Isabel dos‐Santos‐Silva

ORCID: 0000-0002-6596-8798
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Research Areas
  • Global Cancer Incidence and Screening
  • BRCA gene mutations in cancer
  • Cancer Risks and Factors
  • Digital Radiography and Breast Imaging
  • Genetic Associations and Epidemiology
  • AI in cancer detection
  • Cancer Immunotherapy and Biomarkers
  • Estrogen and related hormone effects
  • Immunotherapy and Immune Responses
  • Breast Cancer Treatment Studies
  • Nutrition, Genetics, and Disease
  • Cancer Genomics and Diagnostics
  • Colorectal Cancer Screening and Detection
  • Birth, Development, and Health
  • Genomics and Chromatin Dynamics
  • Bioinformatics and Genomic Networks
  • Health, Environment, Cognitive Aging
  • Cervical Cancer and HPV Research
  • Ferroptosis and cancer prognosis
  • Nutritional Studies and Diet
  • Genetic factors in colorectal cancer
  • HER2/EGFR in Cancer Research
  • Genomic variations and chromosomal abnormalities
  • Gene expression and cancer classification
  • Economic and Financial Impacts of Cancer

London School of Hygiene & Tropical Medicine
2016-2025

Cairo University
2024

University of London
2008-2020

Peking University
2020

Peking University Cancer Hospital
2020

Universidad de Londres
2018

University Hospital Heidelberg
2012-2015

University Medical Center Hamburg-Eppendorf
2012-2015

Cancer Research Center
2012-2015

Institute of Cancer Research
2004-2015

Kyriaki Michailidou Sara Lindström Joe Dennis Jonathan Beesley Shirley Hui and 95 more Siddhartha Kar Audrey Lemaçon Penny Soucy Dylan M. Glubb Asha Rostamianfar Manjeet K. Bolla Qin Wang Jonathan P. Tyrer Ed Dicks Andrew Lee Zhaoming Wang Jamie Allen Renske Keeman Ursula Eilber Juliet D. French Xiaohong Chen Laura Fachal Karen McCue Amy E. McCart Reed Maya Ghoussaini Jason S. Carroll Xia Jiang Hilary K. Finucane Marcia Adams Muriel A. Adank Habibul Ahsan Kristiina Aittomäki Hoda Anton‐Culver Natalia Antonenkova Volker Arndt Kristan J. Aronson Banu K. Arun Paul L. Auer François Bacot Myrto Barrdahl Caroline Baynes Matthias W. Beckmann Sabine Behrens Javier Benı́tez Marina Bermisheva Leslie Bernstein Carl Blomqvist Natalia Bogdanova Stig E. Bojesen Bernardo Bonanni Anne‐Lise Børresen‐Dale Judith S. Brand Hiltrud Brauch Paul Brennan Hermann Brenner Louise A. Brinton Per Broberg Ian W. Brock Annegien Broeks Angela Brooks‐Wilson Sara Y. Brucker Thomas Brüning Barbara Burwinkel Katja Butterbach Qiuyin Cai Hui Cai Trinidad Caldés Federico Canzian Ángel Carracedo Brian D. Carter Jose E. Castelao Tsun Leung Chan Ting‐Yuan David Cheng Kee Seng Chia Ji‐Yeob Choi Hans Christiansen Christine L. Clarke Margriet Collée Don Conroy Emilie Cordina‐Duverger Sten Cornelissen David G. Cox Angela Cox Simon S. Cross Julie M. Cunningham Kamila Czene Mary B. Daly Peter Devilee Kimberly F. Doheny Thilo Dörk Isabel dos‐Santos‐Silva Martine Dumont Lorraine Durcan Miriam Dwek Diana Eccles Arif B. Ekici A. Heather Eliassen Carolina Ellberg Mingajeva Elvira Christoph Engel

