide Randomized Antibiotic Envelope Infection Prevention Trial, was conducted in patients with an ICD with all available alerts enabled...
March 2022: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://read.qxmd.com/read/34480422/the-genomics-of-heart-failure-design-and-rationale-of-the-hermes-consortium
#23
JOURNAL ARTICLE
R Thomas Lumbers, Sonia Shah, Honghuang Lin, Tomasz Czuba, Albert Henry, Daniel I Swerdlow, Anders Mälarstig, Charlotte Andersson, Niek Verweij, Michael V Holmes, Johan Ärnlöv, Per Svensson, Harry Hemingway, Neneh Sallah, Peter Almgren, Krishna G Aragam, Geraldine Asselin, Joshua D Backman, Mary L Biggs, Heather L Bloom, Eric Boersma, Jeffrey Brandimarto, Michael R Brown, Hans-Peter Brunner-La Rocca, David J Carey, Mark D Chaffin, Daniel I Chasman, Olympe Chazara, Xing Chen, Xu Chen, Jonathan H Chung, William Chutkow, John G F Cleland, James P Cook, Simon de Denus, Abbas Dehghan, Graciela E Delgado, Spiros Denaxas, Alexander S Doney, Marcus Dörr, Samuel C Dudley, Gunnar Engström, Tõnu Esko, Ghazaleh Fatemifar, Stephan B Felix, Chris Finan, Ian Ford, Francoise Fougerousse, René Fouodjio, Mohsen Ghanbari, Sahar Ghasemi, Vilmantas Giedraitis, Franco Giulianini, John S Gottdiener, Stefan Gross, Daníel F Guðbjartsson, Hongsheng Gui, Rebecca Gutmann, Christopher M Haggerty, Pim van der Harst, Åsa K Hedman, Anna Helgadottir, Hans Hillege, Craig L Hyde, Jaison Jacob, J Wouter Jukema, Frederick Kamanu, Isabella Kardys, Maryam Kavousi, Kay-Tee Khaw, Marcus E Kleber, Lars Køber, Andrea Koekemoer, Bill Kraus, Karoline Kuchenbaecker, Claudia Langenberg, Lars Lind, Cecilia M Lindgren, Barry London, Luca A Lotta, Ruth C Lovering, Jian'an Luan, Patrik Magnusson, Anubha Mahajan, Douglas Mann, Kenneth B Margulies, Nicholas A Marston, Winfried März, John J V McMurray, Olle Melander, Giorgio Melloni, Ify R Mordi, Michael P Morley, Andrew D Morris, Andrew P Morris, Alanna C Morrison, Michael W Nagle, Christopher P Nelson, Christopher Newton-Cheh, Alexander Niessner, Teemu Niiranen, Christoph Nowak, Michelle L O'Donoghue, Anjali T Owens, Colin N A Palmer, Guillaume Paré, Markus Perola, Louis-Philippe Lemieux Perreault, Eliana Portilla-Fernandez, Bruce M Psaty, Kenneth M Rice, Paul M Ridker, Simon P R Romaine, Carolina Roselli, Jerome I Rotter, Christian T Ruff, Marc S Sabatine, Perttu Salo, Veikko Salomaa, Jessica van Setten, Alaa A Shalaby, Diane T Smelser, Nicholas L Smith, Kari Stefansson, Steen Stender, David J Stott, Garðar Sveinbjörnsson, Mari-Liis Tammesoo, Jean-Claude Tardif, Kent D Taylor, Maris Teder-Laving, Alexander Teumer, Guðmundur Thorgeirsson, Unnur Thorsteinsdottir, Christian Torp-Pedersen, Stella Trompet, Danny Tuckwell, Benoit Tyl, Andre G Uitterlinden, Felix Vaura, Abirami Veluchamy, Peter M Visscher, Uwe Völker, Adriaan A Voors, Xiaosong Wang, Nicholas J Wareham, Peter E Weeke, Raul Weiss, Harvey D White, Kerri L Wiggins, Heming Xing, Jian Yang, Yifan Yang, Laura M Yerges-Armstrong, Bing Yu, Faiez Zannad, Faye Zhao, Jemma B Wilk, Hilma Holm, Naveed Sattar, Steven A Lubitz, David E Lanfear, Svati Shah, Michael E Dunn, Quinn S Wells, Folkert W Asselbergs, Aroon D Hingorani, Marie-Pierre Dubé, Nilesh J Samani, Chim C Lang, Thomas P Cappola, Patrick T Ellinor, Ramachandran S Vasan, J Gustav Smith
AIMS: The HERMES (HEart failure Molecular Epidemiology for Therapeutic targetS) consortium aims to identify the genomic and molecular basis of heart failure. METHODS AND RESULTS: The consortium currently includes 51 studies from 11 countries, including 68 157 heart failure cases and 949 888 controls, with data on heart failure events and prognosis. All studies collected biological samples and performed genome-wide genotyping of common genetic variants. The enrolment of subjects into participating studies ranged from 1948 to the present day, and the median follow-up following heart failure diagnosis ranged from 2 to 116 months...
September 3, 2021: ESC Heart Failure
https://read.qxmd.com/read/34407845/association-of-germline-genetic-variants-with-breast-cancer-specific-survival-in-patient-subgroups-defined-by-clinic-pathological-variables-related-to-tumor-biology-and-type-of-systemic-treatment
#24
JOURNAL ARTICLE
Anna Morra, Maria Escala-Garcia, Jonathan Beesley, Renske Keeman, Sander Canisius, Thomas U Ahearn, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Paul L Auer, Annelie Augustinsson, Laura E Beane Freeman, Heiko Becher, Matthias W Beckmann, Sabine Behrens, Stig E Bojesen, Manjeet K Bolla, Hermann Brenner, Thomas Brüning, Saundra S Buys, Bette Caan, Daniele Campa, Federico Canzian, Jose E Castelao, Jenny Chang-Claude, Stephen J Chanock, Ting-Yuan David Cheng, Christine L Clarke, Sarah V Colonna, Fergus J Couch, Angela Cox, Simon S Cross, Kamila Czene, Mary B Daly, Joe Dennis, Thilo Dörk, Laure Dossus, Alison M Dunning, Miriam Dwek, Diana M Eccles, Arif B Ekici, A Heather Eliassen, Mikael Eriksson, D Gareth Evans, Peter A Fasching, Henrik Flyger, Lin Fritschi, Manuela Gago-Dominguez, José A García-Sáenz, Graham G Giles, Mervi Grip, Pascal Guénel, Melanie Gündert, Eric Hahnen, Christopher A Haiman, Niclas Håkansson, Per Hall, Ute Hamann, Steven N Hart, Jaana M Hartikainen, Arndt Hartmann, Wei He, Maartje J Hooning, Reiner Hoppe, John L Hopper, Anthony Howell, David J Hunter, Agnes Jager, Anna Jakubowska, Wolfgang Janni, Esther M John, Audrey Y Jung, Rudolf Kaaks, Machteld Keupers, Cari M Kitahara, Stella Koutros, Peter Kraft, Vessela N Kristensen, Allison W Kurian, James V Lacey, Diether Lambrechts, Loic Le Marchand, Annika Lindblom, Martha Linet, Robert N Luben, Jan Lubiński, Michael Lush, Arto Mannermaa, Mehdi Manoochehri, Sara Margolin, John W M Martens, Maria Elena Martinez, Dimitrios Mavroudis, Kyriaki Michailidou, Roger L Milne, Anna Marie Mulligan, Taru A Muranen, Heli Nevanlinna, William G Newman, Sune F Nielsen, Børge G Nordestgaard, Andrew F Olshan, Håkan Olsson, Nick Orr, Tjoung-Won Park-Simon, Alpa V Patel, Bernard Peissel, Paolo Peterlongo, Dijana Plaseska-Karanfilska, Karolina Prajzendanc, Ross Prentice, Nadege Presneau, Brigitte Rack, Gad Rennert, Hedy S Rennert, Valerie Rhenius, Atocha Romero, Rebecca Roylance, Matthias Ruebner, Emmanouil Saloustros, Elinor J Sawyer, Rita K Schmutzler, Andreas Schneeweiss, Christopher Scott, Mitul Shah, Snezhana Smichkoska, Melissa C Southey, Jennifer Stone, Harald Surowy, Anthony J Swerdlow, Rulla M Tamimi, William J Tapper, Lauren R Teras, Mary Beth Terry, Rob A E M Tollenaar, Ian Tomlinson, Melissa A Troester, Thérèse Truong, Celine M Vachon, Qin Wang, Amber N Hurson, Robert Winqvist, Alicja Wolk, Argyrios Ziogas, Hiltrud Brauch, Montserrat García-Closas, Paul D P Pharoah, Douglas F Easton, Georgia Chenevix-Trench, Marjanka K Schmidt
BACKGROUND: Given the high heterogeneity among breast tumors, associations between common germline genetic variants and survival that may exist within specific subgroups could go undetected in an unstratified set of breast cancer patients. METHODS: We performed genome-wide association analyses within 15 subgroups of breast cancer patients based on prognostic factors, including hormone receptors, tumor grade, age, and type of systemic treatment. Analyses were based on 91,686 female patients of European ancestry from the Breast Cancer Association Consortium, including 7531 breast cancer-specific deaths over a median follow-up of 8...
