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Richard Hopper

Jian Gong, Carolyn M Hutter, Polly A Newcomb, Cornelia M Ulrich, Stephanie A Bien, Peter T Campbell, John A Baron, Sonja I Berndt, Stephane Bezieau, Hermann Brenner, Graham Casey, Andrew T Chan, Jenny Chang-Claude, Mengmeng Du, David Duggan, Jane C Figueiredo, Steven Gallinger, Edward L Giovannucci, Robert W Haile, Tabitha A Harrison, Richard B Hayes, Michael Hoffmeister, John L Hopper, Thomas J Hudson, Jihyoun Jeon, Mark A Jenkins, Jonathan Kocarnik, Sébastien Küry, Loic Le Marchand, Yi Lin, Noralane M Lindor, Reiko Nishihara, Shuji Ogino, John D Potter, Anja Rudolph, Robert E Schoen, Petra Schrotz-King, Daniela Seminara, Martha L Slattery, Stephen N Thibodeau, Mark Thornquist, Reka Toth, Robert Wallace, Emily White, Shuo Jiao, Mathieu Lemire, Li Hsu, Ulrike Peters
Genome-wide association studies (GWAS) have identified many genetic susceptibility loci for colorectal cancer (CRC). However, variants in these loci explain only a small proportion of familial aggregation, and there are likely additional variants that are associated with CRC susceptibility. Genome-wide studies of gene-environment interactions may identify variants that are not detected in GWAS of marginal gene effects. To study this, we conducted a genome-wide analysis for interaction between genetic variants and alcohol consumption and cigarette smoking using data from the Colon Cancer Family Registry (CCFR) and the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO)...
October 2016: PLoS Genetics
Raymond W Tse, Eugene Oh, Joseph S Gruss, Richard A Hopper, Craig B Birgfeld
BACKGROUND: Lack of convenient and reliable methods to grade aesthetic outcomes limits the ability to study results and optimize treatment of unilateral cleft lip. Crowdsourcing methods solicit contributions from a large group to achieve a greater task. The authors hypothesized that crowdsourcing could be used to reliably grade aesthetic outcomes of unilateral cleft lip. METHODS: Fifty deidentified photographs of 8- to 10-year-old subjects (46 with unilateral cleft lip and four controls) were assembled...
October 2016: Plastic and Reconstructive Surgery
Amanda J Cain, Caleb O Lemley, F Kevin Walters, David L Christiansen, E Heath King, Richard M Hopper
The objective of the present study was to evaluate the effects of beef heifer development practices and the influence of season on uterine artery hemodynamics during mid to late gestation. Metrics of uterine artery blood flow (BF) of fall calving and spring calving crossbred beef heifers (n = 27) developed on either a low-input (LOW|FALL n = 6; LOW|SPRING n = 6) or a conventional (CON|FALL n = 9; CON|SPRING n = 6) heifer development scheme were evaluated. Heifer body weight (BW) was measured every 30 days, and uterine BF, arterial diameter (AD), pulsatility index (PI), and resistance index were measured for uterine arteries ipsilateral and contralateral to the conceptus on days 180, 210, and 240 of gestation...
August 5, 2016: Theriogenology
Pierre-Antoine Dugué, Maree T Brinkman, Roger L Milne, Ee Ming Wong, Liesel M FitzGerald, Julie K Bassett, Jihoon E Joo, Chol-Hee Jung, Enes Makalic, Daniel F Schmidt, Daniel J Park, Jessica Chung, Anthony D Ta, Damien M Bolton, Andrew Lonie, Anthony Longano, John L Hopper, Gianluca Severi, Richard Saffery, Dallas R English, Melissa C Southey, Graham G Giles
BACKGROUND: Global DNA methylation has been reported to be associated with urothelial cell carcinoma (UCC) by studies using blood samples collected at diagnosis. Using the Illumina HumanMethylation450 assay, we derived genome-wide measures of blood DNA methylation and assessed them for their prospective association with UCC risk. METHODS: We used 439 case-control pairs from the Melbourne Collaborative Cohort Study matched on age, sex, country of birth, DNA sample type, and collection period...
