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https://www.readbyqxmd.com/read/27926742/modeling-deficits-from-early-auditory-information-processing-to-psychosocial-functioning-in-schizophrenia
#1
Michael L Thomas, Michael F Green, Gerhard Hellemann, Catherine A Sugar, Melissa Tarasenko, Monica E Calkins, Tiffany A Greenwood, Raquel E Gur, Ruben C Gur, Laura C Lazzeroni, Keith H Nuechterlein, Allen D Radant, Larry J Seidman, Alexandra L Shiluk, Larry J Siever, Jeremy M Silverman, Joyce Sprock, William S Stone, Neal R Swerdlow, Debby W Tsuang, Ming T Tsuang, Bruce I Turetsky, David L Braff, Gregory A Light
Importance: Neurophysiologic measures of early auditory information processing (EAP) are used as endophenotypes in genomic studies and biomarkers in clinical intervention studies. Research in schizophrenia has established correlations among measures of EAP, cognition, clinical symptoms, and functional outcome. Clarifying these associations by determining the pathways through which deficits in EAP affect functioning would suggest when and where to therapeutically intervene. Objectives: To characterize the pathways from EAP to outcome and to estimate the extent to which enhancement of basic information processing might improve cognition and psychosocial functioning in schizophrenia...
December 7, 2016: JAMA Psychiatry
https://www.readbyqxmd.com/read/27908689/pcsk9-genetic-variants-and-risk-of-type-2-diabetes-a-mendelian-randomisation-study
#2
Amand F Schmidt, Daniel I Swerdlow, Michael V Holmes, Riyaz S Patel, Zammy Fairhurst-Hunter, Donald M Lyall, Fernando Pires Hartwig, Bernardo Lessa Horta, Elina Hyppönen, Christine Power, Max Moldovan, Erik van Iperen, G Kees Hovingh, Ilja Demuth, Kristina Norman, Elisabeth Steinhagen-Thiessen, Juri Demuth, Lars Bertram, Tian Liu, Stefan Coassin, Johann Willeit, Stefan Kiechl, Karin Willeit, Dan Mason, John Wright, Richard Morris, Goya Wanamethee, Peter Whincup, Yoav Ben-Shlomo, Stela McLachlan, Jackie F Price, Mika Kivimaki, Catherine Welch, Adelaida Sanchez-Galvez, Pedro Marques-Vidal, Andrew Nicolaides, Andrie G Panayiotou, N Charlotte Onland-Moret, Yvonne T van der Schouw, Giuseppe Matullo, Giovanni Fiorito, Simonetta Guarrera, Carlotta Sacerdote, Nicholas J Wareham, Claudia Langenberg, Robert Scott, Jian'an Luan, Martin Bobak, Sofia Malyutina, Andrzej Pająk, Ruzena Kubinova, Abdonas Tamosiunas, Hynek Pikhart, Lise Lotte Nystrup Husemoen, Niels Grarup, Oluf Pedersen, Torben Hansen, Allan Linneberg, Kenneth Starup Simonsen, Jackie Cooper, Steve E Humphries, Murray Brilliant, Terrie Kitchner, Hakon Hakonarson, David S Carrell, Catherine A McCarty, H Lester Kirchner, Eric B Larson, David R Crosslin, Mariza de Andrade, Dan M Roden, Joshua C Denny, Cara Carty, Stephen Hancock, John Attia, Elizabeth Holliday, Martin O' Donnell, Salim Yusuf, Michael Chong, Guillaume Pare, Pim van der Harst, M Abdullah Said, Ruben N Eppinga, Niek Verweij, Harold Snieder, Tim Christen, Dennis O Mook-Kanamori, Stefan Gustafsson, Lars Lind, Erik Ingelsson, Raha Pazoki, Oscar Franco, Albert Hofman, Andre Uitterlinden, Abbas Dehghan, Alexander Teumer, Sebastian Baumeister, Marcus Dörr, Markus M Lerch, Uwe Völker, Henry Völzke, Joey Ward, Jill P Pell, Daniel J Smith, Tom Meade, Anke H Maitland-van der Zee, Ekaterina V Baranova, Robin Young, Ian Ford, Archie Campbell, Sandosh Padmanabhan, Michiel L Bots, Diederick E Grobbee, Philippe Froguel, Dorothée Thuillier, Beverley Balkau, Amélie Bonnefond, Bertrand Cariou, Melissa Smart, Yanchun Bao, Meena Kumari, Anubha Mahajan, Paul M Ridker, Daniel I Chasman, Alex P Reiner, Leslie A Lange, Marylyn D Ritchie, Folkert W Asselbergs, Juan-Pablo Casas, Brendan J Keating, David Preiss, Aroon D Hingorani, Naveed Sattar
BACKGROUND: Statin treatment and variants in the gene encoding HMG-CoA reductase are associated with reductions in both the concentration of LDL cholesterol and the risk of coronary heart disease, but also with modest hyperglycaemia, increased bodyweight, and modestly increased risk of type 2 diabetes, which in no way offsets their substantial benefits. We sought to investigate the associations of LDL cholesterol-lowering PCSK9 variants with type 2 diabetes and related biomarkers to gauge the likely effects of PCSK9 inhibitors on diabetes risk...
November 28, 2016: Lancet Diabetes & Endocrinology
https://www.readbyqxmd.com/read/27845421/rs2735383-located-at-a-microrna-binding-site-in-the-3-utr-of-nbs1-is-not-associated-with-breast-cancer-risk
#3
Jingjing Liu, Ivona Lončar, J Margriet Collée, Manjeet K Bolla, Joe Dennis, Kyriaki Michailidou, Qin Wang, Irene L Andrulis, Monica Barile, Matthias W Beckmann, Sabine Behrens, Javier Benitez, Carl Blomqvist, Bram Boeckx, Natalia V Bogdanova, Stig E Bojesen, Hiltrud Brauch, Paul Brennan, Hermann Brenner, Annegien Broeks, Barbara Burwinkel, Jenny Chang-Claude, Shou-Tung Chen, Georgia Chenevix-Trench, Ching Y Cheng, Ji-Yeob Choi, Fergus J Couch, Angela Cox, Simon S Cross, Katarina Cuk, Kamila Czene, Thilo Dörk, Isabel Dos-Santos-Silva, Peter A Fasching, Jonine Figueroa, Henrik Flyger, Montserrat García-Closas, Graham G Giles, Gord Glendon, Mark S Goldberg, Anna González-Neira, Pascal Guénel, Christopher A Haiman, Ute Hamann, Steven N Hart, Mikael Hartman, Sigrid Hatse, John L Hopper, Hidemi Ito, Anna Jakubowska, Maria Kabisch, Daehee Kang, Veli-Matti Kosma, Vessela N Kristensen, Loic Le Marchand, Eunjung Lee, Jingmei Li, Artitaya Lophatananon, Jan Lubinski, Arto Mannermaa, Keitaro Matsuo, Roger L Milne, Susan L Neuhausen, Heli Nevanlinna, Nick Orr, Jose I A Perez, Julian Peto, Thomas C Putti, Katri Pylkäs, Paolo Radice, Suleeporn Sangrajrang, Elinor J Sawyer, Marjanka K Schmidt, Andreas Schneeweiss, Chen-Yang Shen, Martha J Shrubsole, Xiao-Ou Shu, Jacques Simard, Melissa C Southey, Anthony Swerdlow, Soo H Teo, Daniel C Tessier, Somchai Thanasitthichai, Ian Tomlinson, Diana Torres, Thérèse Truong, Chiu-Chen Tseng, Celine Vachon, Robert Winqvist, Anna H Wu, Drakoulis Yannoukakos, Wei Zheng, Per Hall, Alison M Dunning, Douglas F Easton, Maartje J Hooning, Ans M W van den Ouweland, John W M Martens, Antoinette Hollestelle
NBS1, also known as NBN, plays an important role in maintaining genomic stability. Interestingly, rs2735383 G > C, located in a microRNA binding site in the 3'-untranslated region (UTR) of NBS1, was shown to be associated with increased susceptibility to lung and colorectal cancer. However, the relation between rs2735383 and susceptibility to breast cancer is not yet clear. Therefore, we genotyped rs2735383 in 1,170 familial non-BRCA1/2 breast cancer cases and 1,077 controls using PCR-based restriction fragment length polymorphism (RFLP-PCR) analysis, but found no association between rs2735383CC and breast cancer risk (OR = 1...
