Ans M W van den Ouweland

Ans M W van den Ouweland

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Ans M W van den Ouweland

Ans M W van den Ouweland

Publications by authors named "Ans M W van den Ouweland"

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Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer.

Authors:
Manuel A Ferreira Eric R Gamazon Fares Al-Ejeh Kristiina Aittomäki Irene L Andrulis Hoda Anton-Culver Adalgeir Arason Volker Arndt Kristan J Aronson Banu K Arun Ella Asseryanis Jacopo Azzollini Judith Balmaña Daniel R Barnes Daniel Barrowdale Matthias W Beckmann Sabine Behrens Javier Benitez Marina Bermisheva Katarzyna Białkowska Carl Blomqvist Natalia V Bogdanova Stig E Bojesen Manjeet K Bolla Ake Borg Hiltrud Brauch Hermann Brenner Annegien Broeks Barbara Burwinkel Trinidad Caldés Maria A Caligo Daniele Campa Ian Campbell Federico Canzian Jonathan Carter Brian D Carter Jose E Castelao Jenny Chang-Claude Stephen J Chanock Hans Christiansen Wendy K Chung Kathleen B M Claes Christine L Clarke Fergus J Couch Angela Cox Simon S Cross Kamila Czene Mary B Daly Miguel de la Hoya Joe Dennis Peter Devilee Orland Diez Thilo Dörk Alison M Dunning Miriam Dwek Diana M Eccles Bent Ejlertsen Carolina Ellberg Christoph Engel Mikael Eriksson Peter A Fasching Olivia Fletcher Henrik Flyger Eitan Friedman Debra Frost Marike Gabrielson Manuela Gago-Dominguez Patricia A Ganz Susan M Gapstur Judy Garber Montserrat García-Closas José A García-Sáenz Mia M Gaudet Graham G Giles Gord Glendon Andrew K Godwin Mark S Goldberg David E Goldgar Anna González-Neira Mark H Greene Jacek Gronwald Pascal Guénel Christopher A Haiman Per Hall Ute Hamann Wei He Jane Heyworth Frans B L Hogervorst Antoinette Hollestelle Robert N Hoover John L Hopper Peter J Hulick Keith Humphreys Evgeny N Imyanitov Claudine Isaacs Milena Jakimovska Anna Jakubowska Paul A James Ramunas Janavicius Rachel C Jankowitz Esther M John Nichola Johnson Vijai Joseph Beth Y Karlan Elza Khusnutdinova Johanna I Kiiski Yon-Dschun Ko Michael E Jones Irene Konstantopoulou Vessela N Kristensen Yael Laitman Diether Lambrechts Conxi Lazaro Goska Leslie Jenny Lester Fabienne Lesueur Sara Lindström Jirong Long Jennifer T Loud Jan Lubiński Enes Makalic Arto Mannermaa Mehdi Manoochehri Sara Margolin Tabea Maurer Dimitrios Mavroudis Lesley McGuffog Alfons Meindl Usha Menon Kyriaki Michailidou Austin Miller Marco Montagna Fernando Moreno Lidia Moserle Anna Marie Mulligan Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Ines Nevelsteen Finn C Nielsen Liene Nikitina-Zake Robert L Nussbaum Kenneth Offit Edith Olah Olufunmilayo I Olopade Håkan Olsson Ana Osorio Janos Papp Tjoung-Won Park-Simon Michael T Parsons Inge Sokilde Pedersen Ana Peixoto Paolo Peterlongo Paul D P Pharoah Dijana Plaseska-Karanfilska Bruce Poppe Nadege Presneau Paolo Radice Johanna Rantala Gad Rennert Harvey A Risch Emmanouil Saloustros Kristin Sanden Elinor J Sawyer Marjanka K Schmidt Rita K Schmutzler Priyanka Sharma Xiao-Ou Shu Jacques Simard Christian F Singer Penny Soucy Melissa C Southey John J Spinelli Amanda B Spurdle Jennifer Stone Anthony J Swerdlow William J Tapper Jack A Taylor Manuel R Teixeira Mary Beth Terry Alex Teulé Mads Thomassen Kathrin Thöne Darcy L Thull Marc Tischkowitz Amanda E Toland Diana Torres Thérèse Truong Nadine Tung Celine M Vachon Christi J van Asperen Ans M W van den Ouweland Elizabeth J van Rensburg Ana Vega Alessandra Viel Qin Wang Barbara Wappenschmidt Jeffrey N Weitzel Camilla Wendt Robert Winqvist Xiaohong R Yang Drakoulis Yannoukakos Argyrios Ziogas Peter Kraft Antonis C Antoniou Wei Zheng Douglas F Easton Roger L Milne Jonathan Beesley Georgia Chenevix-Trench

Nat Commun 2019 04 15;10(1):1741. Epub 2019 Apr 15.

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia.

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http://dx.doi.org/10.1038/s41467-018-08053-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465407PMC
April 2019

Genome-wide association study of germline variants and breast cancer-specific mortality.

Authors:
Maria Escala-Garcia Qi Guo Thilo Dörk Sander Canisius Renske Keeman Joe Dennis Jonathan Beesley Julie Lecarpentier Manjeet K Bolla Qin Wang Jean Abraham Irene L Andrulis Hoda Anton-Culver Volker Arndt Paul L Auer Matthias W Beckmann Sabine Behrens Javier Benitez Marina Bermisheva Leslie Bernstein Carl Blomqvist Bram Boeckx Stig E Bojesen Bernardo Bonanni Anne-Lise Børresen-Dale Hiltrud Brauch Hermann Brenner Adam Brentnall Louise Brinton Per Broberg Ian W Brock Sara Y Brucker Barbara Burwinkel Carlos Caldas Trinidad Caldés Daniele Campa Federico Canzian Angel Carracedo Brian D Carter Jose E Castelao Jenny Chang-Claude Stephen J Chanock Georgia Chenevix-Trench Ting-Yuan David Cheng Suet-Feung Chin Christine L Clarke Emilie Cordina-Duverger Fergus J Couch David G Cox Angela Cox Simon S Cross Kamila Czene Mary B Daly Peter Devilee Janet A Dunn Alison M Dunning Lorraine Durcan Miriam Dwek Helena M Earl Arif B Ekici A Heather Eliassen Carolina Ellberg Christoph Engel Mikael Eriksson D Gareth Evans Jonine Figueroa Dieter Flesch-Janys Henrik Flyger Marike Gabrielson Manuela Gago-Dominguez Eva Galle Susan M Gapstur Montserrat García-Closas José A García-Sáenz Mia M Gaudet Angela George Vassilios Georgoulias Graham G Giles Gord Glendon David E Goldgar Anna González-Neira Grethe I Grenaker Alnæs Mervi Grip Pascal Guénel Lothar Haeberle Eric Hahnen Christopher A Haiman Niclas Håkansson Per Hall Ute Hamann Susan Hankinson Elaine F Harkness Patricia A Harrington Steven N Hart Jaana M Hartikainen Alexander Hein Peter Hillemanns Louise Hiller Bernd Holleczek Antoinette Hollestelle Maartje J Hooning Robert N Hoover John L Hopper Anthony Howell Guanmengqian Huang Keith Humphreys David J Hunter Wolfgang Janni Esther M John Michael E Jones Arja Jukkola-Vuorinen Audrey Jung Rudolf Kaaks Maria Kabisch Katarzyna Kaczmarek Michael J Kerin Sofia Khan Elza Khusnutdinova Johanna I Kiiski Cari M Kitahara Julia A Knight Yon-Dschun Ko Linetta B Koppert Veli-Matti Kosma Peter Kraft Vessela N Kristensen Ute Krüger Tabea Kühl Diether Lambrechts Loic Le Marchand Eunjung Lee Flavio Lejbkowicz Lian Li Annika Lindblom Sara Lindström Martha Linet Jolanta Lissowska Wing-Yee Lo Sibylle Loibl Jan Lubiński Michael P Lux Robert J MacInnis Melanie Maierthaler Tom Maishman Enes Makalic Arto Mannermaa Mehdi Manoochehri Siranoush Manoukian Sara Margolin Maria Elena Martinez Dimitrios Mavroudis Catriona McLean Alfons Meindl Pooja Middha Nicola Miller Roger L Milne Fernando Moreno Anna Marie Mulligan Claire Mulot Rami Nassir Susan L Neuhausen William T Newman Sune F Nielsen Børge G Nordestgaard Aaron Norman Håkan Olsson Nick Orr V Shane Pankratz Tjoung-Won Park-Simon Jose I A Perez Clara Pérez-Barrios Paolo Peterlongo Christos Petridis Mila Pinchev Karoliona Prajzendanc Ross Prentice Nadege Presneau Darya Prokofieva Katri Pylkäs Brigitte Rack Paolo Radice Dhanya Ramachandran Gadi Rennert Hedy S Rennert Valerie Rhenius Atocha Romero Rebecca Roylance Emmanouil Saloustros Elinor J Sawyer Daniel F Schmidt Rita K Schmutzler Andreas Schneeweiss Minouk J Schoemaker Fredrick Schumacher Lukas Schwentner Rodney J Scott Christopher Scott Caroline Seynaeve Mitul Shah Jacques Simard Ann Smeets Christof Sohn Melissa C Southey Anthony J Swerdlow Aline Talhouk Rulla M Tamimi William J Tapper Manuel R Teixeira Maria Tengström Mary Beth Terry Kathrin Thöne Rob A E M Tollenaar Ian Tomlinson Diana Torres Thérèse Truong Constance Turman Clare Turnbull Hans-Ulrich Ulmer Michael Untch Celine Vachon Christi J van Asperen Ans M W van den Ouweland Elke M van Veen Camilla Wendt Alice S Whittemore Walter Willett Robert Winqvist Alicja Wolk Xiaohong R Yang Yan Zhang Douglas F Easton Peter A Fasching Heli Nevanlinna Diana M Eccles Paul D P Pharoah Marjanka K Schmidt

Br J Cancer 2019 Mar 21;120(6):647-657. Epub 2019 Feb 21.

The Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Division of Molecular Pathology, Amsterdam, The Netherlands.

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http://www.nature.com/articles/s41416-019-0393-x
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http://dx.doi.org/10.1038/s41416-019-0393-xDOI Listing
March 2019

Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val).

Breast Cancer Res Treat 2018 Nov 13;172(2):497-503. Epub 2018 Aug 13.

Molecular Diagnostic Unit, Hereditary Cancer and Ocobell Programs, IDIBELL, Catalan Institute of Oncology, Barcelona, Spain.

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http://dx.doi.org/10.1007/s10549-018-4903-yDOI Listing
November 2018

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.

Authors:
Mara Colombo Irene Lòpez-Perolio Huong D Meeks Laura Caleca Michael T Parsons Hongyan Li Giovanna De Vecchi Emma Tudini Claudia Foglia Patrizia Mondini Siranoush Manoukian Raquel Behar Encarna B Gómez Garcia Alfons Meindl Marco Montagna Dieter Niederacher Ane Y Schmidt Liliana Varesco Barbara Wappenschmidt Manjeet K Bolla Joe Dennis Kyriaki Michailidou Qin Wang Kristiina Aittomäki Irene L Andrulis Hoda Anton-Culver Volker Arndt Matthias W Beckmann Alicia Beeghly-Fadel Javier Benitez Bram Boeckx Natalia V Bogdanova Stig E Bojesen Bernardo Bonanni Hiltrud Brauch Hermann Brenner Barbara Burwinkel Jenny Chang-Claude Don M Conroy Fergus J Couch Angela Cox Simon S Cross Kamila Czene Peter Devilee Thilo Dörk Mikael Eriksson Peter A Fasching Jonine Figueroa Olivia Fletcher Henrik Flyger Marike Gabrielson Montserrat García-Closas Graham G Giles Anna González-Neira Pascal Guénel Christopher A Haiman Per Hall Ute Hamann Mikael Hartman Jan Hauke Antoinette Hollestelle John L Hopper Anna Jakubowska Audrey Jung Veli-Matti Kosma Diether Lambrechts Loid Le Marchand Annika Lindblom Jan Lubinski Arto Mannermaa Sara Margolin Hui Miao Roger L Milne Susan L Neuhausen Heli Nevanlinna Janet E Olson Paolo Peterlongo Julian Peto Katri Pylkäs Elinor J Sawyer Marjanka K Schmidt Rita K Schmutzler Andreas Schneeweiss Minouk J Schoemaker Mee Hoong See Melissa C Southey Anthony Swerdlow Soo H Teo Amanda E Toland Ian Tomlinson Thérèse Truong Christi J van Asperen Ans M W van den Ouweland Lizet E van der Kolk Robert Winqvist Drakoulis Yannoukakos Wei Zheng Alison M Dunning Douglas F Easton Alex Henderson Frans B L Hogervorst Louise Izatt Kenneth Offitt Lucy E Side Elizabeth J van Rensburg Study Embrace Study Hebon Lesley McGuffog Antonis C Antoniou Georgia Chenevix-Trench Amanda B Spurdle David E Goldgar Miguel de la Hoya Paolo Radice

Hum Mutat 2018 05 6;39(5):729-741. Epub 2018 Apr 6.

Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT), Milan, Italy.

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http://dx.doi.org/10.1002/humu.23411DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5947288PMC
May 2018

Acute myeloid leukaemia in a case with Tatton-Brown-Rahman syndrome: the peculiar R882 mutation.

J Med Genet 2017 12 21;54(12):805-808. Epub 2017 Apr 21.

Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2017-104574DOI Listing
December 2017

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.