September 6, 2016: British Journal of Cancer
Mengmeng Du, Shuo Jiao, Stephanie A Bien, Manish Gala, Goncalo Abecasis, Stephane Bezieau, Hermann Brenner, Katja Butterbach, Bette J Caan, Christopher S Carlson, Graham Casey, Jenny Chang-Claude, David V Conti, Keith R Curtis, David Duggan, Steven Gallinger, Robert W Haile, Tabitha A Harrison, Richard B Hayes, Michael Hoffmeister, John L Hopper, Thomas J Hudson, Mark A Jenkins, Sébastien Küry, Loic Le Marchand, Suzanne M Leal, Polly A Newcomb, Deborah A Nickerson, John D Potter, Robert E Schoen, Fredrick R Schumacher, Daniela Seminara, Martha L Slattery, Li Hsu, Andrew T Chan, Emily White, Sonja I Berndt, Ulrike Peters
Genome-wide association studies (GWAS) have identified many common single nucleotide polymorphisms (SNPs) associated with colorectal cancer risk. These SNPs may tag correlated variants with biological importance. Fine-mapping around GWAS loci can facilitate detection of functional candidates and additional independent risk variants. We analyzed 11,900 cases and 14,311 controls in the Genetics and Epidemiology of Colorectal Cancer Consortium and the Colon Cancer Family Registry. To fine-map genomic regions containing all known common risk variants, we imputed high-density genetic data from the 1000 Genomes Project...
2016: PloS One
Ann M Buysse, Benjamin M Nugent, Nick X Wang, Zoltan Benko, Nneka Breaux, Richard Rogers, Yuanming Zhu
BACKGROUND: The discovery of sulfoxaflor (Isoclast™ active) stemmed from a novel scaffold-based approach toward identifying bioactive molecules. It exhibits broad spectrum control of many sap-feeding insect pests, including aphids, whiteflies, hoppers and Lygus. Systematic modifications of the substituents flanking each side of the sulfoximine moiety were carried out to determine if these changes would improve potency. RESULTS: Structure activity relationship (SAR) studies showed that with respect to the methylene linker, both mono- and di-substitution with alkyl groups of varying sizes as well as cyclic analogs exhibited excellent control of cotton aphids...
July 1, 2016: Pest Management Science
David Jarvis, Jonathan S Mitchell, Philip J Law, Kimmo Palin, Sari Tuupanen, Alexandra Gylfe, Ulrika A Hänninen, Tatiana Cajuso, Tomas Tanskanen, Johanna Kondelin, Eevi Kaasinen, Antti-Pekka Sarin, Jaakko Kaprio, Johan G Eriksson, Harri Rissanen, Paul Knekt, Eero Pukkala, Pekka Jousilahti, Veikko Salomaa, Samuli Ripatti, Aarno Palotie, Heikki Järvinen, Laura Renkonen-Sinisalo, Anna Lepistö, Jan Böhm, Jukka-Pekka Meklin, Nada A Al-Tassan, Claire Palles, Lynn Martin, Ella Barclay, Susan M Farrington, Maria N Timofeeva, Brian F Meyer, Salma M Wakil, Harry Campbell, Christopher G Smith, Shelley Idziaszczyk, Timothy S Maughan, Richard Kaplan, Rachel Kerr, David Kerr, Daniel D Buchanan, Aung K Win, John L Hopper, Mark A Jenkins, Noralane M Lindor, Polly A Newcomb, Steve Gallinger, David Conti, Fred Schumacher, Graham Casey, Jussi Taipale, Lauri A Aaltonen, Jeremy P Cheadle, Malcolm G Dunlop, Ian P Tomlinson, Richard S Houlston
BACKGROUND: Observational studies have associated adiposity with an increased risk of colorectal cancer (CRC). However, such studies do not establish a causal relationship. To minimise bias from confounding we performed a Mendelian randomisation (MR) analysis to examine the relationship between adiposity and CRC. METHODS: We used SNPs associated with adult body mass index (BMI), waist-hip ratio (WHR), childhood obesity and birth weight as instrumental variables in a MR analysis of 9254 CRC cases and 18 386 controls...
July 12, 2016: British Journal of Cancer
Melanie C Matheson, Michael J Abramson, Katrina Allen, Geza Benke, John A Burgess, James G Dowty, Bircan Erbas, Iain H Feather, Peter A Frith, Graham G Giles, Lyle C Gurrin, Garun S Hamilton, John L Hopper, Alan L James, Mark A Jenkins, David P Johns, Caroline J Lodge, Adrian J Lowe, James Markos, Stephen C Morrison, Jennifer L Perret, Melissa C Southey, Paul S Thomas, Bruce R Thompson, Richard Wood-Baker, Eugene Haydn Walters, Shyamali C Dharmage
No abstract text is available yet for this article.
