K
Karen A. Pooley
Researcher at University of Cambridge
Publications - 66
Citations - 10338
Karen A. Pooley is an academic researcher from University of Cambridge. The author has contributed to research in topics: Breast cancer & Cancer. The author has an hindex of 41, co-authored 65 publications receiving 9116 citations. Previous affiliations of Karen A. Pooley include Wellcome Trust Sanger Institute & Cancer Research UK.
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Journal ArticleDOI
Genome-wide association study identifies novel breast cancer susceptibility loci
Douglas F. Easton,Karen A. Pooley,Alison M. Dunning,Paul D.P. Pharoah,Deborah J. Thompson,Dennis G. Ballinger,Jeffery P. Struewing,Jonathan J. Morrison,Helen I. Field,Robert Luben,Nicholas J. Wareham,Shahana Ahmed,Catherine S. Healey,Richard Bowman,Kerstin B. Meyer,Christopher A. Haiman,Laurence K. Kolonel,Brian E. Henderson,Loic Le Marchand,Paul Brennan,Suleeporn Sangrajrang,Valerie Gaborieau,Fabrice Odefrey,Chen-Yang Shen,Pei-Ei Wu,Hui-Chun Wang,Diana Eccles,D. Gareth Evans,Julian Peto,Olivia Fletcher,Nichola Johnson,Sheila Seal,Michael R. Stratton,Nazneen Rahman,Georgia Chenevix-Trench,Georgia Chenevix-Trench,Stig E. Bojesen,Børge G. Nordestgaard,C K Axelsson,Montserrat Garcia-Closas,Louise A. Brinton,Stephen J. Chanock,Jolanta Lissowska,Beata Peplonska,Heli Nevanlinna,Rainer Fagerholm,H Eerola,Daehee Kang,Keun-Young Yoo,Dong-Young Noh,Sei Hyun Ahn,David J. Hunter,Susan E. Hankinson,David G. Cox,Per Hall,Sara Wedrén,Jianjun Liu,Yen-Ling Low,Natalia Bogdanova,Peter Schu¨rmann,Do¨rk Do¨rk,Rob A. E. M. Tollenaar,Catharina E. Jacobi,Peter Devilee,Jan G. M. Klijn,Alice J. Sigurdson,Michele M. Doody,Bruce H. Alexander,Jinghui Zhang,Angela Cox,Ian W. Brock,Gordon MacPherson,Malcolm W.R. Reed,Fergus J. Couch,Ellen L. Goode,Janet E. Olson,Hanne Meijers-Heijboer,Hanne Meijers-Heijboer,Ans M.W. van den Ouweland,André G. Uitterlinden,Fernando Rivadeneira,Roger L. Milne,Gloria Ribas,Anna González-Neira,Javier Benitez,John L. Hopper,Margaret R. E. McCredie,Margaret R. E. McCredie,Margaret R. E. McCredie,Melissa C. Southey,Melissa C. Southey,Graham G. Giles,Chris Schroen,Christina Justenhoven,Christina Justenhoven,Hiltrud Brauch,Hiltrud Brauch,Ute Hamann,Yon-Dschun Ko,Amanda B. Spurdle,Jonathan Beesley,Xiaoqing Chen,_ kConFab,Arto Mannermaa,Veli-Matti Kosma,Vesa Kataja,Jaana M. Hartikainen,Nicholas E. Day,David Cox,Bruce A.J. Ponder +109 more
TL;DR: To identify further susceptibility alleles, a two-stage genome-wide association study in 4,398 breast cancer cases and 4,316 controls was conducted, followed by a third stage in which 30 single nucleotide polymorphisms were tested for confirmation.
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.