August 18, 2021: Breast Cancer Research: BCR
https://read.qxmd.com/read/34349265/genetic-insights-into-biological-mechanisms-governing-human-ovarian-ageing
#25
JOURNAL ARTICLE
Katherine S Ruth, Felix R Day, Jazib Hussain, Ana Martínez-Marchal, Catherine E Aiken, Ajuna Azad, Deborah J Thompson, Lucie Knoblochova, Hironori Abe, Jane L Tarry-Adkins, Javier Martin Gonzalez, Pierre Fontanillas, Annique Claringbould, Olivier B Bakker, Patrick Sulem, Robin G Walters, Chikashi Terao, Sandra Turon, Momoko Horikoshi, Kuang Lin, N Charlotte Onland-Moret, Aditya Sankar, Emil Peter Thrane Hertz, Pascal N Timshel, Vallari Shukla, Rehannah Borup, Kristina W Olsen, Paula Aguilera, Mònica Ferrer-Roda, Yan Huang, Stasa Stankovic, Paul R H J Timmers, Thomas U Ahearn, Behrooz Z Alizadeh, Elnaz Naderi, Irene L Andrulis, Alice M Arnold, Kristan J Aronson, Annelie Augustinsson, Stefania Bandinelli, Caterina M Barbieri, Robin N Beaumont, Heiko Becher, Matthias W Beckmann, Stefania Benonisdottir, Sven Bergmann, Murielle Bochud, Eric Boerwinkle, Stig E Bojesen, Manjeet K Bolla, Dorret I Boomsma, Nicholas Bowker, Jennifer A Brody, Linda Broer, Julie E Buring, Archie Campbell, Harry Campbell, Jose E Castelao, Eulalia Catamo, Stephen J Chanock, Georgia Chenevix-Trench, Marina Ciullo, Tanguy Corre, Fergus J Couch, Angela Cox, Laura Crisponi, Simon S Cross, Francesco Cucca, Kamila Czene, George Davey Smith, Eco J C N de Geus, Renée de Mutsert, Immaculata De Vivo, Ellen W Demerath, Joe Dennis, Alison M Dunning, Miriam Dwek, Mikael Eriksson, Tõnu Esko, Peter A Fasching, Jessica D Faul, Luigi Ferrucci, Nora Franceschini, Timothy M Frayling, Manuela Gago-Dominguez, Massimo Mezzavilla, Montserrat García-Closas, Christian Gieger, Graham G Giles, Harald Grallert, Daniel F Gudbjartsson, Vilmundur Gudnason, Pascal Guénel, Christopher A Haiman, Niclas Håkansson, Per Hall, Caroline Hayward, Chunyan He, Wei He, Gerardo Heiss, Miya K Høffding, John L Hopper, Jouke J Hottenga, Frank Hu, David Hunter, Mohammad A Ikram, Rebecca D Jackson, Micaella D R Joaquim, Esther M John, Peter K Joshi, David Karasik, Sharon L R Kardia, Christiana Kartsonaki, Robert Karlsson, Cari M Kitahara, Ivana Kolcic, Charles Kooperberg, Peter Kraft, Allison W Kurian, Zoltan Kutalik, Martina La Bianca, Genevieve LaChance, Claudia Langenberg, Lenore J Launer, Joop S E Laven, Deborah A Lawlor, Loic Le Marchand, Jingmei Li, Annika Lindblom, Sara Lindstrom, Tricia Lindstrom, Martha Linet, YongMei Liu, Simin Liu, Jian'an Luan, Reedik Mägi, Patrik K E Magnusson, Massimo Mangino, Arto Mannermaa, Brumat Marco, Jonathan Marten, Nicholas G Martin, Hamdi Mbarek, Barbara McKnight, Sarah E Medland, Christa Meisinger, Thomas Meitinger, Cristina Menni, Andres Metspalu, Lili Milani, Roger L Milne, Grant W Montgomery, Dennis O Mook-Kanamori, Antonella Mulas, Anna M Mulligan, Alison Murray, Mike A Nalls, Anne Newman, Raymond Noordam, Teresa Nutile, Dale R Nyholt, Andrew F Olshan, Håkan Olsson, Jodie N Painter, Alpa V Patel, Nancy L Pedersen, Natalia Perjakova, Annette Peters, Ulrike Peters, Paul D P Pharoah, Ozren Polasek, Eleonora Porcu, Bruce M Psaty, Iffat Rahman, Gad Rennert, Hedy S Rennert, Paul M Ridker, Susan M Ring, Antonietta Robino, Lynda M Rose, Frits R Rosendaal, Jacques Rossouw, Igor Rudan, Rico Rueedi, Daniela Ruggiero, Cinzia F Sala, Emmanouil Saloustros, Dale P Sandler, Serena Sanna, Elinor J Sawyer, Chloé Sarnowski, David Schlessinger, Marjanka K Schmidt, Minouk J Schoemaker, Katharina E Schraut, Christopher Scott, Saleh Shekari, Amruta Shrikhande, Albert V Smith, Blair H Smith, Jennifer A Smith, Rossella Sorice, Melissa C Southey, Tim D Spector, John J Spinelli, Meir Stampfer, Doris Stöckl, Joyce B J van Meurs, Konstantin Strauch, Unnur Styrkarsdottir, Anthony J Swerdlow, Toshiko Tanaka, Lauren R Teras, Alexander Teumer, Unnur Þorsteinsdottir, Nicholas J Timpson, Daniela Toniolo, Michela Traglia, Melissa A Troester, Thérèse Truong, Jessica Tyrrell, André G Uitterlinden, Sheila Ulivi, Celine M Vachon, Veronique Vitart, Uwe Völker, Peter Vollenweider, Henry Völzke, Qin Wang, Nicholas J Wareham, Clarice R Weinberg, David R Weir, Amber N Wilcox, Ko Willems van Dijk, Gonneke Willemsen, James F Wilson, Bruce H R Wolffenbuttel, Alicja Wolk, Andrew R Wood, Wei Zhao, Marek Zygmunt, Zhengming Chen, Liming Li, Lude Franke, Stephen Burgess, Patrick Deelen, Tune H Pers, Marie Louise Grøndahl, Claus Yding Andersen, Anna Pujol, Andres J Lopez-Contreras, Jeremy A Daniel, Kari Stefansson, Jenny Chang-Claude, Yvonne T van der Schouw, Kathryn L Lunetta, Daniel I Chasman, Douglas F Easton, Jenny A Visser, Susan E Ozanne, Satoshi H Namekawa, Petr Solc, Joanne M Murabito, Ken K Ong, Eva R Hoffmann, Anna Murray, Ignasi Roig, John R B Perry
Reproductive longevity is essential for fertility and influences healthy ageing in women1,2 , but insights into its underlying biological mechanisms and treatments to preserve it are limited. Here we identify 290 genetic determinants of ovarian ageing, assessed using normal variation in age at natural menopause (ANM) in about 200,000 women of European ancestry. These common alleles were associated with clinical extremes of ANM; women in the top 1% of genetic susceptibility have an equivalent risk of premature ovarian insufficiency to those carrying monogenic FMR1 premutations3 ...
August 2021: Nature
https://read.qxmd.com/read/34341517/mendelian-randomisation-study-of-smoking-exposure-in-relation-to-breast-cancer-risk
#26
JOURNAL ARTICLE
Hanla A Park, Sonja Neumeyer, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Joe Dennis, Thomas U Ahearn, Irene L Andrulis, Hoda Anton-Culver, Natalia N Antonenkova, Volker Arndt, Kristan J Aronson, Annelie Augustinsson, Adinda Baten, Laura E Beane Freeman, Heiko Becher, Matthias W Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, Natalia V Bogdanova, Stig E Bojesen, Hiltrud Brauch, Hermann Brenner, Sara Y Brucker, Barbara Burwinkel, Daniele Campa, Federico Canzian, Jose E Castelao, Stephen J Chanock, Georgia Chenevix-Trench, Christine L Clarke, Don M Conroy, Fergus J Couch, Angela Cox, Simon S Cross, Kamila Czene, Mary B Daly, Peter Devilee, Thilo Dörk, Isabel Dos-Santos-Silva, Miriam Dwek, Diana M Eccles, A Heather Eliassen, Christoph Engel, Mikael Eriksson, D Gareth Evans, Peter A Fasching, Henrik Flyger, Lin Fritschi, Montserrat García-Closas, José A García-Sáenz, Mia M Gaudet, Graham G Giles, Gord Glendon, Mark S Goldberg, David E Goldgar, Anna González-Neira, Mervi Grip, Pascal Guénel, Eric Hahnen, Christopher A Haiman, Niclas Håkansson, Per Hall, Ute Hamann, Sileny Han, Elaine F Harkness, Steven N Hart, Wei He, Bernadette A M Heemskerk-Gerritsen, John L Hopper, David J Hunter, Agnes Jager, Anna Jakubowska, Esther M John, Audrey Jung, Rudolf Kaaks, Pooja Middha Kapoor, Renske Keeman, Elza Khusnutdinova, Cari M Kitahara, Linetta B Koppert, Stella Koutros, Vessela N Kristensen, Allison W Kurian, James Lacey, Diether Lambrechts, Loic Le Marchand, Wing-Yee Lo, Jan Lubiński, Arto Mannermaa, Mehdi Manoochehri, Sara Margolin, Maria Elena Martinez, Dimitrios Mavroudis, Alfons Meindl, Usha Menon, Roger L Milne, Taru A Muranen, Heli Nevanlinna, William G Newman, Børge G Nordestgaard, Kenneth Offit, Andrew F Olshan, Håkan Olsson, Tjoung-Won Park-Simon, Paolo Peterlongo, Julian Peto, Dijana Plaseska-Karanfilska, Nadege Presneau, Paolo Radice, Gad Rennert, Hedy S Rennert, Atocha Romero, Emmanouil Saloustros, Elinor J Sawyer, Marjanka K Schmidt, Rita K Schmutzler, Minouk J Schoemaker, Lukas Schwentner, Christopher Scott, Mitul Shah, Xiao-Ou Shu, Jacques Simard, Ann Smeets, Melissa C Southey, John J Spinelli, Victoria Stevens, Anthony J Swerdlow, Rulla M Tamimi, William J Tapper, Jack A Taylor, Mary Beth Terry, Ian Tomlinson, Melissa A Troester, Thérèse Truong, Celine M Vachon, Elke M van Veen, Joseph Vijai, Sophia Wang, Camilla Wendt, Robert Winqvist, Alicja Wolk, Argyrios Ziogas, Alison M Dunning, Paul D P Pharoah, Douglas F Easton, Wei Zheng, Peter Kraft, Jenny Chang-Claude
BACKGROUND: Despite a modest association between tobacco smoking and breast cancer risk reported by recent epidemiological studies, it is still equivocal whether smoking is causally related to breast cancer risk. METHODS: We applied Mendelian randomisation (MR) to evaluate a potential causal effect of cigarette smoking on breast cancer risk. Both individual-level data as well as summary statistics for 164 single-nucleotide polymorphisms (SNPs) reported in genome-wide association studies of lifetime smoking index (LSI) or cigarette per day (CPD) were used to obtain MR effect estimates...