June 6, 2016: International Journal of Epidemiology
Marjanka K Schmidt, Frans Hogervorst, Richard van Hien, Sten Cornelissen, Annegien Broeks, Muriel A Adank, Hanne Meijers, Quinten Waisfisz, Antoinette Hollestelle, Mieke Schutte, Ans van den Ouweland, Maartje Hooning, Irene L Andrulis, Hoda Anton-Culver, Natalia N Antonenkova, Antonis C Antoniou, Volker Arndt, Marina Bermisheva, Natalia V Bogdanova, Manjeet K Bolla, Hiltrud Brauch, Hermann Brenner, Thomas Brüning, Barbara Burwinkel, Jenny Chang-Claude, Georgia Chenevix-Trench, Fergus J Couch, Angela Cox, Simon S Cross, Kamila Czene, Alison M Dunning, Peter A Fasching, Jonine Figueroa, Olivia Fletcher, Henrik Flyger, Eva Galle, Montserrat García-Closas, Graham G Giles, Lothar Haeberle, Per Hall, Peter Hillemanns, John L Hopper, Anna Jakubowska, Esther M John, Michael Jones, Elza Khusnutdinova, Julia A Knight, Veli-Matti Kosma, Vessela Kristensen, Andrew Lee, Annika Lindblom, Jan Lubinski, Arto Mannermaa, Sara Margolin, Alfons Meindl, Roger L Milne, Taru A Muranen, Polly A Newcomb, Kenneth Offit, Tjoung-Won Park-Simon, Julian Peto, Paul D P Pharoah, Mark Robson, Anja Rudolph, Elinor J Sawyer, Rita K Schmutzler, Caroline Seynaeve, Julie Soens, Melissa C Southey, Amanda B Spurdle, Harald Surowy, Anthony Swerdlow, Rob A E M Tollenaar, Ian Tomlinson, Amy Trentham-Dietz, Celine Vachon, Qin Wang, Alice S Whittemore, Argyrios Ziogas, Lizet van der Kolk, Heli Nevanlinna, Thilo Dörk, Stig Bojesen, Douglas F Easton
PURPOSE: CHEK2*1100delC is a well-established breast cancer risk variant that is most prevalent in European populations; however, there are limited data on risk of breast cancer by age and tumor subtype, which limits its usefulness in breast cancer risk prediction. We aimed to generate tumor subtype- and age-specific risk estimates by using data from the Breast Cancer Association Consortium, including 44,777 patients with breast cancer and 42,997 controls from 33 studies genotyped for CHEK2*1100delC...
August 10, 2016: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
Luke R Putnam, Morgan K Richards, Brinkley K Sandvall, Richard A Hopper, John H T Waldhausen, Matthew T Harting
BACKGROUND/PURPOSE: Optimal outcomes for necrotizing soft tissue infections (NSTI) depend on rapid diagnosis and management. The Laboratory Risk Indicator for Necrotizing Fasciitis (LRINEC) score is a validated diagnostic tool for adult NSTI, but its value for children remains unknown. We hypothesized that modification of the LRINEC score may increase its diagnostic accuracy for pediatric NSTI. METHODS: We performed a case-control study of pediatric patients (age <18) with NSTI (cases) and patients with severe soft tissue infections prompting surgical consultation (controls)...