10.1038/nature24284 article EN Nature 2017-10-20
Kyriaki Michailidou Per Hall Anna González‐Neira Maya Ghoussaini Joe Dennis and 95 more Roger L. Milne Marjanka K. Schmidt Jenny Chang‐Claude Stig E. Bojesen Manjeet K. Bolla Qin Wang Ed Dicks Andrew Lee Clare Turnbull Nazneen Rahman Olivia Fletcher Julian Peto Lorna J. Gibson Isabel dos‐Santos‐Silva Heli Nevanlinna Taru Muranen Kristiina Aittomäki Carl Blomqvist Kamila Czene Astrid Irwanto Jianjun Liu Quinten Waisfisz Hanne Meijers‐Heijboer Muriel A. Adank Rob B. van der Luijt Rebecca Hein Norbert Dahmen L. Beckman Alfons Meindl Rita K. Schmutzler Bertram Müller‐Myhsok Peter Lichtner John L. Hopper Melissa C. Southey Enes Makalic Daniel F. Schmidt André G. Uitterlinden Albert Hofman David J. Hunter Stephen J. Chanock Daniel Vincent François Bacot Daniel C. Tessier Sander Canisius Lodewyk F.A. Wessels Christopher A. Haiman Mitul Shah Robert Luben Judith Brown Craig Luccarini Nils Schoof Keith Humphreys Jingmei Li Børge G. Nordestgaard Sune F. Nielsen Henrik Flyger Fergus J. Couch Xianshu Wang Celine M. Vachon Kristen N. Stevens Diether Lambrechts Matthieu Moisse Robert Paridaens Marie‐Rose Christiaens Anja Rudolph Stefan Nickels Dieter Flesch‐Janys Nichola Johnson Zoe Aitken Kirsimari Aaltonen Tuomas Heikkinen Annegien Broeks Laura J. van’t Veer C. Ellen van der Schoot Pascal Guénel Thérèse Truong Pierre Laurent–Puig F. Ménégaux Frederik Marmé Andreas Schneeweiß Christof Sohn Barbara Burwinkel M. Pilar Zamora José Ignacio Arias Pérez Guillermo Pita M. Rosario Alonso Angela Cox Ian W. Brock Simon S. Cross Malcolm Reed Elinor J. Sawyer Ian Tomlinson Michael J. Kerin Nicola Miller Brian E. Henderson

10.1038/ng.2563 article EN Nature Genetics 2013-03-27

BMI is known to be strongly associated with all-cause mortality, but few studies have been large enough reliably examine associations between and a comprehensive range of cause-specific mortality outcomes.

10.1016/s2213-8587(18)30288-2 article EN cc-by The Lancet Diabetes & Endocrinology 2018-10-30
Nasim Mavaddat Kyriaki Michailidou Joe Dennis Michael Lush Laura Fachal and 95 more Andrew Lee Jonathan P. Tyrer Ting‐Huei Chen Qin Wang Manjeet K. Bolla Xin Yang Muriel A. Adank Thomas U. Ahearn Kristiina Aittomäki Jamie Allen Irene L. Andrulis Hoda Anton‐Culver Natalia Antonenkova Volker Arndt Kristan J. Aronson Paul L. Auer Päivi Auvinen Myrto Barrdahl Laura E. Beane Freeman Matthias W. Beckmann Sabine Behrens Javier Benı́tez Marina Bermisheva Leslie Bernstein Carl Blomqvist Natalia Bogdanova Stig E. Bojesen Bernardo Bonanni Anne‐Lise Børresen‐Dale Hiltrud Brauch Michael Bremer Hermann Brenner Adam R. Brentnall Ian W. Brock Angela Brooks‐Wilson Sara Y. Brucker Thomas Brüning Barbara Burwinkel Daniele Campa Brian D. Carter Jose E. Castelao Stephen J. Chanock Rowan T. Chlebowski Hans Christiansen Christine L. Clarke J. Margriet Collée Emilie Cordina‐Duverger Sten Cornelissen Fergus J. Couch Angela Cox Simon S. Cross Kamila Czene Mary B. Daly Peter Devilee Thilo Dörk Isabel dos‐Santos‐Silva Martine Dumont Lorraine Durcan Miriam Dwek Diana Eccles Arif B. Ekici A. Heather Eliassen Carolina Ellberg Christoph Engel Mikael Eriksson D. Gareth Evans Peter A. Fasching Jonine D. Figueroa Olivia Fletcher Henrik Flyger Asta Försti Lin Fritschi Marike Gabrielson Manuela Gago‐Dominguez Susan M. Gapstur José A. García‐Sáenz Mia M. Gaudet V. Georgoulias Graham G. Giles I. R. Gilyazova Gord Glendon Mark S. Goldberg David E. Goldgar Anna González‐Neira Grethe I.G. Alnæs Mervi Grip Jacek Gronwald Anne Grundy Pascal Guénel Lothar Haeberle Eric Hahnen Christopher A. Haiman Niclas Håkansson Ute Hamann Susan E. Hankinson

Stratification of women according to their risk breast cancer based on polygenic scores (PRSs) could improve screening and prevention strategies. Our aim was develop PRSs, optimized for prediction estrogen receptor (ER)-specific disease, from the largest available genome-wide association dataset empirically validate PRSs in prospective studies. The development comprised 94,075 case subjects 75,017 control European ancestry 69 studies, divided into training validation sets. Samples were...