August 2, 2021: British Journal of Cancer
https://read.qxmd.com/read/34146516/functional-annotation-of-the-2q35-breast-cancer-risk-locus-implicates-a-structural-variant-in-influencing-activity-of-a-long-range-enhancer-element
#27
JOURNAL ARTICLE
Joseph S Baxter, Nichola Johnson, Katarzyna Tomczyk, Andrea Gillespie, Sarah Maguire, Rachel Brough, Laura Fachal, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Joe Dennis, Thomas U Ahearn, Irene L Andrulis, Hoda Anton-Culver, Natalia N Antonenkova, Volker Arndt, Kristan J Aronson, Annelie Augustinsson, Heiko Becher, Matthias W Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, Natalia V Bogdanova, Stig E Bojesen, Hermann Brenner, Sara Y Brucker, Qiuyin Cai, Daniele Campa, Federico Canzian, Jose E Castelao, Tsun L Chan, Jenny Chang-Claude, Stephen J Chanock, Georgia Chenevix-Trench, Ji-Yeob Choi, Christine L Clarke, Sarah Colonna, Don M Conroy, Fergus J Couch, Angela Cox, Simon S Cross, Kamila Czene, Mary B Daly, Peter Devilee, Thilo Dörk, Laure Dossus, Miriam Dwek, Diana M Eccles, Arif B Ekici, A Heather Eliassen, Christoph Engel, Peter A Fasching, Jonine Figueroa, Henrik Flyger, Manuela Gago-Dominguez, Chi Gao, Montserrat García-Closas, José A García-Sáenz, Maya Ghoussaini, Graham G Giles, Mark S Goldberg, Anna González-Neira, Pascal Guénel, Melanie Gündert, Lothar Haeberle, Eric Hahnen, Christopher A Haiman, Per Hall, Ute Hamann, Mikael Hartman, Sigrid Hatse, Jan Hauke, Antoinette Hollestelle, Reiner Hoppe, John L Hopper, Ming-Feng Hou, Hidemi Ito, Motoki Iwasaki, Agnes Jager, Anna Jakubowska, Wolfgang Janni, Esther M John, Vijai Joseph, Audrey Jung, Rudolf Kaaks, Daehee Kang, Renske Keeman, Elza Khusnutdinova, Sung-Won Kim, Veli-Matti Kosma, Peter Kraft, Vessela N Kristensen, Katerina Kubelka-Sabit, Allison W Kurian, Ava Kwong, James V Lacey, Diether Lambrechts, Nicole L Larson, Susanna C Larsson, Loic Le Marchand, Flavio Lejbkowicz, Jingmei Li, Jirong Long, Artitaya Lophatananon, Jan Lubiński, Arto Mannermaa, Mehdi Manoochehri, Siranoush Manoukian, Sara Margolin, Keitaro Matsuo, Dimitrios Mavroudis, Rebecca Mayes, Usha Menon, Roger L Milne, Nur Aishah Mohd Taib, Kenneth Muir, Taru A Muranen, Rachel A Murphy, Heli Nevanlinna, Katie M O'Brien, Kenneth Offit, Janet E Olson, Håkan Olsson, Sue K Park, Tjoung-Won Park-Simon, Alpa V Patel, Paolo Peterlongo, Julian Peto, Dijana Plaseska-Karanfilska, Nadege Presneau, Katri Pylkäs, Brigitte Rack, Gad Rennert, Atocha Romero, Matthias Ruebner, Thomas Rüdiger, Emmanouil Saloustros, Dale P Sandler, Elinor J Sawyer, Marjanka K Schmidt, Rita K Schmutzler, Andreas Schneeweiss, Minouk J Schoemaker, Mitul Shah, Chen-Yang Shen, Xiao-Ou Shu, Jacques Simard, Melissa C Southey, Jennifer Stone, Harald Surowy, Anthony J Swerdlow, Rulla M Tamimi, William J Tapper, Jack A Taylor, Soo Hwang Teo, Lauren R Teras, Mary Beth Terry, Amanda E Toland, Ian Tomlinson, Thérèse Truong, Chiu-Chen Tseng, Michael Untch, Celine M Vachon, Ans M W van den Ouweland, Sophia S Wang, Clarice R Weinberg, Camilla Wendt, Stacey J Winham, Robert Winqvist, Alicja Wolk, Anna H Wu, Taiki Yamaji, Wei Zheng, Argyrios Ziogas, Paul D P Pharoah, Alison M Dunning, Douglas F Easton, Stephen J Pettitt, Christopher J Lord, Syed Haider, Nick Orr, Olivia Fletcher
A combination of genetic and functional approaches has identified three independent breast cancer risk loci at 2q35. A recent fine-scale mapping analysis to refine these associations resulted in 1 (signal 1), 5 (signal 2), and 42 (signal 3) credible causal variants at these loci. We used publicly available in silico DNase I and ChIP-seq data with in vitro reporter gene and CRISPR assays to annotate signals 2 and 3. We identified putative regulatory elements that enhanced cell-type-specific transcription from the IGFBP5 promoter at both signals (30- to 40-fold increased expression by the putative regulatory element at signal 2, 2- to 3-fold by the putative regulatory element at signal 3)...
July 1, 2021: American Journal of Human Genetics
https://read.qxmd.com/read/33990587/author-correction-a-case-only-study-to-identify-genetic-modifiers-of-breast-cancer-risk-for-brca1-brca2-mutation-carriers
#28
Juliette Coignard, Michael Lush, Jonathan Beesley, Tracy A O'Mara, Joe Dennis, Jonathan P Tyrer, Daniel R Barnes, Lesley McGuffog, Goska Leslie, Manjeet K Bolla, Muriel A Adank, Simona Agata, Thomas Ahearn, Kristiina Aittomäki, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Norbert Arnold, Kristan J Aronson, Banu K Arun, Annelie Augustinsson, Jacopo Azzollini, Daniel Barrowdale, Caroline Baynes, Heko Becher, Marina Bermisheva, Leslie Bernstein, Katarzyna Białkowska, Carl Blomqvist, Stig E Bojesen, Bernardo Bonanni, Ake Borg, Hiltrud Brauch, Hermann Brenner, Barbara Burwinkel, Saundra S Buys, Trinidad Caldés, Maria A Caligo, Daniele Campa, Brian D Carter, Jose E Castelao, Jenny Chang-Claude, Stephen J Chanock, Wendy K Chung, Kathleen B M Claes, Christine L Clarke, J Margriet Collée, Don M Conroy, Kamila Czene, Mary B Daly, Peter Devilee, Orland Diez, Yuan Chun Ding, Susan M Domchek, Thilo Dörk, Isabel Dos-Santos-Silva, Alison M Dunning, Miriam Dwek, Diana M Eccles, A Heather Eliassen, Christoph Engel, Mikael Eriksson, D Gareth Evans, Peter A Fasching, Henrik Flyger, Florentia Fostira, Eitan Friedman, Lin Fritschi, Debra Frost, Manuela Gago-Dominguez, Susan M Gapstur, Judy Garber, Vanesa Garcia-Barberan, Montserrat García-Closas, José A García-Sáenz, Mia M Gaudet, Simon A Gayther, Andrea Gehrig, Vassilios Georgoulias, Graham G Giles, Andrew K Godwin, Mark S Goldberg, David E Goldgar, Anna González-Neira, Mark H Greene, Pascal Guénel, Lothar Haeberle, Eric Hahnen, Christopher A Haiman, Niclas Håkansson, Per Hall, Ute Hamann, Patricia A Harrington, Steven N Hart, Wei He, Frans B L Hogervorst, Antoinette Hollestelle, John L Hopper, Darling J Horcasitas, Peter J Hulick, David J Hunter, Evgeny N Imyanitov, Agnes Jager, Anna Jakubowska, Paul A James, Uffe Birk Jensen, Esther M John, Michael E Jones, Rudolf Kaaks, Pooja Middha Kapoor, Beth Y Karlan, Renske Keeman, Elza Khusnutdinova, Johanna I Kiiski, Yon-Dschun Ko, Veli-Matti Kosma, Peter Kraft, Allison W Kurian, Yael Laitman, Diether Lambrechts, Loic Le Marchand, Jenny Lester, Fabienne Lesueur, Tricia Lindstrom, Adria Lopez-Fernández, Jennifer T Loud, Craig Luccarini, Arto Mannermaa, Siranoush Manoukian, Sara Margolin, John W M Martens, Noura Mebirouk, Alfons Meindl, Austin Miller, Roger L Milne, Marco Montagna, Katherine L Nathanson, Susan L Neuhausen, Heli Nevanlinna, Finn C Nielsen, Katie M O'Brien, Olufunmilayo I Olopade, Janet E Olson, Håkan Olsson, Ana Osorio, Laura Ottini, Tjoung-Won Park-Simon, Michael T Parsons, Inge Sokilde Pedersen, Beth Peshkin, Paolo Peterlongo, Julian Peto, Paul D P Pharoah, Kelly-Anne Phillips, Eric C Polley, Bruce Poppe, Nadege Presneau, Miquel Angel Pujana, Kevin Punie, Paolo Radice, Johanna Rantala, Muhammad U Rashid, Gad Rennert, Hedy S Rennert, Mark Robson, Atocha Romero, Maria Rossing, Emmanouil Saloustros, Dale P Sandler, Regina Santella, Maren T Scheuner, Marjanka K Schmidt, Gunnar Schmidt, Christopher Scott, Priyanka Sharma, Penny Soucy, Melissa C Southey, John J Spinelli, Zoe Steinsnyder, Jennifer Stone, Dominique Stoppa-Lyonnet, Anthony Swerdlow, Rulla M Tamimi, William J Tapper, Jack A Taylor, Mary Beth Terry, Alex Teulé, Darcy L Thull, Marc Tischkowitz, Amanda E Toland, Diana Torres, Alison H Trainer, Thérèse Truong, Nadine Tung, Celine M Vachon, Ana Vega, Joseph Vijai, Qin Wang, Barbara Wappenschmidt, Clarice R Weinberg, Jeffrey N Weitzel, Camilla Wendt, Alicja Wolk, Siddhartha Yadav, Xiaohong R Yang, Drakoulis Yannoukakos, Wei Zheng, Argyrios Ziogas, Kristin K Zorn, Sue K Park, Mads Thomassen, Kenneth Offit, Rita K Schmutzler, Fergus J Couch, Jacques Simard, Georgia Chenevix-Trench, Douglas F Easton, Nadine Andrieu, Antonis C Antoniou
A Correction to this paper has been published: https://doi.org/10.1038/s41467-021-23162-4.