June 2016: Journal of Pediatric Surgery
Gordon Fehringer, Peter Kraft, Paul D Pharoah, Rosalind A Eeles, Nilanjan Chatterjee, Fredrick R Schumacher, Joellen M Schildkraut, Sara Lindström, Paul Brennan, Heike Bickeböller, Richard S Houlston, Maria Teresa Landi, Neil Caporaso, Angela Risch, Ali Amin Al Olama, Sonja I Berndt, Edward L Giovannucci, Henrik Grönberg, Zsofia Kote-Jarai, Jing Ma, Kenneth Muir, Meir J Stampfer, Victoria L Stevens, Fredrik Wiklund, Walter C Willett, Ellen L Goode, Jennifer B Permuth, Harvey A Risch, Brett M Reid, Stephane Bezieau, Hermann Brenner, Andrew T Chan, Jenny Chang-Claude, Thomas J Hudson, Jonathan K Kocarnik, Polly A Newcomb, Robert E Schoen, Martha L Slattery, Emily White, Muriel A Adank, Habibul Ahsan, Kristiina Aittomäki, Laura Baglietto, Carl Blomquist, Federico Canzian, Kamila Czene, Isabel Dos-Santos-Silva, A Heather Eliassen, Jonine D Figueroa, Dieter Flesch-Janys, Olivia Fletcher, Montserrat Garcia-Closas, Mia M Gaudet, Nichola Johnson, Per Hall, Aditi Hazra, Rebecca Hein, Albert Hofman, John L Hopper, Astrid Irwanto, Mattias Johansson, Rudolf Kaaks, Muhammad G Kibriya, Peter Lichtner, Jianjun Liu, Eiliv Lund, Enes Makalic, Alfons Meindl, Bertram Müller-Myhsok, Taru A Muranen, Heli Nevanlinna, Petra H Peeters, Julian Peto, Ross L Prentice, Nazneen Rahman, Maria Jose Sanchez, Daniel F Schmidt, Rita K Schmutzler, Melissa C Southey, Rulla Tamimi, Ruth C Travis, Clare Turnbull, Andre G Uitterlinden, Zhaoming Wang, Alice S Whittemore, Xiaohong R Yang, Wei Zheng, Daniel D Buchanan, Graham Casey, David V Conti, Christopher K Edlund, Steven Gallinger, Robert W Haile, Mark Jenkins, Loïc Le Marchand, Li Li, Noralene M Lindor, Stephanie L Schmit, Stephen N Thibodeau, Michael O Woods, Thorunn Rafnar, Julius Gudmundsson, Simon N Stacey, Kari Stefansson, Patrick Sulem, Y Ann Chen, Jonathan P Tyrer, David C Christiani, Yongyue Wei, Hongbing Shen, Zhibin Hu, Xiao-Ou Shu, Kouya Shiraishi, Atsushi Takahashi, Yohan Bossé, Ma'en Obeidat, David Nickle, Wim Timens, Matthew L Freedman, Qiyuan Li, Daniela Seminara, Stephen J Chanock, Jian Gong, Ulrike Peters, Stephen B Gruber, Christopher I Amos, Thomas A Sellers, Douglas F Easton, David J Hunter, Christopher A Haiman, Brian E Henderson, Rayjean J Hung
Identifying genetic variants with pleiotropic associations can uncover common pathways influencing multiple cancers. We took a two-stage approach to conduct genome-wide association studies for lung, ovary, breast, prostate, and colorectal cancer from the GAME-ON/GECCO Network (61,851 cases, 61,820 controls) to identify pleiotropic loci. Findings were replicated in independent association studies (55,789 cases, 330,490 controls). We identified a novel pleiotropic association at 1q22 involving breast and lung squamous cell carcinoma, with eQTL analysis showing an association with ADAM15/THBS3 gene expression in lung...
September 1, 2016: Cancer Research
Timothy H T Cheng, Deborah J Thompson, Tracy A O'Mara, Jodie N Painter, Dylan M Glubb, Susanne Flach, Annabelle Lewis, Juliet D French, Luke Freeman-Mills, David Church, Maggie Gorman, Lynn Martin, Shirley Hodgson, Penelope M Webb, John Attia, Elizabeth G Holliday, Mark McEvoy, Rodney J Scott, Anjali K Henders, Nicholas G Martin, Grant W Montgomery, Dale R Nyholt, Shahana Ahmed, Catherine S Healey, Mitul Shah, Joe Dennis, Peter A Fasching, Matthias W Beckmann, Alexander Hein, Arif B Ekici, Per Hall, Kamila Czene, Hatef Darabi, Jingmei Li, Thilo Dörk, Matthias Dürst, Peter Hillemanns, Ingo Runnebaum, Frederic Amant, Stefanie Schrauwen, Hui Zhao, Diether Lambrechts, Jeroen Depreeuw, 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 Ashton, Geoffrey Otton, Tony Proietto, Tao Liu, Miriam Mints, Emma Tham, Mulin Jun Li, Shun H Yip, Junwen Wang, Manjeet K Bolla, Kyriaki Michailidou, Qin Wang, Jonathan P Tyrer, Malcolm Dunlop, Richard Houlston, Claire Palles, 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, Julie M Cunningham, Paul D P Pharoah, Alison M Dunning, Stacey L Edwards, Douglas F Easton, Ian Tomlinson, Amanda B Spurdle
We conducted a meta-analysis of three endometrial cancer genome-wide association studies (GWAS) and two follow-up phases totaling 7,737 endometrial cancer cases and 37,144 controls of European ancestry. Genome-wide imputation and meta-analysis identified five new risk loci of genome-wide significance at likely regulatory regions on chromosomes 13q22.1 (rs11841589, near KLF5), 6q22.31 (rs13328298, in LOC643623 and near HEY2 and NCOA7), 8q24.21 (rs4733613, telomeric to MYC), 15q15.1 (rs937213, in EIF2AK4, near BMF) and 14q32...