Authors:
Roger L Milne Karoline B Kuchenbaecker Kyriaki Michailidou Jonathan Beesley Siddhartha Kar Sara Lindström Shirley Hui Audrey Lemaçon Penny Soucy Joe Dennis Xia Jiang Asha Rostamianfar Hilary Finucane Manjeet K Bolla Lesley McGuffog Qin Wang Cora M Aalfs Marcia Adams Julian Adlard Simona Agata Shahana Ahmed Habibul Ahsan Kristiina Aittomäki Fares Al-Ejeh Jamie Allen Christine B Ambrosone Christopher I Amos Irene L Andrulis Hoda Anton-Culver Natalia N Antonenkova Volker Arndt Norbert Arnold Kristan J Aronson Bernd Auber Paul L Auer Margreet G E M Ausems Jacopo Azzollini François Bacot Judith Balmaña Monica Barile Laure Barjhoux Rosa B Barkardottir Myrto Barrdahl Daniel Barnes Daniel Barrowdale Caroline Baynes Matthias W Beckmann Javier Benitez Marina Bermisheva Leslie Bernstein Yves-Jean Bignon Kathleen R Blazer Marinus J Blok Carl Blomqvist William Blot Kristie Bobolis Bram Boeckx Natalia V Bogdanova Anders Bojesen Stig E Bojesen Bernardo Bonanni Anne-Lise Børresen-Dale Aniko Bozsik Angela R Bradbury Judith S Brand Hiltrud Brauch Hermann Brenner Brigitte Bressac-de Paillerets Carole Brewer Louise Brinton Per Broberg Angela Brooks-Wilson Joan Brunet Thomas Brüning Barbara Burwinkel Saundra S Buys Jinyoung Byun Qiuyin Cai Trinidad Caldés Maria A Caligo Ian Campbell Federico Canzian Olivier Caron Angel Carracedo Brian D Carter J Esteban Castelao Laurent Castera Virginie Caux-Moncoutier Salina B Chan Jenny Chang-Claude Stephen J Chanock Xiaoqing Chen Ting-Yuan David Cheng Jocelyne Chiquette Hans Christiansen Kathleen B M Claes Christine L Clarke Thomas Conner Don M Conroy Jackie Cook Emilie Cordina-Duverger Sten Cornelissen Isabelle Coupier Angela Cox David G Cox Simon S Cross Katarina Cuk Julie M Cunningham Kamila Czene Mary B Daly Francesca Damiola Hatef Darabi Rosemarie Davidson Kim De Leeneer Peter Devilee Ed Dicks Orland Diez Yuan Chun Ding Nina Ditsch Kimberly F Doheny Susan M Domchek Cecilia M Dorfling Thilo Dörk Isabel Dos-Santos-Silva Stéphane Dubois Pierre-Antoine Dugué Martine Dumont Alison M Dunning Lorraine Durcan Miriam Dwek Bernd Dworniczak Diana Eccles Ros Eeles Hans Ehrencrona Ursula Eilber Bent Ejlertsen Arif B Ekici A Heather Eliassen Christoph Engel Mikael Eriksson Laura Fachal Laurence Faivre Peter A Fasching Ulrike Faust Jonine Figueroa Dieter Flesch-Janys Olivia Fletcher Henrik Flyger William D Foulkes Eitan Friedman Lin Fritschi Debra Frost Marike Gabrielson Pragna Gaddam Marilie D Gammon Patricia A Ganz Susan M Gapstur Judy Garber Vanesa Garcia-Barberan José A García-Sáenz Mia M Gaudet Marion Gauthier-Villars Andrea Gehrig Vassilios Georgoulias Anne-Marie Gerdes Graham G Giles Gord Glendon Andrew K Godwin Mark S Goldberg David E Goldgar Anna González-Neira Paul Goodfellow Mark H Greene Grethe I Grenaker Alnæs Mervi Grip Jacek Gronwald Anne Grundy Daphne Gschwantler-Kaulich Pascal Guénel Qi Guo Lothar Haeberle Eric Hahnen Christopher A Haiman Niclas Håkansson Emily Hallberg Ute Hamann Nathalie Hamel Susan Hankinson Thomas V O Hansen Patricia Harrington Steven N Hart Jaana M Hartikainen Catherine S Healey Alexander Hein Sonja Helbig Alex Henderson Jane Heyworth Belynda Hicks Peter Hillemanns Shirley Hodgson Frans B Hogervorst Antoinette Hollestelle Maartje J Hooning Bob Hoover John L Hopper Chunling Hu Guanmengqian Huang Peter J Hulick Keith Humphreys David J Hunter Evgeny N Imyanitov Claudine Isaacs Motoki Iwasaki Louise Izatt Anna Jakubowska Paul James Ramunas Janavicius Wolfgang Janni Uffe Birk Jensen Esther M John Nichola Johnson Kristine Jones Michael Jones Arja Jukkola-Vuorinen Rudolf Kaaks Maria Kabisch Katarzyna Kaczmarek Daehee Kang Karin Kast Renske Keeman Michael J Kerin Carolien M Kets Machteld Keupers Sofia Khan Elza Khusnutdinova Johanna I Kiiski Sung-Won Kim Julia A Knight Irene Konstantopoulou Veli-Matti Kosma Vessela N Kristensen Torben A Kruse Ava Kwong Anne-Vibeke Lænkholm Yael Laitman Fiona Lalloo Diether Lambrechts Keren Landsman Christine Lasset Conxi Lazaro Loic Le Marchand Julie Lecarpentier Andrew Lee Eunjung Lee Jong Won Lee Min Hyuk Lee Flavio Lejbkowicz Fabienne Lesueur Jingmei Li Jenna Lilyquist Anne Lincoln Annika Lindblom Jolanta Lissowska Wing-Yee Lo Sibylle Loibl Jirong Long Jennifer T Loud Jan Lubinski Craig Luccarini Michael Lush Robert J MacInnis Tom Maishman Enes Makalic Ivana Maleva Kostovska Kathleen E Malone Siranoush Manoukian JoAnn E Manson Sara Margolin John W M Martens Maria Elena Martinez Keitaro Matsuo Dimitrios Mavroudis Sylvie Mazoyer Catriona McLean Hanne Meijers-Heijboer Primitiva Menéndez Jeffery Meyer Hui Miao Austin Miller Nicola Miller Gillian Mitchell Marco Montagna Kenneth Muir Anna Marie Mulligan Claire Mulot Sue Nadesan Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Ines Nevelsteen Dieter Niederacher Sune F Nielsen Børge G Nordestgaard Aaron Norman Robert L Nussbaum Edith Olah Olufunmilayo I Olopade Janet E Olson Curtis Olswold Kai-Ren Ong Jan C Oosterwijk Nick Orr Ana Osorio V Shane Pankratz Laura Papi Tjoung-Won Park-Simon Ylva Paulsson-Karlsson Rachel Lloyd Inge Søkilde Pedersen Bernard Peissel Ana Peixoto Jose I A Perez Paolo Peterlongo Julian Peto Georg Pfeiler Catherine M Phelan Mila Pinchev Dijana Plaseska-Karanfilska Bruce Poppe Mary E Porteous Ross Prentice Nadege Presneau Darya Prokofieva Elizabeth Pugh Miquel Angel Pujana Katri Pylkäs Brigitte Rack Paolo Radice Nazneen Rahman Johanna Rantala Christine Rappaport-Fuerhauser Gad Rennert Hedy S Rennert Valerie Rhenius Kerstin Rhiem Andrea Richardson Gustavo C Rodriguez Atocha Romero Jane Romm Matti A Rookus Anja Rudolph Thomas Ruediger Emmanouil Saloustros Joyce Sanders Dale P Sandler Suleeporn Sangrajrang Elinor J Sawyer Daniel F Schmidt Minouk J Schoemaker Fredrick Schumacher Peter Schürmann Lukas Schwentner Christopher Scott Rodney J Scott Sheila Seal Leigha Senter Caroline Seynaeve Mitul Shah Priyanka Sharma Chen-Yang Shen Xin Sheng Hermela Shimelis Martha J Shrubsole Xiao-Ou Shu Lucy E Side Christian F Singer Christof Sohn Melissa C Southey John J Spinelli Amanda B Spurdle Christa Stegmaier Dominique Stoppa-Lyonnet Grzegorz Sukiennicki Harald Surowy Christian Sutter Anthony Swerdlow Csilla I Szabo Rulla M Tamimi Yen Y Tan Jack A Taylor Maria-Isabel Tejada Maria Tengström Soo H Teo Mary B Terry Daniel C Tessier Alex Teulé Kathrin Thöne Darcy L Thull Maria Grazia Tibiletti Laima Tihomirova Marc Tischkowitz Amanda E Toland Rob A E M Tollenaar Ian Tomlinson Ling Tong Diana Torres Martine Tranchant Thérèse Truong Kathy Tucker Nadine Tung Jonathan Tyrer Hans-Ulrich Ulmer Celine Vachon Christi J van Asperen David Van Den Berg Ans M W van den Ouweland Elizabeth J van Rensburg Liliana Varesco Raymonda Varon-Mateeva Ana Vega Alessandra Viel Joseph Vijai Daniel Vincent Jason Vollenweider Lisa Walker Zhaoming Wang Shan Wang-Gohrke Barbara Wappenschmidt Clarice R Weinberg Jeffrey N Weitzel Camilla Wendt Jelle Wesseling Alice S Whittemore Juul T Wijnen Walter Willett Robert Winqvist Alicja Wolk Anna H Wu Lucy Xia Xiaohong R Yang Drakoulis Yannoukakos Daniela Zaffaroni Wei Zheng Bin Zhu Argyrios Ziogas Elad Ziv Kristin K Zorn Manuela Gago-Dominguez Arto Mannermaa Håkan Olsson Manuel R Teixeira Jennifer Stone Kenneth Offit Laura Ottini Sue K Park Mads Thomassen Per Hall Alfons Meindl Rita K Schmutzler Arnaud Droit Gary D Bader Paul D P Pharoah Fergus J Couch Douglas F Easton Peter Kraft Georgia Chenevix-Trench Montserrat García-Closas Marjanka K Schmidt Antonis C Antoniou Jacques Simard

Nat Genet 2017 Dec 23;49(12):1767-1778. Epub 2017 Oct 23.

Genomics Center, Centre Hospitalier Universitaire de Québec Research Center, Laval University, Québec City, Québec, Canada.

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http://dx.doi.org/10.1038/ng.3785DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5808456PMC
December 2017

Body mass index and breast cancer survival: a Mendelian randomization analysis.

Authors:
Qi Guo Stephen Burgess Constance Turman Manjeet K Bolla Qin Wang Michael Lush Jean Abraham Kristiina Aittomäki Irene L Andrulis Carmel Apicella Volker Arndt Myrto Barrdahl Javier Benitez Christine D Berg Carl Blomqvist Stig E Bojesen Bernardo Bonanni Judith S Brand Hermann Brenner Annegien Broeks Barbara Burwinkel Carlos Caldas Daniele Campa Federico Canzian Jenny Chang-Claude Stephen J Chanock Suet-Feung Chin Fergus J Couch Angela Cox Simon S Cross Cezary Cybulski Kamila Czene Hatef Darabi Peter Devilee W Ryan Diver Alison M Dunning Helena M Earl Diana M Eccles Arif B Ekici Mikael Eriksson D Gareth Evans Peter A Fasching Jonine Figueroa Dieter Flesch-Janys Henrik Flyger Susan M Gapstur Mia M Gaudet Graham G Giles Gord Glendon Mervi Grip Jacek Gronwald Lothar Haeberle Christopher A Haiman Per Hall Ute Hamann Susan Hankinson Jaana M Hartikainen Alexander Hein Louise Hiller Frans B Hogervorst Bernd Holleczek Maartje J Hooning Robert N Hoover Keith Humphreys David J Hunter Anika Hüsing Anna Jakubowska Arja Jukkola-Vuorinen Rudolf Kaaks Maria Kabisch Vesa Kataja Julia A Knight Linetta B Koppert Veli-Matti Kosma Vessela N Kristensen Diether Lambrechts Loic Le Marchand Jingmei Li Annika Lindblom Sara Lindström Jolanta Lissowska Jan Lubinski Mitchell J Machiela Arto Mannermaa Siranoush Manoukian Sara Margolin Federik Marme John W M Martens Catriona McLean Primitiva Menéndez Roger L Milne Anna Marie Mulligan Taru A Muranen Heli Nevanlinna Patrick Neven Sune F Nielsen Børge G Nordestgaard Janet E Olson Jose I A Perez Paolo Peterlongo Kelly-Anne Phillips Christopher J Poole Katri Pylkäs Paolo Radice Nazneen Rahman Thomas Rüdiger Anja Rudolph Elinor J Sawyer Fredrick Schumacher Petra Seibold Caroline Seynaeve Mitul Shah Ann Smeets Melissa C Southey Rob A E M Tollenaar Ian Tomlinson Helen Tsimiklis Hans-Ulrich Ulmer Celine Vachon Ans M W van den Ouweland Laura J Van't Veer Hans Wildiers Walter Willett Robert Winqvist M Pilar Zamora Georgia Chenevix-Trench Thilo Dörk Douglas F Easton Montserrat García-Closas Peter Kraft John L Hopper Wei Zheng Marjanka K Schmidt Paul D P Pharoah

Int J Epidemiol 2017 12;46(6):1814-1822

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.

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https://academic.oup.com/ije/article/46/6/1814/4384748
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http://dx.doi.org/10.1093/ije/dyx131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5837506PMC
December 2017

Association analysis identifies 65 new breast cancer risk loci.

