I
Isabel dos Santos Silva
Researcher at University of London
Publications - 138
Citations - 15251
Isabel dos Santos Silva is an academic researcher from University of London. The author has contributed to research in topics: Breast cancer & Cancer. The author has an hindex of 56, co-authored 135 publications receiving 13861 citations. Previous affiliations of Isabel dos Santos Silva include University of Porto & The Breast Cancer Research Foundation.
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Journal ArticleDOI
Breast Density and Parenchymal Patterns as Markers of Breast Cancer Risk: A Meta-analysis
TL;DR: This review explains some of the heterogeneity in associations of breast density with breast cancer risk and shows that, in well-conducted studies, this is one of the strongest risk factors for breast cancer.
Journal ArticleDOI
Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores
Bjarni J. Vilhjálmsson,Jian Yang,Hilary K. Finucane,Alexander Gusev,Sara Lindström,Stephan Ripke,Giulio Genovese,Po-Ru Loh,Gaurav Bhatia,Ron Do,Tristan J. Hayeck,Hong-Hee Won,Benjamin M. Neale,Aiden Corvin,James T.R. Walters,Kai How Farh,Peter Holmans,Phil Lee,Brendan Bulik-Sullivan,David A. Collier,Hailiang Huang,Tune H. Pers,Ingrid Agartz,E. Agerbo,Margot Albus,Madeline Alexander,Farooq Amin,Silviu Alin Bacanu,Martin Begemann,Richard A. Belliveau,Judit Bene,Sarah E. Bergen,Elizabeth Bevilacqua,Tim B. Bigdeli,Donald W. Black,Richard Bruggeman,Nancy G. Buccola,Randy L. Buckner,William Byerley,Wiepke Cahn,Guiqing Cai,Dominique Campion,Rita M. Cantor,Vaughan J. Carr,Noa Carrera,Stanley V. Catts,Kimberly Chambert,Raymond C.K. Chan,Ronald Y.L. Chen,Eric Y.H. Chen,Wei Cheng,Eric F. C. Cheung,Siow Ann Chong,C. Robert Cloninger,David Cohen,Nadine Cohen,Paul Cormican,Nicholas John Craddock,James J. Crowley,David Curtis,Michael Davidson,Kenneth L. Davis,Franziska Degenhardt,Jurgen Del Favero,Lynn E. DeLisi,Ditte Demontis,Dimitris Dikeos,Timothy G. Dinan,Srdjan Djurovic,Gary Donohoe,Elodie Drapeau,Jubao Duan,Frank Dudbridge,Naser Durmishi,Peter Eichhammer,Johan G. Eriksson,Valentina Escott-Price,Laurent Essioux,Ayman H. Fanous,Martilias S. Farrell,Josef Frank,Lude Franke,Robert Freedman,Nelson B. Freimer,Marion Friedl,Joseph I. Friedman,Menachem Fromer,Lyudmila Georgieva,Elliot S. Gershon,Ina Giegling,Paola Giusti-Rodrguez,Stephanie Godard,Jacqueline I. Goldstein,Vera Golimbet,Srihari Gopal,Jacob Gratten,Jakob Grove,Lieuwe de Haan,Christian Hammer,Marian L. Hamshere,Mark Hansen,Thomas Hansen,Vahram Haroutunian,Annette M. Hartmann,Frans Henskens,Stefan Herms,Joel N. Hirschhorn,Per Hoffmann,A. Hofman,Mads V. Hollegaard,David M. Hougaard,Masashi Ikeda,Inge Joa,Antonio Julià,René S. Kahn,Luba Kalaydjieva,Sena Karachanak-Yankova,Juha Karjalainen,David J. Kavanagh,Matthew C. Keller,Brian