June 2016: Nature Genetics
Kelly-Anne Phillips, Ian M Collins, Roger L Milne, Sue Anne McLachlan, Michael Friedlander, Martha Hickey, Catharyn Stern, John L Hopper, Richard Fisher, Gordon Kannemeyer, Sandra Picken, Charmaine D Smith, Thomas W Kelsey, Richard A Anderson
STUDY QUESTION: Do women with ITALIC! BRCA1 or ITALIC! BRCA2 mutations have reduced ovarian reserve, as measured by circulating anti-Müllerian hormone (AMH) concentration? SUMMARY ANSWER: Women with a germline mutation in ITALIC! BRCA1 have reduced ovarian reserve as measured by AMH. WHAT IS KNOWN ALREADY: The DNA repair enzymes encoded by ITALIC! BRCA1 and ITALIC! BRCA2 are implicated in reproductive aging. Circulating AMH is a biomarker of ovarian reserve and hence reproductive lifespan...
May 2016: Human Reproduction
Richard M Hopper
Medical and surgical management can be used to restore a bull that has suffered a reproductive tract malady. The economic cost of treatment weighed against the bull's replacement value as well as prognosis for recovery is of prime consideration. In turn, early recognition of a treatable condition and immediate initiation of action are factors that impact both treatment cost and prognosis in many cases. Common problems are penile hair rings, fibropapillomas, vesicular adenitis, penile hematoma, and traumatic injury to the prepuce...
July 2016: Veterinary Clinics of North America. Food Animal Practice
Giulia Orlando, Philip J Law, Kimmo Palin, Sari Tuupanen, Alexandra Gylfe, Ulrika Hänninen, Tatiana Cajuso, Tomas Tanskanen, Johanna Kondelin, Eevi Kaasinen, Antti-Pekka Sarin, Jaakko Kaprio, Johan G Eriksson, Harri Rissanen, Paul Knekt, Eero Pukkala, Pekka Jousilahti, Veikko Salomaa, Samuli Ripatti, Aarno Palotie, Heikki Järvinen, Laura Renkonen-Sinisalo, Anna Lepistö, Jan Böhm, Jukka-Pekka Meklin, Nada A Al-Tassan, Claire Palles, Lynn Martin, Ella Barclay, Albert Tenesa, Susan Farrington, Maria N Timofeeva, Brian F Meyer, Salma M Wakil, Harry Campbell, Christopher G Smith, Shelley Idziaszczyk, Timothy S Maughan, Richard Kaplan, Rachel Kerr, David Kerr, Daniel D Buchanan, Aung Ko Win, John Hopper, Mark Jenkins, Noralane M Lindor, Polly A Newcomb, Steve Gallinger, David Conti, Fred Schumacher, Graham Casey, Jussi Taipale, Jeremy P Cheadle, Malcolm G Dunlop, Ian P Tomlinson, Lauri A Aaltonen, Richard S Houlston
To identify new risk loci for colorectal cancer (CRC) we conducted a meta-analysis of seven genome-wide association studies (GWAS) with independent replication, totalling 13,656 CRC cases and 21,667 controls of European ancestry. The combined analysis identified a new risk association for CRC at 2q35 marked by rs992157 (P= 3.15 × 10(-8), odds ratio = 1.10, 95% confidence interval = 1.06-1.13), which is intronic toPNKDandTMBIM1 Intriguingly this susceptibility SNP is in strong LD (r(2)= 0.90,D'= 0.96) with the previously discovered GWAS SNP rs2382817 for inflammatory bowel disease (IBD)...