Authors:
Kyriaki Michailidou Sara Lindström Joe Dennis Jonathan Beesley Shirley Hui Siddhartha Kar Audrey Lemaçon Penny Soucy Dylan Glubb Asha Rostamianfar Manjeet K Bolla Qin Wang Jonathan Tyrer Ed Dicks Andrew Lee Zhaoming Wang Jamie Allen Renske Keeman Ursula Eilber Juliet D French Xiao Qing Chen Laura Fachal Karen McCue Amy E McCart Reed Maya Ghoussaini Jason S Carroll Xia Jiang Hilary Finucane Marcia Adams Muriel A Adank Habibul Ahsan Kristiina Aittomäki Hoda Anton-Culver Natalia N Antonenkova Volker Arndt Kristan J Aronson Banu Arun Paul L Auer François Bacot Myrto Barrdahl Caroline Baynes Matthias W Beckmann Sabine Behrens Javier Benitez Marina Bermisheva Leslie Bernstein Carl Blomqvist Natalia V Bogdanova Stig E Bojesen Bernardo Bonanni Anne-Lise Børresen-Dale Judith S Brand Hiltrud Brauch Paul Brennan Hermann Brenner Louise 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 Angel Carracedo Brian D Carter Jose E Castelao Tsun L Chan Ting-Yuan David Cheng Kee Seng Chia Ji-Yeob Choi Hans Christiansen Christine L Clarke Margriet Collée Don M 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 M Eccles Arif B Ekici A Heather Eliassen Carolina Ellberg Mingajeva Elvira Christoph Engel Mikael Eriksson Peter A Fasching Jonine Figueroa Dieter Flesch-Janys Olivia Fletcher Henrik Flyger Lin Fritschi Valerie Gaborieau Marike Gabrielson Manuela Gago-Dominguez Yu-Tang Gao Susan M Gapstur José A García-Sáenz Mia M Gaudet Vassilios Georgoulias Graham G Giles Gord Glendon Mark S Goldberg David E Goldgar Anna González-Neira Grethe I Grenaker Alnæs Mervi Grip Jacek Gronwald Anne Grundy Pascal Guénel Lothar Haeberle Eric Hahnen Christopher A Haiman Niclas Håkansson Ute Hamann Nathalie Hamel Susan Hankinson Patricia Harrington Steven N Hart Jaana M Hartikainen Mikael Hartman Alexander Hein Jane Heyworth Belynda Hicks Peter Hillemanns Dona N Ho Antoinette Hollestelle Maartje J Hooning Robert N Hoover John L Hopper Ming-Feng Hou Chia-Ni Hsiung Guanmengqian Huang Keith Humphreys Junko Ishiguro Hidemi Ito Motoki Iwasaki Hiroji Iwata Anna Jakubowska Wolfgang Janni Esther M John Nichola Johnson Kristine Jones Michael Jones Arja Jukkola-Vuorinen Rudolf Kaaks Maria Kabisch Katarzyna Kaczmarek Daehee Kang Yoshio Kasuga Michael J Kerin Sofia Khan Elza Khusnutdinova Johanna I Kiiski Sung-Won Kim Julia A Knight Veli-Matti Kosma Vessela N Kristensen Ute Krüger Ava Kwong Diether Lambrechts Loic Le Marchand Eunjung Lee Min Hyuk Lee Jong Won Lee Chuen Neng Lee Flavio Lejbkowicz Jingmei Li Jenna Lilyquist Annika Lindblom Jolanta Lissowska Wing-Yee Lo Sibylle Loibl Jirong Long Artitaya Lophatananon Jan Lubinski Craig Luccarini Michael P Lux Edmond S K Ma Robert J MacInnis Tom Maishman Enes Makalic Kathleen E Malone Ivana Maleva Kostovska Arto Mannermaa Siranoush Manoukian JoAnn E Manson Sara Margolin Shivaani Mariapun Maria Elena Martinez Keitaro Matsuo Dimitrios Mavroudis James McKay Catriona McLean Hanne Meijers-Heijboer Alfons Meindl Primitiva Menéndez Usha Menon Jeffery Meyer Hui Miao Nicola Miller Nur Aishah Mohd Taib Kenneth Muir Anna Marie Mulligan Claire Mulot Susan L Neuhausen Heli Nevanlinna Patrick Neven Sune F Nielsen Dong-Young Noh Børge G Nordestgaard Aaron Norman Olufunmilayo I Olopade Janet E Olson Håkan Olsson Curtis Olswold Nick Orr V Shane Pankratz Sue K Park Tjoung-Won Park-Simon Rachel Lloyd Jose I A Perez Paolo Peterlongo Julian Peto Kelly-Anne Phillips Mila Pinchev Dijana Plaseska-Karanfilska Ross Prentice Nadege Presneau Darya Prokofyeva Elizabeth Pugh Katri Pylkäs Brigitte Rack Paolo Radice Nazneen Rahman Gadi Rennert Hedy S Rennert Valerie Rhenius Atocha Romero Jane Romm Kathryn J Ruddy Thomas Rüdiger Anja Rudolph Matthias Ruebner Emiel J T Rutgers Emmanouil Saloustros Dale P Sandler Suleeporn Sangrajrang Elinor J Sawyer Daniel F Schmidt Rita K Schmutzler Andreas Schneeweiss Minouk J Schoemaker Fredrick Schumacher Peter Schürmann Rodney J Scott Christopher Scott Sheila Seal Caroline Seynaeve Mitul Shah Priyanka Sharma Chen-Yang Shen Grace Sheng Mark E Sherman Martha J Shrubsole Xiao-Ou Shu Ann Smeets Christof Sohn Melissa C Southey John J Spinelli Christa Stegmaier Sarah Stewart-Brown Jennifer Stone Daniel O Stram Harald Surowy Anthony Swerdlow Rulla Tamimi Jack A Taylor Maria Tengström Soo H Teo Mary Beth Terry Daniel C Tessier Somchai Thanasitthichai Kathrin Thöne Rob A E M Tollenaar Ian Tomlinson Ling Tong Diana Torres Thérèse Truong Chiu-Chen Tseng Shoichiro Tsugane Hans-Ulrich Ulmer Giske Ursin Michael Untch Celine Vachon Christi J van Asperen David Van Den Berg Ans M W van den Ouweland Lizet van der Kolk Rob B van der Luijt Daniel Vincent Jason Vollenweider Quinten Waisfisz Shan Wang-Gohrke Clarice R Weinberg Camilla Wendt Alice S Whittemore Hans Wildiers Walter Willett Robert Winqvist Alicja Wolk Anna H Wu Lucy Xia Taiki Yamaji Xiaohong R Yang Cheng Har Yip Keun-Young Yoo Jyh-Cherng Yu Wei Zheng Ying Zheng Bin Zhu Argyrios Ziogas Elad Ziv Sunil R Lakhani Antonis C Antoniou Arnaud Droit Irene L Andrulis Christopher I Amos Fergus J Couch Paul D P Pharoah Jenny Chang-Claude Per Hall David J Hunter Roger L Milne Montserrat García-Closas Marjanka K Schmidt Stephen J Chanock Alison M Dunning Stacey L Edwards Gary D Bader Georgia Chenevix-Trench Jacques Simard Peter Kraft Douglas F Easton

Nature 2017 11 23;551(7678):92-94. Epub 2017 Oct 23.

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.

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http://dx.doi.org/10.1038/nature24284DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5798588PMC
November 2017

Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease.

Orphanet J Rare Dis 2017 02 10;12(1):28. Epub 2017 Feb 10.

Department of Clinical Chemistry and Transfusion Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.

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http://dx.doi.org/10.1186/s13023-017-0584-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5303239PMC
February 2017

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

Authors:
Yosr Hamdi Penny Soucy Karoline B Kuchenbaeker Tomi Pastinen Arnaud Droit Audrey Lemaçon Julian Adlard Kristiina Aittomäki Irene L Andrulis Adalgeir Arason Norbert Arnold Banu K Arun Jacopo Azzollini Anita Bane Laure Barjhoux Daniel Barrowdale Javier Benitez Pascaline Berthet Marinus J Blok Kristie Bobolis Valérie Bonadona Bernardo Bonanni Angela R Bradbury Carole Brewer Bruno Buecher Saundra S Buys Maria A Caligo Jocelyne Chiquette Wendy K Chung Kathleen B M Claes Mary B Daly Francesca Damiola Rosemarie Davidson Miguel De la Hoya Kim De Leeneer Orland Diez Yuan Chun Ding Riccardo Dolcetti Susan M Domchek Cecilia M Dorfling Diana Eccles Ros Eeles Zakaria Einbeigi Bent Ejlertsen Christoph Engel D Gareth Evans Lidia Feliubadalo Lenka Foretova Florentia Fostira William D Foulkes George Fountzilas Eitan Friedman Debra Frost Pamela Ganschow Patricia A Ganz Judy Garber Simon A Gayther Anne-Marie Gerdes Gord Glendon Andrew K Godwin David E Goldgar Mark H Greene Jacek Gronwald Eric Hahnen Ute Hamann Thomas V O Hansen Steven Hart John L Hays Frans B L Hogervorst Peter J Hulick Evgeny N Imyanitov Claudine Isaacs Louise Izatt Anna Jakubowska Paul James Ramunas Janavicius Uffe Birk Jensen Esther M John Vijai Joseph Walter Just Katarzyna Kaczmarek Beth Y Karlan Carolien M Kets Judy Kirk Mieke Kriege Yael Laitman Maïté Laurent Conxi Lazaro Goska Leslie Jenny Lester Fabienne Lesueur Annelie Liljegren Niklas Loman Jennifer T Loud Siranoush Manoukian Milena Mariani Sylvie Mazoyer Lesley McGuffog Hanne E J Meijers-Heijboer Alfons Meindl Austin Miller Marco Montagna Anna Marie Mulligan Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Robert L Nussbaum Edith Olah Olufunmilayo I Olopade Kai-Ren Ong Jan C Oosterwijk Ana Osorio Laura Papi Sue Kyung Park Inge Sokilde Pedersen Bernard Peissel Pedro Perez Segura Paolo Peterlongo Catherine M Phelan Paolo Radice Johanna Rantala Christine Rappaport-Fuerhauser Gad Rennert Andrea Richardson Mark Robson Gustavo C Rodriguez Matti A Rookus Rita Katharina Schmutzler Nicolas Sevenet Payal D Shah Christian F Singer Thomas P Slavin Katie Snape Johanna Sokolowska Ida Marie Heeholm Sønderstrup Melissa Southey Amanda B Spurdle Zsofia Stadler Dominique Stoppa-Lyonnet Grzegorz Sukiennicki Christian Sutter Yen Tan Muy-Kheng Tea Manuel R Teixeira Alex Teulé Soo-Hwang Teo Mary Beth Terry Mads Thomassen Laima Tihomirova Marc Tischkowitz Silvia Tognazzo Amanda Ewart Toland Nadine Tung Ans M W van den Ouweland Rob B van der Luijt Klaartje van Engelen Elizabeth J van Rensburg Raymonda Varon-Mateeva Barbara Wappenschmidt Juul T Wijnen Timothy Rebbeck Georgia Chenevix-Trench Kenneth Offit Fergus J Couch Silje Nord Douglas F Easton Antonis C Antoniou Jacques Simard

Breast Cancer Res Treat 2017 01 28;161(1):117-134. Epub 2016 Oct 28.

Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec, QC, G1V 4G2, Canada.

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http://dx.doi.org/10.1007/s10549-016-4018-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5222911PMC
January 2017

Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21.

Oncotarget 2016 Dec;7(49):80140-80163

Genomics Center, Centre Hospitalier Universitaire de Québec Research Center, Laval University, Quebec, Canada.

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http://dx.doi.org/10.18632/oncotarget.12818DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340257PMC
December 2016

rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk.

Authors:
Jingjing Liu Ivona Lončar J Margriet Collée Manjeet K Bolla Joe Dennis Kyriaki Michailidou Qin Wang Irene L Andrulis Monica Barile Matthias W Beckmann Sabine Behrens Javier Benitez Carl Blomqvist Bram Boeckx Natalia V Bogdanova Stig E Bojesen Hiltrud Brauch Paul Brennan Hermann Brenner Annegien Broeks Barbara Burwinkel Jenny Chang-Claude Shou-Tung Chen Georgia Chenevix-Trench Ching Y Cheng Ji-Yeob Choi Fergus J Couch Angela Cox Simon S Cross Katarina Cuk Kamila Czene Thilo Dörk Isabel Dos-Santos-Silva Peter A Fasching Jonine Figueroa Henrik Flyger Montserrat García-Closas Graham G Giles Gord Glendon Mark S Goldberg Anna González-Neira Pascal Guénel Christopher A Haiman Ute Hamann Steven N Hart Mikael Hartman Sigrid Hatse John L Hopper Hidemi Ito Anna Jakubowska Maria Kabisch Daehee Kang Veli-Matti Kosma Vessela N Kristensen Loic Le Marchand Eunjung Lee Jingmei Li Artitaya Lophatananon Jan Lubinski Arto Mannermaa Keitaro Matsuo Roger L Milne Susan L Neuhausen Heli Nevanlinna Nick Orr Jose I A Perez Julian Peto Thomas C Putti Katri Pylkäs Paolo Radice Suleeporn Sangrajrang Elinor J Sawyer Marjanka K Schmidt Andreas Schneeweiss Chen-Yang Shen Martha J Shrubsole Xiao-Ou Shu Jacques Simard Melissa C Southey Anthony Swerdlow Soo H Teo Daniel C Tessier Somchai Thanasitthichai Ian Tomlinson Diana Torres Thérèse Truong Chiu-Chen Tseng Celine Vachon Robert Winqvist Anna H Wu Drakoulis Yannoukakos Wei Zheng Per Hall Alison M Dunning Douglas F Easton Maartje J Hooning Ans M W van den Ouweland John W M Martens Antoinette Hollestelle

Sci Rep 2016 11 15;6:36874. Epub 2016 Nov 15.

Department of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1038/srep36874DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5109293PMC
November 2016

Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer.

Authors:
Jiajun Shi Yanfeng Zhang Wei Zheng Kyriaki Michailidou Maya Ghoussaini Manjeet K Bolla Qin Wang Joe Dennis Michael Lush Roger L Milne Xiao-Ou Shu Jonathan Beesley Siddhartha Kar Irene L Andrulis Hoda Anton-Culver Volker Arndt Matthias W Beckmann Zhiguo Zhao Xingyi Guo Javier Benitez Alicia Beeghly-Fadiel William Blot Natalia V Bogdanova Stig E Bojesen Hiltrud Brauch Hermann Brenner Louise Brinton Annegien Broeks Thomas Brüning Barbara Burwinkel Hui Cai Sander Canisius Jenny Chang-Claude Ji-Yeob Choi Fergus J Couch Angela Cox Simon S Cross Kamila Czene Hatef Darabi Peter Devilee Arnaud Droit Thilo Dork Peter A Fasching Olivia Fletcher Henrik Flyger Florentia Fostira Valerie Gaborieau Montserrat García-Closas Graham G Giles Pascal Guenel Christopher A Haiman Ute Hamann Mikael Hartman Hui Miao Antoinette Hollestelle John L Hopper Chia-Ni Hsiung Hidemi Ito Anna Jakubowska Nichola Johnson Diana Torres Maria Kabisch Daehee Kang Sofia Khan Julia A Knight Veli-Matti Kosma Diether Lambrechts Jingmei Li Annika Lindblom Artitaya Lophatananon Jan Lubinski Arto Mannermaa Siranoush Manoukian Loic Le Marchand Sara Margolin Frederik Marme Keitaro Matsuo Catriona McLean Alfons Meindl Kenneth Muir Susan L Neuhausen Heli Nevanlinna Silje Nord Anne-Lise Børresen-Dale Janet E Olson Nick Orr Ans M W van den Ouweland Paolo Peterlongo Thomas Choudary Putti Anja Rudolph Suleeporn Sangrajrang Elinor J Sawyer Marjanka K Schmidt Rita K Schmutzler Chen-Yang Shen Ming-Feng Hou Matha J Shrubsole Melissa C Southey Anthony Swerdlow Soo Hwang Teo Bernard Thienpont Amanda E Toland Robert A E M Tollenaar Ian Tomlinson Therese Truong Chiu-Chen Tseng Wanqing Wen Robert Winqvist Anna H Wu Cheng Har Yip Pilar M Zamora Ying Zheng Giuseppe Floris Ching-Yu Cheng Maartje J Hooning John W M Martens Caroline Seynaeve Vessela N Kristensen Per Hall Paul D P Pharoah Jacques Simard Georgia Chenevix-Trench Alison M Dunning Antonis C Antoniou Douglas F Easton Qiuyin Cai Jirong Long

Int J Cancer 2016 Sep 17;139(6):1303-1317. Epub 2016 Jun 17.

Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37203, USA.

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http://dx.doi.org/10.1002/ijc.30150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110427PMC
September 2016

An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression.