November 15, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27792995/association-of-breast-cancer-risk-with-genetic-variants-showing-differential-allelic-expression-identification-of-a-novel-breast-cancer-susceptibility-locus-at-4q21
#4
Yosr Hamdi, Penny Soucy, Véronique Adoue, Kyriaki Michailidou, Sander Canisius, Audrey Lemaçon, Arnaud Droit, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Caroline Baynes, Carl Blomqvist, Natalia V Bogdanova, Stig E Bojesen, Manjeet K Bolla, Bernardo Bonanni, Anne-Lise Borresen-Dale, Judith S Brand, Hiltrud Brauch, Hermann Brenner, Annegien Broeks, Barbara Burwinkel, Jenny Chang-Claude, Nbcs Collaborators, Fergus J Couch, Angela Cox, Simon S Cross, Kamila Czene, Hatef Darabi, Joe Dennis, Peter Devilee, Thilo Dörk, Isabel Dos-Santos-Silva, Mikael Eriksson, Peter A Fasching, Jonine Figueroa, Henrik Flyger, Montserrat García-Closas, Graham G Giles, Mark S Goldberg, Anna González-Neira, Grethe Grenaker-Alnæs, Pascal Guénel, Lothar Haeberle, Christopher A Haiman, Ute Hamann, Emily Hallberg, Maartje J Hooning, John L Hopper, Anna Jakubowska, Michael Jones, Maria Kabisch, Vesa Kataja, Diether Lambrechts, Loic Le Marchand, Annika Lindblom, Jan Lubinski, Arto Mannermaa, Mel Maranian, Sara Margolin, Frederik Marme, Roger L Milne, Susan L Neuhausen, Heli Nevanlinna, Patrick Neven, Curtis Olswold, Julian Peto, Dijana Plaseska-Karanfilska, Katri Pylkäs, Paolo Radice, Anja Rudolph, Elinor J Sawyer, Marjanka K Schmidt, Xiao-Ou Shu, Melissa C Southey, Anthony Swerdlow, Rob A E M Tollenaar, Ian Tomlinson, Diana Torres, Thérèse Truong, Celine Vachon, Ans M W Van Den Ouweland, Qin Wang, Robert Winqvist, kConFab/Aocs Investigators, Wei Zheng, Javier Benitez, Georgia Chenevix-Trench, Alison M Dunning, Paul D P Pharoah, Vessela Kristensen, Per Hall, Douglas F Easton, Tomi Pastinen, Silje Nord, Jacques Simard
There are significant inter-individual differences in the levels of gene expression. Through modulation of gene expression, cis-acting variants represent an important source of phenotypic variation. Consequently, cis-regulatory SNPs associated with differential allelic expression are functional candidates for further investigation as disease-causing variants. To investigate whether common variants associated with differential allelic expression were involved in breast cancer susceptibility, a list of genes was established on the basis of their involvement in cancer related pathways and/or mechanisms...
October 21, 2016: Oncotarget
https://www.readbyqxmd.com/read/27767011/risk-factors-for-middle-east-respiratory-syndrome-coronavirus-infection-among-healthcare-personnel
#5
Basem M Alraddadi, Hanadi S Al-Salmi, Kara Jacobs-Slifka, Rachel B Slayton, Concepcion F Estivariz, Andrew I Geller, Hanan H Al-Turkistani, Sanaa S Al-Rehily, Haleema A Alserehi, Ghassan Y Wali, Abeer N Alshukairi, Esam I Azhar, Lia Haynes, David L Swerdlow, John A Jernigan, Tariq A Madani
Healthcare settings can amplify transmission of Middle East respiratory syndrome coronavirus (MERS-CoV), but knowledge gaps about the epidemiology of transmission remain. We conducted a retrospective cohort study among healthcare personnel in hospital units that treated MERS-CoV patients. Participants were interviewed about exposures to MERS-CoV patients, use of personal protective equipment, and signs and symptoms of illness after exposure. Infection status was determined by the presence of antibodies against MERS-CoV...
November 2016: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/27761170/erratum-to-2015-hrs-ehra-aphrs-solaece-expert-consensus-statement-on-optimal-implantable-cardioverter-de%C3%AF-brillator-programming-and-testing-journal-of-arrhythmia-32-1-2016-1-28
#6
Bruce L Wilkoff, Laurent Fauchier, Martin K Stiles, Carlos A Morillo, Sana M Al-Khatib, Jesœs Almendral, Luis Aguinaga, Ronald D Berger, Alejandro Cuesta, James P Daubert, Sergio Dubner, Kenneth A Ellenbogen, N A Mark Estes, Guilherme Fenelon, Fermin C Garcia, Maurizio Gasparini, David E Haines, Jeff S Healey, Jodie L Hurtwitz, Roberto Keegan, Christof Kolb, Karl-Heinz Kuck, Germanas Marinskis, Martino Martinelli, Mark McGuire, Luis G Molina, Ken Okumura, Alessandro Proclemer, Andrea M Russo, Jagmeet P Singh, Charles D Swerdlow, Wee Siong Teo, William Uribe, Sami Viskin, Chun-Chieh Wang, Shu Zhang
[This corrects the article DOI: 10.1016/j.joa.2015.12.001.].
October 2016: Journal of Arrhythmia
https://www.readbyqxmd.com/read/27711073/genetic-modifiers-of-chek2-1100delc-associated-breast-cancer-risk
#7
Taru A Muranen, Dario Greco, Carl Blomqvist, Kristiina Aittomäki, Sofia Khan, Frans Hogervorst, Senno Verhoef, Paul D P 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 W M 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
PURPOSE: CHEK2*1100delC is a founder variant in European populations that confers a two- to threefold increased risk of breast cancer (BC). Epidemiologic and family studies have suggested that the risk associated with CHEK2*1100delC is modified by other genetic factors in a multiplicative fashion. We have investigated this empirically using data from the Breast Cancer Association Consortium (BCAC). METHODS: Using genotype data from 39,139 (624 1100delC carriers) BC patients and 40,063 (224) healthy controls from 32 BCAC studies, we analyzed the combined risk effects of CHEK2*1100delC and 77 common variants in terms of a polygenic risk score (PRS) and pairwise interaction...
October 6, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27648640/estimation-of-severe-middle-east-respiratory-syndrome-cases-in-the-middle-east-2012-2016
#8
Justin J O'Hagan, Cristina Carias, Jessica M Rudd, Huong T Pham, Yonat Haber, Nicki Pesik, Martin S Cetron, Manoj Gambhir, Susan I Gerber, David L Swerdlow
Using data from travelers to 4 countries in the Middle East, we estimated 3,250 (95% CI 1,300-6,600) severe cases of Middle East respiratory syndrome occurred in this region during September 2012-January 2016. This number is 2.3-fold higher than the number of laboratory-confirmed cases recorded in these countries.