March 22, 2016: Human Molecular Genetics
Yoshie Yokoyama, Aline Jelenkovic, Reijo Sund, Joohon Sung, John L Hopper, Syuichi Ooki, Kauko Heikkilä, Sari Aaltonen, Adam D Tarnoki, David L Tarnoki, Gonneke Willemsen, Meike Bartels, Toos C E M van Beijsterveldt, Kimberly J Saudino, Tessa L Cutler, Tracy L Nelson, Keith E Whitfield, Jane Wardle, Clare H Llewellyn, Abigail Fisher, Mingguang He, Xiaohu Ding, Morten Bjerregaard-Andersen, Henning Beck-Nielsen, Morten Sodemann, Yun-Mi Song, Sarah Yang, Kayoung Lee, Hoe-Uk Jeong, Ariel Knafo-Noam, David Mankuta, Lior Abramson, S Alexandra Burt, Kelly L Klump, Juan R Ordoñana, Juan F Sánchez-Romera, Lucia Colodro-Conde, Jennifer R Harris, Ingunn Brandt, Thomas Sevenius Nilsen, Jeffrey M Craig, Richard Saffery, Fuling Ji, Feng Ning, Zengchang Pang, Lise Dubois, Michel Boivin, Mara Brendgen, Ginette Dionne, Frank Vitaro, Nicholas G Martin, Sarah E Medland, Grant W Montgomery, Patrik K E Magnusson, Nancy L Pedersen, Anna K Dahl Aslan, Per Tynelius, Claire M A Haworth, Robert Plomin, Esther Rebato, Richard J Rose, Jack H Goldberg, Finn Rasmussen, Yoon-Mi Hur, Thorkild I A Sørensen, Dorret I Boomsma, Jaakko Kaprio, Karri Silventoinen
We analyzed birth order differences in means and variances of height and body mass index (BMI) in monozygotic (MZ) and dizygotic (DZ) twins from infancy to old age. The data were derived from the international CODATwins database. The total number of height and BMI measures from 0.5 to 79.5 years of age was 397,466. As expected, first-born twins had greater birth weight than second-born twins. With respect to height, first-born twins were slightly taller than second-born twins in childhood. After adjusting the results for birth weight, the birth order differences decreased and were no longer statistically significant...
April 2016: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
Jennifer L Perret, Haydn Walters, David Johns, Lyle Gurrin, John Burgess, Adrian Lowe, Bruce Thompson, James Markos, Stephen Morrison, Paul Thomas, Christine McDonald, Richard Wood-Baker, John Hopper, Cecilie Svanes, Graham Giles, Michael Abramson, Melanie Matheson, Shyamali Dharmage
BACKGROUND AND OBJECTIVE: Existing evidence that supports maternal smoking to be a potential risk factor for chronic obstructive pulmonary disease (COPD) for adult offspring has barely been mentioned in major guideline documents, suggesting a need for more robust and consistent data. We aimed to examine whether such early life exposure can predispose to COPD in middle age, possibly through its interaction with personal smoking. METHODS: The fifth-decade follow-up of the Tasmanian Longitudinal Health Study cohort, which was first studied in 1968 (n = 8583), included a 2004 postal survey (n = 5729 responses) and subsequent laboratory attendance (n = 1389) for comprehensive lung function testing between 2006 and 2008...