Authors:
Asaf Wyszynski Chi-Chen Hong Kristin Lam Kyriaki Michailidou Christian Lytle Song Yao Yali Zhang Manjeet K Bolla Qin Wang Joe Dennis John L Hopper Melissa C Southey Marjanka K Schmidt Annegien Broeks Kenneth Muir Artitaya Lophatananon Peter A Fasching Matthias W Beckmann Julian Peto Isabel Dos-Santos-Silva Elinor J Sawyer Ian Tomlinson Barbara Burwinkel Frederik Marme Pascal Guénel Thérèse Truong Stig E Bojesen Børge G Nordestgaard Anna González-Neira Javier Benitez Susan L Neuhausen Hermann Brenner Aida Karina Dieffenbach Alfons Meindl Rita K Schmutzler Hiltrud Brauch Heli Nevanlinna Sofia Khan Keitaro Matsuo Hidemi Ito Thilo Dörk Natalia V Bogdanova Annika Lindblom Sara Margolin Arto Mannermaa Veli-Matti Kosma Anna H Wu David Van Den Berg Diether Lambrechts Hans Wildiers Jenny Chang-Claude Anja Rudolph Paolo Radice Paolo Peterlongo Fergus J Couch Janet E Olson Graham G Giles Roger L Milne Christopher A Haiman Brian E Henderson Martine Dumont Soo Hwang Teo Tien Y Wong Vessela Kristensen Wei Zheng Jirong Long Robert Winqvist Katri Pylkäs Irene L Andrulis Julia A Knight Peter Devilee Caroline Seynaeve Montserrat García-Closas Jonine Figueroa Daniel Klevebring Kamila Czene Maartje J Hooning Ans M W van den Ouweland Hatef Darabi Xiao-Ou Shu Yu-Tang Gao Angela Cox William Blot Lisa B Signorello Mitul Shah Daehee Kang Ji-Yeob Choi Mikael Hartman Hui Miao Ute Hamann Anna Jakubowska Jan Lubinski Suleeporn Sangrajrang James McKay Amanda E Toland Drakoulis Yannoukakos Chen-Yang Shen Pei-Ei Wu Anthony Swerdlow Nick Orr Jacques Simard Paul D P Pharoah Alison M Dunning Georgia Chenevix-Trench Per Hall Elisa Bandera Chris Amos Christine Ambrosone Douglas F Easton Michael D Cole

Hum Mol Genet 2016 09 11;25(17):3863-3876. Epub 2016 Jul 11.

Department of Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH 03755, USA

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http://dx.doi.org/10.1093/hmg/ddw223DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5216618PMC
September 2016

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus.

Authors:
Kate Lawrenson Siddhartha Kar Karen McCue Karoline Kuchenbaeker Kyriaki Michailidou Jonathan Tyrer Jonathan Beesley Susan J Ramus Qiyuan Li Melissa K Delgado Janet M Lee Kristiina Aittomäki Irene L Andrulis Hoda Anton-Culver Volker Arndt Banu K Arun Brita Arver Elisa V Bandera Monica Barile Rosa B Barkardottir Daniel Barrowdale Matthias W Beckmann Javier Benitez Andrew Berchuck Maria Bisogna Line Bjorge Carl Blomqvist William Blot Natalia Bogdanova Anders Bojesen Stig E Bojesen Manjeet K Bolla Bernardo Bonanni Anne-Lise Børresen-Dale Hiltrud Brauch Paul Brennan Hermann Brenner Fiona Bruinsma Joan Brunet Shaik Ahmad Buhari Barbara Burwinkel Ralf Butzow Saundra S Buys Qiuyin Cai Trinidad Caldes Ian Campbell Rikki Canniotto Jenny Chang-Claude Jocelyne Chiquette Ji-Yeob Choi Kathleen B M Claes Linda S Cook Angela Cox Daniel W Cramer Simon S Cross Cezary Cybulski Kamila Czene Mary B Daly Francesca Damiola Agnieszka Dansonka-Mieszkowska Hatef Darabi Joe Dennis Peter Devilee Orland Diez Jennifer A Doherty Susan M Domchek Cecilia M Dorfling Thilo Dörk Martine Dumont Hans Ehrencrona Bent Ejlertsen Steve Ellis Christoph Engel Eunjung Lee D Gareth Evans Peter A Fasching Lidia Feliubadalo Jonine Figueroa Dieter Flesch-Janys Olivia Fletcher Henrik Flyger Lenka Foretova Florentia Fostira William D Foulkes Brooke L Fridley Eitan Friedman Debra Frost Gaetana Gambino Patricia A Ganz Judy Garber Montserrat García-Closas Aleksandra Gentry-Maharaj Maya Ghoussaini Graham G Giles Rosalind Glasspool Andrew K Godwin Mark S Goldberg David E Goldgar Anna González-Neira Ellen L Goode Marc T Goodman Mark H Greene Jacek Gronwald Pascal Guénel Christopher A Haiman Per Hall Emily Hallberg Ute Hamann Thomas V O Hansen Patricia A Harrington Mikael Hartman Norhashimah Hassan Sue Healey Florian Heitz Josef Herzog Estrid Høgdall Claus K Høgdall Frans B L Hogervorst Antoinette Hollestelle John L Hopper Peter J Hulick Tomasz Huzarski Evgeny N Imyanitov Claudine Isaacs Hidemi Ito Anna Jakubowska Ramunas Janavicius Allan Jensen Esther M John Nichola Johnson Maria Kabisch Daehee Kang Miroslav Kapuscinski Beth Y Karlan Sofia Khan Lambertus A Kiemeney Susanne Kruger Kjaer Julia A Knight Irene Konstantopoulou Veli-Matti Kosma Vessela Kristensen Jolanta Kupryjanczyk Ava Kwong Miguel de la Hoya Yael Laitman Diether Lambrechts Nhu Le Kim De Leeneer Jenny Lester Douglas A Levine Jingmei Li Annika Lindblom Jirong Long Artitaya Lophatananon Jennifer T Loud Karen Lu Jan Lubinski Arto Mannermaa Siranoush Manoukian Loic Le Marchand Sara Margolin Frederik Marme Leon F A G Massuger Keitaro Matsuo Sylvie Mazoyer Lesley McGuffog Catriona McLean Iain McNeish Alfons Meindl Usha Menon Arjen R Mensenkamp Roger L Milne Marco Montagna Kirsten B Moysich Kenneth Muir Anna Marie Mulligan Katherine L Nathanson Roberta B Ness Susan L Neuhausen Heli Nevanlinna Silje Nord Robert L Nussbaum Kunle Odunsi Kenneth Offit Edith Olah Olufunmilayo I Olopade Janet E Olson Curtis Olswold David O'Malley Irene Orlow Nick Orr Ana Osorio Sue Kyung Park Celeste L Pearce Tanja Pejovic Paolo Peterlongo Georg Pfeiler Catherine M Phelan Elizabeth M Poole Katri Pylkäs Paolo Radice Johanna Rantala Muhammad Usman Rashid Gad Rennert Valerie Rhenius Kerstin Rhiem Harvey A Risch Gus Rodriguez Mary Anne Rossing Anja Rudolph Helga B Salvesen Suleeporn Sangrajrang Elinor J Sawyer Joellen M Schildkraut Marjanka K Schmidt Rita K Schmutzler Thomas A Sellers Caroline Seynaeve Mitul Shah Chen-Yang Shen Xiao-Ou Shu Weiva Sieh Christian F Singer Olga M Sinilnikova Susan Slager Honglin Song Penny Soucy Melissa C Southey Marie Stenmark-Askmalm Dominique Stoppa-Lyonnet Christian Sutter Anthony Swerdlow Sandrine Tchatchou Manuel R Teixeira Soo H Teo Kathryn L Terry Mary Beth Terry Mads Thomassen Maria Grazia Tibiletti Laima Tihomirova Silvia Tognazzo Amanda Ewart Toland Ian Tomlinson Diana Torres Thérèse Truong Chiu-Chen Tseng Nadine Tung Shelley S Tworoger Celine Vachon Ans M W van den Ouweland Helena C van Doorn Elizabeth J van Rensburg Laura J Van't Veer Adriaan Vanderstichele Ignace Vergote Joseph Vijai Qin Wang Shan Wang-Gohrke Jeffrey N Weitzel Nicolas Wentzensen Alice S Whittemore Hans Wildiers Robert Winqvist Anna H Wu Drakoulis Yannoukakos Sook-Yee Yoon Jyh-Cherng Yu Wei Zheng Ying Zheng Kum Kum Khanna Jacques Simard Alvaro N Monteiro Juliet D French Fergus J Couch Matthew L Freedman Douglas F Easton Alison M Dunning Paul D Pharoah Stacey L Edwards Georgia Chenevix-Trench Antonis C Antoniou Simon A Gayther

Nat Commun 2016 09 7;7:12675. Epub 2016 Sep 7.

Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, California 90033, USA.

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http://dx.doi.org/10.1038/ncomms12675DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5023955PMC
September 2016

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus.

Authors:
Chenjie Zeng Xingyi Guo Jirong Long Karoline B Kuchenbaecker Arnaud Droit Kyriaki Michailidou Maya Ghoussaini Siddhartha Kar Adam Freeman John L Hopper Roger L Milne Manjeet K Bolla Qin Wang Joe Dennis Simona Agata Shahana Ahmed Kristiina Aittomäki Irene L Andrulis Hoda Anton-Culver Natalia N Antonenkova Adalgeir Arason Volker Arndt Banu K Arun Brita Arver Francois Bacot Daniel Barrowdale Caroline Baynes Alicia Beeghly-Fadiel Javier Benitez Marina Bermisheva Carl Blomqvist William J Blot Natalia V Bogdanova Stig E Bojesen Bernardo Bonanni Anne-Lise Borresen-Dale Judith S Brand Hiltrud Brauch Paul Brennan Hermann Brenner Annegien Broeks Thomas Brüning Barbara Burwinkel Saundra S Buys Qiuyin Cai Trinidad Caldes Ian Campbell Jane Carpenter Jenny Chang-Claude Ji-Yeob Choi Kathleen B M Claes Christine Clarke Angela Cox Simon S Cross Kamila Czene Mary B Daly Miguel de la Hoya Kim De Leeneer Peter Devilee Orland Diez Susan M Domchek Michele Doody Cecilia M Dorfling Thilo Dörk Isabel Dos-Santos-Silva Martine Dumont Miriam Dwek Bernd Dworniczak Kathleen Egan Ursula Eilber Zakaria Einbeigi Bent Ejlertsen Steve Ellis Debra Frost Fiona Lalloo Peter A Fasching Jonine Figueroa Henrik Flyger Michael Friedlander Eitan Friedman Gaetana Gambino Yu-Tang Gao Judy Garber Montserrat García-Closas Andrea Gehrig Francesca Damiola Fabienne Lesueur Sylvie Mazoyer Dominique Stoppa-Lyonnet Graham G Giles Andrew K Godwin David E Goldgar Anna González-Neira Mark H Greene Pascal Guénel Lothar Haeberle Christopher A Haiman Emily Hallberg Ute Hamann Thomas V O Hansen Steven Hart Jaana M Hartikainen Mikael Hartman Norhashimah Hassan Sue Healey Frans B L Hogervorst Senno Verhoef Carolyn B Hendricks Peter Hillemanns Antoinette Hollestelle Peter J Hulick David J Hunter Evgeny N Imyanitov Claudine Isaacs Hidemi Ito Anna Jakubowska Ramunas Janavicius Katarzyna Jaworska-Bieniek Uffe Birk Jensen Esther M John Charles Joly Beauparlant Michael Jones Maria Kabisch Daehee Kang Beth Y Karlan Saila Kauppila Michael J Kerin Sofia Khan Elza Khusnutdinova Julia A Knight Irene Konstantopoulou Peter Kraft Ava Kwong Yael Laitman Diether Lambrechts Conxi Lazaro Loic Le Marchand Chuen Neng Lee Min Hyuk Lee Jenny Lester Jingmei Li Annelie Liljegren Annika Lindblom Artitaya Lophatananon Jan Lubinski Phuong L Mai Arto Mannermaa Siranoush Manoukian Sara Margolin Frederik Marme Keitaro Matsuo Lesley McGuffog Alfons Meindl Florence Menegaux Marco Montagna Kenneth Muir Anna Marie Mulligan Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Polly A Newcomb Silje Nord Robert L Nussbaum Kenneth Offit Edith Olah Olufunmilayo I Olopade Curtis Olswold Ana Osorio Laura Papi Tjoung-Won Park-Simon Ylva Paulsson-Karlsson Stephanie Peeters Bernard Peissel Paolo Peterlongo Julian Peto Georg Pfeiler Catherine M Phelan Nadege Presneau Paolo Radice Nazneen Rahman Susan J Ramus Muhammad Usman Rashid Gad Rennert Kerstin Rhiem Anja Rudolph Ritu Salani Suleeporn Sangrajrang Elinor J Sawyer Marjanka K Schmidt Rita K Schmutzler Minouk J Schoemaker Peter Schürmann Caroline Seynaeve Chen-Yang Shen Martha J Shrubsole Xiao-Ou Shu Alice Sigurdson Christian F Singer Susan Slager Penny Soucy Melissa Southey Doris Steinemann Anthony Swerdlow Csilla I Szabo Sandrine Tchatchou Manuel R Teixeira Soo H Teo Mary Beth Terry Daniel C Tessier Alex Teulé Mads Thomassen Laima Tihomirova Marc Tischkowitz Amanda E Toland Nadine Tung Clare Turnbull Ans M W van den Ouweland Elizabeth J van Rensburg David Ven den Berg Joseph Vijai Shan Wang-Gohrke Jeffrey N Weitzel Alice S Whittemore Robert Winqvist Tien Y Wong Anna H Wu Drakoulis Yannoukakos Jyh-Cherng Yu Paul D P Pharoah Per Hall Georgia Chenevix-Trench Alison M Dunning Jacques Simard Fergus J Couch Antonis C Antoniou Douglas F Easton Wei Zheng

Breast Cancer Res 2016 06 21;18(1):64. Epub 2016 Jun 21.

Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, 2525 West End Avenue, 8th Floor, Nashville, TN, 37203-1738, USA.