Journal ArticleDOI
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer
Stig E. Bojesen,Stig E. Bojesen,Karen A. Pooley,Sharon E. Johnatty,Jonathan Beesley,Kyriaki Michailidou,Jonathan Tyrer,Stacey L. Edwards,Hilda A. Pickett,Hilda A. Pickett,Howard C. Shen,Chanel E. Smart,Kristine M. Hillman,Phuong L. Mai,Kate Lawrenson,Michael D. Stutz,Michael D. Stutz,Yi Lu,Rod Karevan,Nicholas T. Woods,Rebecca L. Johnston,Juliet D. French,Xiaoqing Chen,Maren Weischer,Sune F. Nielsen,Melanie Maranian,Maya Ghoussaini,Shahana Ahmed,Caroline Baynes,Manjeet K. Bolla,Qin Wang,Joe Dennis,Lesley McGuffog,Daniel Barrowdale,Andrew Lee,Sue Healey,Michael Lush,Daniel C. Tessier,Daniel Vincent,Françis Bacot,Ignace Vergote,Sandrina Lambrechts,Evelyn Despierre,Harvey A. Risch,Anna González-Neira,Mary Anne Rossing,Mary Anne Rossing,Guillermo Pita,Jennifer A. Doherty,Nuria Álvarez,Melissa C. Larson,Brooke L. Fridley,Nils Schoof,Jenny Chang-Claude,Mine S. Cicek,Julian Peto,Kimberly R. Kalli,Annegien Broeks,Sebastian M. Armasu,Marjanka K. Schmidt,Linde M. Braaf,Boris Winterhoff,Heli Nevanlinna,Gottfried E. Konecny,Diether Lambrechts,L. Rogmann,Pascal Guénel,Attila Teoman,Roger L. Milne,Joaquin J. Garcia,Angela Cox,Vijayalakshmi Shridhar,Barbara Burwinkel,Frederik Marmé,Rebecca Hein,Rebecca Hein,Elinor J. Sawyer,Christopher A. Haiman,Shan Wang-Gohrke,Irene L. Andrulis,Kirsten B. Moysich,John L. Hopper,Kunle Odunsi,Annika Lindblom,Graham G. Giles,Graham G. Giles,Graham G. Giles,Hermann Brenner,Jacques Simard,Galina Lurie,Peter A. Fasching,Peter A. Fasching,Michael E. Carney,Paolo Radice,Lynne R. Wilkens,Anthony J. Swerdlow,Marc T. Goodman,Hiltrud Brauch,Hiltrud Brauch,Montserrat Garcia-Closas,Peter Hillemanns,Robert Winqvist,Matthias Dürst,Peter Devilee,Ingo B. Runnebaum,Anna Jakubowska,Jan Lubinski,Arto Mannermaa,Ralf Bützow,Natalia Bogdanova,Thilo Dörk,Liisa M. Pelttari,Wei Zheng,Arto Leminen,Hoda Anton-Culver,Clareann H. Bunker,Vessela N. Kristensen,Roberta B. Ness,Kenneth Muir,Kenneth Muir,Robert Edwards,Alfons Meindl,Florian Heitz,Keitaro Matsuo,Andreas du Bois,Anna H. Wu,Philipp Harter,Soo Hwang Teo,Ira Schwaab,Xiao-Ou Shu,William Blot,Satoyo Hosono,Daehee Kang,Toru Nakanishi,Mikael Hartman,Mikael Hartman,Yasushi Yatabe,Ute Hamann,Beth Y. Karlan,Suleeporn Sangrajrang,Susanne K. Kjaer,Valerie Gaborieau,Allan Jensen,Diana Eccles,Estrid Høgdall,Chen-Yang Shen,Chen-Yang Shen,Judith E. Brown,Yin Ling Woo,Mitul Shah,Mat Adenan Noor Azmi,Robert Luben,Siti Zawiah Omar,Kamila Czene,Robert A. Vierkant,Børge G. Nordestgaard,Henrik Flyger,Celine M. Vachon,Janet E. Olson,Xianshu Wang,Douglas A. Levine,Anja Rudolph,Rachel