October 2016: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/27640304/evidence-that-the-5p12-variant-rs10941679-confers-susceptibility-to-estrogen-receptor-positive-breast-cancer-through-fgf10-and-mrps30-regulation
#9
Maya Ghoussaini, Juliet D French, Kyriaki Michailidou, Silje Nord, Jonathan Beesley, Sander Canisus, Kristine M Hillman, Susanne Kaufmann, Haran Sivakumaran, Mahdi Moradi Marjaneh, Jason S Lee, Joe Dennis, Manjeet K Bolla, Qin Wang, Ed Dicks, Roger L Milne, John L Hopper, Melissa C Southey, Marjanka K Schmidt, Annegien Broeks, Kenneth Muir, Artitaya Lophatananon, Peter A Fasching, Matthias W Beckmann, Olivia Fletcher, Nichola Johnson, Elinor J Sawyer, Ian Tomlinson, Barbara Burwinkel, Frederik Marme, Pascal Guénel, Thérèse Truong, Stig E Bojesen, Henrik Flyger, Javier Benitez, Anna González-Neira, M Rosario Alonso, Guillermo Pita, Susan L Neuhausen, Hoda Anton-Culver, Hermann Brenner, Volker Arndt, Alfons Meindl, Rita K Schmutzler, Hiltrud Brauch, Ute Hamann, Daniel C Tessier, Daniel Vincent, Heli Nevanlinna, Sofia Khan, Keitaro Matsuo, Hidemi Ito, Thilo Dörk, Natalia V Bogdanova, Annika Lindblom, Sara Margolin, Arto Mannermaa, Veli-Matti Kosma, Anna H Wu, David Van Den Berg, Diether Lambrechts, Giuseppe Floris, Jenny Chang-Claude, Anja Rudolph, Paolo Radice, Monica Barile, Fergus J Couch, Emily Hallberg, Graham G Giles, Christopher A Haiman, Loic Le Marchand, Mark S Goldberg, Soo H Teo, Cheng Har Yip, Anne-Lise Borresen-Dale, Wei Zheng, Qiuyin Cai, Robert Winqvist, Katri Pylkäs, Irene L Andrulis, Peter Devilee, Rob A E M Tollenaar, Montserrat García-Closas, Jonine Figueroa, Per Hall, Kamila Czene, Judith S Brand, Hatef Darabi, Mikael Eriksson, Maartje J Hooning, Linetta B Koppert, Jingmei Li, Xiao-Ou Shu, Ying Zheng, Angela Cox, Simon S Cross, Mitul Shah, Valerie Rhenius, Ji-Yeob Choi, Daehee Kang, Mikael Hartman, Kee Seng Chia, Maria Kabisch, Diana Torres, Craig Luccarini, Don M Conroy, Anna Jakubowska, Jan Lubinski, Suleeporn Sangrajrang, Paul Brennan, Curtis Olswold, Susan Slager, Chen-Yang Shen, Ming-Feng Hou, Anthony Swerdlow, Minouk J Schoemaker, Jacques Simard, Paul D P Pharoah, Vessela Kristensen, Georgia Chenevix-Trench, Douglas F Easton, Alison M Dunning, Stacey L Edwards
Genome-wide association studies (GWASs) have revealed increased breast cancer risk associated with multiple genetic variants at 5p12. Here, we report the fine mapping of this locus using data from 104,660 subjects from 50 case-control studies in the Breast Cancer Association Consortium (BCAC). With data for 3,365 genotyped and imputed SNPs across a 1 Mb region (positions 44,394,495-45,364,167; NCBI build 37), we found evidence for at least three independent signals: the strongest signal, consisting of a single SNP rs10941679, was associated with risk of estrogen-receptor-positive (ER(+)) breast cancer (per-g allele OR ER(+) = 1...
October 6, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27614355/length-of-fmr1-repeat-alleles-within-the-normal-range-does-not-substantially-affect-the-risk-of-early-menopause
#10
Katherine S Ruth, Claire E Bennett, Minouk J Schoemaker, Michael N Weedon, Anthony J Swerdlow, Anna Murray
STUDY QUESTION: Is the length of FMR1 repeat alleles within the normal range associated with the risk of early menopause? SUMMARY ANSWER: The length of repeat alleles within the normal range does not substantially affect risk of early menopause. WHAT IS KNOWN ALREADY: There is a strong, well-established relationship between length of premutation FMR1 alleles and age at menopause, suggesting that this relationship could continue into the normal range...
October 2016: Human Reproduction
https://www.readbyqxmd.com/read/27601076/functional-mechanisms-underlying-pleiotropic-risk-alleles-at-the-19p13-1-breast-ovarian-cancer-susceptibility-locus
#11
Kate Lawrenson, Siddhartha Kar, Karen McCue, Karoline Kuchenbaeker, Kyriaki Michailidou, Jonathan Tyrer, Jonathan Beesley, Susan J Ramus, Qiyuan Li, Melissa K Delgado, Janet M Lee, Kristiina Aittomäki, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Banu K Arun, Brita Arver, Elisa V Bandera, Monica Barile, Rosa B Barkardottir, Daniel Barrowdale, Matthias W Beckmann, Javier Benitez, Andrew Berchuck, Maria Bisogna, Line Bjorge, Carl Blomqvist, William Blot, Natalia Bogdanova, Anders Bojesen, Stig E Bojesen, Manjeet K Bolla, Bernardo Bonanni, Anne-Lise Børresen-Dale, Hiltrud Brauch, Paul Brennan, Hermann Brenner, Fiona Bruinsma, Joan Brunet, Shaik Ahmad Buhari, Barbara Burwinkel, Ralf Butzow, Saundra S Buys, Qiuyin Cai, Trinidad Caldes, Ian Campbell, Rikki Canniotto, Jenny Chang-Claude, Jocelyne Chiquette, Ji-Yeob Choi, Kathleen B M Claes, Linda S Cook, Angela Cox, Daniel W Cramer, Simon S Cross, Cezary Cybulski, Kamila Czene, Mary B Daly, Francesca Damiola, Agnieszka Dansonka-Mieszkowska, Hatef Darabi, Joe Dennis, Peter Devilee, Orland Diez, Jennifer A Doherty, Susan M Domchek, Cecilia M Dorfling, Thilo Dörk, Martine Dumont, Hans Ehrencrona, Bent Ejlertsen, Steve Ellis, Christoph Engel, Eunjung Lee, D Gareth Evans, Peter A Fasching, Lidia Feliubadalo, Jonine Figueroa, Dieter Flesch-Janys, Olivia Fletcher, Henrik Flyger, Lenka Foretova, Florentia Fostira, William D Foulkes, Brooke L Fridley, Eitan Friedman, Debra Frost, Gaetana Gambino, Patricia A Ganz, Judy Garber, Montserrat García-Closas, Aleksandra Gentry-Maharaj, Maya Ghoussaini, Graham G Giles, Rosalind Glasspool, Andrew K Godwin, Mark S Goldberg, David E Goldgar, Anna González-Neira, Ellen L Goode, Marc T Goodman, Mark H Greene, Jacek Gronwald, Pascal Guénel, Christopher A Haiman, Per Hall, Emily Hallberg, Ute Hamann, Thomas V O Hansen, Patricia A Harrington, Mikael Hartman, Norhashimah Hassan, Sue Healey, Florian Heitz, Josef Herzog, Estrid Høgdall, Claus K Høgdall, Frans B L