May 14, 2021: Nature Communications
https://read.qxmd.com/read/33769464/treatment-and-prevention-of-lipoprotein-a-mediated-cardiovascular-disease-the-emerging-potential-of-rna-interference-therapeutics
#29
REVIEW
Daniel I Swerdlow, David A Rider, Arash Yavari, Marie Wikström Lindholm, Giles V Campion, Steven E Nissen
Lipid- and lipoprotein-modifying therapies have expanded substantially in the last 25 years, resulting in reduction in the incidence of major adverse cardiovascular events. However, no specific lipoprotein(a) [Lp(a)]-targeting therapy has yet been shown to reduce cardiovascular disease risk. Many epidemiological and genetic studies have demonstrated that Lp(a) is an important genetically determined causal risk factor for coronary heart disease, aortic valve disease, stroke, heart failure, and peripheral vascular disease...
March 25, 2022: Cardiovascular Research
https://read.qxmd.com/read/33644404/mendelian-randomization-for-studying-the-effects-of-perturbing-drug-targets
#30
REVIEW
Dipender Gill, Marios K Georgakis, Venexia M Walker, A Floriaan Schmidt, Apostolos Gkatzionis, Daniel F Freitag, Chris Finan, Aroon D Hingorani, Joanna M M Howson, Stephen Burgess, Daniel I Swerdlow, George Davey Smith, Michael V Holmes, Martin Dichgans, Jie Zheng, Bruce M Psaty, Neil M Davies
Drugs whose targets have genetic evidence to support efficacy and safety are more likely to be approved after clinical development. In this paper, we provide an overview of how natural sequence variation in the genes that encode drug targets can be used in Mendelian randomization analyses to offer insight into mechanism-based efficacy and adverse effects. Large databases of summary level genetic association data are increasingly available and can be leveraged to identify and validate variants that serve as proxies for drug target perturbation...
2021: Wellcome Open Research
https://read.qxmd.com/read/33597508/a-case-only-study-to-identify-genetic-modifiers-of-breast-cancer-risk-for-brca1-brca2-mutation-carriers
#31
MULTICENTER STUDY
Juliette Coignard, Michael Lush, Jonathan Beesley, Tracy A O'Mara, Joe Dennis, Jonathan P Tyrer, Daniel R Barnes, Lesley McGuffog, Goska Leslie, Manjeet K Bolla, Muriel A Adank, Simona Agata, Thomas Ahearn, Kristiina Aittomäki, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Norbert Arnold, Kristan J Aronson, Banu K Arun, Annelie Augustinsson, Jacopo Azzollini, Daniel Barrowdale, Caroline Baynes, Heiko Becher, Marina Bermisheva, Leslie Bernstein, Katarzyna Białkowska, Carl Blomqvist, Stig E Bojesen, Bernardo Bonanni, Ake Borg, Hiltrud Brauch, Hermann Brenner, Barbara Burwinkel, Saundra S Buys, Trinidad Caldés, Maria A Caligo, Daniele Campa, Brian D Carter, Jose E Castelao, Jenny Chang-Claude, Stephen J Chanock, Wendy K Chung, Kathleen B M Claes, Christine L Clarke, J Margriet Collée, Don M Conroy, Kamila Czene, Mary B Daly, Peter Devilee, Orland Diez, Yuan Chun Ding, Susan M Domchek, Thilo Dörk, Isabel Dos-Santos-Silva, Alison M Dunning, Miriam Dwek, Diana M Eccles, A Heather Eliassen, Christoph Engel, Mikael Eriksson, D Gareth Evans, Peter A Fasching, Henrik Flyger, Florentia Fostira, Eitan Friedman, Lin Fritschi, Debra Frost, Manuela Gago-Dominguez, Susan M Gapstur, Judy Garber, Vanesa Garcia-Barberan, Montserrat García-Closas, José A García-Sáenz, Mia M Gaudet, Simon A Gayther, Andrea Gehrig, Vassilios Georgoulias, Graham G Giles, Andrew K Godwin, Mark S Goldberg, David E Goldgar, Anna González-Neira, Mark H Greene, Pascal Guénel, Lothar Haeberle, Eric Hahnen, Christopher A Haiman, Niclas Håkansson, Per Hall, Ute Hamann, Patricia A Harrington, Steven N Hart, Wei He, Frans B L Hogervorst, Antoinette Hollestelle, John L Hopper, Darling J Horcasitas, Peter J Hulick, David J Hunter, Evgeny N Imyanitov, Agnes Jager, Anna Jakubowska, Paul A James, Uffe Birk Jensen, Esther M John, Michael E Jones, Rudolf Kaaks, Pooja Middha Kapoor, Beth Y Karlan, Renske Keeman, Elza Khusnutdinova, Johanna I Kiiski, Yon-Dschun Ko, Veli-Matti Kosma, Peter Kraft, Allison W Kurian, Yael Laitman, Diether Lambrechts, Loic Le Marchand, Jenny Lester, Fabienne Lesueur, Tricia Lindstrom, Adria Lopez-Fernández, Jennifer T Loud, Craig Luccarini, Arto Mannermaa, Siranoush Manoukian, Sara Margolin, John W M Martens, Noura Mebirouk, Alfons Meindl, Austin Miller, Roger L Milne, Marco Montagna, Katherine L Nathanson, Susan L Neuhausen, Heli Nevanlinna, Finn C Nielsen, Katie M O'Brien, Olufunmilayo I Olopade, Janet E Olson, Håkan Olsson, Ana Osorio, Laura Ottini, Tjoung-Won Park-Simon, Michael T Parsons, Inge Sokilde Pedersen, Beth Peshkin, Paolo Peterlongo, Julian Peto, Paul D P Pharoah, Kelly-Anne Phillips, Eric C Polley, Bruce Poppe, Nadege Presneau, Miquel Angel Pujana, Kevin Punie, Paolo Radice, Johanna Rantala, Muhammad U Rashid, Gad Rennert, Hedy S Rennert, Mark Robson, Atocha Romero, Maria Rossing, Emmanouil Saloustros, Dale P Sandler, Regina Santella, Maren T Scheuner, Marjanka K Schmidt, Gunnar Schmidt, Christopher Scott, Priyanka Sharma, Penny Soucy, Melissa C Southey, John J Spinelli, Zoe Steinsnyder, Jennifer Stone, Dominique Stoppa-Lyonnet, Anthony Swerdlow, Rulla M Tamimi, William J Tapper, Jack A Taylor, Mary Beth Terry, Alex Teulé, Darcy L Thull, Marc Tischkowitz, Amanda E Toland, Diana Torres, Alison H Trainer, Thérèse Truong, Nadine Tung, Celine M Vachon, Ana Vega, Joseph Vijai, Qin Wang, Barbara Wappenschmidt, Clarice R Weinberg, Jeffrey N Weitzel, Camilla Wendt, Alicja Wolk, Siddhartha Yadav, Xiaohong R Yang, Drakoulis Yannoukakos, Wei Zheng, Argyrios Ziogas, Kristin K Zorn, Sue K Park, Mads Thomassen, Kenneth Offit, Rita K Schmutzler, Fergus J Couch, Jacques Simard, Georgia Chenevix-Trench, Douglas F Easton, Nadine Andrieu, Antonis C Antoniou
Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations...