Palmieri Weber,Dieter Flesch-Janys,Edwin S. Iversen,Stefan Nickels,Joellen M. Schildkraut,Isabel dos Santos Silva,Daniel W. Cramer,Lorna Gibson,Kathryn L. Terry,Olivia Fletcher,Allison F. Vitonis,C. Ellen van der Schoot,Elizabeth M. Poole,Frans B. L. Hogervorst,Shelley S. Tworoger,Jianjun Liu,Elisa V. Bandera,Jingmei Li,Sara H. Olson,Keith Humphreys,Irene Orlow,Carl Blomqvist,Lorna Rodriguez-Rodriguez,Kristiina Aittomäki,Helga B. Salvesen,Taru A. Muranen,Elisabeth Wik,Barbara Brouwers,Camilla Krakstad,Els Wauters,Mari K. Halle,Hans Wildiers,Lambertus A. Kiemeney,Claire Mulot,Katja K.H. Aben,Pierre Laurent-Puig,Anne M. van Altena,Thérèse Truong,Leon F.A.G. Massuger,Javier Benitez,Tanja Pejovic,Jose Ignacio Arias Perez,Maureen E. Hoatlin,M. Pilar Zamora,Linda S. Cook,Sabapathy P. Balasubramanian,Linda E. Kelemen,Andreas Schneeweiss,Nhu D. Le,Christof Sohn,Angela Brooks-Wilson,Angela Brooks-Wilson,Ian Tomlinson,Michael J. Kerin,Nicola Miller,Cezary Cybulski,Brian E. Henderson,Janusz Menkiszak,Fredrick R. Schumacher,Nicolas Wentzensen,Loic Le Marchand,Hannah P. Yang,Anna Marie Mulligan,Gord Glendon,Svend Aage Engelholm,Julia A. Knight,Claus Høgdall,Carmel Apicella,Martin Gore,Helen Tsimiklis,Honglin Song,Melissa C. Southey,Agnes Jager,Ans M Wvan Den Ouweland,Robert S. Brown,John W.M. Martens,James M. Flanagan,Mieke Kriege,James Paul,Sara Margolin,Nadeem Siddiqui,Gianluca Severi,Gianluca Severi,Alice S. Whittemore,Laura Baglietto,Laura Baglietto,Valerie McGuire,Christa Stegmaier,Weiva Sieh,Heiko Müller,Volker Arndt,Yu Tang Gao,Mark S. Goldberg,Gong Yang,Martine Dumont,John R. McLaughlin,Arndt Hartmann,Arif B. Ekici,Matthias W. Beckmann,Catherine M. Phelan,Michael P. Lux,Jenny Permuth-Wey,Bernard Peissel,Thomas A. Sellers,Filomena Ficarazzi,Monica Barile,Argyrios Ziogas,Alan Ashworth,Aleksandra Gentry-Maharaj,Michael Jones,Susan J. Ramus,Nick Orr,Usha Menon,Celeste Leigh Pearce,Thomas Brüning,Malcolm C. Pike,Malcolm C. Pike,Yon Ko,Jolanta Lissowska,Jonine D. Figueroa,Jolanta Kupryjanczyk,Stephen J. Chanock,Agnieszka Dansonka-Mieszkowska,Arja Jukkola-Vuorinen,Iwona K. Rzepecka,Katri Pylkäs,Mariusz Bidziński,Saila Kauppila,Antoinette Hollestelle,Caroline Seynaeve,Rob A. E. M. Tollenaar,Katarzyna Durda,Katarzyna Jaworska,Katarzyna Jaworska,Jaana M. Hartikainen,Veli-Matti Kosma,Vesa Kataja,Natalia Antonenkova,Jirong Long,Martha J. Shrubsole,Sandra Deming-Halverson,Artitaya Lophatananon,Artitaya Lophatananon,Pornthep Siriwanarangsan,Sarah Stewart-Brown,Nina Ditsch,Peter Lichtner,Rita K. Schmutzler,Hidemi Ito,Hiroji Iwata,Kazuo Tajima,Chiu-Chen Tseng,Daniel O. Stram,David Van Den Berg,Cheng Har Yip,M. Kamran