Hogervorst, Antoinette Hollestelle, John L Hopper, Peter J Hulick, Tomasz Huzarski, Evgeny N Imyanitov, Claudine Isaacs, Hidemi Ito, Anna Jakubowska, Ramunas Janavicius, Allan Jensen, Esther M John, Nichola Johnson, Maria Kabisch, Daehee Kang, Miroslav Kapuscinski, Beth Y Karlan, Sofia Khan, Lambertus A Kiemeney, Susanne Kruger Kjaer, Julia A Knight, Irene Konstantopoulou, Veli-Matti Kosma, Vessela Kristensen, Jolanta Kupryjanczyk, Ava Kwong, Miguel de la Hoya, Yael Laitman, Diether Lambrechts, Nhu Le, Kim De Leeneer, Jenny Lester, Douglas A Levine, Jingmei Li, Annika Lindblom, Jirong Long, Artitaya Lophatananon, Jennifer T Loud, Karen Lu, Jan Lubinski, Arto Mannermaa, Siranoush Manoukian, Loic Le Marchand, Sara Margolin, Frederik Marme, Leon F A G Massuger, Keitaro Matsuo, Sylvie Mazoyer, Lesley McGuffog, Catriona McLean, Iain McNeish, Alfons Meindl, Usha Menon, Arjen R Mensenkamp, Roger L Milne, Marco Montagna, Kirsten B Moysich, Kenneth Muir, Anna Marie Mulligan, Katherine L Nathanson, Roberta B Ness, Susan L Neuhausen, Heli Nevanlinna, Silje Nord, Robert L Nussbaum, Kunle Odunsi, Kenneth Offit, Edith Olah, Olufunmilayo I Olopade, Janet E Olson, Curtis Olswold, David O'Malley, Irene Orlow, Nick Orr, Ana Osorio, Sue Kyung Park, Celeste L Pearce, Tanja Pejovic, Paolo Peterlongo, Georg Pfeiler, Catherine M Phelan, Elizabeth M Poole, Katri Pylkäs, Paolo Radice, Johanna Rantala, Muhammad Usman Rashid, Gad Rennert, Valerie Rhenius, Kerstin Rhiem, Harvey A Risch, Gus Rodriguez, Mary Anne Rossing, Anja Rudolph, Helga B Salvesen, Suleeporn Sangrajrang, Elinor J Sawyer, Joellen M Schildkraut, Marjanka K Schmidt, Rita K Schmutzler, Thomas A Sellers, Caroline Seynaeve, Mitul Shah, Chen-Yang Shen, Xiao-Ou Shu, Weiva Sieh, Christian F Singer, Olga M Sinilnikova, Susan Slager, Honglin Song, Penny Soucy, Melissa C Southey, Marie Stenmark-Askmalm, Dominique Stoppa-Lyonnet, Christian Sutter, Anthony Swerdlow, Sandrine Tchatchou, Manuel R Teixeira, Soo H Teo, Kathryn L Terry, Mary Beth Terry, Mads Thomassen, Maria Grazia Tibiletti, Laima Tihomirova, Silvia Tognazzo, Amanda Ewart Toland, Ian Tomlinson, Diana Torres, Thérèse Truong, Chiu-Chen Tseng, Nadine Tung, Shelley S Tworoger, Celine Vachon, Ans M W van den Ouweland, Helena C van Doorn, Elizabeth J van Rensburg, Laura J Van't Veer, Adriaan Vanderstichele, Ignace Vergote, Joseph Vijai, Qin Wang, Shan Wang-Gohrke, Jeffrey N Weitzel, Nicolas Wentzensen, Alice S Whittemore, Hans Wildiers, Robert Winqvist, Anna H Wu, Drakoulis Yannoukakos, Sook-Yee Yoon, Jyh-Cherng Yu, Wei Zheng, Ying Zheng, Kum Kum Khanna, Jacques Simard, Alvaro N Monteiro, Juliet D French, Fergus J Couch, Matthew L Freedman, Douglas F Easton, Alison M Dunning, Paul D Pharoah, Stacey L Edwards, Georgia Chenevix-Trench, Antonis C Antoniou, Simon A Gayther
A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10(-20)), ER-negative BC (P=1.1 × 10(-13)), BRCA1-associated BC (P=7.7 × 10(-16)) and triple negative BC (P-diff=2 × 10(-5)). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10(-3)) and ABHD8 (P<2 × 10(-3))...
September 7, 2016: Nature Communications
https://www.readbyqxmd.com/read/27600471/fine-scale-mapping-of-the-17q22-breast-cancer-locus-using-dense-snps-genotyped-within-the-collaborative-oncological-gene-environment-study-cogs
#12
Hatef Darabi, Jonathan Beesley, Arnaud Droit, Siddhartha Kar, Silje Nord, Mahdi Moradi Marjaneh, Penny Soucy, Kyriaki Michailidou, Maya Ghoussaini, Hanna Fues Wahl, Manjeet K Bolla, Qin Wang, Joe Dennis, M Rosario Alonso, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Matthias W Beckmann, Javier Benitez, Natalia V Bogdanova, Stig E Bojesen, Hiltrud Brauch, Hermann Brenner, Annegien Broeks, Thomas Brüning, Barbara Burwinkel, Jenny Chang-Claude, Ji-Yeob Choi, Don M Conroy, Fergus J Couch, Angela Cox, Simon S Cross, Kamila Czene, Peter Devilee, Thilo Dörk, Douglas F Easton, Peter A Fasching, Jonine Figueroa, Olivia Fletcher, Henrik Flyger, Eva Galle, Montserrat García-Closas, Graham G Giles, Mark S Goldberg, Anna González-Neira, Pascal Guénel, Christopher A Haiman, Emily Hallberg, Ute Hamann, Mikael Hartman, Antoinette Hollestelle, John L Hopper, Hidemi Ito, Anna Jakubowska, Nichola Johnson, Daehee Kang, Sofia Khan, Veli-Matti Kosma, Mieke Kriege, Vessela Kristensen, Diether Lambrechts, Loic Le Marchand, Soo Chin Lee, Annika Lindblom, Artitaya Lophatananon, Jan Lubinski, Arto Mannermaa, Siranoush Manoukian, Sara Margolin, Keitaro Matsuo, Rebecca Mayes, James McKay, Alfons Meindl, Roger L Milne, Kenneth Muir, Susan L Neuhausen, Heli Nevanlinna, Curtis Olswold, Nick Orr, Paolo Peterlongo, Guillermo Pita, Katri Pylkäs, Anja Rudolph, Suleeporn Sangrajrang, Elinor J Sawyer, Marjanka K Schmidt, Rita K Schmutzler, Caroline Seynaeve, Mitul Shah, Chen-Yang Shen, Xiao-Ou Shu, Melissa C Southey, Daniel O Stram, Harald Surowy, Anthony Swerdlow, Soo H Teo, Daniel C Tessier, Ian Tomlinson, Diana Torres, Thérèse Truong, Celine M Vachon, Daniel Vincent, Robert Winqvist, Anna H Wu, Pei-Ei Wu, Cheng Har Yip, Wei Zheng, Paul D P Pharoah, Per Hall, Stacey L Edwards, Jacques Simard, Juliet D French, Georgia Chenevix-Trench, Alison M Dunning
Genome-wide association studies have found SNPs at 17q22 to be associated with breast cancer risk. To identify potential causal variants related to breast cancer risk, we performed a high resolution fine-mapping analysis that involved genotyping 517 SNPs using a custom Illumina iSelect array (iCOGS) followed by imputation of genotypes for 3,134 SNPs in more than 89,000 participants of European ancestry from the Breast Cancer Association Consortium (BCAC). We identified 28 highly correlated common variants, in a 53 Kb region spanning two introns of the STXBP4 gene, that are strong candidates for driving breast cancer risk (lead SNP rs2787486 (OR = 0...