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http://dx.doi.org/10.1186/s13058-016-0718-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4962376PMC
June 2016

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

Authors:
Antoinette Hollestelle Frederieke H van der Baan Andrew Berchuck Sharon E Johnatty Katja K Aben Bjarni A Agnarsson Kristiina Aittomäki Elisa Alducci Irene L Andrulis Hoda Anton-Culver Natalia N Antonenkova Antonis C Antoniou Carmel Apicella Volker Arndt Norbert Arnold Banu K Arun Brita Arver Alan Ashworth Laura Baglietto Rosemary Balleine Elisa V Bandera Daniel Barrowdale Yukie T Bean Lars Beckmann Matthias W Beckmann Javier Benitez Andreas Berger Raanan Berger Benoit Beuselinck Maria Bisogna Line Bjorge Carl Blomqvist Natalia V Bogdanova Anders Bojesen Stig E Bojesen Manjeet K Bolla Bernardo Bonanni Judith S Brand Hiltrud Brauch Hermann Brenner Louise Brinton Angela Brooks-Wilson Fiona Bruinsma Joan Brunet Thomas Brüning Agnieszka Budzilowska Clareann H Bunker Barbara Burwinkel Ralf Butzow Saundra S Buys Maria A Caligo Ian Campbell Jonathan Carter Jenny Chang-Claude Stephen J Chanock Kathleen B M Claes J Margriet Collée Linda S Cook Fergus J Couch Angela Cox Daniel Cramer Simon S Cross Julie M Cunningham Cezary Cybulski Kamila Czene Francesca Damiola Agnieszka Dansonka-Mieszkowska Hatef Darabi Miguel de la Hoya Anna deFazio Joseph Dennis Peter Devilee Ed M Dicks Orland Diez Jennifer A Doherty Susan M Domchek Cecilia M Dorfling Thilo Dörk Isabel Dos Santos Silva Andreas du Bois Martine Dumont Alison M Dunning Mercedes Duran Douglas F Easton Diana Eccles Robert P Edwards Hans Ehrencrona Bent Ejlertsen Arif B Ekici Steve D Ellis Christoph Engel Mikael Eriksson Peter A Fasching Lidia Feliubadalo Jonine Figueroa Dieter Flesch-Janys Olivia Fletcher Annette Fontaine Stefano Fortuzzi Florentia Fostira Brooke L Fridley Tara Friebel Eitan Friedman Grace Friel Debra Frost Judy Garber Montserrat García-Closas Simon A Gayther Aleksandra Gentry-Maharaj Anne-Marie Gerdes Graham G Giles Rosalind Glasspool Gord Glendon Andrew K Godwin Marc T Goodman Martin Gore Mark H Greene Mervi Grip Jacek Gronwald Daphne Gschwantler Kaulich Pascal Guénel Starr R Guzman Lothar Haeberle Christopher A Haiman Per Hall Sandra L Halverson Ute Hamann Thomas V O Hansen Philipp Harter Jaana M Hartikainen Sue Healey Alexander Hein Florian Heitz Brian E Henderson Josef Herzog Michelle A T Hildebrandt Claus K Høgdall Estrid Høgdall Frans B L Hogervorst John L Hopper Keith Humphreys Tomasz Huzarski Evgeny N Imyanitov Claudine Isaacs Anna Jakubowska Ramunas Janavicius Katarzyna Jaworska Allan Jensen Uffe Birk Jensen Nichola Johnson Arja Jukkola-Vuorinen Maria Kabisch Beth Y Karlan Vesa Kataja Noah Kauff Linda E Kelemen Michael J Kerin Lambertus A Kiemeney Susanne K Kjaer Julia A Knight Jacoba P Knol-Bout Irene Konstantopoulou Veli-Matti Kosma Camilla Krakstad Vessela Kristensen Karoline B Kuchenbaecker Jolanta Kupryjanczyk Yael Laitman Diether Lambrechts Sandrina Lambrechts Melissa C Larson Adriana Lasa Pierre Laurent-Puig Conxi Lazaro Nhu D Le Loic Le Marchand Arto Leminen Jenny Lester Douglas A Levine Jingmei Li Dong Liang Annika Lindblom Noralane Lindor Jolanta Lissowska Jirong Long Karen H Lu Jan Lubinski Lene Lundvall Galina Lurie Phuong L Mai Arto Mannermaa Sara Margolin Frederique Mariette Frederik Marme John W M Martens Leon F A G Massuger Christine Maugard Sylvie Mazoyer Lesley McGuffog Valerie McGuire Catriona McLean Iain McNeish Alfons Meindl Florence Menegaux Primitiva Menéndez Janusz Menkiszak Usha Menon Arjen R Mensenkamp Nicola Miller Roger L Milne Francesmary Modugno Marco Montagna Kirsten B Moysich Heiko Müller Anna Marie Mulligan Taru A Muranen Steven A Narod Katherine L Nathanson Roberta B Ness Susan L Neuhausen Heli Nevanlinna Patrick Neven Finn C Nielsen Sune F Nielsen Børge G Nordestgaard Robert L Nussbaum Kunle Odunsi Kenneth Offit Edith Olah Olufunmilayo I Olopade Janet E Olson Sara H Olson Jan C Oosterwijk Irene Orlow Nick Orr Sandra Orsulic Ana Osorio Laura Ottini James Paul Celeste L Pearce Inge Sokilde Pedersen Bernard Peissel Tanja Pejovic Liisa M Pelttari Jo Perkins Jenny Permuth-Wey Paolo Peterlongo Julian Peto Catherine M Phelan Kelly-Anne Phillips Marion Piedmonte Malcolm C Pike Radka Platte Joanna Plisiecka-Halasa Elizabeth M Poole Bruce Poppe Katri Pylkäs Paolo Radice Susan J Ramus Timothy R Rebbeck Malcolm W R Reed Gad Rennert Harvey A Risch Mark Robson Gustavo C Rodriguez Atocha Romero Mary Anne Rossing Joseph H Rothstein Anja Rudolph Ingo Runnebaum Ritu Salani Helga B Salvesen Elinor J Sawyer Joellen M Schildkraut Marjanka K Schmidt Rita K Schmutzler Andreas Schneeweiss Minouk J Schoemaker Michael G Schrauder Fredrick Schumacher Ira Schwaab Giulietta Scuvera Thomas A Sellers Gianluca Severi Caroline M Seynaeve Mitul Shah Martha Shrubsole Nadeem Siddiqui Weiva Sieh Jacques Simard Christian F Singer Olga M Sinilnikova Dominiek Smeets Christof Sohn Maria Soller Honglin Song Penny Soucy Melissa C Southey Christa Stegmaier Dominique Stoppa-Lyonnet Lara Sucheston Anthony Swerdlow Ingvild L Tangen Muy-Kheng Tea Manuel R Teixeira Kathryn L Terry Mary Beth Terry Mads Thomassen Pamela J Thompson Laima Tihomirova Marc Tischkowitz Amanda Ewart Toland Rob A E M Tollenaar Ian Tomlinson Diana Torres Thérèse Truong Helen Tsimiklis Nadine Tung Shelley S Tworoger Jonathan P Tyrer Celine M Vachon Laura J Van 't Veer Anne M van Altena C J Van Asperen David van den Berg Ans M W van den Ouweland Helena C van Doorn Els Van Nieuwenhuysen Elizabeth J van Rensburg Ignace Vergote Senno Verhoef Robert A Vierkant Joseph Vijai Allison F Vitonis Anna von Wachenfeldt Christine Walsh Qin Wang Shan Wang-Gohrke Barbara Wappenschmidt Maren Weischer Jeffrey N Weitzel Caroline Weltens Nicolas Wentzensen Alice S Whittemore Lynne R Wilkens Robert Winqvist Anna H Wu Xifeng Wu Hannah P Yang Daniela Zaffaroni M Pilar Zamora Wei Zheng Argyrios Ziogas Georgia Chenevix-Trench Paul D P Pharoah Matti A Rookus Maartje J Hooning Ellen L Goode

Gynecol Oncol 2016 05 2;141(2):386-401. Epub 2015 May 2.

Department of Health Sciences Research, Division of Epidemiology, Mayo Clinic, Rochester, MN, USA.

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May 2016

Type 1 papillary renal cell carcinoma in a patient with schwannomatosis: Mosaic versus loss of SMARCB1 expression in respectively schwannoma and renal tumor cells.

Genes Chromosomes Cancer 2016 Apr 22;55(4):350-4. Epub 2016 Jan 22.

Department of Pathology, Nijmegen Center for Molecular Life Sciences (NCMLS), Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/gcc.22338DOI Listing
April 2016

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

Authors:
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

Nat Genet 2016 Apr 29;48(4):374-86. Epub 2016 Feb 29.

Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1038/ng.3521DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4938803PMC
April 2016

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers.

Authors:
Ignacio Blanco Karoline Kuchenbaecker Daniel Cuadras Xianshu Wang Daniel Barrowdale Gorka Ruiz de Garibay Pablo Librado Alejandro Sánchez-Gracia Julio Rozas Núria Bonifaci Lesley McGuffog Vernon S Pankratz Abul Islam Francesca Mateo Antoni Berenguer Anna Petit Isabel Català Joan Brunet Lidia Feliubadaló Eva Tornero Javier Benítez Ana Osorio Teresa Ramón y Cajal Heli Nevanlinna Kristiina Aittomäki Banu K Arun Amanda E Toland Beth Y Karlan Christine Walsh Jenny Lester Mark H Greene Phuong L Mai Robert L Nussbaum Irene L Andrulis Susan M Domchek Katherine L Nathanson Timothy R Rebbeck Rosa B Barkardottir Anna Jakubowska Jan Lubinski Katarzyna Durda Katarzyna Jaworska-Bieniek Kathleen Claes Tom Van Maerken Orland Díez Thomas V Hansen Lars Jønson Anne-Marie Gerdes Bent Ejlertsen Miguel de la Hoya Trinidad Caldés Alison M Dunning Clare Oliver Elena Fineberg Margaret Cook Susan Peock Emma McCann Alex Murray Chris Jacobs Gabriella Pichert Fiona Lalloo Carol Chu Huw Dorkins Joan Paterson Kai-Ren Ong Manuel R Teixeira Frans B L Hogervorst Annemarie H van der Hout Caroline Seynaeve Rob B van der Luijt Marjolijn J L Ligtenberg Peter Devilee Juul T Wijnen Matti A Rookus Hanne E J Meijers-Heijboer Marinus J Blok Ans M W van den Ouweland Cora M Aalfs Gustavo C Rodriguez Kelly-Anne A Phillips Marion Piedmonte Stacy R Nerenstone Victoria L Bae-Jump David M O'Malley Elena S Ratner Rita K Schmutzler Barbara Wappenschmidt Kerstin Rhiem Christoph Engel Alfons Meindl Nina Ditsch Norbert Arnold Hansjoerg J Plendl Dieter Niederacher Christian Sutter Shan Wang-Gohrke Doris Steinemann Sabine Preisler-Adams Karin Kast Raymonda Varon-Mateeva Andrea Gehrig Anders Bojesen Inge Sokilde Pedersen Lone Sunde Uffe Birk Jensen Mads Thomassen Torben A Kruse Lenka Foretova Paolo Peterlongo Loris Bernard Bernard Peissel Giulietta Scuvera Siranoush Manoukian Paolo Radice Laura Ottini Marco Montagna Simona Agata Christine Maugard Jacques Simard Penny Soucy Andreas Berger Anneliese Fink-Retter Christian F Singer Christine Rappaport Daphne Geschwantler-Kaulich Muy-Kheng Tea Georg Pfeiler Esther M John Alex Miron Susan L Neuhausen Mary Beth Terry Wendy K Chung Mary B Daly David E Goldgar Ramunas Janavicius Cecilia M Dorfling Elisabeth J van Rensburg Florentia Fostira Irene Konstantopoulou Judy Garber Andrew K Godwin Edith Olah Steven A Narod Gad Rennert Shani Shimon Paluch Yael Laitman Eitan Friedman Annelie Liljegren Johanna Rantala Marie Stenmark-Askmalm Niklas Loman Evgeny N Imyanitov Ute Hamann Amanda B Spurdle Sue Healey Jeffrey N Weitzel Josef Herzog David Margileth Chiara Gorrini Manel Esteller Antonio Gómez Sergi Sayols Enrique Vidal Holger Heyn Dominique Stoppa-Lyonnet Melanie Léoné Laure Barjhoux Marion Fassy-Colcombet Antoine de Pauw Christine Lasset Sandra Fert Ferrer Laurent Castera Pascaline Berthet François Cornelis Yves-Jean Bignon Francesca Damiola Sylvie Mazoyer Olga M Sinilnikova Christopher A Maxwell Joseph Vijai Mark Robson Noah Kauff Marina J Corines Danylko Villano Julie Cunningham Adam Lee Noralane Lindor Conxi Lázaro Douglas F Easton Kenneth Offit Georgia Chenevix-Trench Fergus J Couch Antonis C Antoniou Miguel Angel Pujana

PLoS One 2015 1;10(4):e0120020. Epub 2015 Apr 1.

Breast Cancer and Systems Biology Unit, Catalan Institute of Oncology (ICO), Bellvitge Institute for Biomedical Research (IDIBELL), L'Hospitalet del Llobregat, Catalonia, Spain.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382299PMC
December 2015

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.

Am J Hum Genet 2015 Sep;97(3):378-88

Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4564895PMC
September 2015

Prediction of breast cancer risk based on profiling with common genetic variants.

Authors:
Nasim Mavaddat Paul D P Pharoah Kyriaki Michailidou Jonathan Tyrer Mark N Brook 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 Swerdlow Alan Ashworth Nick Orr Minouk J Schoemaker Jonine Figueroa Stephen J Chanock Louise Brinton Jolanta Lissowska Fergus J Couch Janet E Olson Celine Vachon Vernon S Pankratz Diether Lambrechts Hans Wildiers Chantal Van Ongeval Erik van Limbergen Vessela Kristensen Grethe Grenaker Alnæs Silje Nord Anne-Lise Borresen-Dale Heli Nevanlinna Taru A 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 Marme Andreas Schneeweiss Christof Sohn Amy Trentham-Dietz Polly Newcomb Linda Titus Kathleen M Egan David J Hunter Sara Lindstrom Rulla M Tamimi Peter Kraft Nazneen Rahman Clare Turnbull Anthony Renwick Sheila Seal Jingmei Li Jianjun Liu Keith Humphreys Javier Benitez M Pilar Zamora Jose Ignacio Arias Perez Primitiva Menéndez Anna Jakubowska Jan Lubinski Katarzyna Jaworska-Bieniek Katarzyna Durda Natalia V Bogdanova Natalia N 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 W R Reed Elza Khusnutdinova Marina Bermisheva Darya Prokofyeva Zalina Takhirova Alfons Meindl Rita K Schmutzler Christian Sutter Rongxi Yang Peter Schürmann Michael Bremer Hans Christiansen Tjoung-Won Park-Simon Peter Hillemanns Pascal Guénel Thérèse Truong Florence Menegaux Marie Sanchez Paolo Radice Paolo Peterlongo Siranoush Manoukian Valeria Pensotti John L Hopper Helen Tsimiklis Carmel Apicella Melissa C Southey Hiltrud Brauch Thomas Brüning Yon-Dschun Ko Alice J Sigurdson Michele M Doody Ute Hamann Diana Torres Hans-Ulrich Ulmer Asta Försti Elinor J Sawyer Ian Tomlinson Michael J Kerin Nicola Miller Irene L Andrulis Julia A Knight Gord Glendon Anna Marie Mulligan Georgia Chenevix-Trench Rosemary Balleine Graham G Giles Roger L Milne Catriona McLean Annika Lindblom Sara Margolin Christopher A Haiman Brian E Henderson Fredrick Schumacher Loic Le Marchand Ursula Eilber Shan Wang-Gohrke Maartje J Hooning Antoinette Hollestelle Ans M W van den Ouweland Linetta B Koppert Jane Carpenter Christine Clarke Rodney Scott Arto Mannermaa Vesa Kataja Veli-Matti Kosma Jaana M Hartikainen Hermann Brenner Volker Arndt Christa Stegmaier Aida Karina Dieffenbach Robert Winqvist Katri Pylkäs Arja Jukkola-Vuorinen Mervi Grip Kenneth Offit Joseph Vijai Mark Robson Rohini Rau-Murthy Miriam Dwek Ruth Swann Katherine Annie Perkins Mark S Goldberg France Labrèche Martine Dumont Diana M Eccles William J Tapper Sajjad Rafiq Esther M John Alice S Whittemore Susan Slager Drakoulis Yannoukakos Amanda E Toland Song Yao Wei Zheng Sandra L Halverson Anna González-Neira Guillermo Pita M Rosario Alonso Nuria Álvarez Daniel Herrero Daniel C Tessier Daniel Vincent Francois Bacot Craig Luccarini Caroline Baynes Shahana Ahmed Mel Maranian Catherine S Healey Jacques Simard Per Hall Douglas F Easton Montserrat Garcia-Closas

J Natl Cancer Inst 2015 May 8;107(5). Epub 2015 Apr 8.