Ikram,Yew Ching Teh,Hui Cai,Wei Lu,Lisa B. Signorello,Qiuyin Cai,Dong Young Noh,Keun-Young Yoo,Hui Miao,Philip Iau,Yik Ying Teo,James McKay,Charles L. Shapiro,Foluso O. Ademuyiwa,George Fountzilas,Chia-Ni Hsiung,Jyh Cherng Yu,Ming-Feng Hou,Catherine S. Healey,Craig Luccarini,Susan Peock,Dominique Stoppa-Lyonnet,Paolo Peterlongo,Timothy R. Rebbeck,Marion Piedmonte,Christian F. Singer,Eitan Friedman,Mads Thomassen,Kenneth Offit,Thomas Hansen,Susan L. Neuhausen,Csilla Szabo,Ignacio Blanco,Judy Garber,Steven A. Narod,Jeffrey N. Weitzel,Marco Montagna,Edith Olah,Andrew K. Godwin,Drakoulis Yannoukakos,David E. Goldgar,Trinidad Caldés,Evgeny N. Imyanitov,Laima Tihomirova,Banu Arun,Ian G. Campbell,Arjen R. Mensenkamp,Christi J. van Asperen,Kees E. P. van Roozendaal,Hanne Meijers-Heijboer,J. Margriet Collée,Jan C. Oosterwijk,Maartje J. Hooning,Matti A. Rookus,Rob B. van der Luijt,Theo A. Mvan Os,D. Gareth Evans,Debra Frost,Elena Fineberg,Julian Barwell,Lisa Walker,M. John Kennedy,Radka Platte,Rosemarie Davidson,Steve Ellis,Trevor Cole,Brigitte Bressac-de Paillerets,Bruno Buecher,Francesca Damiola,Laurence Faivre,Marc Frenay,Olga M. Sinilnikova,Olivier Caron,Sophie Giraud,Sylvie Mazoyer,Valérie Bonadona,Virginie Caux-Moncoutier,Aleksandra Tołoczko-Grabarek,Jacek Gronwald,Tomasz Byrski,Amanda B. Spurdle,Bernardo Bonanni,Daniela Zaffaroni,Giuseppe Giannini,Loris Bernard,Riccardo Dolcetti,Siranoush Manoukian,Norbert Arnold,Christoph Engel,Helmut Deissler,Kerstin Rhiem,Dieter Niederacher,Hansjoerg Plendl,Christian Sutter,Barbara Wappenschmidt,Åke Borg,Beatrice Melin,Johanna Rantala,Maria Soller,Katherine L. Nathanson,Susan M. Domchek,Gustavo C. Rodriguez,Ritu Salani,Daphne Gschwantler Kaulich,Muy Kheng Tea,Shani Shimon Paluch,Yael Laitman,Anne-Bine Skytte,Torben A Kruse,Uffe Birk Jensen,Mark E. Robson,Anne-Marie Gerdes,Bent Ejlertsen,Lenka Foretova,Sharon A. Savage,Jenny Lester,Penny Soucy,Karoline Kuchenbaecker,Curtis Olswold,Julie M. Cunningham,Susan L. Slager,Vernon S. Pankratz,Ed Dicks,Sunil R. Lakhani,Sunil R. Lakhani,Fergus J. Couch,Per Hall,Alvaro N.A. Monteiro,Simon A. Gayther,Paul D.P. Pharoah,Roger R. Reddel,Roger R. Reddel,Ellen L. Goode,Mark H. Greene,Douglas F. Easton,Andrew Berchuck,Antonis C. Antoniou,Georgia Chenevix-Trench,Alison M. Dunning +455 more
TL;DR: Using the Illumina custom genotyping array iCOGs, SNPs at the TERT locus in breast, ovarian and BRCA1 mutation carrier cancer cases and controls and leukocyte telomere measurements are analyzed to find associations cluster into three independent peaks.
Journal ArticleDOI
Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2.