Kelly,James L. Kennedy,Andrey Khrunin,Yunjung Kim,Janis Klovins,James A. Knowles,Bettina Konte,Vaidutis Kučinskas,Zita Ausrele Kucinskiene,Hana Kuzelova-Ptackova,Anna K. Kähler,Claudine Laurent,Jimmy Lee Chee Keong,S. Hong Lee,Sophie E. Legge,Bernard Lerer,Miaoxin Li,Tao Li,Kung Yee Liang,Jeffrey A. Lieberman,Svetlana A. Limborska,Carmel M. Loughland,Jan Lubinski,Jouko K. Lnnqvist,Milan Macek,Patrik K. E. Magnusson,Brion S. Maher,Wolfgang Maier,Jacques Mallet,Sara Marsal,Manuel Mattheisen,Morten Mattingsdal,Robert W. McCarley,Colm McDonald,Andrew M. McIntosh,Sandra Meier,Carin J. Meijer,Béla Melegh,Ingrid Melle,Raquelle I. Mesholam-Gately,Andres Metspalu,Patricia T. Michie,Lili Milani,Vihra Milanova,Younes Mokrab,Derek W. Morris,Ole Mors,Preben Bo Mortensen,Kieran C. Murphy,Robin M. Murray,Inez Myin-Germeys,Bertram Mller-Myhsok,Mari Nelis,Igor Nenadic,Deborah A. Nertney,Gerald Nestadt,Kristin K. Nicodemus,Liene Nikitina-Zake,Laura Nisenbaum,Annelie Nordin,Eadbhard O'Callaghan,Colm O'Dushlaine,F. Anthony O'Neill,Sang Yun Oh,Ann Olincy,Line Olsen,Jim van Os,Christos Pantelis,George N. Papadimitriou,Sergi Papiol,Elena Parkhomenko,Michele T. Pato,Tiina Paunio,Milica Pejovic-Milovancevic,Diana O. Perkins,Olli Pietilinen,Jonathan Pimm,Andrew Pocklington,John Powell,Alkes Price,Ann E. Pulver,Shaun Purcell,Digby Quested,Henrik B. Rasmussen,Abraham Reichenberg,Mark Reimers,Alexander Richards,Joshua L. Roffman,Panos Roussos,Douglas M. Ruderfer,Veikko Salomaa,Alan R. Sanders,Ulrich Schall,Christian Schubert,Thomas G. Schulze,Sibylle G. Schwab,Edward M. Scolnick,Rodney J. Scott,Larry J. Seidman,Jianxin Shi,Engilbert Sigurdsson,Teimuraz Silagadze,Jeremy M. Silverman,Kang Sim,Petr Slominsky,Jordan W. Smoller,Hon-Cheong So,Chris C. A. Spencer,Eli A. Stahl,Hreinn Stefansson,Stacy Steinberg,Elisabeth Stögmann,Richard E. Straub,Eric Strengman,Jana Strohmaier,T. Scott Stroup,Mythily Subramaniam,Jaana Suvisaari,Dragan M. Svrakic,Jin P. Szatkiewicz,Erik Sderman,Srinivas Thirumalai,Draga Toncheva,Paul A. Tooney,Sarah Tosato,Juha Veijola,John L. Waddington,Dermot Walsh,Dai Wang,Qiang Wang,Bradley T. Webb,Mark Weiser,Dieter B. Wildenauer,Nigel Williams,Stephanie Williams,Stephanie H. Witt,Aaron R. Wolen,Emily H. M. Wong,Brandon Wormley,Jing Qin Wu,Hualin Simon Xi,Clement C. Zai,Xuebin Zheng,Fritz Zimprich,Naomi R. Wray,Kari Stefansson,Peter M. Visscher,Rolf Adolfsson,Ole A. Andreassen,Douglas Blackwood,Elvira Bramon,Joseph D. Buxbaum,Anders D. Børglum,Sven Cichon,Ariel Darvasi,Enrico Domenici,Hannelore Ehrenreich,Tõnu Esko,Pablo V. Gejman,Michael Gill,Hugh Gurling,Christina M. Hultman,Nakao Iwata,Assen Jablensky,Erik G. Jönsson,Kenneth S. Kendler,George Kirov,Jo Knight,Todd Lencz,Douglas F. Levinson,Qingqin S. Li,Jianjun Liu,Anil K. Malhotra,Steven A. McCarroll,Andrew McQuillin,Jennifer