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK (NM, PDPP, KM, MKB, QW, JD, RL, JBr, DFE); Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK (PDPP, JT, AMD, MS, CL, CB, SA, MM, CSH, DFE); Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK (MNB, ASw, MJS); Copenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital, Copenhagen, Denmark (SEB, BGN, SFN); Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, Copenhagen, Herlev, Denmark (SEB, BGN, SFN); Faculty of Health and Medical Sciences, Copenhagen University Hospital, Copenhagen, Herlev, Denmark (SEB, BGN); Department of Breast Surgery, Herlev Hospital, Copenhagen University Hospital, Copenhagen, Herlev, Denmark (HF); Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden (KC, HD, ME, KH, PHa); Department of Non-communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, UK (JP, IdSS, FD); Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK (NJ, AA, NO, MGC); Netherlands Cancer Institute, Antoni van Leeuwenhoek hospital, Amsterdam, the Netherlands (MKS, AB, SV, EJR); Division of Breast Cancer Research, Institute of Cancer Research, London, UK (ASw); Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD (JF, SJC, LB, ASi, MD); Department of Cancer Epidemiology and Prevention, M. Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Warsaw, Poland (JLis); Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN (FJC); Department of Health Sciences Research, Mayo Clinic, Rochester, MN (JEO, CV, VSP, SS); Vesalius Research Center, VIB, Leuven, Belgium (DL); Laboratory for Translational Genetics, Department of Oncology, University of

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4754625PMC
May 2015

Identification of novel genetic markers of breast cancer survival.

Authors:
Qi Guo Marjanka K Schmidt Peter Kraft Sander Canisius Constance Chen Sofia Khan Jonathan Tyrer Manjeet K Bolla Qin Wang Joe Dennis Kyriaki Michailidou Michael Lush Siddhartha Kar Jonathan Beesley Alison M Dunning Mitul Shah Kamila Czene Hatef Darabi Mikael Eriksson Diether Lambrechts Caroline Weltens Karin Leunen Stig E Bojesen Børge G Nordestgaard Sune F Nielsen Henrik Flyger Jenny Chang-Claude Anja Rudolph Petra Seibold Dieter Flesch-Janys Carl Blomqvist Kristiina Aittomäki Rainer Fagerholm Taru A Muranen Fergus J Couch Janet E Olson Celine Vachon Irene L Andrulis Julia A Knight Gord Glendon Anna Marie Mulligan Annegien Broeks Frans B Hogervorst Christopher A Haiman Brian E Henderson Fredrick Schumacher Loic Le Marchand John L Hopper Helen Tsimiklis Carmel Apicella Melissa C Southey Angela Cox Simon S Cross Malcolm W R Reed Graham G Giles Roger L Milne Catriona McLean Robert Winqvist Katri Pylkäs Arja Jukkola-Vuorinen Mervi Grip Maartje J Hooning Antoinette Hollestelle John W M Martens Ans M W van den Ouweland Federik Marme Andreas Schneeweiss Rongxi Yang Barbara Burwinkel Jonine Figueroa Stephen J Chanock Jolanta Lissowska Elinor J Sawyer Ian Tomlinson Michael J Kerin Nicola Miller Hermann Brenner Aida Karina Dieffenbach Volker Arndt Bernd Holleczek Arto Mannermaa Vesa Kataja Veli-Matti Kosma Jaana M Hartikainen Jingmei Li Judith S Brand Keith Humphreys Peter Devilee Rob A E M Tollenaar Caroline Seynaeve Paolo Radice Paolo Peterlongo Bernardo Bonanni Paolo Mariani Peter A Fasching Matthias W Beckmann Alexander Hein Arif B Ekici Georgia Chenevix-Trench Rosemary Balleine Kelly-Anne Phillips Javier Benitez M Pilar Zamora Jose Ignacio Arias Perez Primitiva Menéndez Anna Jakubowska Jan Lubinski Katarzyna Jaworska-Bieniek Katarzyna Durda Ute Hamann Maria Kabisch Hans Ulrich Ulmer Thomas Rüdiger Sara Margolin Vessela Kristensen Silje Nord D Gareth Evans Jean E Abraham Helena M Earl Louise Hiller Janet A Dunn Sarah Bowden Christine Berg Daniele Campa W Ryan Diver Susan M Gapstur Mia M Gaudet Susan E Hankinson Robert N Hoover Anika Hüsing Rudolf Kaaks Mitchell J Machiela Walter Willett Myrto Barrdahl Federico Canzian Suet-Feung Chin Carlos Caldas David J Hunter Sara Lindstrom Montserrat García-Closas Per Hall Douglas F Easton Diana M Eccles Nazneen Rahman Heli Nevanlinna Paul D P Pharoah

J Natl Cancer Inst 2015 May 18;107(5). Epub 2015 Apr 18.

Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, UK (QG, JT, AMD, MS, JEA, DFE, PDPP); Netherlands Cancer Institute, Antoni van Leeuwenhoek hospital, Amsterdam, the Netherlands (MKS, SC, AB, FBH); Department of Epidemiology, Harvard School of Public Health, Boston, MA (PK, SH, DJH, SL); Program in Genetic Epidemiology and Statistical Genetics, Department of Epidemiology, Harvard School of Public Health, Boston, MA (PK, CCh, DJH, SL); Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland (SK, RF, TAM, HN); Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK (MKB, QW, JD, KM, ML, SK, DFE, PDPP); Department of Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Australia (JBee, GCT); Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden (KC, HD, ME, JiL, JBr, KH, PH); Laboratory for Translational Genetics, Department of Oncology, University of Leuven, Leuven, Belgium (DL); Vesalius Research Center, VIB, Leuven, Belgium (DL); Oncology Department, University Hospital Gasthuisberg, Leuven, Belgium (CW, KL); Copenhagen General Population Study, Herlev Hospital, Copenhagen, Denmark (SEB, BGN, SFN); Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, Denmark (SEB, BGN, SFN); Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark (SEB, BGN); Department of Breast Surgery, Herlev Hospital, Copenhagen University Hospital, Denmark (HF); Division of Cancer Epidemiology, German Cancer Research Center (Deutsches Krebsforschungszentrum), Heidelberg, Germany (JCC, AR, PS, DC, AHü, RK, MB); Department of Cancer Epidemiology/Clinical Cancer Registry and Institute for Medical Biometrics and Epidemiology, University Clinic Hamburg-Eppendorf, Hamburg, Germany (DFJ); Department of Oncology

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http://dx.doi.org/10.1093/jnci/djv081DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4555642PMC
May 2015

Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk.

Authors:
Wei-Yu Lin Nicola J Camp Maya Ghoussaini Jonathan Beesley Kyriaki Michailidou John L Hopper Carmel Apicella Melissa C Southey Jennifer Stone Marjanka K Schmidt Annegien Broeks Laura J Van't Veer Emiel J Th Rutgers Kenneth Muir Artitaya Lophatananon Sarah Stewart-Brown Pornthep Siriwanarangsan Peter A Fasching Lothar Haeberle Arif B Ekici Matthias W Beckmann Julian Peto Isabel Dos-Santos-Silva Olivia Fletcher Nichola Johnson Manjeet K Bolla Qin Wang Joe Dennis Elinor J Sawyer Timothy Cheng Ian Tomlinson Michael J Kerin Nicola Miller Frederik Marmé Harald M Surowy Barbara Burwinkel Pascal Guénel Thérèse Truong Florence Menegaux Claire Mulot Stig E Bojesen Børge G Nordestgaard Sune F Nielsen Henrik Flyger Javier Benitez M Pilar Zamora Jose Ignacio Arias Perez Primitiva Menéndez Anna González-Neira Guillermo Pita M Rosario Alonso Nuria Alvarez Daniel Herrero Hoda Anton-Culver Hermann Brenner Aida Karina Dieffenbach Volker Arndt Christa Stegmaier Alfons Meindl Peter Lichtner Rita K Schmutzler Bertram Müller-Myhsok Hiltrud Brauch Thomas Brüning Yon-Dschun Ko Daniel C Tessier Daniel Vincent Francois Bacot Heli Nevanlinna Kristiina Aittomäki Carl Blomqvist Sofia Khan Keitaro Matsuo Hidemi Ito Hiroji Iwata Akiyo Horio Natalia V Bogdanova Natalia N Antonenkova Thilo Dörk Annika Lindblom Sara Margolin Arto Mannermaa Vesa Kataja Veli-Matti Kosma Jaana M Hartikainen Anna H Wu Chiu-Chen Tseng David Van Den Berg Daniel O Stram Patrick Neven Els Wauters Hans Wildiers Diether Lambrechts Jenny Chang-Claude Anja Rudolph Petra Seibold Dieter Flesch-Janys Paolo Radice Paolo Peterlongo Siranoush Manoukian Bernardo Bonanni Fergus J Couch Xianshu Wang Celine Vachon Kristen Purrington Graham G Giles Roger L Milne Catriona Mclean Christopher A Haiman Brian E Henderson Fredrick Schumacher Loic Le Marchand Jacques Simard Mark S Goldberg France Labrèche Martine Dumont Soo Hwang Teo Cheng Har Yip Norhashimah Hassan Eranga Nishanthie Vithana Vessela Kristensen Wei Zheng Sandra Deming-Halverson Martha J Shrubsole Jirong Long Robert Winqvist Katri Pylkäs Arja Jukkola-Vuorinen Saila Kauppila Irene L Andrulis Julia A Knight Gord Glendon Sandrine Tchatchou Peter Devilee Robert A E M Tollenaar Caroline Seynaeve Christi J Van Asperen Montserrat García-Closas Jonine Figueroa Jolanta Lissowska Louise Brinton Kamila Czene Hatef Darabi Mikael Eriksson Judith S Brand Maartje J Hooning Antoinette Hollestelle Ans M W Van Den Ouweland Agnes Jager Jingmei Li Jianjun Liu Keith Humphreys Xiao-Ou Shu Wei Lu Yu-Tang Gao Hui Cai Simon S Cross Malcolm W R Reed William Blot Lisa B Signorello Qiuyin Cai Paul D P Pharoah Barbara Perkins Mitul Shah Fiona M Blows Daehee Kang Keun-Young Yoo Dong-Young Noh Mikael Hartman Hui Miao Kee Seng Chia Thomas Choudary Putti Ute Hamann Craig Luccarini Caroline Baynes Shahana Ahmed Mel Maranian Catherine S Healey Anna Jakubowska Jan Lubinski Katarzyna Jaworska-Bieniek Katarzyna Durda Suleeporn Sangrajrang Valerie Gaborieau Paul Brennan James Mckay Susan Slager Amanda E Toland Drakoulis Yannoukakos Chen-Yang Shen Chia-Ni Hsiung Pei-Ei Wu Shian-Ling Ding Alan Ashworth Michael Jones Nick Orr Anthony J Swerdlow Helen Tsimiklis Enes Makalic Daniel F Schmidt Quang M Bui Stephen J Chanock David J Hunter Rebecca Hein Norbert Dahmen Lars Beckmann Kirsimari Aaltonen Taru A Muranen Tuomas Heikkinen Astrid Irwanto Nazneen Rahman Clare A Turnbull Quinten Waisfisz Hanne E J Meijers-Heijboer Muriel A Adank Rob B Van Der Luijt Per Hall Georgia Chenevix-Trench Alison Dunning Douglas F Easton Angela Cox

Hum Mol Genet 2015 Jan 28;24(1):285-98. Epub 2014 Aug 28.

Department of Oncology, University of Sheffield Medical School, Sheffield S10 2RX, UK

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January 2015

A novel mutation in FGFR2.

Am J Med Genet A 2015 Jan 25;167A(1):123-7. Epub 2014 Nov 25.

Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus MC, University Medical Center, Rotterdam, the Netherlands; Department of Bioinformatics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.

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January 2015

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers.

Authors:
Karoline B Kuchenbaecker Susan L Neuhausen Mark Robson Daniel Barrowdale Lesley McGuffog Anna Marie Mulligan Irene L Andrulis Amanda B Spurdle Marjanka K Schmidt Rita K Schmutzler Christoph Engel Barbara Wappenschmidt Heli Nevanlinna Mads Thomassen Melissa Southey Paolo Radice Susan J Ramus Susan M Domchek Katherine L Nathanson Andrew Lee Sue Healey Robert L Nussbaum Timothy R Rebbeck Banu K Arun Paul James Beth Y Karlan Jenny Lester Ilana Cass 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 Linda Steele Thomas v O Hansen Bent Ejlertsen Anne-Marie Gerdes Finn C Nielsen Joe Dennis Julie Cunningham Steven Hart Susan Slager Ana Osorio Javier Benitez Mercedes Duran Jeffrey N Weitzel Isaac Tafur Mary Hander Paolo Peterlongo Siranoush Manoukian Bernard Peissel Gaia Roversi Giulietta Scuvera Bernardo Bonanni Paolo Mariani Sara Volorio Riccardo Dolcetti Liliana Varesco Laura Papi Maria Grazia Tibiletti Giuseppe Giannini Florentia Fostira Irene Konstantopoulou Judy Garber Ute Hamann Alan Donaldson Carole Brewer Claire Foo D Gareth Evans Debra Frost Diana Eccles Fiona Douglas Angela Brady Jackie Cook Marc Tischkowitz Julian Adlard Julian Barwell Kai-ren Ong Lisa Walker Louise Izatt Lucy E Side M John Kennedy Mark T Rogers Mary E Porteous Patrick J Morrison Radka Platte Ros Eeles Rosemarie Davidson Shirley Hodgson Steve Ellis Andrew K Godwin Kerstin Rhiem Alfons Meindl Nina Ditsch Norbert Arnold Hansjoerg Plendl Dieter Niederacher Christian Sutter Doris Steinemann Nadja Bogdanova-Markov Karin Kast Raymonda Varon-Mateeva Shan Wang-Gohrke Andrea Gehrig Birgid Markiefka Bruno Buecher Cédrick Lefol Dominique Stoppa-Lyonnet Etienne Rouleau Fabienne Prieur Francesca Damiola Laure Barjhoux Laurence Faivre Michel Longy Nicolas Sevenet Olga M Sinilnikova Sylvie Mazoyer Valérie Bonadona Virginie Caux-Moncoutier Claudine Isaacs Tom Van Maerken Kathleen Claes Marion Piedmonte Lesley Andrews John Hays Gustavo C Rodriguez Trinidad Caldes Miguel de la Hoya Sofia Khan Frans B L Hogervorst Cora M Aalfs J L de Lange Hanne E J Meijers-Heijboer Annemarie H van der Hout Juul T Wijnen K E P van Roozendaal Arjen R Mensenkamp Ans M W van den Ouweland Carolien H M van Deurzen Rob B van der Luijt Edith Olah Orland Diez Conxi Lazaro Ignacio Blanco Alex Teulé Mireia Menendez Anna Jakubowska Jan Lubinski Cezary Cybulski Jacek Gronwald Katarzyna Jaworska-Bieniek Katarzyna Durda Adalgeir Arason Christine Maugard Penny Soucy Marco Montagna Simona Agata Manuel R Teixeira Curtis Olswold Noralane Lindor Vernon S Pankratz Emily Hallberg Xianshu Wang Csilla I Szabo Joseph Vijai Lauren Jacobs Marina Corines Anne Lincoln Andreas Berger Anneliese Fink-Retter Christian F Singer Christine Rappaport Daphne Gschwantler Kaulich Georg Pfeiler Muy-Kheng Tea Catherine M Phelan Phuong L Mai Mark H Greene Gad Rennert Evgeny N Imyanitov Gord Glendon Amanda Ewart Toland Anders Bojesen Inge Sokilde Pedersen Uffe Birk Jensen Maria A Caligo Eitan Friedman Raanan Berger Yael Laitman Johanna Rantala Brita Arver Niklas Loman Ake Borg Hans Ehrencrona Olufunmilayo I Olopade Jacques Simard Douglas F Easton Georgia Chenevix-Trench Kenneth Offit Fergus J Couch Antonis C Antoniou

Breast Cancer Res 2014 Dec 31;16(6):3416. Epub 2014 Dec 31.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4406179PMC
December 2014

Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium.