February 17, 2021: Nature Communications
https://read.qxmd.com/read/33495599/cyp3a7-1c-allele-linking-premenopausal-oestrone-and-progesterone-levels-with-risk-of-hormone-receptor-positive-breast-cancers
#32
JOURNAL ARTICLE
Nichola Johnson, Sarah Maguire, Anna Morra, Pooja Middha Kapoor, Katarzyna Tomczyk, Michael E Jones, Minouk J Schoemaker, Clare Gilham, Manjeet K Bolla, Qin Wang, Joe Dennis, Thomas U Ahearn, Irene L Andrulis, Hoda Anton-Culver, Natalia N Antonenkova, Volker Arndt, Kristan J Aronson, Annelie Augustinsson, Caroline Baynes, Laura E Beane Freeman, Matthias W Beckmann, Javier Benitez, Marina Bermisheva, Carl Blomqvist, Bram Boeckx, Natalia V Bogdanova, Stig E Bojesen, Hiltrud Brauch, Hermann Brenner, Barbara Burwinkel, Daniele Campa, Federico Canzian, Jose E Castelao, Stephen J Chanock, Georgia Chenevix-Trench, Christine L Clarke, Don M Conroy, Fergus J Couch, Angela Cox, Simon S Cross, Kamila Czene, Thilo Dörk, A Heather Eliassen, Christoph Engel, D Gareth Evans, Peter A Fasching, Jonine Figueroa, Giuseppe Floris, Henrik Flyger, Manuela Gago-Dominguez, Susan M Gapstur, Montserrat García-Closas, Mia M Gaudet, Graham G Giles, Mark S Goldberg, Anna González-Neira, Pascal Guénel, Eric Hahnen, Christopher A Haiman, Niclas Håkansson, Per Hall, Ute Hamann, Patricia A Harrington, Steven N Hart, Maartje J Hooning, John L Hopper, Anthony Howell, David J Hunter, Agnes Jager, Anna Jakubowska, Esther M John, Rudolf Kaaks, Renske Keeman, Elza Khusnutdinova, Cari M Kitahara, Veli-Matti Kosma, Stella Koutros, Peter Kraft, Vessela N Kristensen, Allison W Kurian, Diether Lambrechts, Loic Le Marchand, Martha Linet, Jan Lubiński, Arto Mannermaa, Siranoush Manoukian, Sara Margolin, John W M Martens, Dimitrios Mavroudis, Rebecca Mayes, Alfons Meindl, Roger L Milne, Susan L Neuhausen, Heli Nevanlinna, William G Newman, Sune F Nielsen, Børge G Nordestgaard, Nadia Obi, Andrew F Olshan, Janet E Olson, Håkan Olsson, Ester Orban, Tjoung-Won Park-Simon, Paolo Peterlongo, Dijana Plaseska-Karanfilska, Katri Pylkäs, Gad Rennert, Hedy S Rennert, Kathryn J Ruddy, Emmanouil Saloustros, Dale P Sandler, Elinor J Sawyer, Rita K Schmutzler, Christopher Scott, Xiao-Ou Shu, Jacques Simard, Snezhana Smichkoska, Christof Sohn, Melissa C Southey, John J Spinelli, Jennifer Stone, Rulla M Tamimi, Jack A Taylor, Rob A E M Tollenaar, Ian Tomlinson, Melissa A Troester, Thérèse Truong, Celine M Vachon, Elke M van Veen, Sophia S Wang, Clarice R Weinberg, Camilla Wendt, Hans Wildiers, Robert Winqvist, Alicja Wolk, Wei Zheng, Argyrios Ziogas, Alison M Dunning, Paul D P Pharoah, Douglas F Easton, A Forbes Howie, Julian Peto, Isabel Dos-Santos-Silva, Anthony J Swerdlow, Jenny Chang-Claude, Marjanka K Schmidt, Nick Orr, Olivia Fletcher
BACKGROUND: Epidemiological studies provide strong evidence for a role of endogenous sex hormones in the aetiology of breast cancer. The aim of this analysis was to identify genetic variants that are associated with urinary sex-hormone levels and breast cancer risk. METHODS: We carried out a genome-wide association study of urinary oestrone-3-glucuronide and pregnanediol-3-glucuronide levels in 560 premenopausal women, with additional analysis of progesterone levels in 298 premenopausal women...
February 2021: British Journal of Cancer
https://read.qxmd.com/read/33144283/cross-cancer-genome-wide-association-study-of-endometrial-cancer-and-epithelial-ovarian-cancer-identifies-genetic-risk-regions-associated-with-risk-of-both-cancers
#33
JOURNAL ARTICLE
Dylan M Glubb, Deborah J Thompson, Katja K H Aben, Ahmad Alsulimani, Frederic Amant, Daniela Annibali, John Attia, Aurelio Barricarte, Matthias W Beckmann, Andrew Berchuck, Marina Bermisheva, Marcus Q Bernardini, Katharina Bischof, Line Bjorge, Clara Bodelon, Alison H Brand, James D Brenton, Louise A Brinton, Fiona Bruinsma, Daniel D Buchanan, Stefanie Burghaus, Ralf Butzow, Hui Cai, Michael E Carney, Stephen J Chanock, Chu Chen, Xiao Qing Chen, Zhihua Chen, Linda S Cook, Julie M Cunningham, Immaculata De Vivo, Anna deFazio, Jennifer A Doherty, Thilo Dörk, Andreas du Bois, Alison M Dunning, Matthias Dürst, Todd Edwards, Robert P Edwards, Arif B Ekici, Ailith Ewing, Peter A Fasching, Sarah Ferguson, James M Flanagan, Florentia Fostira, George Fountzilas, Christine M Friedenreich, Bo Gao, Mia M Gaudet, Jan Gawełko, Aleksandra Gentry-Maharaj, Graham G Giles, Rosalind Glasspool, Marc T Goodman, Jacek Gronwald, Holly R Harris, Philipp Harter, Alexander Hein, Florian Heitz, Michelle A T Hildebrandt, Peter Hillemanns, Estrid Høgdall, Claus K Høgdall, Elizabeth G Holliday, David G Huntsman, Tomasz Huzarski, Anna Jakubowska, Allan Jensen, Michael E Jones, Beth Y Karlan, Anthony Karnezis, Joseph L Kelley, Elza Khusnutdinova, Jeffrey L Killeen, Susanne K Kjaer, Rüdiger Klapdor, Martin Köbel, Bozena Konopka, Irene Konstantopoulou, Reidun K Kopperud, Madhuri Koti, Peter Kraft, Jolanta Kupryjanczyk, Diether Lambrechts, Melissa C Larson, Loic Le Marchand, Shashikant Lele, Jenny Lester, Andrew J Li, Dong Liang, Clemens Liebrich, Loren Lipworth, Jolanta Lissowska, Lingeng Lu, Karen H Lu, Alessandra Macciotta, Amalia Mattiello, Taymaa May, Jessica N McAlpine, Valerie McGuire, Iain A McNeish, Usha Menon, Francesmary Modugno, Kirsten B Moysich, Heli Nevanlinna, Kunle Odunsi, Håkan Olsson, Sandra Orsulic, Ana Osorio, Domenico Palli, Tjoung-Won Park-Simon, Celeste L Pearce, Tanja Pejovic, Jennifer B Permuth, Agnieszka Podgorska, Susan J Ramus, Timothy R Rebbeck, Marjorie J Riggan, Harvey A Risch, Joseph H Rothstein, Ingo B Runnebaum, Rodney J Scott, Thomas A Sellers, Janine Senz, Veronica Wendy Setiawan, Nadeem Siddiqui, Weiva Sieh, Beata Spiewankiewicz, Rebecca Sutphen, Anthony J Swerdlow, Lukasz Michael Szafron, Soo Hwang Teo, Pamela J Thompson, Liv Cecilie Vestrheim Thomsen, Linda Titus, Alicia Tone, Rosario Tumino, Constance Turman, Adriaan Vanderstichele, Digna Velez Edwards, Ignace Vergote, Robert A Vierkant, Zhaoming Wang, Shan Wang-Gohrke, Penelope M Webb, Emily White, Alice S Whittemore, Stacey J Winham, Xifeng Wu, Anna H Wu, Drakoulis Yannoukakos, Amanda B Spurdle, Tracy A O'Mara
BACKGROUND: Accumulating evidence suggests a relationship between endometrial cancer and ovarian cancer. Independent genome-wide association studies (GWAS) for endometrial cancer and ovarian cancer have identified 16 and 27 risk regions, respectively, four of which overlap between the two cancers. We aimed to identify joint endometrial and ovarian cancer risk loci by performing a meta-analysis of GWAS summary statistics from these two cancers. METHODS: Using LDScore regression, we explored the genetic correlation between endometrial cancer and ovarian cancer...
January 2021: Cancer Epidemiology, Biomarkers & Prevention
https://read.qxmd.com/read/33074286/novel-alzheimer-disease-risk-loci-and-pathways-in-african-american-individuals-using-the-african-genome-resources-panel-a-meta-analysis
#34
JOURNAL ARTICLE
Brian W Kunkle, Michael Schmidt, Hans-Ulrich Klein, Adam C Naj, Kara L Hamilton-Nelson, Eric B Larson, Denis A Evans, Phil L De Jager, Paul K Crane, Joe D Buxbaum, Nilufer Ertekin-Taner, Lisa L Barnes, M Daniele Fallin, Jennifer J Manly, Rodney C P Go, Thomas O Obisesan, M Ilyas Kamboh, David A Bennett, Kathleen S Hall, Alison M Goate, Tatiana M Foroud, Eden R Martin, Li-Sao Wang, Goldie S Byrd, Lindsay A Farrer, Jonathan L Haines, Gerard D Schellenberg, Richard Mayeux, Margaret A Pericak-Vance, Christiane Reitz, Neill R Graff-Radford, Izri Martinez, Temitope Ayodele, Mark W Logue, Laura B Cantwell, Melissa Jean-Francois, Amanda B Kuzma, L D Adams, Jeffery M Vance, Michael L Cuccaro, Jaeyoon Chung, Jesse Mez, Kathryn L Lunetta, Gyungah R Jun, Oscar L Lopez, Hugh C Hendrie, Eric M Reiman, Neil W Kowall, James B Leverenz, Scott A Small, Allan I Levey, Todd E Golde, Andrew J Saykin, Takiyah D Starks, Marilyn S Albert, Bradley T Hyman, Ronald C Petersen, Mary Sano, Thomas Wisniewski, Robert Vassar, Jeffrey A Kaye, Victor W Henderson, Charles DeCarli, Frank M LaFerla, James B Brewer, Bruce L Miller, Russell H Swerdlow, Linda J Van Eldik, Henry L Paulson, John Q Trojanowski, Helena C Chui, Roger N Rosenberg, Suzanne Craft, Thomas J Grabowski, Sanjay Asthana, John C Morris, Stephen M Strittmatter, Walter A Kukull
Importance: Compared with non-Hispanic White individuals, African American individuals from the same community are approximately twice as likely to develop Alzheimer disease. Despite this disparity, the largest Alzheimer disease genome-wide association studies to date have been conducted in non-Hispanic White individuals. In the largest association analyses of Alzheimer disease in African American individuals, ABCA7, TREM2, and an intergenic locus at 5q35 were previously implicated. Objective: To identify additional risk loci in African American individuals by increasing the sample size and using the African Genome Resource panel...