10.1016/j.ajhg.2018.11.002 article EN cc-by-nc-nd The American Journal of Human Genetics 2018-12-13
Liisa M. Pelttari Sofia Khan Mikko Vuorela Johanna I. Kiiski Sara Vilske and 92 more Viivi Nevanlinna Salla Ranta Johanna Schleutker Robert Winqvist Anne Kallioniemi Thilo Dörk Natalia Bogdanova Jonine D. Figueroa Paul D.P. Pharoah Marjanka K. Schmidt Alison M. Dunning Montserrat García‐Closas Manjeet K. Bolla Joe Dennis Kyriaki Michailidou Sophia Wang John L. Hopper Melissa C. Southey Efraim H. Rosenberg Peter A. Fasching Matthias W. Beckmann Julian Peto Isabel dos‐Santos‐Silva Elinor J. Sawyer Ian Tomlinson Barbara Burwinkel Harald Surowy Pascal Guénel Thérèse Truong Stig E. Bojesen Børge G. Nordestgaard Javier Benı́tez Anna González‐Neira Susan L. Neuhausen Hoda Anton‐Culver Hermann Brenner Volker Arndt Alfons Meindl Rita K. Schmutzler Hiltrud Brauch Thomas Brüning Annika Lindblom Sara Margolin Graham J. Mann Jaana M. Hartikainen Georgia Chenevix‐Trench Laurien Van Dyck Hilde Janssen Jenny Chang-Claude Anja Rudolph Paolo Radice Paolo Peterlongo Emily Hallberg Janet E. Olson Graham G. Giles Roger L. Milne Christopher A. Haiman Fredrick R. Schumacher Jacques Simard Martine Dumont Vessela Kristensen Anne‐Lise Børresen‐Dale Wei Zheng Alicia Beeghly‐Fadiel Mervi Grip Irene L. Andrulis Gord Glendon Peter Devilee Caroline Seynaeve Maartje J. Hooning Margriet Collée Angela Cox Simon S. Cross Mitul Shah Robert Luben Ute Hamann Diana Torres Anna Jakubowska Jan Lubiński Fergus J. Couch Drakoulis Yannoukakos Nick Orr Anthony J. Swerdlow Hatef Darabi Jingmei Li Kamila Czene Per Hall Douglas F. Easton Johanna Mattson Carl Blomqvist Kristiina Aittomäki Heli Nevanlinna

Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 the risk of female cancer rs1314913 male cancer. The aim this study was investigate role RAD51B variants in predisposition, particularly context familial Finland. We sequenced coding region 168 Finnish patients from Helsinki for identification possible recurrent founder mutations. In addition, we studied known rs999737, rs2588809, SNPs haplotypes 44,791 cases 43,583 controls 40...

10.1371/journal.pone.0153788 article EN public-domain PLoS ONE 2016-05-05
Sofia Khan Dario Greco Kyriaki Michailidou Roger L. Milne Taru Muranen and 95 more Tuomas Heikkinen Kirsimari Aaltonen Joe Dennis Manjeet K. Bolla Jianjun Liu Per Hall Astrid Irwanto Keith Humphreys Jingmei Li Kamila Czene Jenny Chang‐Claude Rebecca Hein Anja Rudolph Petra Seibold Dieter Flesch‐Janys Olivia Fletcher Julian Peto Isabel dos‐Santos‐Silva Nichola Johnson Lorna J. Gibson Zoe Aitken John L. Hopper Helen Tsimiklis Minh Bui Enes Makalic Daniel F. Schmidt Melissa C. Southey Carmel Apicella Jennifer Stone Quinten Waisfisz Hanne Meijers‐Heijboer Muriel A. Adank Rob B. van der Luijt Alfons Meindl Rita K. Schmutzler Bertram Müller‐Myhsok Peter Lichtner Clare Turnbull Nazneen Rahman Stephen J. Chanock David J. Hunter Angela Cox Simon S. Cross Malcolm Reed Marjanka K. Schmidt Annegien Broeks Laura J. V. a. n't. Veer Frans B.L. Hogervorst Peter A. Fasching Michael Schrauder Arif B. Ekici Matthias W. Beckmann Stig E. Bojesen Børge G. Nordestgaard Sune F. Nielsen Henrik Flyger Javier Benı́tez Pilar Zamora José Ignacio Arias Pérez Christopher A. Haiman Brian E. Henderson Fredrick R. Schumacher Loı̈c Le Marchand Paul D.P. Pharoah Alison M. Dunning Mitul Shah Robert Luben Judith Brown Fergus J. Couch Xianshu Wang Celine M. Vachon Janet E. Olson Diether Lambrechts Matthieu Moisse Robert Paridaens Marie-Rose Christiaens Pascal Guénel Thérèse Truong Pierre Laurent–Puig Claire Mulot F. Marmé Barbara Burwinkel Andreas Schneeweiß Christof Sohn Elinor J. Sawyer Ian Tomlinson Michael J. Kerin Nicola Miller Irene L. Andrulis Julia A. Knight Sandrine Tchatchou Anna Marie Mulligan Thilo Dörk Natalia Bogdanova Natalia Antonenkova