Shahana Ahmed,Gilles Thomas,Maya Ghoussaini,Catherine S. Healey,Manjeet K. Humphreys,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,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,S. A. Fedorova,Elza Khusnutdinova,Daehee Kang,Keun-Young Yoo,Dong Young Noh,Sei Hyun Ahn,Peter Devilee,Christi J. van Asperen,R.A.E.M. Tollenaar,Caroline Seynaeve,Montserrat Garcia-Closas,Jolanta Lissowska,Louise A. Brinton,Beata Peplonska,Heli Nevanlinna,Tuomas Heikkinen,Kristiina Aittomäki,Carl Blomqvist,John L. Hopper,Melissa C. Southey,Letitia D. Smith,Amanda B. Spurdle,Marjanka K. Schmidt,Annegien Broeks,Richard van Hien,Sten Cornelissen,Roger L. Milne,Gloria Ribas,Anna González-Neira,Javier Benitez,Rita K. Schmutzler,Barbara Burwinkel,Barbara Burwinkel,Claus R. Bartram,Alfons Meindl,Hiltrud Brauch,Hiltrud Brauch,Christina Justenhoven,Christina Justenhoven,Ute Hamann,Jenny Chang-Claude,Rebecca Hein,Shan Wang-Gohrke,Annika Lindblom,Sara Margolin,Arto Mannermaa,Veli-Matti Kosma,Vesa Kataja,Janet E. Olson,Xianshu Wang,Zachary S. Fredericksen,Graham G. Giles,Graham G. Giles,Gianluca Severi,Gianluca Severi,Laura Baglietto,Laura Baglietto,Dallas R. English,Dallas R. English,Susan E. Hankinson,David G. Cox,Peter Kraft,Lars J. Vatten,Kristian Hveem,Merethe Kumle,Alice J. Sigurdson,Michele M. Doody,Parveen Bhatti,Bruce H. Alexander,Maartje J. Hooning,Ans M.W. van den Ouweland,Rogier A. Oldenburg,Mieke Schutte,Per Hall,Kamila Czene,Jianjun Liu,Yuqing Li,Angela Cox,Graeme Elliott,Ian W. Brock,Malcolm W.R. Reed,Chen-Yang Shen,Chen-Yang Shen,Jyh Cherng Yu,Giu Cheng Hsu,Shou Tung Chen,Hoda Anton-Culver,Argyrios Ziogas,Irene L. Andrulis,Julia A. Knight,Jonathan Beesley,Ellen L. Goode,Fergus J. Couch,Georgia Chenevix-Trench,Robert N. Hoover,Bruce A.J. Ponder,Bruce A.J. Ponder,David J. Hunter,Paul D.P. Pharoah,Alison M. Dunning,Stephen J. Chanock,Douglas F. Easton +144 more
TL;DR: Strong evidence is found for additional susceptibility loci on 3p and 17q and potential causative genes include SLC4A7 and NEK10 on3p and COX11 on 17q.
Journal ArticleDOI
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women
Leila Dorling,Sara Carvalho,Jamie Allen,Anna González-Neira,Craig Luccarini,Cecilia Wahlström,Karen A. Pooley,Michael T. Parsons,Cristina Fortuno,Qin Wang,Manjeet K. Bolla,Joe Dennis,Renske Keeman,M. Rosario Alonso,Nuria Álvarez,Belen Herraez,Victoria Fernández,Rocio Núñez-Torres,Ana Osorio,Jeanette Valcich,Minerva Li,Therese Törngren,Patricia Harrington,Caroline Baynes,Don M. Conroy,Brennan Decker,Laura Fachal,Nasim Mavaddat,Thomas U. Ahearn,Kristiina Aittomäki,Natalia Antonenkova,Norbert Arnold,Patrick Arveux,Margreet G. E. M. Ausems,Päivi Auvinen,Heiko Becher,Matthias W. Beckmann,Sabine Behrens,Marina Bermisheva,Katarzyna Białkowska,Carl Blomqvist,Natalia Bogdanova,Nadja Bogdanova-Markov,Stig E. Bojesen,Bernardo Bonanni,Anne