September 7, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27595995/palb2-chek2-and-atm-rare-variants-and-cancer-risk-data-from-cogs
#13
Melissa C Southey, David E Goldgar, Robert Winqvist, Katri Pylkäs, Fergus Couch, Marc Tischkowitz, William D Foulkes, Joe Dennis, Kyriaki Michailidou, Elizabeth J van Rensburg, Tuomas Heikkinen, Heli Nevanlinna, John L Hopper, Thilo Dörk, Kathleen Bm Claes, Jorge Reis-Filho, Zhi Ling Teo, Paolo Radice, Irene Catucci, Paolo Peterlongo, Helen Tsimiklis, Fabrice A Odefrey, James G Dowty, Marjanka K Schmidt, Annegien Broeks, Frans B Hogervorst, Senno Verhoef, Jane Carpenter, Christine Clarke, Rodney J Scott, Peter A Fasching, Lothar Haeberle, Arif B Ekici, Matthias W Beckmann, Julian Peto, Isabel Dos-Santos-Silva, Olivia Fletcher, Nichola Johnson, Manjeet K Bolla, Elinor J Sawyer, Ian Tomlinson, Michael J Kerin, Nicola Miller, Federik Marme, Barbara Burwinkel, Rongxi Yang, Pascal Guénel, Thérèse Truong, Florence Menegaux, Marie Sanchez, Stig Bojesen, Sune F Nielsen, Henrik Flyger, Javier Benitez, M Pilar Zamora, Jose Ignacio Arias Perez, Primitiva Menéndez, Hoda Anton-Culver, Susan Neuhausen, Argyrios Ziogas, Christina A Clarke, Hermann Brenner, Volker Arndt, Christa Stegmaier, Hiltrud Brauch, Thomas Brüning, Yon-Dschun Ko, Taru A Muranen, Kristiina Aittomäki, Carl Blomqvist, Natalia V Bogdanova, Natalia N Antonenkova, Annika Lindblom, Sara Margolin, Arto Mannermaa, Vesa Kataja, Veli-Matti Kosma, Jaana M Hartikainen, Amanda B Spurdle, kConFab Investigators, Els Wauters, Dominiek Smeets, Benoit Beuselinck, Giuseppe Floris, Jenny Chang-Claude, Anja Rudolph, Petra Seibold, Dieter Flesch-Janys, Janet E Olson, Celine Vachon, Vernon S Pankratz, Catriona McLean, Christopher A Haiman, Brian E Henderson, Fredrick Schumacher, Loic Le Marchand, Vessela Kristensen, Grethe Grenaker Alnæs, Wei Zheng, David J Hunter, Sara Lindstrom, Susan E Hankinson, Peter Kraft, Irene Andrulis, Julia A Knight, Gord Glendon, Anna Marie Mulligan, Arja Jukkola-Vuorinen, Mervi Grip, Saila Kauppila, Peter Devilee, Robert A E M Tollenaar, Caroline Seynaeve, Antoinette Hollestelle, Montserrat Garcia-Closas, Jonine Figueroa, Stephen J Chanock, Jolanta Lissowska, Kamila Czene, Hatef Darabi, Mikael Eriksson, Diana M Eccles, Sajjad Rafiq, William J Tapper, Sue M Gerty, Maartje J Hooning, John W M Martens, J Margriet Collée, Madeleine Tilanus-Linthorst, Per Hall, Jingmei Li, Judith S Brand, Keith Humphreys, Angela Cox, Malcolm W R Reed, Craig Luccarini, Caroline Baynes, Alison M Dunning, Ute Hamann, Diana Torres, Hans Ulrich Ulmer, Thomas Rüdiger, Anna Jakubowska, Jan Lubinski, Katarzyna Jaworska, Katarzyna Durda, Susan Slager, Amanda E Toland, Christine B Ambrosone, Drakoulis Yannoukakos, Anthony Swerdlow, Alan Ashworth, Nick Orr, Michael Jones, Anna González-Neira, Guillermo Pita, M Rosario Alonso, Nuria Álvarez, Daniel Herrero, Daniel C Tessier, Daniel Vincent, Francois Bacot, Jacques Simard, Martine Dumont, Penny Soucy, Rosalind Eeles, Kenneth Muir, Fredrik Wiklund, Henrik Gronberg, Johanna Schleutker, Børge G Nordestgaard, Maren Weischer, Ruth C Travis, David Neal, Jenny L Donovan, Freddie C Hamdy, Kay-Tee Khaw, Janet L Stanford, William J Blot, Stephen Thibodeau, Daniel J Schaid, Joseph L Kelley, Christiane Maier, Adam S Kibel, Cezary Cybulski, Lisa Cannon-Albright, Katja Butterbach, Jong Park, Radka Kaneva, Jyotsna Batra, Manuel R Teixeira, Zsofia Kote-Jarai, Ali Amin Al Olama, Sara Benlloch, Stefan P Renner, Arndt Hartmann, Alexander Hein, Matthias Ruebner, Diether Lambrechts, Els Van Nieuwenhuysen, Ignace Vergote, Sandrina Lambretchs, Jennifer A Doherty, Mary Anne Rossing, Stefan Nickels, Ursula Eilber, Shan Wang-Gohrke, Kunle Odunsi, Lara E Sucheston-Campbell, Grace Friel, Galina Lurie, Jeffrey L Killeen, Lynne R Wilkens, Marc T Goodman, Ingo Runnebaum, Peter A Hillemanns, Liisa M Pelttari, Ralf Butzow, Francesmary Modugno, Robert P Edwards, Roberta B Ness, Kirsten B Moysich, Andreas du Bois, Florian Heitz, Philipp Harter, Stefan Kommoss, Beth Y Karlan, Christine Walsh, Jenny Lester, Allan Jensen, Susanne Krüger Kjaer, Estrid Høgdall, Bernard Peissel, Bernardo Bonanni, Loris Bernard, Ellen L Goode, Brooke L Fridley, Robert A Vierkant, Julie M Cunningham, Melissa C Larson, Zachary C Fogarty, Kimberly R Kalli, Dong Liang, Karen H Lu, Michelle A T Hildebrandt, Xifeng Wu, Douglas A Levine, Fanny Dao, Maria Bisogna, Andrew Berchuck, Edwin S Iversen, Jeffrey R Marks, Lucy Akushevich, Daniel W Cramer, Joellen Schildkraut, Kathryn L Terry, Elizabeth M Poole, Meir Stampfer, Shelley S Tworoger, Elisa V Bandera, Irene Orlow, Sara H Olson, Line Bjorge, Helga B Salvesen, Anne M van Altena, Katja K H Aben, Lambertus A Kiemeney, Leon F A G Massuger, Tanja Pejovic, Yukie Bean, Angela Brooks-Wilson, Linda E Kelemen, Linda S Cook, Nhu D Le, Bohdan Górski, Jacek Gronwald, Janusz Menkiszak, Claus K Høgdall, Lene Lundvall, Lotte Nedergaard, Svend Aage Engelholm, Ed Dicks, Jonathan Tyrer, Ian Campbell, Iain McNeish, James Paul, Nadeem Siddiqui, Rosalind Glasspool, Alice S Whittemore, Joseph H Rothstein, Valerie McGuire, Weiva Sieh, Hui Cai, Xiao-Ou Shu, Rachel T Teten, Rebecca Sutphen, John R McLaughlin, Steven A Narod, Catherine M Phelan, Alvaro N Monteiro, David Fenstermacher, Hui-Yi Lin, Jennifer B Permuth, Thomas A Sellers, Y Ann Chen, Ya-Yu Tsai, Zhihua Chen, Aleksandra Gentry-Maharaj, Simon A Gayther, Susan J Ramus, Usha Menon, Anna H Wu, Celeste L Pearce, David Van Den Berg, Malcolm C Pike, Agnieszka Dansonka-Mieszkowska, Joanna Plisiecka-Halasa, Joanna Moes-Sosnowska, Jolanta Kupryjanczyk, Paul Dp Pharoah, Honglin Song, Ingrid Winship, Georgia Chenevix-Trench, Graham G Giles, Sean V Tavtigian, Doug F Easton, Roger L Milne
BACKGROUND: The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with rare BRCA2 mutations. We aimed to estimate the relative risks associated with specific rare variants in PALB2, CHEK2 and ATM via a multicentre case-control study. METHODS: We genotyped 10 rare mutations using the custom iCOGS array: PALB2 c...