January 1, 2021: JAMA Neurology
https://read.qxmd.com/read/32707116/long-term-mortality-after-childhood-growth-hormone-treatment-the-saghe-cohort-study
#35
JOURNAL ARTICLE
Lars Sävendahl, Rosie Cooke, Anders Tidblad, Dominique Beckers, Gary Butler, Stefano Cianfarani, Peter Clayton, Joël Coste, Anita C S Hokken-Koelega, Wieland Kiess, Claudia E Kuehni, Kerstin Albertsson-Wikland, Annalisa Deodati, Emmanuel Ecosse, Ruth Gausche, Claudio Giacomozzi, Daniel Konrad, Fabienne Landier, Roland Pfaeffle, Grit Sommer, Muriel Thomas, Sally Tollerfield, Gladys R J Zandwijken, Jean-Claude Carel, Anthony J Swerdlow
BACKGROUND: Recombinant human growth hormone has been used for more than 30 years and its indications have increased worldwide. There is concern that this treatment might increase mortality, but published data are scarce. We present data from the entire dataset of all eight countries of the Safety and Appropriateness of Growth hormone treatments in Europe (SAGhE) consortium, with the aim of studying long-term overall and cause-specific mortality in young adult patients treated with recombinant human growth hormone during childhood and relating this to the underlying diagnosis...
August 2020: Lancet Diabetes & Endocrinology
https://read.qxmd.com/read/32546843/germline-hoxb13-mutations-p-g84e-and-p-r217c-do-not-confer-an-increased-breast-cancer-risk
#36
JOURNAL ARTICLE
Jingjing Liu, Wendy J C Prager-van der Smissen, J Margriet Collée, Manjeet K Bolla, Qin Wang, Kyriaki Michailidou, Joe Dennis, Thomas U Ahearn, Kristiina Aittomäki, Christine B Ambrosone, Irene L Andrulis, Hoda Anton-Culver, Natalia N Antonenkova, Volker Arndt, Norbert Arnold, Kristan J Aronson, Annelie Augustinsson, Päivi Auvinen, Heiko Becher, Matthias W Beckmann, Sabine Behrens, Marina Bermisheva, Leslie Bernstein, Natalia V Bogdanova, Nadja Bogdanova-Markov, Stig E Bojesen, Hiltrud Brauch, Hermann Brenner, Ignacio Briceno, Sara Y Brucker, Thomas Brüning, Barbara Burwinkel, Qiuyin Cai, Hui Cai, Daniele Campa, Federico Canzian, Jose E Castelao, Jenny Chang-Claude, Stephen J Chanock, Ji-Yeob Choi, Melissa Christiaens, Christine L Clarke, Fergus J Couch, Kamila Czene, Mary B Daly, Peter Devilee, Isabel Dos-Santos-Silva, Miriam Dwek, Diana M Eccles, A Heather Eliassen, Peter A Fasching, Jonine Figueroa, Henrik Flyger, Lin Fritschi, Manuela Gago-Dominguez, Susan M Gapstur, Montserrat García-Closas, José A García-Sáenz, Mia M Gaudet, Graham G Giles, Mark S Goldberg, David E Goldgar, Pascal Guénel, Christopher A Haiman, Niclas Håkansson, Per Hall, Patricia A Harrington, Steven N Hart, Mikael Hartman, Peter Hillemanns, John L Hopper, Ming-Feng Hou, David J Hunter, Dezheng Huo, Hidemi Ito, Motoki Iwasaki, Milena Jakimovska, Anna Jakubowska, Esther M John, Rudolf Kaaks, Daehee Kang, Renske Keeman, Elza Khusnutdinova, Sung-Won Kim, Peter Kraft, Vessela N Kristensen, Allison W Kurian, Loic Le Marchand, Jingmei Li, Annika Lindblom, Artitaya Lophatananon, Robert N Luben, Jan Lubiński, Arto Mannermaa, Mehdi Manoochehri, Siranoush Manoukian, Sara Margolin, Shivaani Mariapun, Keitaro Matsuo, Tabea Maurer, Dimitrios Mavroudis, Alfons Meindl, Usha Menon, Roger L Milne, Kenneth Muir, Anna Marie Mulligan, Susan L Neuhausen, Heli Nevanlinna, Kenneth Offit, Olufunmilayo I Olopade, Janet E Olson, Håkan Olsson, Nick Orr, Sue K Park, Paolo Peterlongo, Julian Peto, Dijana Plaseska-Karanfilska, Nadege Presneau, Brigitte Rack, Rohini Rau-Murthy, Gad Rennert, Hedy S Rennert, Valerie Rhenius, Atocha Romero, Matthias Ruebner, Emmanouil Saloustros, Rita K Schmutzler, Andreas Schneeweiss, Christopher Scott, Mitul Shah, Chen-Yang Shen, Xiao-Ou Shu, Jacques Simard, Christof Sohn, Melissa C Southey, John J Spinelli, Rulla M Tamimi, William J Tapper, Soo H Teo, Mary Beth Terry, Diana Torres, Thérèse Truong, Michael Untch, Celine M Vachon, Christi J van Asperen, Alicja Wolk, Taiki Yamaji, Wei Zheng, Argyrios Ziogas, Elad Ziv, Gabriela Torres-Mejía, Thilo Dörk, Anthony J Swerdlow, Ute Hamann, Marjanka K Schmidt, Alison M Dunning, Paul D P Pharoah, Douglas F Easton, Maartje J Hooning, John W M Martens, Antoinette Hollestelle
In breast cancer, high levels of homeobox protein Hox-B13 (HOXB13) have been associated with disease progression of ER-positive breast cancer patients and resistance to tamoxifen treatment. Since HOXB13 p.G84E is a prostate cancer risk allele, we evaluated the association between HOXB13 germline mutations and breast cancer risk in a previous study consisting of 3,270 familial non-BRCA1/2 breast cancer cases and 2,327 controls from the Netherlands. Although both recurrent HOXB13 mutations p.G84E and p.R217C were not associated with breast cancer risk, the risk estimation for p...