Lise Børresen-Dale,Hiltrud Brauch,Michael Bremer,Ignacio Briceño,Thomas Brüning,Barbara Burwinkel,David Cameron,Nicola J. Camp,Archie Campbell,Angel Carracedo,Jose E. Castelao,Melissa H. Cessna,Stephen J. Chanock,Hans Christiansen,J. Margriet Collée,Emilie Cordina-Duverger,Sten Cornelissen,Kamila Czene,Thilo Dörk,Arif B. Ekici,Christoph Engel,Mikael Eriksson,Peter A. Fasching,Jonine D. Figueroa,Henrik Flyger,Asta Försti,Marike Gabrielson,Manuela Gago-Dominguez,Vassilios Georgoulias,Fabián Gil,Graham G. Giles,Gord Glendon,Encarna B. Gomez Garcia,Grethe I. Grenaker Alnæs,Pascal Guénel,Andreas Hadjisavvas,Lothar Haeberle,Eric Hahnen,Per Hall,Ute Hamann,Elaine F. Harkness,Jaana M. Hartikainen,Mikael Hartman,Wei He,Bernadette A M Heemskerk-Gerritsen,Peter Hillemanns,Frans B. L. Hogervorst,Antoinette Hollestelle,Weang Kee Ho,Maartje J. Hooning,Anthony Howell,Keith Humphreys,Faiza Idris,Anna Jakubowska,Audrey Y. Jung,Pooja Middha Kapoor,Michael J. Kerin,Elza Khusnutdinova,Sung-Won Kim,Yon-Dschun Ko,Veli-Matti Kosma,Vessela N. Kristensen,Kyriacos Kyriacou,Inge M. M. Lakeman,Jong Won Lee,Min Hyuk Lee,Jingmei Li,Annika Lindblom,Wing-Yee Lo,Maria A. Loizidou,Artitaya Lophatananon,Jan Lubinski,Robert J. MacInnis,Michael J. Madsen,Arto Mannermaa,Mehdi Manoochehri,Siranoush Manoukian,Sara Margolin,Maria Elena Martinez,Tabea Maurer,Dimitrios Mavroudis,Catriona McLean,Alfons Meindl,Arjen R. Mensenkamp,Kyriaki Michailidou,Nicola Miller,Nur Aishah Taib,Kenneth Muir,Anna Marie Mulligan,Heli Nevanlinna,William G. Newman,Børge G. Nordestgaard,Pei-Sze Ng,Jan C. Oosterwijk,Sue K. Park,Tjoung-Won Park-Simon,Jose Ignacio Arias Perez,Paolo Peterlongo,David J. Porteous,Karolina Prajzendanc,Darya Prokofyeva,Paolo Radice,Muhammad Usman Rashid,Valerie Rhenius,Matti A. Rookus,Thomas Rüdiger,Emmanouil Saloustros,Elinor J. Sawyer,Rita K. Schmutzler,Andreas Schneeweiss,Peter Schürmann,Mitul Shah,Christof Sohn,Melissa C. Southey,Harald Surowy,Maija Suvanto,Somchai Thanasitthichai,Ian Tomlinson,Diana Torres,Thérèse Truong,Maria Tzardi,Yana Valova,Christi J. van Asperen,Rob M. van Dam,Ans M.W. van den Ouweland,Lizet E. van der Kolk,Elke M van Veen,Camilla Wendt,Justin A. Williams,Xiaohong R. Yang,Sook-Yee Yoon,M. Pilar Zamora,D. Gareth Evans,Miguel de la Hoya,Jacques Simard,Antonis C. Antoniou,Åke Borg,Irene L. Andrulis,Jenny Chang-Claude,Montserrat Garcia-Closas,Georgia Chenevix-Trench,Roger L. Milne,Paul D.P. Pharoah,Marjanka K. Schmidt,Amanda B. Spurdle,Maaike P.G. Vreeswijk,Javier Benitez,Alison M. Dunning,Anders Kvist,Soo Hwang Teo,Peter Devilee,Douglas F. Easton +196 more
TL;DR: The results of this study define the genes that are most clinically useful for inclusion on panels for the prediction of breast cancer risk, as well as provide estimates of the risks associated with protein-truncating variants, to guide genetic counseling.