December 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27556229/fine-mapping-of-the-1p11-2-breast-cancer-susceptibility-locus
#14
Hisani N Horne, Charles C Chung, Han Zhang, Kai Yu, Ludmila Prokunina-Olsson, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Joe Dennis, John L Hopper, Melissa C Southey, Marjanka K Schmidt, Annegien Broeks, Kenneth Muir, Artitaya Lophatananon, Peter A Fasching, Matthias W Beckmann, Olivia Fletcher, Nichola Johnson, Elinor J Sawyer, Ian Tomlinson, Barbara Burwinkel, Frederik Marme, Pascal Guénel, Thérèse Truong, Stig E Bojesen, Henrik Flyger, Javier Benitez, Anna González-Neira, Hoda Anton-Culver, Susan L Neuhausen, Hermann Brenner, Volker Arndt, Alfons Meindl, Rita K Schmutzler, Hiltrud Brauch, Ute Hamann, Heli Nevanlinna, Sofia Khan, Keitaro Matsuo, Hiroji Iwata, Thilo Dörk, Natalia V Bogdanova, Annika Lindblom, Sara Margolin, Arto Mannermaa, Veli-Matti Kosma, Georgia Chenevix-Trench, Anna H Wu, David Ven den Berg, Ann Smeets, Hui Zhao, Jenny Chang-Claude, Anja Rudolph, Paolo Radice, Monica Barile, Fergus J Couch, Celine Vachon, Graham G Giles, Roger L Milne, Christopher A Haiman, Loic Le Marchand, Mark S Goldberg, Soo H Teo, Nur A M Taib, Vessela Kristensen, Anne-Lise Borresen-Dale, Wei Zheng, Martha Shrubsole, Robert Winqvist, Arja Jukkola-Vuorinen, Irene L Andrulis, Julia A Knight, Peter Devilee, Caroline Seynaeve, Montserrat García-Closas, Kamila Czene, Hatef Darabi, Antoinette Hollestelle, John W M Martens, Jingmei Li, Wei Lu, Xiao-Ou Shu, Angela Cox, Simon S Cross, William Blot, Qiuyin Cai, Mitul Shah, Craig Luccarini, Caroline Baynes, Patricia Harrington, Daehee Kang, Ji-Yeob Choi, Mikael Hartman, Kee Seng Chia, Maria Kabisch, Diana Torres, Anna Jakubowska, Jan Lubinski, Suleeporn Sangrajrang, Paul Brennan, Susan Slager, Drakoulis Yannoukakos, Chen-Yang Shen, Ming-Feng Hou, Anthony Swerdlow, Nick Orr, Jacques Simard, Per Hall, Paul D P Pharoah, Douglas F Easton, Stephen J Chanock, Alison M Dunning, Jonine D Figueroa
The Cancer Genetic Markers of Susceptibility genome-wide association study (GWAS) originally identified a single nucleotide polymorphism (SNP) rs11249433 at 1p11.2 associated with breast cancer risk. To fine-map this locus, we genotyped 92 SNPs in a 900kb region (120,505,799-121,481,132) flanking rs11249433 in 45,276 breast cancer cases and 48,998 controls of European, Asian and African ancestry from 50 studies in the Breast Cancer Association Consortium. Genotyping was done using iCOGS, a custom-built array...
2016: PloS One
https://www.readbyqxmd.com/read/27551723/genetically-predicted-body-mass-index-and-breast-cancer-risk-mendelian-randomization-analyses-of-data-from-145-000-women-of-european-descent
#15
Yan Guo, Shaneda Warren Andersen, Xiao-Ou Shu, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Montserrat Garcia-Closas, Roger L Milne, Marjanka K Schmidt, Jenny Chang-Claude, Allison Dunning, Stig E Bojesen, Habibul Ahsan, Kristiina Aittomäki, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Matthias W Beckmann, Alicia Beeghly-Fadiel, Javier Benitez, Natalia V Bogdanova, Bernardo Bonanni, Anne-Lise Børresen-Dale, Judith Brand, Hiltrud Brauch, Hermann Brenner, Thomas Brüning, Barbara Burwinkel, Graham Casey, Georgia Chenevix-Trench, Fergus J Couch, Angela Cox, Simon S Cross, Kamila Czene, Peter Devilee, Thilo Dörk, Martine Dumont, Peter A Fasching, Jonine Figueroa, Dieter Flesch-Janys, Olivia Fletcher, Henrik Flyger, Florentia Fostira, Marilie Gammon, Graham G Giles, Pascal Guénel, Christopher A Haiman, Ute Hamann, Maartje J Hooning, John L Hopper, Anna Jakubowska, Farzana Jasmine, Mark Jenkins, Esther M John, Nichola Johnson, Michael E Jones, Maria Kabisch, Muhammad Kibriya, Julia A Knight, Linetta B Koppert, Veli-Matti Kosma, Vessela Kristensen, Loic Le Marchand, Eunjung Lee, Jingmei Li, Annika Lindblom, Robert Luben, Jan Lubinski, Kathi E Malone, Arto Mannermaa, Sara Margolin, Frederik Marme, Catriona McLean, Hanne Meijers-Heijboer, Alfons Meindl, Susan L Neuhausen, Heli Nevanlinna, Patrick Neven, Janet E Olson, Jose I A Perez, Barbara Perkins, Paolo Peterlongo, Kelly-Anne Phillips, Katri Pylkäs, Anja Rudolph, Regina Santella, Elinor J Sawyer, Rita K Schmutzler, Caroline Seynaeve, Mitul Shah, Martha J Shrubsole, Melissa C Southey, Anthony J Swerdlow, Amanda E Toland, Ian Tomlinson, Diana Torres, Thérèse Truong, Giske Ursin, Rob B Van Der Luijt, Senno Verhoef, Alice S Whittemore, Robert Winqvist, Hui Zhao, Shilin Zhao, Per Hall, Jacques Simard, Peter Kraft, Paul Pharoah, David Hunter, Douglas F Easton, Wei Zheng
BACKGROUND: Observational epidemiological studies have shown that high body mass index (BMI) is associated with a reduced risk of breast cancer in premenopausal women but an increased risk in postmenopausal women. It is unclear whether this association is mediated through shared genetic or environmental factors. METHODS: We applied Mendelian randomization to evaluate the association between BMI and risk of breast cancer occurrence using data from two large breast cancer consortia...
August 2016: PLoS Medicine
https://www.readbyqxmd.com/read/27550749/genetic-risk-score-mendelian-randomization-shows-that-obesity-measured-as-body-mass-index-but-not-waist-hip-ratio-is-causal-for-endometrial-cancer
#16
Jodie N Painter, Tracy A O'Mara, Louise Marquart, Penelope M Webb, John Attia, Sarah E Medland, Timothy Cheng, Joe Dennis, Elizabeth G Holliday, Mark McEvoy, Rodney J Scott, Shahana Ahmed, Catherine S Healey, Mitul Shah, Maggie Gorman, Lynn Martin, Shirley V Hodgson, Matthias W Beckmann, Arif B Ekici, Peter A Fasching, Alexander Hein, Matthias Rübner, Kamila Czene, Hatef Darabi, Per Hall, Jingmei Li, Thilo Dörk, Matthias Dürst, Peter Hillemanns, Ingo B Runnebaum, Frederic Amant, Daniela Annibali, Jeroen Depreeuw, Diether Lambrechts, Patrick Neven, Julie M Cunningham, Sean C Dowdy, Ellen L Goode, Brooke L Fridley, Stacey J Winham, Tormund S Njølstad, Helga B Salvesen, Jone Trovik, Henrica M J Werner, Katie A Ashton, Geoffrey Otton, Anthony Proietto, Miriam Mints, Emma Tham, Manjeet K Bolla, Kyriaki Michailidou, Qin Wang, Jonathan P Tyrer, John L Hopper, Julian Peto, Anthony J Swerdlow, Barbara Burwinkel, Hermann Brenner, Alfons Meindl, Hiltrud Brauch, Annika Lindblom, Jenny Chang-Claude, Fergus J Couch, Graham G Giles, Vessela N Kristensen, Angela Cox, Paul D P Pharoah, Ian Tomlinson, Alison M Dunning, Douglas F Easton, Deborah J Thompson, Amanda B Spurdle
BACKGROUND: The strongest known risk factor for endometrial cancer is obesity. To determine whether SNPs associated with increased body mass index (BMI) or waist-hip ratio (WHR) are associated with endometrial cancer risk, independent of measured BMI, we investigated relationships between 77 BMI and 47 WHR SNPs and endometrial cancer in 6,609 cases and 37,926 country-matched controls. METHODS: Logistic regression analysis and fixed effects meta-analysis were used to test for associations between endometrial cancer risk and (i) individual BMI or WHR SNPs, (ii) a combined weighted genetic risk score (wGRS) for BMI or WHR...