Authors:
Roger L Milne Barbara Burwinkel Kyriaki Michailidou Jose-Ignacio Arias-Perez M Pilar Zamora Primitiva Menéndez-Rodríguez David Hardisson Marta Mendiola Anna González-Neira Guillermo Pita M Rosario Alonso Joe Dennis Qin Wang Manjeet K Bolla Anthony Swerdlow Alan Ashworth Nick Orr Minouk Schoemaker Yon-Dschun Ko Hiltrud Brauch Ute Hamann Irene L Andrulis Julia A Knight Gord Glendon Sandrine Tchatchou Keitaro Matsuo Hidemi Ito Hiroji Iwata Kazuo Tajima Jingmei Li Judith S Brand Hermann Brenner Aida Karina Dieffenbach Volker Arndt Christa Stegmaier Diether Lambrechts Gilian Peuteman Marie-Rose Christiaens Ann Smeets Anna Jakubowska Jan Lubinski Katarzyna Jaworska-Bieniek Katazyna Durda Mikael Hartman Miao Hui Wei Yen Lim Ching Wan Chan Federick Marme Rongxi Yang Peter Bugert Annika Lindblom Sara Margolin Montserrat García-Closas Stephen J Chanock Jolanta Lissowska Jonine D Figueroa Stig E Bojesen Børge G Nordestgaard Henrik Flyger Maartje J Hooning Mieke Kriege Ans M W van den Ouweland Linetta B Koppert Olivia Fletcher Nichola Johnson Isabel dos-Santos-Silva Julian Peto Wei Zheng Sandra Deming-Halverson Martha J Shrubsole Jirong Long Jenny Chang-Claude Anja Rudolph Petra Seibold Dieter Flesch-Janys Robert Winqvist Katri Pylkäs Arja Jukkola-Vuorinen Mervi Grip Angela Cox Simon S Cross Malcolm W R Reed Marjanka K Schmidt Annegien Broeks Sten Cornelissen Linde Braaf Daehee Kang Ji-Yeob Choi Sue K Park Dong-Young Noh Jacques Simard Martine Dumont Mark S Goldberg France Labrèche Peter A Fasching Alexander Hein Arif B Ekici Matthias W Beckmann Paolo Radice Paolo Peterlongo Jacopo Azzollini Monica Barile Elinor Sawyer Ian Tomlinson Michael Kerin Nicola Miller John L Hopper Daniel F Schmidt Enes Makalic Melissa C Southey Soo Hwang Teo Cheng Har Yip Kavitta Sivanandan Wan-Ting Tay Chen-Yang Shen Chia-Ni Hsiung Jyh-Cherng Yu Ming-Feng Hou Pascal Guénel Therese Truong Marie Sanchez Claire Mulot William Blot Qiuyin Cai Heli Nevanlinna Taru A Muranen Kristiina Aittomäki Carl Blomqvist Anna H Wu Chiu-Chen Tseng David Van Den Berg Daniel O Stram Natalia Bogdanova Thilo Dörk Kenneth Muir Artitaya Lophatananon Sarah Stewart-Brown Pornthep Siriwanarangsan Arto Mannermaa Vesa Kataja Veli-Matti Kosma Jaana M Hartikainen Xiao-Ou Shu Wei Lu Yu-Tang Gao Ben Zhang Fergus J Couch Amanda E Toland Drakoulis Yannoukakos Suleeporn Sangrajrang James McKay Xianshu Wang Janet E Olson Celine Vachon Kristen Purrington Gianluca Severi Laura Baglietto Christopher A Haiman Brian E Henderson Fredrick Schumacher Loic Le Marchand Peter Devilee Robert A E M Tollenaar Caroline Seynaeve Kamila Czene Mikael Eriksson Keith Humphreys Hatef Darabi Shahana Ahmed Mitul Shah Paul D P Pharoah Per Hall Graham G Giles Javier Benítez Alison M Dunning Georgia Chenevix-Trench Douglas F Easton

Hum Mol Genet 2014 Nov 18;23(22):6096-111. Epub 2014 Jun 18.

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4204770PMC
November 2014

Genetic predisposition to in situ and invasive lobular carcinoma of the breast.

Authors:
Elinor Sawyer Rebecca Roylance Christos Petridis Mark N Brook Salpie Nowinski Efterpi Papouli Olivia Fletcher Sarah Pinder Andrew Hanby Kelly Kohut Patricia Gorman Michele Caneppele Julian Peto Isabel Dos Santos Silva Nichola Johnson Ruth Swann Miriam Dwek Katherine-Anne Perkins Cheryl Gillett Richard Houlston Gillian Ross Paolo De Ieso Melissa C Southey John L Hopper Elena Provenzano Carmel Apicella Jelle Wesseling Sten Cornelissen Renske Keeman Peter A Fasching Sebastian M Jud Arif B Ekici Matthias W Beckmann Michael J Kerin Federick Marme Andreas Schneeweiss Christof Sohn Barbara Burwinkel Pascal Guénel Therese Truong Pierre Laurent-Puig Pierre Kerbrat Stig E Bojesen Børge G Nordestgaard Sune F Nielsen Henrik Flyger Roger L Milne Jose Ignacio Arias Perez Primitiva Menéndez Javier Benitez Hermann Brenner Aida Karina Dieffenbach Volker Arndt Christa Stegmaier Alfons Meindl Peter Lichtner Rita K Schmutzler Magdalena Lochmann Hiltrud Brauch Hans-Peter Fischer Yon-Dschun Ko Heli Nevanlinna Taru A Muranen Kristiina Aittomäki Carl Blomqvist Natalia V Bogdanova Thilo Dörk Annika Lindblom Sara Margolin Arto Mannermaa Vesa Kataja Veli-Matti Kosma Jaana M Hartikainen Georgia Chenevix-Trench Kconfab Investigators Diether Lambrechts Caroline Weltens Erik Van Limbergen Sigrid Hatse Jenny Chang-Claude Anja Rudolph Petra Seibold Dieter Flesch-Janys Paolo Radice Paolo Peterlongo Bernardo Bonanni Sara Volorio Graham G Giles Gianluca Severi Laura Baglietto Catriona A McLean Christopher A Haiman Brian E Henderson Fredrick Schumacher Loic Le Marchand Jacques Simard Mark S Goldberg France Labrèche Martine Dumont Vessela Kristensen Robert Winqvist Katri Pylkäs Arja Jukkola-Vuorinen Saila Kauppila Irene L Andrulis Julia A Knight Gord Glendon Anna Marie Mulligan Peter Devillee Rob A E M Tollenaar Caroline M Seynaeve Mieke Kriege Jonine Figueroa Stephen J Chanock Mark E Sherman Maartje J Hooning Antoinette Hollestelle Ans M W van den Ouweland Carolien H M van Deurzen Jingmei Li Kamila Czene Keith Humphreys Angela Cox Simon S Cross Malcolm W R Reed Mitul Shah Anna Jakubowska Jan Lubinski Katarzyna Jaworska-Bieniek Katarzyna Durda Anthony Swerdlow Alan Ashworth Nicholas Orr Minouk Schoemaker Fergus J Couch Emily Hallberg Anna González-Neira Guillermo Pita M Rosario Alonso Daniel C Tessier Daniel Vincent Francois Bacot Manjeet K Bolla Qin Wang Joe Dennis Kyriaki Michailidou Alison M Dunning Per Hall Doug Easton Paul Pharoah Marjanka K Schmidt Ian Tomlinson Montserrat Garcia-Closas

PLoS Genet 2014 Apr 17;10(4):e1004285. Epub 2014 Apr 17.

Division of Genetics and Epidemiology, Institute of Cancer Research, London, United Kingdom; Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, United Kingdom.

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April 2014

Clinical utility gene card for: tuberous sclerosis complex (TSC1, TSC2).

Eur J Hum Genet 2014 Feb 12;22(2). Epub 2013 Jun 12.

Department Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2013.129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3895647PMC
February 2014

Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1.

Authors:
Kerstin B Meyer Martin O'Reilly Kyriaki Michailidou Saskia Carlebur Stacey L Edwards Juliet D French Radhika Prathalingham Joe Dennis Manjeet K Bolla Qin Wang Ines de Santiago John L Hopper Helen Tsimiklis Carmel Apicella Melissa C Southey Marjanka K Schmidt Annegien Broeks Laura J Van 't Veer Frans B Hogervorst Kenneth Muir Artitaya Lophatananon Sarah Stewart-Brown Pornthep Siriwanarangsan Peter A Fasching Michael P Lux Arif B Ekici Matthias W Beckmann Julian Peto Isabel Dos Santos Silva Olivia Fletcher Nichola Johnson Elinor J Sawyer Ian Tomlinson Michael J Kerin Nicola Miller Federick Marme Andreas Schneeweiss Christof Sohn Barbara Burwinkel Pascal Guénel Thérèse Truong Pierre Laurent-Puig Florence Menegaux Stig E Bojesen Børge G Nordestgaard Sune F Nielsen Henrik Flyger Roger L Milne M Pilar Zamora Jose I Arias Javier Benitez Susan Neuhausen Hoda Anton-Culver Argyrios Ziogas Christina C Dur Hermann Brenner Heiko Müller Volker Arndt Christa Stegmaier Alfons Meindl Rita K Schmutzler Christoph Engel Nina Ditsch Hiltrud Brauch Thomas Brüning Yon-Dschun Ko Heli Nevanlinna Taru A Muranen Kristiina Aittomäki Carl Blomqvist Keitaro Matsuo Hidemi Ito Hiroji Iwata Yasushi Yatabe Thilo Dörk Sonja Helbig Natalia V Bogdanova Annika Lindblom Sara Margolin Arto Mannermaa Vesa Kataja Veli-Matti Kosma Jaana M Hartikainen Georgia Chenevix-Trench Anna H Wu Chiu-Chen Tseng David Van Den Berg Daniel O Stram Diether Lambrechts Bernard Thienpont Marie-Rose Christiaens Ann Smeets Jenny Chang-Claude Anja Rudolph Petra Seibold Dieter Flesch-Janys Paolo Radice Paolo Peterlongo Bernardo Bonanni Loris Bernard Fergus J Couch Janet E Olson Xianshu Wang Kristen Purrington Graham G Giles Gianluca Severi Laura Baglietto Catriona McLean Christopher A Haiman Brian E Henderson Fredrick Schumacher Loic Le Marchand Jacques Simard Mark S Goldberg France Labrèche Martine Dumont Soo-Hwang Teo Cheng-Har Yip Sze-Yee Phuah Vessela Kristensen Grethe Grenaker Alnæs Anne-Lise Børresen-Dale Wei Zheng Sandra Deming-Halverson Martha Shrubsole Jirong Long Robert Winqvist Katri Pylkäs Arja Jukkola-Vuorinen Saila Kauppila Irene L Andrulis Julia A Knight Gord Glendon Sandrine Tchatchou Peter Devilee Robert A E M Tollenaar Caroline M Seynaeve Montserrat García-Closas Jonine Figueroa Stephen J Chanock Jolanta Lissowska Kamila Czene Hartef Darabi Kimael Eriksson Maartje J Hooning John W M Martens Ans M W van den Ouweland Carolien H M van Deurzen Per Hall Jingmei Li Jianjun Liu Keith Humphreys Xiao-Ou Shu Wei Lu Yu-Tang Gao Hui Cai Angela Cox Malcolm W R Reed William Blot Lisa B Signorello Qiuyin Cai Paul D P Pharoah Maya Ghoussaini Patricia Harrington Jonathan Tyrer Daehee Kang Ji-Yeob Choi Sue K Park Dong-Young Noh Mikael Hartman Miao Hui Wei-Yen Lim Shaik A Buhari Ute Hamann Asta Försti Thomas Rüdiger Hans-Ulrich Ulmer Anna Jakubowska Jan Lubinski Katarzyna Jaworska Katarzyna Durda Suleeporn Sangrajrang Valerie Gaborieau Paul Brennan James McKay Celine Vachon Susan Slager Florentia Fostira Robert Pilarski Chen-Yang Shen Chia-Ni Hsiung Pei-Ei Wu Ming-Feng Hou Anthony Swerdlow Alan Ashworth Nick Orr Minouk J Schoemaker Bruce A J Ponder Alison M Dunning Douglas F Easton

Am J Hum Genet 2013 Dec 27;93(6):1046-60. Epub 2013 Nov 27.

CRUK Cambridge Institute and Department of Oncology, University of Cambridge, Li Ka Shing Centre, Robinson Way, Cambridge CB2 0RE, UK. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3852923PMC
December 2013

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk.