Genetic variations, such as single nucleotide polymorphisms (SNPs) in microRNAs (miRNA) or the miRNA binding sites may affect dependent gene expression regulation, which has been implicated various cancers, including breast cancer, and alter individual susceptibility to cancer. We investigated associations between related SNPs cancer risk. First we evaluated 2,196 a case-control study combining nine genome wide association studies (GWAS). Second, further 42 with suggestive evidence for using...

10.1371/journal.pone.0109973 article EN cc-by PLoS ONE 2014-11-12

10.1038/ng1981 article EN Nature Genetics 2007-02-11
Felix R. Day Deborah J. Thompson Hannes Helgason Daniel I. Chasman Hilary K. Finucane and 95 more Patrick Sulem Katherine S. Ruth Sean Whalen Abhishek Sarkar Eva Albrecht Elisabeth Altmaier Marzyeh Amini Caterina Barbieri Thibaud Boutin Archie Campbell Ellen W. Demerath Ayush Giri Chunyan He Jouke‐Jan Hottenga Robert Karlsson Ivana Kolčić Po−Ru Loh Kathryn L. Lunetta Massimo Mangino Marco Brumat George McMahon Sarah E. Medland Ilja M. Nolte Raymond Noordam Teresa Nutile Lavinia Paternoster Natalia Perjakova Eleonora Porcu Lynda M. Rose Katharina E. Schraut Ayellet V. Segrè Albert V. Smith Lisette Stolk Alexander Teumer Irene L. Andrulis Stefania Bandinelli Matthias W. Beckmann Javier Benı́tez Sven Bergmann Murielle Bochud Eric Boerwinkle Stig E. Bojesen Manjeet K. Bolla Judith S. Brand Hiltrud Brauch Hermann Brenner Linda Broer Thomas Brüning Julie E. Buring Harry Campbell Eulalia Catamo Stephen J. Chanock Georgia Chenevix‐Trench Tanguy Corre Fergus J. Couch Diana L. Cousminer Angela Cox Laura Crisponi Kamila Czene George Davey Smith Eco J. C. de Geus Renée de Mutsert Immaculata De Vivo Joe Dennis Peter Devilee Isabel dos‐Santos‐Silva Alison M. Dunning Johan G. Eriksson Peter A. Fasching Lindsay Fernández‐Rhodes Luigi Ferrucci Dieter Flesch‐Janys Lude Franke Marike Gabrielson Ilaria Gandin Graham G. Giles Harald Grallert Daníel F. Guðbjartsson Pascal Guénel Per Hall Emily Hallberg Ute Hamann Tamara B. Harris Catharina A. Hartman Gerardo Heiss Maartje J. Hooning John L. Hopper Frank B. Hu David J. Hunter M. Arfan Ikram Hae Kyung Im Marjo‐Riitta Järvelin Peter K. Joshi David Karasik Manolis Kellis

10.1038/ng.3841 article EN Nature Genetics 2017-04-24
Nasim Mavaddat Paul D.P. Pharoah Kyriaki Michailidou Jonathan P. Tyrer Mark N. Brook and 95 more Manjeet K. Bolla Qin Wang Joe Dennis Alison M. Dunning Mitul Shah Robert Luben Judith Brown Stig E. Bojesen Børge G. Nordestgaard Sune F. Nielsen Henrik Flyger Kamila Czene Hatef Darabi Mikael Eriksson Julian Peto Isabel dos‐Santos‐Silva Frank Dudbridge Nichola Johnson Marjanka K. Schmidt Annegien Broeks Senno Verhoef Emiel J. Rutgers Anthony J. Swerdlow Alan Ashworth Nick Orr Minouk J. Schoemaker Jonine D. Figueroa Stephen J. Chanock Louise A. Brinton Jolanta Lissowska Fergus J. Couch Janet E. Olson Celine M. Vachon V. Shane Pankratz Diether Lambrechts Hans Wildiers Chantal Van Ongeval Erik Van Limbergen Vessela Kristensen Grethe Grenaker Alnæs Silje Nord Anne‐Lise Børresen‐Dale Heli Nevanlinna Taru Muranen Kristiina Aittomäki Carl Blomqvist Jenny Chang‐Claude Anja Rudolph Petra Seibold Dieter Flesch‐Janys Peter A. Fasching Lothar Haeberle Arif B. Ekici Matthias W. Beckmann Barbara Burwinkel Frederik Marmé Andreas Schneeweiß Christof Sohn Amy Trentham‐Dietz Polly A. Newcomb Linda Titus Kathleen M. Egan David J. Hunter Sara Lindström Rulla M. Tamimi Peter Kraft Nazneen Rahman Clare Turnbull Anthony Renwick Sheila Seal Jingmei Li Jianjun Liu Keith Humphreys Javier Benı́tez M. Pilar Zamora José Ignacio Arias Pérez Primitiva Menéndez Anna Jakubowska Jan Lubiński Katarzyna Jaworska–Bieniek Katarzyna Durda Natalia Bogdanova Natalia Antonenkova Thilo Dörk Hoda Anton‐Culver Susan L. Neuhausen Argyrios Ziogas Leslie Bernstein Peter Devilee Robert A.E.M. Tollenaar Caroline Seynaeve Christi J. van Asperen Angela Cox Simon S. Cross Malcolm Reed