November 2016: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/27459855/identification-of-independent-association-signals-and-putative-functional-variants-for-breast-cancer-risk-through-fine-scale-mapping-of-the-12p11-locus
#17
Chenjie Zeng, Xingyi Guo, Jirong Long, Karoline B Kuchenbaecker, Arnaud Droit, Kyriaki Michailidou, Maya Ghoussaini, Siddhartha Kar, Adam Freeman, John L Hopper, Roger L Milne, Manjeet K Bolla, Qin Wang, Joe Dennis, Simona Agata, Shahana Ahmed, Kristiina Aittomäki, Irene L Andrulis, Hoda Anton-Culver, Natalia N Antonenkova, Adalgeir Arason, Volker Arndt, Banu K Arun, Brita Arver, Francois Bacot, Daniel Barrowdale, Caroline Baynes, Alicia Beeghly-Fadiel, Javier Benitez, Marina Bermisheva, Carl Blomqvist, William J Blot, Natalia V Bogdanova, Stig E Bojesen, Bernardo Bonanni, Anne-Lise Borresen-Dale, Judith S Brand, Hiltrud Brauch, Paul Brennan, Hermann Brenner, Annegien Broeks, Thomas Brüning, Barbara Burwinkel, Saundra S Buys, Qiuyin Cai, Trinidad Caldes, Ian Campbell, Jane Carpenter, Jenny Chang-Claude, Ji-Yeob Choi, Kathleen B M Claes, Christine Clarke, Angela Cox, Simon S Cross, Kamila Czene, Mary B Daly, Miguel de la Hoya, Kim De Leeneer, Peter Devilee, Orland Diez, Susan M Domchek, Michele Doody, Cecilia M Dorfling, Thilo Dörk, Isabel Dos-Santos-Silva, Martine Dumont, Miriam Dwek, Bernd Dworniczak, Kathleen Egan, Ursula Eilber, Zakaria Einbeigi, Bent Ejlertsen, Steve Ellis, Debra Frost, Fiona Lalloo, Peter A Fasching, Jonine Figueroa, Henrik Flyger, Michael Friedlander, Eitan Friedman, Gaetana Gambino, Yu-Tang Gao, Judy Garber, Montserrat García-Closas, Andrea Gehrig, Francesca Damiola, Fabienne Lesueur, Sylvie Mazoyer, Dominique Stoppa-Lyonnet, Graham G Giles, Andrew K Godwin, David E Goldgar, Anna González-Neira, Mark H Greene, Pascal Guénel, Lothar Haeberle, Christopher A Haiman, Emily Hallberg, Ute Hamann, Thomas V O Hansen, Steven Hart, Jaana M Hartikainen, Mikael Hartman, Norhashimah Hassan, Sue Healey, Frans B L Hogervorst, Senno Verhoef, Carolyn B Hendricks, Peter Hillemanns, Antoinette Hollestelle, Peter J Hulick, David J Hunter, Evgeny N Imyanitov, Claudine Isaacs, Hidemi Ito, Anna Jakubowska, Ramunas Janavicius, Katarzyna Jaworska-Bieniek, Uffe Birk Jensen, Esther M John, Charles Joly Beauparlant, Michael Jones, Maria Kabisch, Daehee Kang, Beth Y Karlan, Saila Kauppila, Michael J Kerin, Sofia Khan, Elza Khusnutdinova, Julia A Knight, Irene Konstantopoulou, Peter Kraft, Ava Kwong, Yael Laitman, Diether Lambrechts, Conxi Lazaro, Loic Le Marchand, Chuen Neng Lee, Min Hyuk Lee, Jenny Lester, Jingmei Li, Annelie Liljegren, Annika Lindblom, Artitaya Lophatananon, Jan Lubinski, Phuong L Mai, Arto Mannermaa, Siranoush Manoukian, Sara Margolin, Frederik Marme, Keitaro Matsuo, Lesley McGuffog, Alfons Meindl, Florence Menegaux, Marco Montagna, Kenneth Muir, Anna Marie Mulligan, Katherine L Nathanson, Susan L Neuhausen, Heli Nevanlinna, Polly A Newcomb, Silje Nord, Robert L Nussbaum, Kenneth Offit, Edith Olah, Olufunmilayo I Olopade, Curtis Olswold, Ana Osorio, Laura Papi, Tjoung-Won Park-Simon, Ylva Paulsson-Karlsson, Stephanie Peeters, Bernard Peissel, Paolo Peterlongo, Julian Peto, Georg Pfeiler, Catherine M Phelan, Nadege Presneau, Paolo Radice, Nazneen Rahman, Susan J Ramus, Muhammad Usman Rashid, Gad Rennert, Kerstin Rhiem, Anja Rudolph, Ritu Salani, Suleeporn Sangrajrang, Elinor J Sawyer, Marjanka K Schmidt, Rita K Schmutzler, Minouk J Schoemaker, Peter Schürmann, Caroline Seynaeve, Chen-Yang Shen, Martha J Shrubsole, Xiao-Ou Shu, Alice Sigurdson, Christian F Singer, Susan Slager, Penny Soucy, Melissa Southey, Doris Steinemann, Anthony Swerdlow, Csilla I Szabo, Sandrine Tchatchou, Manuel R Teixeira, Soo H Teo, Mary Beth Terry, Daniel C Tessier, Alex Teulé, Mads Thomassen, Laima Tihomirova, Marc Tischkowitz, Amanda E Toland, Nadine Tung, Clare Turnbull, Ans M W van den Ouweland, Elizabeth J van Rensburg, David Ven den Berg, Joseph Vijai, Shan Wang-Gohrke, Jeffrey N Weitzel, Alice S Whittemore, Robert Winqvist, Tien Y Wong, Anna H Wu, Drakoulis Yannoukakos, Jyh-Cherng Yu, Paul D P Pharoah, Per Hall, Georgia Chenevix-Trench, Alison M Dunning, Jacques Simard, Fergus J Couch, Antonis C Antoniou, Douglas F Easton, Wei Zheng
BACKGROUND: Multiple recent genome-wide association studies (GWAS) have identified a single nucleotide polymorphism (SNP), rs10771399, at 12p11 that is associated with breast cancer risk. METHOD: We performed a fine-scale mapping study of a 700 kb region including 441 genotyped and more than 1300 imputed genetic variants in 48,155 cases and 43,612 controls of European descent, 6269 cases and 6624 controls of East Asian descent and 1116 cases and 932 controls of African descent in the Breast Cancer Association Consortium (BCAC; http://bcac...