July 2016: Respirology: Official Journal of the Asian Pacific Society of Respirology
Alison M Dunning, Kyriaki Michailidou, Karoline B Kuchenbaecker, Deborah Thompson, Juliet D French, Jonathan Beesley, Catherine S Healey, Siddhartha Kar, Karen A Pooley, Elena Lopez-Knowles, Ed Dicks, Daniel Barrowdale, Nicholas A Sinnott-Armstrong, Richard C Sallari, Kristine M Hillman, Susanne Kaufmann, Haran Sivakumaran, Mahdi Moradi Marjaneh, Jason S Lee, Margaret Hills, Monika Jarosz, Suzie Drury, Sander Canisius, Manjeet K Bolla, Joe Dennis, Qin Wang, John L Hopper, Melissa C Southey, Annegien Broeks, Marjanka K Schmidt, Artitaya Lophatananon, Kenneth Muir, Matthias W Beckmann, Peter A Fasching, Isabel Dos-Santos-Silva, Julian Peto, Elinor J Sawyer, Ian Tomlinson, Barbara Burwinkel, Frederik Marme, Pascal Guénel, Thérèse Truong, Stig E Bojesen, Henrik Flyger, Anna González-Neira, Jose I A Perez, Hoda Anton-Culver, Lee Eunjung, Volker Arndt, Hermann Brenner, Alfons Meindl, Rita K Schmutzler, Hiltrud Brauch, Ute Hamann, Kristiina Aittomäki, Carl Blomqvist, Hidemi Ito, Keitaro Matsuo, Natasha Bogdanova, Thilo Dörk, Annika Lindblom, Sara Margolin, Veli-Matti Kosma, Arto Mannermaa, Chiu-Chen Tseng, Anna H Wu, Diether Lambrechts, Hans Wildiers, Jenny Chang-Claude, Anja Rudolph, Paolo Peterlongo, Paolo Radice, Janet E Olson, Graham G Giles, Roger L Milne, Christopher A Haiman, Brian E Henderson, Mark S Goldberg, Soo H Teo, Cheng Har Yip, Silje Nord, Anne-Lise Borresen-Dale, Vessela Kristensen, Jirong Long, Wei Zheng, Katri Pylkäs, Robert Winqvist, Irene L Andrulis, Julia A Knight, Peter Devilee, Caroline Seynaeve, Jonine Figueroa, Mark E Sherman, Kamila Czene, Hatef Darabi, Antoinette Hollestelle, Ans M W van den Ouweland, Keith Humphreys, Yu-Tang Gao, Xiao-Ou Shu, Angela Cox, Simon S Cross, William Blot, Qiuyin Cai, Maya Ghoussaini, Barbara J Perkins, Mitul Shah, Ji-Yeob Choi, Daehee Kang, Soo Chin Lee, Mikael Hartman, Maria Kabisch, Diana Torres, Anna Jakubowska, Jan Lubinski, Paul Brennan, Suleeporn Sangrajrang, Christine B Ambrosone, Amanda E Toland, Chen-Yang Shen, Pei-Ei Wu, Nick Orr, Anthony Swerdlow, Lesley McGuffog, Sue Healey, Andrew Lee, Miroslav Kapuscinski, Esther M John, Mary Beth Terry, Mary B Daly, David E Goldgar, Saundra S Buys, Ramunas Janavicius, Laima Tihomirova, Nadine Tung, Cecilia M Dorfling, Elizabeth J van Rensburg, Susan L Neuhausen, Bent Ejlertsen, Thomas V O Hansen, Ana Osorio, Javier Benitez, Rachel Rando, Jeffrey N Weitzel, Bernardo Bonanni, Bernard Peissel, Siranoush Manoukian, Laura Papi, Laura Ottini, Irene Konstantopoulou, Paraskevi Apostolou, Judy Garber, Muhammad Usman Rashid, Debra Frost, Louise Izatt, Steve Ellis, Andrew K Godwin, Norbert Arnold, Dieter Niederacher, Kerstin Rhiem, Nadja Bogdanova-Markov, Charlotte Sagne, Dominique Stoppa-Lyonnet, Francesca Damiola, Olga M Sinilnikova, Sylvie Mazoyer, Claudine Isaacs, Kathleen B M Claes, Kim De Leeneer, Miguel de la Hoya, Trinidad Caldes, Heli Nevanlinna, Sofia Khan, Arjen R Mensenkamp, Maartje J Hooning, Matti A Rookus, Ava Kwong, Edith Olah, Orland Diez, Joan Brunet, Miquel Angel Pujana, Jacek Gronwald, Tomasz Huzarski, Rosa B Barkardottir, Rachel Laframboise, Penny Soucy, Marco Montagna, Simona Agata, Manuel R Teixeira, Sue Kyung Park, Noralane Lindor, Fergus J Couch, Marc Tischkowitz, Lenka Foretova, Joseph Vijai, Kenneth Offit, Christian F Singer, Christine Rappaport, Catherine M Phelan, Mark H Greene, Phuong L Mai, Gad Rennert, Evgeny N Imyanitov, Peter J Hulick, Kelly-Anne Phillips, Marion Piedmonte, Anna Marie Mulligan, Gord Glendon, Anders Bojesen, Mads Thomassen, Maria A Caligo, Sook-Yee Yoon, Eitan Friedman, Yael