Data for multiple common susceptibility alleles breast cancer may be combined to identify women at different levels of risk. Such stratification could guide preventive and screening strategies. However, empirical evidence genetic risk is lacking. We investigated the value using 77 cancer-associated single nucleotide polymorphisms (SNPs) stratification, in a study 33 673 cases 381 control European origin. tested all possible pair-wise multiplicative interactions constructed 77-SNP polygenic...

10.1093/jnci/djv036 article EN cc-by JNCI Journal of the National Cancer Institute 2015-04-02
Shahana Ahmed Gilles Thomas Maya Ghoussaini Catherine S. Healey Manjeet K. Humphreys and 95 more Radka Platte Jonathan J. Morrison Melanie Maranian Karen A. Pooley Robert Luben Diana Eccles D. Gareth Evans Olivia Fletcher Nichola Johnson Isabel dos‐Santos‐Silva Julian Peto Michael R. Stratton Nazneen Rahman Kevin B. Jacobs Ross L. Prentice Garnet L. Anderson Aleksandar Rajkovic J. David Curb Regina G. Ziegler Christine D. Berg Saundra S. Buys Catherine A. McCarty Heather Spencer Feigelson Eugenia E. Calle Michael J. Thun W. Ryan Diver Stig E. Bojesen Børge G. Nordestgaard Henrik Flyger Thilo Dörk Peter Schürmann Peter Hillemanns Johann H. Karstens Natalia Bogdanova Natalia Antonenkova Iosif V. Zalutsky Marina Bermisheva С.А. Федорова Э. К. Хуснутдинова Daehee Kang Keun-Young Yoo Dong‐Young Noh Sei-Hyun Ahn Peter Devilee Christi J. van Asperen Robert A.E.M. Tollenaar Caroline Seynaeve Montserrat García‐Closas Jolanta Lissowska Louise A. Brinton Beata Pepłońska Heli Nevanlinna Tuomas Heikkinen Kristiina Aittomäki Carl Blomqvist John L. Hopper Melissa C. Southey Letitia Smith Amanda B. Spurdle Marjanka K. Schmidt Annegien Broeks Richard R van Hien Sten Cornelissen Roger L. Milne Glòria Ribas Anna González‐Neira Javier Benı́tez Rita K. Schmutzler Barbara Burwinkel Claus R. Bartram Alfons Meindl Hiltrud Brauch Christina Justenhoven Ute Hamann Jenny Chang‐Claude Rebecca Hein Shan Wang‐Gohrke Annika Lindblom Sara Margolin Graham J. Mann Veli-Matti Kosma Vesa Kataja Janet E. Olson Xianshu Wang Zachary Fredericksen Graham G. Giles Gianluca Severi Laura Baglietto Dallas R. English Susan E. Hankinson David G. Cox Peter Kraft Lars J. Vatten Kristian Hveem Merethe Kumle