June 16, 2020: Scientific Reports
https://read.qxmd.com/read/32424353/genome-wide-association-study-identifies-32-novel-breast-cancer-susceptibility-loci-from-overall-and-subtype-specific-analyses
#37
JOURNAL ARTICLE
Haoyu Zhang, Thomas U Ahearn, Julie Lecarpentier, Daniel Barnes, Jonathan Beesley, Guanghao Qi, Xia Jiang, Tracy A O'Mara, Ni Zhao, Manjeet K Bolla, Alison M Dunning, Joe Dennis, Qin Wang, Zumuruda Abu Ful, Kristiina Aittomäki, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Kristan J Aronson, Banu K Arun, Paul L Auer, Jacopo Azzollini, Daniel Barrowdale, Heiko Becher, Matthias W Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, Katarzyna Bialkowska, Ana Blanco, Carl Blomqvist, Natalia V Bogdanova, Stig E Bojesen, Bernardo Bonanni, Davide Bondavalli, Ake Borg, Hiltrud Brauch, Hermann Brenner, Ignacio Briceno, Annegien Broeks, Sara Y Brucker, Thomas Brüning, Barbara Burwinkel, Saundra S Buys, Helen Byers, Trinidad Caldés, Maria A Caligo, Mariarosaria Calvello, Daniele Campa, Jose E Castelao, Jenny Chang-Claude, Stephen J Chanock, Melissa Christiaens, Hans Christiansen, Wendy K Chung, Kathleen B M Claes, Christine L Clarke, Sten Cornelissen, Fergus J Couch, Angela Cox, Simon S Cross, Kamila Czene, Mary B Daly, Peter Devilee, Orland Diez, Susan M Domchek, Thilo Dörk, Miriam Dwek, Diana M Eccles, Arif B Ekici, D Gareth Evans, Peter A Fasching, Jonine Figueroa, Lenka Foretova, Florentia Fostira, Eitan Friedman, Debra Frost, Manuela Gago-Dominguez, Susan M Gapstur, Judy Garber, José A García-Sáenz, Mia M Gaudet, Simon A Gayther, Graham G Giles, Andrew K Godwin, Mark S Goldberg, David E Goldgar, Anna González-Neira, Mark H Greene, Jacek Gronwald, Pascal Guénel, Lothar Häberle, Eric Hahnen, Christopher A Haiman, Christopher R Hake, Per Hall, Ute Hamann, Elaine F Harkness, Bernadette A M Heemskerk-Gerritsen, Peter Hillemanns, Frans B L Hogervorst, Bernd Holleczek, Antoinette Hollestelle, Maartje J Hooning, Robert N Hoover, John L Hopper, Anthony Howell, Hanna Huebner, Peter J Hulick, Evgeny N Imyanitov, Claudine Isaacs, Louise Izatt, Agnes Jager, Milena Jakimovska, Anna Jakubowska, Paul James, Ramunas Janavicius, Wolfgang Janni, Esther M John, Michael E Jones, Audrey Jung, Rudolf Kaaks, Pooja Middha Kapoor, Beth Y Karlan, Renske Keeman, Sofia Khan, Elza Khusnutdinova, Cari M Kitahara, Yon-Dschun Ko, Irene Konstantopoulou, Linetta B Koppert, Stella Koutros, Vessela N Kristensen, Anne-Vibeke Laenkholm, Diether Lambrechts, Susanna C Larsson, Pierre Laurent-Puig, Conxi Lazaro, Emilija Lazarova, Flavio Lejbkowicz, Goska Leslie, Fabienne Lesueur, Annika Lindblom, Jolanta Lissowska, Wing-Yee Lo, Jennifer T Loud, Jan Lubinski, Alicja Lukomska, Robert J MacInnis, Arto Mannermaa, Mehdi Manoochehri, Siranoush Manoukian, Sara Margolin, Maria Elena Martinez, Laura Matricardi, Lesley McGuffog, Catriona McLean, Noura Mebirouk, Alfons Meindl, Usha Menon, Austin Miller, Elvira Mingazheva, Marco Montagna, Anna Marie Mulligan, Claire Mulot, Taru A Muranen, Katherine L Nathanson, Susan L Neuhausen, Heli Nevanlinna, Patrick Neven, William G Newman, Finn C Nielsen, Liene Nikitina-Zake, Jesse Nodora, Kenneth Offit, Edith Olah, Olufunmilayo I Olopade, Håkan Olsson, Nick Orr, Laura Papi, Janos Papp, Tjoung-Won Park-Simon, Michael T Parsons, Bernard Peissel, Ana Peixoto, Beth Peshkin, Paolo Peterlongo, Julian Peto, Kelly-Anne Phillips, Marion Piedmonte, Dijana Plaseska-Karanfilska, Karolina Prajzendanc, Ross Prentice, Darya Prokofyeva, Brigitte Rack, Paolo Radice, Susan J Ramus, Johanna Rantala, Muhammad U Rashid, Gad Rennert, Hedy S Rennert, Harvey A Risch, Atocha Romero, Matti A Rookus, Matthias Rübner, Thomas Rüdiger, Emmanouil Saloustros, Sarah Sampson, Dale P Sandler, Elinor J Sawyer, Maren T Scheuner, Rita K Schmutzler, Andreas Schneeweiss, Minouk J Schoemaker, Ben Schöttker, Peter Schürmann, Leigha Senter, Priyanka Sharma, Mark E Sherman, Xiao-Ou Shu, Christian F Singer, Snezhana Smichkoska, Penny Soucy, Melissa C Southey, John J Spinelli, Jennifer Stone, Dominique Stoppa-Lyonnet, Anthony J Swerdlow, Csilla I Szabo, Rulla M Tamimi, William J Tapper, Jack A Taylor, Manuel R Teixeira, MaryBeth Terry, Mads Thomassen, Darcy L Thull, Marc Tischkowitz, Amanda E Toland, Rob A E M Tollenaar, Ian Tomlinson, Diana Torres, Melissa A Troester, Thérèse Truong, Nadine Tung, Michael Untch, Celine M Vachon, Ans M W van den Ouweland, Lizet E van der Kolk, Elke M van Veen, Elizabeth J vanRensburg, Ana Vega, Barbara Wappenschmidt, Clarice R Weinberg, Jeffrey N Weitzel, Hans Wildiers, Robert Winqvist, Alicja Wolk, Xiaohong R Yang, Drakoulis Yannoukakos, Wei Zheng, Kristin K Zorn, Roger L Milne, Peter Kraft, Jacques Simard, Paul D P Pharoah, Kyriaki Michailidou, Antonis C Antoniou, Marjanka K Schmidt, Georgia Chenevix-Trench, Douglas F Easton, Nilanjan Chatterjee, Montserrat García-Closas
Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype1-3 . To identify novel loci, we performed a genome-wide association study including 133,384 breast cancer cases and 113,789 controls, plus 18,908 BRCA1 mutation carriers (9,414 with breast cancer) of European ancestry, using both standard and novel methodologies that account for underlying tumor heterogeneity by estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 status and tumor grade...
June 2020: Nature Genetics
https://read.qxmd.com/read/32359158/combined-associations-of-a-polygenic-risk-score-and-classical-risk-factors-with-breast-cancer-risk
#38
JOURNAL ARTICLE
Pooja Middha Kapoor, Nasim Mavaddat, Parichoy Pal Choudhury, Amber N Wilcox, Sara Lindström, Sabine Behrens, Kyriaki Michailidou, Joe Dennis, Manjeet K Bolla, Qin Wang, Audrey Jung, Zomoroda Abu-Ful, Thomas Ahearn, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Kristan J Aronson, Paul L Auer, Laura E Beane Freeman, Heiko Becher, Matthias W Beckmann, Alicia Beeghly-Fadiel, Javier Benitez, Leslie Bernstein, Stig E Bojesen, Hiltrud Brauch, Hermann Brenner, Thomas Brüning, Qiuyin Cai, Daniele Campa, Federico Canzian, Angel Carracedo, Brian D Carter, Jose E Castelao, Stephen J Chanock, Nilanjan Chatterjee, Georgia Chenevix-Trench, Christine L Clarke, Fergus J Couch, Angela Cox, Simon S Cross, Kamila Czene, James Y Dai, H Shelton Earp, Arif B Ekici, A Heather Eliassen, Mikael Eriksson, D Gareth Evans, Peter A Fasching, Jonine Figueroa, Lin Fritschi, Marike Gabrielson, Manuela Gago-Dominguez, Chi Gao, Susan M Gapstur, Mia M Gaudet, Graham G Giles, Anna González-Neira, Pascal Guénel, Lothar Haeberle, Christopher A Haiman, Niclas Håkansson, Per Hall, Ute Hamann, Sigrid Hatse, Jane Heyworth, Bernd Holleczek, Robert N Hoover, John L Hopper, Anthony Howell, David J Hunter, Esther M John, Michael E Jones, Rudolf Kaaks, Renske Keeman, Cari M Kitahara, Yon-Dschun Ko, Stella Koutros, Allison W Kurian, Diether Lambrechts, Loic Le Marchand, Eunjung Lee, Flavio Lejbkowicz, Martha Linet, Jolanta Lissowska, Ana Llaneza, Robert J MacInnis, Maria Elena Martinez, Tabea Maurer, Catriona McLean, Susan L Neuhausen, William G Newman, Aaron Norman, Katie M O'Brien, Andrew F Olshan, Janet E Olson, Håkan Olsson, Nick Orr, Charles M Perou, Guillermo Pita, Eric C Polley, Ross L Prentice, Gad Rennert, Hedy S Rennert, Kathryn J Ruddy, Dale P Sandler, Christobel Saunders, Minouk J Schoemaker, Ben Schöttker, Fredrick Schumacher, Christopher Scott, Rodney J Scott, Xiao-Ou Shu, Ann Smeets, Melissa C Southey, John J Spinelli, Jennifer Stone, Anthony J Swerdlow, Rulla M Tamimi, Jack A Taylor, Melissa A Troester, Celine M Vachon, Elke M van Veen, Xiaoliang Wang, Clarice R Weinberg, Caroline Weltens, Walter Willett, Stacey J Winham, Alicja Wolk, Xiaohong R Yang, Wei Zheng, Argyrios Ziogas, Alison M Dunning, Paul D P Pharoah, Marjanka K Schmidt, Peter Kraft, Douglas F Easton, Roger L Milne, Montserrat García-Closas, Jenny Chang-Claude
We evaluated the joint associations between a new 313-variant PRS (PRS313) and questionnaire-based breast cancer risk factors for women of European ancestry, using 72 284 cases and 80 354 controls from the Breast Cancer Association Consortium. Interactions were evaluated using standard logistic regression and a newly developed case-only method for breast cancer risk overall and by estrogen receptor status. After accounting for multiple testing, we did not find evidence that per-standard deviation PRS313 odds ratio differed across strata defined by individual risk factors...