L. Moran,Bryan J. Mowry,Markus M. Nthen,Roel A. Ophoff,Michael John Owen,A. Palotie,Carlos N. Pato,Tracey L. Petryshen,Danielle Posthuma,Marcella Rietschel,Brien P. Riley,Dan Rujescu,Pak C. Sham,Pamela Sklar,David St Clair,Daniel R. Weinberger,Jens R. Wendland,Thomas Werge,Mark J. Daly,Patrick F. Sullivan,Michael Conlon O'Donovan,Peter Kraft,David J. Hunter,Muriel A. Adank,Habibul Ahsan,Kristiina Aittomäki,Laura Baglietto,Sonja I. Berndt,Carl Blomquist,Federico Canzian,Jenny Chang-Claude,Stephen J. Chanock,Laura Crisponi,Kamila Czene,Norbert Dahmen,Isabel dos Santos Silva,Douglas F. Easton,A. Heather Eliassen,Jonine D. Figueroa,Olivia Fletcher,Montserrat Garcia-Closas,Mia M. Gaudet,Lorna Gibson,Christopher A. Haiman,Per Hall,Aditi Hazra,Rebecca Hein,Brian E. Henderson,Albert Hofman,John L. Hopper,Astrid Irwanto,Mattias Johansson,Rudolf Kaaks,Muhammad G. Kibriya,Peter Lichtner,Eiliv Lund,Enes Makalic,Alfons Meindl,Hanne Meijers-Heijboer,Bertram Müller-Myhsok,Taru A. Muranen,Heli Nevanlinna,Petra H.M. Peeters,Julian Peto,Ross L. Prentice,Nazneen Rahman,María José Sánchez,Daniel F. Schmidt,Rita K. Schmutzler,Melissa C. Southey,Rulla M. Tamimi,Ruth C. Travis,Clare Turnbull,André G. Uitterlinden,Rob B. van der Luijt,Quinten Waisfisz,Zhaoming Wang,Alice S. Whittemore,Rose Yang,Wei Zheng,Wei Zheng,Sekar Kathiresan,Michele T. Pato,Carlos N. Pato,E Stahl,Noah Zaitlen,Bogdan Pasaniuc,Gillian M. Belbin,Eimear E. Kenny,Mikkel H. Schierup,Phillip L. De Jager,Nikolaos A. Patsopoulos,Steve McCarroll,Mark J. Daly,Shaun M. Purcell,Daniel I. Chasman,Benjamin M. Neale,Michael E. Goddard,Nick Patterson,Alkes L. Price +394 more
TL;DR: LDpred is introduced, a method that infers the posterior mean effect size of each marker by using a prior on effect sizes and LD information from an external reference panel, and outperforms the approach of pruning followed by thresholding, particularly at large sample sizes.
Journal ArticleDOI
Large-scale genotyping identifies 41 new loci associated with breast cancer risk
Kyriaki Michailidou,Per Hall,Anna González-Neira,Maya Ghoussaini,Joe Dennis,Roger L. Milne,Marjanka K. Schmidt,Jenny Chang-Claude,Stig E. Bojesen,Manjeet K. Bolla,Qin Wang,Ed Dicks,Andy C. H. Lee,Clare Turnbull,Nazneen Rahman,Olivia Fletcher,Julian Peto,Lorna Gibson,Isabel dos Santos Silva,Heli Nevanlinna,Taru A. Muranen,Kristiina Aittomäki,Carl Blomqvist,Kamila Czene,Astrid K. Irwanto,Jianjun Liu,Quinten Waisfisz,Hanne Meijers-Heijboer,Muriel A. Adank,Rob B. van der Luijt,Rebecca Hein,N. Dahmen,Lars Beckman,Alfons Meindl,Rita K. Schmutzler,Bertram Müller-Myhsok,Peter Lichtner,John L. Hopper,Melissa C. Southey,Enes Makalic,Daniel F. Schmidt,Andre G. Uitterlinden,Albert Hofman,David J. Hunter,Stephen J. Chanock,Daniel Vincent,Francois Bacot,Daniel C. Tessier,Sander Canisius,Lodewyk F. A. Wessels,Christopher A. Haiman,Mitul Shah,Robert Luben,Judith E. 