10.1038/ng.354 article EN Nature Genetics 2009-03-29
Montserrat García‐Closas Fergus J. Couch Sara Lindström Kyriaki Michailidou Marjanka K. Schmidt and 95 more Mark N. Brook Nick Orr Suhn K. Rhie Elio Ríboli Heather Spencer Feigelson Loı̈c Le Marchand Julie E. Buring Diana Eccles Penelope Miron Peter A. Fasching Hiltrud Brauch Jenny Chang‐Claude Jane Carpenter Andrew K. Godwin Heli Nevanlinna Graham G. Giles Angela Cox John L. Hopper Manjeet K. Bolla Qin Wang Joe Dennis Ed Dicks Will J Howat Nils Schoof Stig E. Bojesen Diether Lambrechts Annegien Broeks Irene L. Andrulis Pascal Guénel Barbara Burwinkel Elinor J. Sawyer Antoinette Hollestelle Olivia Fletcher Robert Winqvist Hermann Brenner Graham J. Mann Ute Hamann Alfons Meindl Annika Lindblom Wei Zheng Peter Devillee Mark S. Goldberg Jan Lubiński Vessela N. Kristensen Anthony J. Swerdlow Hoda Anton‐Culver Thilo Dörk Kenneth Muir Keitaro Matsuo Anna H. Wu Paolo Radice Soo‐Hwang Teo Xiao‐Ou Shu William J. Blot Daehee Kang Mikael Hartman Suleeporn Sangrajrang Chen‐Yang Shen Melissa C. Southey Daniel J. Park Fleur Hammet Jennifer Stone Laura J. van’t Veer Emiel J. Rutgers Artitaya Lophatananon Sarah Stewart‐Brown Pornthep Siriwanarangsan Julian Peto Michael Schrauder Arif B. Ekici Matthias W. Beckmann Isabel dos‐Santos‐Silva Nichola Johnson Helen R. Warren Ian Tomlinson Michael J. Kerin Nicola Miller F Marmé Andreas Schneeweiß Christof Sohn Thérèse Truong Pierre Laurent–Puig Pierre Kerbrat Børge G. Nordestgaard Sune F. Nielsen Henrik Flyger Roger L. Milne José Ignacio Arias Pérez Primitiva Menéndez Heiko Müller Volker Arndt Christa Stegmaier Peter Lichtner Magdalena Lochmann Christina Justenhoven

10.1038/ng.2561 article EN Nature Genetics 2013-03-27
Felix R. Day Katherine S. Ruth Deborah J. Thompson Kathryn L. Lunetta Natalia Pervjakova and 95 more Daniel I. Chasman Lisette Stolk Hilary K. Finucane Patrick Sulem Brendan Bulik‐Sullivan Tõnu Esko Andrew D. Johnson Cathy E. Elks Nora Franceschini Chunyan He Elisabeth Altmaier Jennifer A. Brody Lude Franke Jennifer E. Huffman Margaux F. Keller Patrick F. McArdle Teresa Nutile Eleonora Porcu Antonietta Robino Lynda M. Rose Ursula M. Schick Jennifer A. Smith Alexander Teumer Michela Traglia Dragana Vuckovic Jie Yao Wei Zhao Eva Albrecht Najaf Amin Tanguy Corre Jouke‐Jan Hottenga Massimo Mangino Albert V. Smith Toshiko Tanaka Gonçalo R. Abecasis Irene L. Andrulis Hoda Anton‐Culver Antonis C. Antoniou Volker Arndt Alice M. Arnold Caterina Barbieri Matthias W. Beckmann Alicia Beeghly‐Fadiel Javier Benı́tez Leslie Bernstein Suzette J. Bielinski Carl Blomqvist Eric Boerwinkle Natalia Bogdanova Stig E. Bojesen Manjeet K. Bolla Anne‐Lise Børresen‐Dale Thibaud Boutin Hiltrud Brauch Hermann Brenner Thomas Brüning Barbara Burwinkel Archie Campbell Harry Campbell Stephen J. Chanock J. Ross Chapman Yii-Der Ida Chen Georgia Chenevix‐Trench Fergus J. Couch Andrea D. Coviello Angela Cox Kamila Czene Hatef Darabi Immaculata De Vivo Ellen W. Demerath Joe Dennis Peter Devilee Thilo Dörk Isabel dos‐Santos‐Silva Alison M. Dunning John D. Eicher Peter A. Fasching Jessica D. Faul Jonine D. Figueroa Dieter Flesch‐Janys Ilaria Gandin Melissa E. Garcia Montserrat García‐Closas Graham G. Giles Giorgia Girotto Mark S. Goldberg Anna González‐Neira Mark O. Goodarzi Megan L. Grove Daníel F. Guðbjartsson Pascal Guénel Xiuqing Guo Christopher A. Haiman Per Hall Ute Hamann

10.1038/ng.3412 article EN Nature Genetics 2015-09-28

The past few decades have seen substantial improvements in cancer survival, but concerns exist about long-term cardiovascular disease risk survivors. Evidence is scarce on the risks of specific diseases survivors a wide range cancers to inform prevention and management. In this study, we used large-scale electronic health records data from multiple linked UK databases address these evidence gaps.