June 21, 2016: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/27432226/genome-wide-meta-analyses-of-breast-ovarian-and-prostate-cancer-association-studies-identify-multiple-new-susceptibility-loci-shared-by-at-least-two-cancer-types
#18
Siddhartha P Kar, Jonathan Beesley, Ali Amin Al Olama, Kyriaki Michailidou, Jonathan Tyrer, ZSofia Kote-Jarai, Kate Lawrenson, Sara Lindstrom, Susan J Ramus, Deborah J Thompson, Adam S Kibel, Agnieszka Dansonka-Mieszkowska, Agnieszka Michael, Aida K Dieffenbach, Aleksandra Gentry-Maharaj, Alice S Whittemore, Alicja Wolk, Alvaro Monteiro, Ana Peixoto, Andrzej Kierzek, Angela Cox, Anja Rudolph, Anna Gonzalez-Neira, Anna H Wu, Annika Lindblom, Anthony Swerdlow, Argyrios Ziogas, Arif B Ekici, Barbara Burwinkel, Beth Y Karlan, Børge G Nordestgaard, Carl Blomqvist, Catherine Phelan, Catriona McLean, Celeste Leigh Pearce, Celine Vachon, Cezary Cybulski, Chavdar Slavov, Christa Stegmaier, Christiane Maier, Christine B Ambrosone, Claus K Høgdall, Craig C Teerlink, Daehee Kang, Daniel C Tessier, Daniel J Schaid, Daniel O Stram, Daniel W Cramer, David E Neal, Diana Eccles, Dieter Flesch-Janys, Digna R Velez Edwards, Dominika Wokozorczyk, Douglas A Levine, Drakoulis Yannoukakos, Elinor J Sawyer, Elisa V Bandera, Elizabeth M Poole, Ellen L Goode, Elza Khusnutdinova, Estrid Høgdall, Fengju Song, Fiona Bruinsma, Florian Heitz, Francesmary Modugno, Freddie C Hamdy, Fredrik Wiklund, Graham G Giles, Håkan Olsson, Hans Wildiers, Hans-Ulrich Ulmer, Hardev Pandha, Harvey A Risch, Hatef Darabi, Helga B Salvesen, Heli Nevanlinna, Henrik Gronberg, Hermann Brenner, Hiltrud Brauch, Hoda Anton-Culver, Honglin Song, Hui-Yi Lim, Iain McNeish, Ian Campbell, Ignace Vergote, Jacek Gronwald, Jan Lubiński, Janet L Stanford, Javier Benítez, Jennifer A Doherty, Jennifer B Permuth, Jenny Chang-Claude, Jenny L Donovan, Joe Dennis, Joellen M Schildkraut, Johanna Schleutker, John L Hopper, Jolanta Kupryjanczyk, Jong Y Park, Jonine Figueroa, Judith A Clements, Julia A Knight, Julian Peto, Julie M Cunningham, Julio Pow-Sang, Jyotsna Batra, Kamila Czene, Karen H Lu, Kathleen Herkommer, Kay-Tee Khaw, Keitaro Matsuo, Kenneth Muir, Kenneth Offitt, Kexin Chen, Kirsten B Moysich, Kristiina Aittomäki, Kunle Odunsi, Lambertus A Kiemeney, Leon F A G Massuger, Liesel M Fitzgerald, Linda S Cook, Lisa Cannon-Albright, Maartje J Hooning, Malcolm C Pike, Manjeet K Bolla, Manuel Luedeke, Manuel R Teixeira, Marc T Goodman, Marjanka K Schmidt, Marjorie Riggan, Markus Aly, Mary Anne Rossing, Matthias W Beckmann, Matthieu Moisse, Maureen Sanderson, Melissa C Southey, Michael Jones, Michael Lush, Michelle A T Hildebrandt, Ming-Feng Hou, Minouk J Schoemaker, Montserrat Garcia-Closas, Natalia Bogdanova, Nazneen Rahman, Nhu D Le, Nick Orr, Nicolas Wentzensen, Nora Pashayan, Paolo Peterlongo, Pascal Guénel, Paul Brennan, Paula Paulo, Penelope M Webb, Per Broberg, Peter A Fasching, Peter Devilee, Qin Wang, Qiuyin Cai, Qiyuan Li, Radka Kaneva, Ralf Butzow, Reidun Kristin Kopperud, Rita K Schmutzler, Robert A Stephenson, Robert J MacInnis, Robert N Hoover, Robert Winqvist, Roberta Ness, Roger L Milne, Ruth C Travis, Sara Benlloch, Sara H Olson, Shannon K McDonnell, Shelley S Tworoger, Sofia Maia, Sonja Berndt, Soo Chin Lee, Soo-Hwang Teo, Stephen N Thibodeau, Stig E Bojesen, Susan M Gapstur, Susanne Krüger Kjær, Tanja Pejovic, Teuvo L J Tammela, Thilo Dörk, Thomas Brüning, Tiina Wahlfors, Tim J Key, Todd L Edwards, Usha Menon, Ute Hamann, Vanio Mitev, Veli-Matti Kosma, Veronica Wendy Setiawan, Vessela Kristensen, Volker Arndt, Walther Vogel, Wei Zheng, Weiva Sieh, William J Blot, Wojciech Kluzniak, Xiao-Ou Shu, Yu-Tang Gao, Fredrick Schumacher, Matthew L Freedman, Andrew Berchuck, Alison M Dunning, Jacques Simard, Christopher A Haiman, Amanda Spurdle, Thomas A Sellers, David J Hunter, Brian E Henderson, Peter Kraft, Stephen J Chanock, Fergus J Couch, Per Hall, Simon A Gayther, Douglas F Easton, Georgia Chenevix-Trench, Rosalind Eeles, Paul D P Pharoah, Diether Lambrechts
UNLABELLED: Breast, ovarian, and prostate cancers are hormone-related and may have a shared genetic basis, but this has not been investigated systematically by genome-wide association (GWA) studies. Meta-analyses combining the largest GWA meta-analysis data sets for these cancers totaling 112,349 cases and 116,421 controls of European ancestry, all together and in pairs, identified at P < 10(-8) seven new cross-cancer loci: three associated with susceptibility to all three cancers (rs17041869/2q13/BCL2L11; rs7937840/11q12/INCENP; rs1469713/19p13/GATAD2A), two breast and ovarian cancer risk loci (rs200182588/9q31/SMC2; rs8037137/15q26/RCCD1), and two breast and prostate cancer risk loci (rs5013329/1p34/NSUN4; rs9375701/6q23/L3MBTL3)...
September 2016: Cancer Discovery
https://www.readbyqxmd.com/read/27342221/selecting-instruments-for-mendelian-randomization-in-the-wake-of-genome-wide-association-studies
#19
Daniel I Swerdlow, Karoline B Kuchenbaecker, Sonia Shah, Reecha Sofat, Michael V Holmes, Jon White, Jennifer S Mindell, Mika Kivimaki, Eric J Brunner, John C Whittaker, Juan P Casas, Aroon D Hingorani
Mendelian randomization (MR) studies typically assess the pathogenic relevance of environmental exposures or disease biomarkers, using genetic variants that instrument these exposures. The approach is gaining popularity-our systematic review reveals a greater than 10-fold increase in MR studies published between 2004 and 2015. When the MR paradigm was first proposed, few biomarker- or exposure-related genetic variants were known, most having been identified by candidate gene studies. However, genome-wide association studies (GWAS) are now providing a rich source of potential instruments for MR analysis...
June 24, 2016: International Journal of Epidemiology
https://www.readbyqxmd.com/read/27325851/ovarian-cancer-risk-factors-by-histologic-subtype-an-analysis-from-the-ovarian-cancer-cohort-consortium
#20
Nicolas Wentzensen, Elizabeth M Poole, Britton Trabert, Emily White, Alan A Arslan, Alpa V Patel, V Wendy Setiawan, Kala Visvanathan, Elisabete Weiderpass, Hans-Olov Adami, Amanda Black, Leslie Bernstein, Louise A Brinton, Julie Buring, Lesley M Butler, Saioa Chamosa, Tess V Clendenen, Laure Dossus, Renee Fortner, Susan M Gapstur, Mia M Gaudet, Inger T Gram, Patricia Hartge, Judith Hoffman-Bolton, Annika Idahl, Michael Jones, Rudolf Kaaks, Victoria Kirsh, Woon-Puay Koh, James V Lacey, I-Min Lee, Eva Lundin, Melissa A Merritt, N Charlotte Onland-Moret, Ulrike Peters, Jenny N Poynter, Sabina Rinaldi, Kim Robien, Thomas Rohan, Dale P Sandler, Catherine Schairer, Leo J Schouten, Louise K Sjöholm, Sabina Sieri, Anthony Swerdlow, Anna Tjonneland, Ruth Travis, Antonia Trichopoulou, Piet A van den Brandt, Lynne Wilkens, Alicja Wolk, Hannah P Yang, Anne Zeleniuch-Jacquotte, Shelley S Tworoger
PURPOSE: An understanding of the etiologic heterogeneity of ovarian cancer is important for improving prevention, early detection, and therapeutic approaches. We evaluated 14 hormonal, reproductive, and lifestyle factors by histologic subtype in the Ovarian Cancer Cohort Consortium (OC3). PATIENTS AND METHODS: Among 1.3 million women from 21 studies, 5,584 invasive epithelial ovarian cancers were identified (3,378 serous, 606 endometrioid, 331 mucinous, 269 clear cell, 1,000 other)...
August 20, 2016: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
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