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,Dieter Flesch-Janys,Dieter Flesch-Janys,Nichola Johnson,Zoe Aitken,Kirsimari Aaltonen,Kirsimari Aaltonen,Tuomas Heikkinen,Annegien Broeks,Laura J. Van 'T Veer,C. Ellen van der Schoot,Pascal Guénel,Thérèse Truong,Pierre Laurent-Puig,Florence Menegaux,Frederik Marmé,Andreas Schneeweiss,Christof Sohn,Barbara Burwinkel,M. Pilar Zamora,Jose Ignacio Arias Perez,Guillermo Pita,M. Rosario Alonso,Angela Cox,Ian W. Brock,Simon S. Cross,Malcolm W.R. Reed,Elinor J. Sawyer,Ian Tomlinson,Michael J. Kerin,Nicola Miller,Brian E. Henderson,Fredrick R. Schumacher,Loic Le Marchand,Irene L. Andrulis,Julia A. Knight,Gord Glendon,Anna Marie Mulligan,Annika Lindblom,Sara Margolin,Maartje J. Hooning,Antoinette Hollestelle,Ans M.W. van den Ouweland,Agnes Jager,Quang M. Bui,Jennifer Stone,Gillian S. Dite,Carmel Apicella,Helen Tsimiklis,Graham G. Giles,Gianluca Severi,Laura Baglietto,Peter A. Fasching,Lothar Haeberle,Arif B. Ekici,Matthias W. Beckmann,Hermann Brenner,Heiko Müller,Volker Arndt,Christa Stegmaier,Anthony J. Swerdlow,Alan Ashworth,Nick Orr,Michael Jones,Jonine D. Figueroa,Jolanta Lissowska,Louise A. Brinton,Mark S. Goldberg,Martine Dumont,Robert Winqvist,Katri Pylkäs,Arja Jukkola-Vuorinen,Mervi Grip,Hiltrud Brauch,Ute Hamann,Thomas Brüning,Paolo Radice,Paolo Peterlongo,Siranoush Manoukian,Bernardo Bonanni,Peter Devilee,Rob A. E. M. Tollenaar,Caroline M. Seynaeve,Christi J. van Asperen,Anna Jakubowska,Jan Lubinski,Katarzyna Jaworska,Katarzyna Durda,Arto Mannermaa,Vesa Kataja,Veli-Matti Kosma,Jaana M. Hartikainen,Natalia Bogdanova,Natalia Antonenkova,Thilo Dörk,Vessela N. Kristensen,Hoda Anton-Culver,Susan L. Slager,Amanda E. Toland,Stephen Edge,Florentia Fostira,Daehee Kang,Keun-Young Yoo,Dong Young Noh,Keitaro Matsuo,Hidemi Ito,Hiroji Iwata,Aiko Sueta,Anna H. Wu,Chiu-Chen Tseng,David Van Den Berg,Daniel O. Stram,Xiao-Ou Shu,Wei Lu,Yu Tang Gao,Hui Cai,Soo Hwang Teo,Cheng Har Yip,Sze Yee Phuah,Belinda K. Cornes,Mikael Hartman,Hui Miao,Wei-Yen Lim,J. H. Sng,Kenneth Muir,Artitaya Lophatananon,Sarah Stewart-Brown,Pornthep Siriwanarangsan,Chen-Yang Shen,Chia-Ni Hsiung,Pei Ei Wu,Shian Ling Ding,Suleeporn Sangrajrang,Valerie Gaborieau,Paul Brennan,James McKay,William Blot,Lisa B. Signorello,Qiuyin Cai,Wei Zheng,Sandra Deming-Halverson,Martha J. Shrubsole,Jirong Long,Jacques Simard,M Garcia-Closas,Paul D.P. Pharoah,Georgia Chenevix-Trench,Alison M. Dunning,Javier Benitez,Douglas F. Easton +220 more
TL;DR: A meta-analysis of 9 genome-wide association studies, including 10,052 breast cancer cases and 12,575 controls of European ancestry, and identified 29,807 SNPs for further genotyping suggests that more than 1,000 additional loci are involved in breast cancer susceptibility.