10.1016/s0140-6736(19)31674-5 article EN cc-by The Lancet 2019-08-20
Christopher A. Haiman Gary K. Chen Celine M. Vachon Federico Canzian Alison M. Dunning and 95 more Robert C. Millikan Xianshu Wang Foluso O. Ademuyiwa Shahana Ahmed Christine B. Ambrosone Laura Baglietto Rosemary L. Balleine Elisa V. Bandera Matthias W. Beckmann Christine D. Berg Leslie Bernstein Carl Blomqvist William J. Blot Hiltrud Brauch Julie E. Buring Lisa A. Carey Jane Carpenter Jenny Chang‐Claude Stephen J. Chanock Daniel I. Chasman Christine L. Clarke Angela Cox Simon S. Cross Sandra L. Deming Robert B. Diasio Meletios Α. Dimopoulos W. Ryan Driver Thomas Dünnebier Lorraine Durcan Diana Eccles Christopher K. Edlund Arif B. Ekici Peter A. Fasching Heather Spencer Feigelson Dieter Flesch‐Janys Florentia Fostira Asta Försti George Fountzilas Susan M. Gerty Graham G. Giles Andrew K. Godwin Paul J. Goodfellow Nikki Graham Dario Greco Ute Hamann Susan E. Hankinson Arndt Hartmann Rebecca Hein Judith Heinz Andrea Holbrook Robert N. Hoover Jennifer J. Hu David J. Hunter Sue A. Ingles Astrid Irwanto Jennifer Ivanovich Esther M. John Nicola Johnson Arja Jukkola‐Vuorinen Rudolf Kaaks Yon‐Dschun Ko Laurence N. Kolonel Irene Konstantopoulou Veli-Matti Kosma Swati Kulkarni Diether Lambrechts Adam M. Lee Loı̈c Le Marchand Timothy G. Lesnick Jianjun Liu Sara Lindström Graham J. Mann Sara Margolin Nicholas G. Martin Penelope Miron Grant W. Montgomery Heli Nevanlinna Stephan Nickels Sarah J. Nyante Curtis Olswold Julie R. Palmer Harsh B. Pathak Dimitrios Pectasides Charles M. Perou Julian Peto Paul D.P. Pharoah Loreall Pooler Michael F. Press Katri Pylkäs Timothy R. Rebbeck Jorge L. Rodriguez‐Gil Lynn Rosenberg Eric A. Ross Thomas Rüdiger Isabel dos‐Santos‐Silva

10.1038/ng.985 article EN Nature Genetics 2011-10-30

Genome-wide association studies have identified several common genetic variants associated with breast cancer risk. It is likely, however, that a substantial proportion of such loci not yet been discovered. We compared 296 114 tagging single-nucleotide polymorphisms in 1694 case subjects (92% two primary cancers or at least affected first-degree relatives) and 2365 control subjects, validation three independent series totaling 11 880 12 487 subjects. Odds ratios (ORs) 95% confidence...

10.1093/jnci/djq563 article EN JNCI Journal of the National Cancer Institute 2011-01-24
Lang Wu Wei Shi Jirong Long Xingyi Guo Kyriaki Michailidou and 95 more Jonathan Beesley Manjeet K. Bolla Xiao‐Ou Shu Yingchang Lu Qiuyin Cai Fares Al‐Ejeh Esdy Rozali Qin Wang Joe Dennis Bingshan Li Chenjie Zeng Helian Feng Alexander Gusev Richard Barfield Irene L. Andrulis Hoda Anton‐Culver Volker Arndt Kristan J. Aronson Paul L. Auer Myrto Barrdahl Caroline Baynes Matthias W. Beckmann Javier Benı́tez Marina Bermisheva Carl Blomqvist Natalia Bogdanova Stig E. Bojesen Hiltrud Brauch Hermann Brenner Louise A. Brinton Per Broberg Sara Y. Brucker Barbara Burwinkel Trinidad Caldés Federico Canzian Brian D. Carter Jose E. Castelao Jenny Chang‐Claude Xiaohong Chen Ting‐Yuan David Cheng Hans Christiansen Christine L. Clarke Margriet Collée Sten Cornelissen Fergus J. Couch David G. Cox Angela Cox Simon S. Cross Julie M. Cunningham Kamila Czene Mary B. Daly Peter Devilee Kimberly F. Doheny Thilo Dörk Isabel dos‐Santos‐Silva Martine Dumont Miriam Dwek Diana Eccles Ursula Eilber A. Heather Eliassen Christoph Engel Mikael Eriksson Laura Fachal Peter A. Fasching Jonine D. Figueroa Dieter Flesch‐Janys Olivia Fletcher Henrik Flyger Lin Fritschi Marike Gabrielson Manuela Gago‐Dominguez Susan M. Gapstur Montserrat García‐Closas Mia M. Gaudet Maya Ghoussaini Graham G. Giles Mark S. Goldberg David E. Goldgar Anna González‐Neira Pascal Guénel Eric Hahnen Christopher A. Haiman Niclas Håkansson Per Hall Emily Hallberg Ute Hamann Patricia Harrington Alexander Hein Belynda Hicks Peter Hillemanns Antoinette Hollestelle Robert N. Hoover John L. Hopper Guanmengqian Huang Keith Humphreys