Laitman, Ake Borg, Anna von Wachenfeldt, Hans Ehrencrona, Johanna Rantala, Olufunmilayo I Olopade, Patricia A Ganz, Robert L Nussbaum, Simon A Gayther, Katherine L Nathanson, Susan M Domchek, Banu K Arun, Gillian Mitchell, Beth Y Karlan, Jenny Lester, Gertraud Maskarinec, Christy Woolcott, Christopher Scott, Jennifer Stone, Carmel Apicella, Rulla Tamimi, Robert Luben, Kay-Tee Khaw, Åslaug Helland, Vilde Haakensen, Mitch Dowsett, Paul D P Pharoah, Jacques Simard, Per Hall, Montserrat García-Closas, Celine Vachon, Georgia Chenevix-Trench, Antonis C Antoniou, Douglas F Easton, Stacey L Edwards
We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor α) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, each associated with different phenotype sets, including estrogen receptor (ER(+) or ER(-)) and human ERBB2 (HER2(+) or HER2(-)) tumor subtypes, mammographic density and tumor grade. The best candidate causal variants for ER(-) tumors lie in four separate enhancer elements, and their risk alleles reduce expression of ESR1, RMND1 and CCDC170, whereas the risk alleles of the strongest candidates for the remaining independent causal variant disrupt a silencer element and putatively increase ESR1 and RMND1 expression...
April 2016: Nature Genetics
Xabier Garcia-Albeniz, Anja Rudolph, Carolyn Hutter, Emily White, Yi Lin, Stephanie A Rosse, Jane C Figueiredo, Tabitha A Harrison, Shuo Jiao, Hermann Brenner, Graham Casey, Thomas J Hudson, Mark Thornquist, Loic Le Marchand, John Potter, Martha L Slattery, Brent Zanke, John A Baron, Bette J Caan, Stephen J Chanock, Sonja I Berndt, Deanna Stelling, Charles S Fuchs, Michael Hoffmeister, Katja Butterbach, Mengmeng Du, W James Gauderman, Marc J Gunter, Mathieu Lemire, Shuji Ogino, Jennifer Lin, Richard B Hayes, Robert W Haile, Robert E Schoen, Greg S Warnick, Mark A Jenkins, Stephen N Thibodeau, Fredrick R Schumacher, Noralane M Lindor, Laurence N Kolonel, John L Hopper, Jian Gong, Daniela Seminara, Bethann M Pflugeisen, Cornelia M Ulrich, Conghui Qu, David Duggan, Michelle Cotterchio, Peter T Campbell, Christopher S Carlson, Polly A Newcomb, Edward Giovannucci, Li Hsu, Andrew T Chan, Ulrike Peters, Jenny Chang-Claude
BACKGROUND: Menopausal hormone therapy (MHT) use has been consistently associated with a decreased risk of colorectal cancer (CRC) in women. Our aim was to use a genome-wide gene-environment interaction analysis to identify genetic modifiers of CRC risk associated with use of MHT. METHODS: We included 10 835 postmenopausal women (5419 cases and 5416 controls) from 10 studies. We evaluated use of any MHT, oestrogen-only (E-only) and combined oestrogen-progestogen (E+P) hormone preparations...
January 19, 2016: British Journal of Cancer
Gillian S Dite, Robert J MacInnis, Adrian Bickerstaffe, James G Dowty, Richard Allman, Carmel Apicella, Roger L Milne, Helen Tsimiklis, Kelly-Anne Phillips, Graham G Giles, Mary Beth Terry, Melissa C Southey, John L Hopper
BACKGROUND: The extent to which clinical breast cancer risk prediction models can be improved by including information on known susceptibility SNPs is not known. METHODS: Using 750 cases and 405 controls from the population-based Australian Breast Cancer Family Registry who were younger than 50 years at diagnosis and recruitment, respectively, Caucasian and not BRCA1 or BRCA2 mutation carriers, we derived absolute 5-year risks of breast cancer using the BOADICEA, BRCAPRO, BCRAT, and IBIS risk prediction models and combined these with a risk score based on 77 independent risk-associated SNPs...
February 2016: Cancer Epidemiology, Biomarkers & Prevention
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