Journal ArticleDOI
MicroRNA related polymorphisms and breast cancer risk
Sofia Khan,Dario Greco,Dario Greco,Kyriaki Michailidou,Roger L. Milne,Roger L. Milne,Taru A. Muranen,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 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 W.R. Reed,Marjanka K. Schmidt,Annegien Broeks,Laura Van't Veer,Frans B. L. Hogervorst,Peter A. Fasching,Michael G. Schrauder,Arif B. Ekici,Matthias W. Beckmann,Stig E. Bojesen,Børge G. Nordestgaard,Sune F. Nielsen,Henrik Flyger,Javier Benitez,Pilar Zamora,Jose Ignacio Arias Perez,Christopher A. Haiman,Brian E. Henderson,Fredrick R. Schumacher,Loic Le Marchand,Paul D.P. Pharoah,Alison M. Dunning,Mitul Shah,Robert Luben,Judith E. 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,Hoda Anton-Culver,Hatef Darabi,Mikael Eriksson,Montserrat Garcia-Closas,Jonine D. Figueroa,Jolanta Lissowska,Louise A. Brinton,Peter Devilee,Robert A.E.M. Tollenaar,Caroline Seynaeve,Christi J. van Asperen,Vessela N. Kristensen,Susan L. Slager,Amanda E. Toland,Christine B. Ambrosone,Drakoulis Yannoukakos,Annika Lindblom,Sara Margolin,Paolo Radice,Paolo Peterlongo,Monica Barile,Paolo Mariani,Maartje J. Hooning,John W.M. Martens,J. Margriet Collée,Agnes Jager,Anna Jakubowska,Jan Lubinski,Katarzyna Jaworska-Bieniek,Katarzyna Durda,Graham G. Giles,Catriona McLean,Hiltrud Brauch,Thomas Brüning,Yon-Dschun Ko,Hermann Brenner,Aida Karina Dieffenbach,Volker Arndt,Christa Stegmaier,Anthony J. Swerdlow,Alan Ashworth,Nick Orr,Michael Jones,Jacques Simard,Mark S. Goldberg,Martine Dumont,Robert Winqvist,Katri Pylkäs,Arja Jukkola-Vuorinen,Mervi Grip,Vesa Kataja,Veli-Matti Kosma,Jaana M. Hartikainen,Arto Mannermaa,Ute Hamann,Georgia Chenevix-Trench,Carl Blomqvist,Kristiina Aittomäki,Douglas F. Easton,Heli Nevanlinna +161 more
TL;DR: Five miRNA binding site SNPs associated significantly with breast cancer risk are located in the 3′ UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively, which belongs to miRNA machinery genes and has a central role in initial miRNA processing.
Journal ArticleDOI
A common coding variant in CASP8 is associated with breast cancer risk
Angela Cox,Alison M. Dunning,Montserrat Garcia-Closas,Sabapathy P. Balasubramanian,Malcolm W.R. Reed,Karen A. Pooley,Serena Scollen,Caroline Baynes,Bruce A.J. Ponder,Stephen J. Chanock,Jolanta Lissowska,Louise A. Brinton,Beata Peplonska,Melissa C. Southey,John L. Hopper,Margaret R. E. McCredie,Graham G. Giles,Olivia Fletcher,Nichola Johnson,Isabel dos Santos Silva,Lorna Gibson,Stig E. Bojesen,Børge G. Nordestgaard,C K Axelsson,Diana Torres,Ute Hamann,Christina Justenhoven,Christina Justenhoven,Hiltrud Brauch,Hiltrud Brauch,Jenny Chang-Claude,Silke Kropp,Angela Risch,Shan Wang-Gohrke,Peter Schürmann,Natalia Bogdanova,Thilo Dörk,Rainer Fagerholm,Kirsimari Aaltonen,Carl Blomqvist,Heli Nevanlinna,Sheila Seal,Anthony Renwick,Michael R. Stratton,Nazneen Rahman,Suleeporn Sangrajrang,David J. Hughes,Fabrice Odefrey,Paul Brennan,Amanda B. Spurdle,Georgia Chenevix-Trench,Jonathan Beesley,Arto Mannermaa,Jaana M. Hartikainen,Vesa Kataja,Veli-Matti Kosma,Fergus J. Couch,Janet E. Olson,Ellen L. Goode,Annegien Broeks,Marjanka K. Schmidt,Frans B. L. Hogervorst,Laura J. van't Veer,Daehee Kang,Keun-Young Yoo,Dong Young Noh,Sei Hyun Ahn,Sara Wedrén,Per Hall,Yen-Ling Low,Jianjun Liu,Roger L. Milne,Gloria Ribas,Anna González-Neira,Javier Benitez,Alice J. Sigurdson,Alice J. Sigurdson,Denise L. Stredrick,Denise L. Stredrick,Bruce H. Alexander,Bruce H. Alexander,Jeffery P. Struewing,Jeffery P. Struewing,Paul D.P. Pharoah,Douglas F. Easton +84 more
TL;DR: It is demonstrated that common breast cancer susceptibility alleles with small effects on risk can be identified, given sufficiently powerful studies, as well as the need for further studies to confirm putative genetic associations with breast cancer.