10.1038/s41588-018-0132-x article EN Nature Genetics 2018-06-18
Juliet D. French Maya Ghoussaini Stacey L. Edwards Kerstin B. Meyer Kyriaki Michailidou and 95 more Shahana Ahmed Sofia Khan Mel Maranian Martin O’Reilly Kristine M. Hillman Joshua A. Betts Thomas Carroll Peter J. Bailey Ed Dicks Jonathan Beesley Jonathan P. Tyrer Ana-Teresa Maia Andrew Beck Nicholas Knoblauch Constance Chen Peter Kraft Daniel R. Barnes Anna González‐Neira M. Rosario Alonso Daniel Herrero Daniel C. Tessier Daniel Vincent François Bacot Craig Luccarini Caroline Baynes Don Conroy Joe Dennis Manjeet K. Bolla Qin Wang John L. Hopper Melissa C. Southey Marjanka K. Schmidt Annegien Broeks Senno Verhoef Sten Cornelissen Kenneth Muir Artitaya Lophatananon Sarah Stewart‐Brown Pornthep Siriwanarangsan Peter A. Fasching Christian R. Loehberg Arif B. Ekici Matthias W. Beckmann Julian Peto Isabel dos‐Santos‐Silva Nichola Johnson Zoe Aitken Elinor J. Sawyer Ian Tomlinson Michael J. Kerin Nicola Miller Frederik Marmé Andreas Schneeweiß Christof Sohn Barbara Burwinkel Pascal Guénel Thérèse Truong Pierre Laurent–Puig F. Ménégaux Stig E. Bojesen Børge G. Nordestgaard Sune F. Nielsen Henrik Flyger Roger L. Milne M. Pilar Zamora José Ignacio Arias Pérez Javier Benı́tez Hoda Anton‐Culver Hermann Brenner Heiko Müller Volker Arndt Christa Stegmaier Alfons Meindl Peter Lichtner Rita K. Schmutzler Christoph Engel Hiltrud Brauch Ute Hamann Christina Justenhoven Kirsimari Aaltonen Päivi Heikkilä Kristiina Aittomäki Carl Blomqvist Keitaro Matsuo Hidemi Ito Hiroji Iwata Aiko Sueta Natalia Bogdanova Natalia Antonenkova Thilo Dörk Annika Lindblom Sara Margolin Graham J. Mann Vesa Kataja Veli-Matti Kosma

10.1016/j.ajhg.2013.01.002 article EN publisher-specific-oa The American Journal of Human Genetics 2013-03-27
Melissa C. Southey David E. Goldgar Robert Winqvist Katri Pylkäs Fergus J. Couch and 95 more Marc Tischkowitz William D. Foulkes Joe Dennis Kyriaki Michailidou Elizabeth J. van Rensburg Tuomas Heikkinen Heli Nevanlinna John L. Hopper Thilo Dörk Kathleen Claes Jorge S. Reis‐Filho Zhi L. Teo Paolo Radice Irene Catucci Paolo Peterlongo Helen Tsimiklis Fabrice Odefrey James G. Dowty Marjanka K. Schmidt Annegien Broeks Frans B.L. Hogervorst Senno Verhoef Jane Carpenter Christine L. 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 F. Marmé Barbara Burwinkel Rongxi Yang Pascal Guénel Thérèse Truong F. Ménégaux Marie-Pierre Sanchez Stig E. Bojesen Sune F. Nielsen Henrik Flyger Javier Benı́tez M. Pilar Zamora José Ignacio Arias Pérez Primitiva Menéndez Hoda Anton‐Culver Susan L. Neuhausen Argyrios Ziogas Christina A. Clarke Hermann Brenner Volker Arndt Christa Stegmaier Hiltrud Brauch Thomas Brüning Yon‐Dschun Ko Taru Muranen Kristiina Aittomäki Carl Blomqvist Natalia Bogdanova Natalia Antonenkova Annika Lindblom Sara Margolin Graham J. Mann 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 M. Vachon V. Shane Pankratz Catriona McLean Christopher A. Haiman Brian E. Henderson Fredrick R. Schumacher Loı̈c Le Marchand Vessela Kristensen Grethe Grenaker Alnæs Wei Zheng David J. Hunter

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 these are with breast risk as high those rare BRCA2 mutations. We aimed the relative risks specific variants via a multicentre case-control study.

10.1136/jmedgenet-2016-103839 article EN cc-by Journal of Medical Genetics 2016-09-05
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