March 1, 2021: Journal of the National Cancer Institute
https://read.qxmd.com/read/32115800/transcriptome-wide-association-study-of-breast-cancer-risk-by-estrogen-receptor-status
#39
JOURNAL ARTICLE
Helian Feng, Alexander Gusev, Bogdan Pasaniuc, Lang Wu, Jirong Long, Zomoroda Abu-Full, Kristiina Aittomäki, Irene L Andrulis, Hoda Anton-Culver, Antonis C Antoniou, Adalgeir Arason, Volker Arndt, Kristan J Aronson, Banu K Arun, Ella Asseryanis, Paul L Auer, Jacopo Azzollini, Judith Balmaña, Rosa B Barkardottir, Daniel R Barnes, Daniel Barrowdale, Matthias W Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, Katarzyna Białkowska, Ana Blanco, Carl Blomqvist, Bram Boeckx, Natalia V Bogdanova, Stig E Bojesen, Manjeet K Bolla, Bernardo Bonanni, Ake Borg, Hiltrud Brauch, Hermann Brenner, Ignacio Briceno, Annegien Broeks, Thomas Brüning, Barbara Burwinkel, Qiuyin Cai, Trinidad Caldés, Maria A Caligo, Ian Campbell, Sander Canisius, Daniele Campa, Brian D Carter, Jonathan Carter, Jose E Castelao, Jenny Chang-Claude, Stephen J Chanock, Hans Christiansen, Wendy K Chung, Kathleen B M Claes, Christine L Clarke, Fergus J Couch, Angela Cox, Simon S Cross, Cezary Cybulski, Kamila Czene, Mary B Daly, Miguel de la Hoya, Kim De Leeneer, Joe Dennis, Peter Devilee, Orland Diez, Susan M Domchek, Thilo Dörk, Isabel Dos-Santos-Silva, Alison M Dunning, Miriam Dwek, Diana M Eccles, Bent Ejlertsen, Carolina Ellberg, Christoph Engel, Mikael Eriksson, Peter A Fasching, Olivia Fletcher, Henrik Flyger, Florentia Fostira, Eitan Friedman, Lin Fritschi, Debra Frost, Marike Gabrielson, Patricia A Ganz, Susan M Gapstur, Judy Garber, Montserrat García-Closas, José A García-Sáenz, Mia M Gaudet, Graham G Giles, Gord Glendon, Andrew K Godwin, Mark S Goldberg, David E Goldgar, Anna González-Neira, Mark H Greene, Jacek Gronwald, Pascal Guénel, Christopher A Haiman, Per Hall, Ute Hamann, Christopher Hake, Wei He, Jane Heyworth, Frans B L Hogervorst, Antoinette Hollestelle, Maartje J Hooning, Robert N Hoover, John L Hopper, Guanmengqian Huang, Peter J Hulick, Keith Humphreys, Evgeny N Imyanitov, Claudine Isaacs, Milena Jakimovska, Anna Jakubowska, Paul James, Ramunas Janavicius, Rachel C Jankowitz, Esther M John, Nichola Johnson, Vijai Joseph, Audrey Jung, Beth Y Karlan, Elza Khusnutdinova, Johanna I Kiiski, Irene Konstantopoulou, Vessela N Kristensen, Yael Laitman, Diether Lambrechts, Conxi Lazaro, Dominique Leroux, Goska Leslie, Jenny Lester, Fabienne Lesueur, Noralane Lindor, Sara Lindström, Wing-Yee Lo, Jennifer T Loud, Jan Lubiński, Enes Makalic, Arto Mannermaa, Mehdi Manoochehri, Siranoush Manoukian, Sara Margolin, John W M Martens, Maria E Martinez, Laura Matricardi, Tabea Maurer, Dimitrios Mavroudis, Lesley McGuffog, Alfons Meindl, Usha Menon, Kyriaki Michailidou, Pooja M Kapoor, Austin Miller, Marco Montagna, Fernando Moreno, Lidia Moserle, Anna M Mulligan, Taru A Muranen, Katherine L Nathanson, Susan L Neuhausen, Heli Nevanlinna, Ines Nevelsteen, Finn C Nielsen, Liene Nikitina-Zake, Kenneth Offit, Edith Olah, Olufunmilayo I Olopade, Håkan Olsson, Ana Osorio, Janos Papp, Tjoung-Won Park-Simon, Michael T Parsons, Inge S Pedersen, Ana Peixoto, Paolo Peterlongo, Julian Peto, Paul D P Pharoah, Kelly-Anne Phillips, Dijana Plaseska-Karanfilska, Bruce Poppe, Nisha Pradhan, Karolina Prajzendanc, Nadege Presneau, Kevin Punie, Katri Pylkäs, Paolo Radice, Johanna Rantala, Muhammad Usman Rashid, Gad Rennert, Harvey A Risch, Mark Robson, Atocha Romero, Emmanouil Saloustros, Dale P Sandler, Catarina Santos, Elinor J Sawyer, Marjanka K Schmidt, Daniel F Schmidt, Rita K Schmutzler, Minouk J Schoemaker, Rodney J Scott, Priyanka Sharma, Xiao-Ou Shu, Jacques Simard, Christian F Singer, Anne-Bine Skytte, Penny Soucy, Melissa C Southey, John J Spinelli, Amanda B Spurdle, Jennifer Stone, Anthony J Swerdlow, William J Tapper, Jack A Taylor, Manuel R Teixeira, Mary Beth Terry, Alex Teulé, Mads Thomassen, Kathrin Thöne, Darcy L Thull, Marc Tischkowitz, Amanda E Toland, Rob A E M Tollenaar, Diana Torres, Thérèse Truong, Nadine Tung, Celine M Vachon, Christi J van Asperen, Ans M W van den Ouweland, Elizabeth J van Rensburg, Ana Vega, Alessandra Viel, Paula Vieiro-Balo, Qin Wang, Barbara Wappenschmidt, Clarice R Weinberg, Jeffrey N Weitzel, Camilla Wendt, Robert Winqvist, Xiaohong R Yang, Drakoulis Yannoukakos, Argyrios Ziogas, Roger L Milne, Douglas F Easton, Georgia Chenevix-Trench, Wei Zheng, Peter Kraft, Xia Jiang
Previous transcriptome-wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expression quantitative loci and genome-wide association studies (GWAS), but analyses of breast cancer subtype-specific associations have been limited. In this study, we conducted a TWAS using gene expression data from GTEx and summary statistics from the hitherto largest GWAS meta-analysis conducted for breast cancer overall, and by estrogen receptor subtypes (ER+ and ER-). We further compared associations with ER+ and ER- subtypes, using a case-only TWAS approach...
March 1, 2020: Genetic Epidemiology
https://read.qxmd.com/read/31919418/genome-wide-association-and-mendelian-randomisation-analysis-provide-insights-into-the-pathogenesis-of-heart-failure
#40
JOURNAL ARTICLE
Sonia Shah, Albert Henry, Carolina Roselli, Honghuang Lin, Garðar Sveinbjörnsson, Ghazaleh Fatemifar, Åsa K Hedman, Jemma B Wilk, Michael P Morley, Mark D Chaffin, Anna Helgadottir, Niek Verweij, Abbas Dehghan, Peter Almgren, Charlotte Andersson, Krishna G Aragam, Johan Ärnlöv, Joshua D Backman, Mary L Biggs, Heather L Bloom, Jeffrey Brandimarto, Michael R Brown, Leonard Buckbinder, David J Carey, Daniel I Chasman, Xing Chen, Xu Chen, Jonathan Chung, William Chutkow, James P Cook, Graciela E Delgado, Spiros Denaxas, Alexander S Doney, Marcus Dörr, Samuel C Dudley, Michael E Dunn, Gunnar Engström, Tõnu Esko, Stephan B Felix, Chris Finan, Ian Ford, Mohsen Ghanbari, Sahar Ghasemi, Vilmantas Giedraitis, Franco Giulianini, John S Gottdiener, Stefan Gross, Daníel F Guðbjartsson, Rebecca Gutmann, Christopher M Haggerty, Pim van der Harst, Craig L Hyde, Erik Ingelsson, J Wouter Jukema, Maryam Kavousi, Kay-Tee Khaw, Marcus E Kleber, Lars Køber, Andrea Koekemoer, Claudia Langenberg, Lars Lind, Cecilia M Lindgren, Barry London, Luca A Lotta, Ruth C Lovering, Jian'an Luan, Patrik Magnusson, Anubha Mahajan, Kenneth B Margulies, Winfried März, Olle Melander, Ify R Mordi, Thomas Morgan, Andrew D Morris, Andrew P Morris, Alanna C Morrison, Michael W Nagle, Christopher P Nelson, Alexander Niessner, Teemu Niiranen, Michelle L O'Donoghue, Anjali T Owens, Colin N A Palmer, Helen M Parry, Markus Perola, Eliana Portilla-Fernandez, Bruce M Psaty, Kenneth M Rice, Paul M Ridker, Simon P R Romaine, Jerome I Rotter, Perttu Salo, Veikko Salomaa, Jessica van Setten, Alaa A Shalaby, Diane T Smelser, Nicholas L Smith, Steen Stender, David J Stott, Per Svensson, Mari-Liis Tammesoo, Kent D Taylor, Maris Teder-Laving, Alexander Teumer, Guðmundur Thorgeirsson, Unnur Thorsteinsdottir, Christian Torp-Pedersen, Stella Trompet, Benoit Tyl, Andre G Uitterlinden, Abirami Veluchamy, Uwe Völker, Adriaan A Voors, Xiaosong Wang, Nicholas J Wareham, Dawn Waterworth, Peter E Weeke, Raul Weiss, Kerri L Wiggins, Heming Xing, Laura M Yerges-Armstrong, Bing Yu, Faiez Zannad, Jing Hua Zhao, Harry Hemingway, Nilesh J Samani, John J V McMurray, Jian Yang, Peter M Visscher, Christopher Newton-Cheh, Anders Malarstig, Hilma Holm, Steven A Lubitz, Naveed Sattar, Michael V Holmes, Thomas P Cappola, Folkert W Asselbergs, Aroon D Hingorani, Karoline Kuchenbaecker, Patrick T Ellinor, Chim C Lang, Kari Stefansson, J Gustav Smith, Ramachandran S Vasan, Daniel I Swerdlow, R Thomas Lumbers
Heart failure (HF) is a leading cause of morbidity and mortality worldwide. A small proportion of HF cases are attributable to monogenic cardiomyopathies and existing genome-wide association studies (GWAS) have yielded only limited insights, leaving the observed heritability of HF largely unexplained. We report results from a GWAS meta-analysis of HF comprising 47,309 cases and 930,014 controls. Twelve independent variants at 11 genomic loci are associated with HF, all of which demonstrate one or more associations with coronary artery disease (CAD), atrial fibrillation, or reduced left ventricular function, suggesting shared genetic aetiology...
January 9, 2020: Nature Communications
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