Authors:
Mia M Gaudet Karoline B Kuchenbaecker Joseph Vijai Robert J Klein Tomas Kirchhoff Lesley McGuffog Daniel Barrowdale Alison M Dunning Andrew Lee Joe Dennis Sue Healey Ed Dicks Penny Soucy Olga M Sinilnikova Vernon S Pankratz Xianshu Wang Ronald C Eldridge Daniel C Tessier Daniel Vincent Francois Bacot Frans B L Hogervorst Susan Peock Dominique Stoppa-Lyonnet Paolo Peterlongo Rita K Schmutzler Katherine L Nathanson Marion Piedmonte Christian F Singer Mads Thomassen Thomas v O Hansen Susan L Neuhausen Ignacio Blanco Mark H Greene Judith Garber Jeffrey N Weitzel Irene L Andrulis David E Goldgar Emma D'Andrea Trinidad Caldes Heli Nevanlinna Ana Osorio Elizabeth J van Rensburg Adalgeir Arason Gad Rennert Ans M W van den Ouweland Annemarie H van der Hout Carolien M Kets Cora M Aalfs Juul T Wijnen Margreet G E M Ausems Debra Frost Steve Ellis Elena Fineberg Radka Platte D Gareth Evans Chris Jacobs Julian Adlard Marc Tischkowitz Mary E Porteous Francesca Damiola Lisa Golmard Laure Barjhoux Michel Longy Muriel Belotti Sandra Fert Ferrer Sylvie Mazoyer Amanda B Spurdle Siranoush Manoukian Monica Barile Maurizio Genuardi Norbert Arnold Alfons Meindl Christian Sutter Barbara Wappenschmidt Susan M Domchek Georg Pfeiler Eitan Friedman Uffe Birk Jensen Mark Robson Sohela Shah Conxi Lazaro Phuong L Mai Javier Benitez Melissa C Southey Marjanka K Schmidt Peter A Fasching Julian Peto Manjeet K Humphreys Qin Wang Kyriaki Michailidou Elinor J Sawyer Barbara Burwinkel Pascal Guénel Stig E Bojesen Roger L Milne Hermann Brenner Magdalena Lochmann Kristiina Aittomäki Thilo Dörk Sara Margolin Arto Mannermaa Diether Lambrechts Jenny Chang-Claude Paolo Radice Graham G Giles Christopher A Haiman Robert Winqvist Peter Devillee Montserrat García-Closas Nils Schoof Maartje J Hooning Angela Cox Paul D P Pharoah Anna Jakubowska Nick Orr Anna González-Neira Guillermo Pita M Rosario Alonso Per Hall Fergus J Couch Jacques Simard David Altshuler Douglas F Easton Georgia Chenevix-Trench Antonis C Antoniou Kenneth Offit

PLoS Genet 2013 27;9(3):e1003173. Epub 2013 Mar 27.

Epidemiology Research Program, American Cancer Society, Atlanta, Georgia, USA.

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June 2013

Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

Authors:
Kyriaki Michailidou Per Hall Anna Gonzalez-Neira Maya Ghoussaini Joe Dennis 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 Gibson Isabel Dos Santos Silva Heli Nevanlinna Taru A Muranen Kristiina Aittomäki Carl Blomqvist Kamila Czene Astrid Irwanto Jianjun Liu Quinten Waisfisz Hanne Meijers-Heijboer Muriel Adank Rob B van der Luijt Rebecca Hein Norbert 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 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 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 Florence Menegaux Frederik Marme 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 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 Swerdlow Alan Ashworth Nick Orr Michael Jones Jonine Figueroa Jolanta Lissowska Louise Brinton Mark S Goldberg France Labrèche 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 Seynaeve Christi J van Asperen Anna Jakubowska Jan Lubinski Katarzyna Jaworska Katarzyna Durda Arto Mannermaa Vesa Kataja Veli-Matti Kosma Jaana M Hartikainen Natalia V Bogdanova Natalia N Antonenkova Thilo Dörk Vessela N Kristensen Hoda Anton-Culver Susan 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 Jen-Hwei 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 J Blot Lisa B Signorello Qiuyin Cai Wei Zheng Sandra Deming-Halverson Martha Shrubsole Jirong Long Jacques Simard Montse Garcia-Closas Paul D P Pharoah Georgia Chenevix-Trench Alison M Dunning Javier Benitez Douglas F Easton

Nat Genet 2013 Apr;45(4):353-61, 361e1-2

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3771688PMC
April 2013

Genome-wide association studies identify four ER negative-specific breast cancer risk loci.

Authors:
Montserrat Garcia-Closas Fergus J Couch Sara Lindstrom Kyriaki Michailidou Marjanka K Schmidt Mark N Brook Nick Orr Suhn Kyong Rhie Elio Riboli Heather S Feigelson Loic 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 Arto Mannermaa Ute Hamann Alfons Meindl Annika Lindblom Wei Zheng Peter Devillee Mark S Goldberg Jan Lubinski Vessela Kristensen Anthony Swerdlow Hoda Anton-Culver Thilo Dörk Kenneth Muir Keitaro Matsuo Anna H Wu Paolo Radice Soo Hwang Teo Xiao-Ou Shu William 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 G Schrauder Arif B Ekici Matthias W Beckmann Isabel Dos Santos Silva Nichola Johnson Helen Warren Ian Tomlinson Michael J Kerin Nicola Miller Federick Marme Andreas Schneeweiss Christof Sohn Therese Truong Pierre Laurent-Puig Pierre Kerbrat Børge G Nordestgaard Sune F Nielsen Henrik Flyger Roger L Milne Jose Ignacio Arias Perez Primitiva Menéndez Heiko Müller Volker Arndt Christa Stegmaier Peter Lichtner Magdalena Lochmann Christina Justenhoven Yon-Dschun Ko Taru A Muranen Kristiina Aittomäki Carl Blomqvist Dario Greco Tuomas Heikkinen Hidemi Ito Hiroji Iwata Yasushi Yatabe Natalia N Antonenkova Sara Margolin Vesa Kataja Veli-Matti Kosma Jaana M Hartikainen Rosemary Balleine Chiu-Chen Tseng David Van Den Berg Daniel O Stram Patrick Neven Anne-Sophie Dieudonné Karin Leunen Anja Rudolph Stefan Nickels Dieter Flesch-Janys Paolo Peterlongo Bernard Peissel Loris Bernard Janet E Olson Xianshu Wang Kristen Stevens Gianluca Severi Laura Baglietto Catriona McLean Gerhard A Coetzee Ye Feng Brian E Henderson Fredrick Schumacher Natalia V Bogdanova France Labrèche Martine Dumont Cheng Har Yip Nur Aishah Mohd Taib Ching-Yu Cheng Martha Shrubsole Jirong Long Katri Pylkäs Arja Jukkola-Vuorinen Saila Kauppila Julia A Knight Gord Glendon Anna Marie Mulligan Robertus A E M Tollenaar Caroline M Seynaeve Mieke Kriege Maartje J Hooning Ans M W van den Ouweland Carolien H M van Deurzen Wei Lu Yu-Tang Gao Hui Cai Sabapathy P Balasubramanian Simon S Cross Malcolm W R Reed Lisa Signorello Qiuyin Cai Mitul Shah Hui Miao Ching Wan Chan Kee Seng Chia Anna Jakubowska Katarzyna Jaworska Katarzyna Durda Chia-Ni Hsiung Pei-Ei Wu Jyh-Cherng Yu Alan Ashworth Michael Jones Daniel C Tessier Anna González-Neira Guillermo Pita M Rosario Alonso Daniel Vincent Francois Bacot Christine B Ambrosone Elisa V Bandera Esther M John Gary K Chen Jennifer J Hu Jorge L Rodriguez-Gil Leslie Bernstein Michael F Press Regina G Ziegler Robert M Millikan Sandra L Deming-Halverson Sarah Nyante Sue A Ingles Quinten Waisfisz Helen Tsimiklis Enes Makalic Daniel Schmidt Minh Bui Lorna Gibson Bertram Müller-Myhsok Rita K Schmutzler Rebecca Hein Norbert Dahmen Lars Beckmann Kirsimari Aaltonen Kamila Czene Astrid Irwanto Jianjun Liu Clare Turnbull Nazneen Rahman Hanne Meijers-Heijboer Andre G Uitterlinden Fernando Rivadeneira Curtis Olswold Susan Slager Robert Pilarski Foluso Ademuyiwa Irene Konstantopoulou Nicholas G Martin Grant W Montgomery Dennis J Slamon Claudia Rauh Michael P Lux Sebastian M Jud Thomas Bruning Joellen Weaver Priyanka Sharma Harsh Pathak Will Tapper Sue Gerty Lorraine Durcan Dimitrios Trichopoulos Rosario Tumino Petra H Peeters Rudolf Kaaks Daniele Campa Federico Canzian Elisabete Weiderpass Mattias Johansson Kay-Tee Khaw Ruth Travis Françoise Clavel-Chapelon Laurence N Kolonel Constance Chen Andy Beck Susan E Hankinson Christine D Berg Robert N Hoover Jolanta Lissowska Jonine D Figueroa Daniel I Chasman Mia M Gaudet W Ryan Diver Walter C Willett David J Hunter Jacques Simard Javier Benitez Alison M Dunning Mark E Sherman Georgia Chenevix-Trench Stephen J Chanock Per Hall Paul D P Pharoah Celine Vachon Douglas F Easton Christopher A Haiman Peter Kraft

Nat Genet 2013 Apr;45(4):392-8, 398e1-2

1] Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, UK. [2] Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK. [3].

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3771695PMC
April 2013

Patient with a neurofibromatosis type 1 mutation but a clinical diagnosis of Noonan syndrome.

Clin Dysmorphol 2012 Oct;21(4):212-4

Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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October 2012

Complete FXN deletion in a patient with Friedreich's ataxia.

Genet Test Mol Biomarkers 2012 Sep 12;16(9):1015-8. Epub 2012 Jun 12.

Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.

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September 2012

Genome-wide association analysis identifies three new breast cancer susceptibility loci.

Authors:
Maya Ghoussaini Olivia Fletcher Kyriaki Michailidou Clare Turnbull Marjanka K Schmidt Ed Dicks Joe Dennis Qin Wang Manjeet K Humphreys Craig Luccarini Caroline Baynes Don Conroy Melanie Maranian Shahana Ahmed Kristy Driver Nichola Johnson Nicholas Orr Isabel dos Santos Silva Quinten Waisfisz Hanne Meijers-Heijboer Andre G Uitterlinden Fernando Rivadeneira Per Hall Kamila Czene Astrid Irwanto Jianjun Liu Heli Nevanlinna Kristiina Aittomäki Carl Blomqvist Alfons Meindl Rita K Schmutzler Bertram Müller-Myhsok Peter Lichtner Jenny Chang-Claude Rebecca Hein Stefan Nickels Dieter Flesch-Janys Helen Tsimiklis Enes Makalic Daniel Schmidt Minh Bui John L Hopper Carmel Apicella Daniel J Park Melissa Southey David J Hunter Stephen J Chanock Annegien Broeks Senno Verhoef Frans B L Hogervorst Peter A Fasching Michael P Lux Matthias W Beckmann Arif B Ekici Elinor Sawyer Ian Tomlinson Michael Kerin Frederik Marme Andreas Schneeweiss Christof Sohn Barbara Burwinkel Pascal Guénel Thérèse Truong Emilie Cordina-Duverger Florence Menegaux Stig E Bojesen Børge G Nordestgaard Sune F Nielsen Henrik Flyger Roger L Milne M Rosario Alonso Anna González-Neira Javier Benítez Hoda Anton-Culver Argyrios Ziogas Leslie Bernstein Christina Clarke Dur Hermann Brenner Heiko Müller Volker Arndt Christa Stegmaier Christina Justenhoven Hiltrud Brauch Thomas Brüning Shan Wang-Gohrke Ursula Eilber Thilo Dörk Peter Schürmann Michael Bremer Peter Hillemanns Natalia V Bogdanova Natalia N Antonenkova Yuri I Rogov Johann H Karstens Marina Bermisheva Darya Prokofieva Elza Khusnutdinova Annika Lindblom Sara Margolin Arto Mannermaa Vesa Kataja Veli-Matti Kosma Jaana M Hartikainen Diether Lambrechts Betul T Yesilyurt Giuseppe Floris Karin Leunen Siranoush Manoukian Bernardo Bonanni Stefano Fortuzzi Paolo Peterlongo Fergus J Couch Xianshu Wang Kristen Stevens Adam Lee Graham G Giles Laura Baglietto Gianluca Severi Catriona McLean Grethe Grenaker Alnaes Vessela Kristensen Anne-Lise Børrensen-Dale Esther M John Alexander Miron Robert Winqvist Katri Pylkäs Arja Jukkola-Vuorinen Saila Kauppila Irene L Andrulis Gord Glendon Anna Marie Mulligan Peter Devilee Christie J van Asperen Rob A E M Tollenaar Caroline Seynaeve Jonine D Figueroa Montserrat Garcia-Closas Louise Brinton Jolanta Lissowska Maartje J Hooning Antoinette Hollestelle Rogier A Oldenburg Ans M W van den Ouweland Angela Cox Malcolm W R Reed Mitul Shah Ania Jakubowska Jan Lubinski Katarzyna Jaworska Katarzyna Durda Michael Jones Minouk Schoemaker Alan Ashworth Anthony Swerdlow Jonathan Beesley Xiaoqing Chen Kenneth R Muir Artitaya Lophatananon Suthee Rattanamongkongul Arkom Chaiwerawattana Daehee Kang Keun-Young Yoo Dong-Young Noh Chen-Yang Shen Jyh-Cherng Yu Pei-Ei Wu Chia-Ni Hsiung Annie Perkins Ruth Swann Louiza Velentzis Diana M Eccles Will J Tapper Susan M Gerty Nikki J Graham Bruce A J Ponder Georgia Chenevix-Trench Paul D P Pharoah Mark Lathrop Alison M Dunning Nazneen Rahman Julian Peto Douglas F Easton

Nat Genet 2012 Jan 22;44(3):312-8. Epub 2012 Jan 22.

Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, UK.

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January 2012

Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium.

Authors:
Jonine D Figueroa Montserrat Garcia-Closas Manjeet Humphreys Radka Platte John L Hopper Melissa C Southey Carmel Apicella Fleur Hammet Marjanka K Schmidt Annegien Broeks Rob A E M Tollenaar Laura J Van't Veer Peter A Fasching Matthias W Beckmann Arif B Ekici Reiner Strick Julian Peto Isabel dos Santos Silva Olivia Fletcher Nichola Johnson Elinor Sawyer Ian Tomlinson Michael Kerin Barbara Burwinkel Federik Marme Andreas Schneeweiss Christof Sohn Stig Bojesen Henrik Flyger Børge G Nordestgaard Javier Benítez Roger L Milne Jose Ignacio Arias M Pilar Zamora Hermann Brenner Heiko Müller Volker Arndt Nazneen Rahman Clare Turnbull Sheila Seal Anthony Renwick Hiltrud Brauch Christina Justenhoven Thomas Brüning Jenny Chang-Claude Rebecca Hein Shan Wang-Gohrke Thilo Dörk Peter Schürmann Michael Bremer Peter Hillemanns Heli Nevanlinna Tuomas Heikkinen Kristiina Aittomäki Carl Blomqvist Natalia Bogdanova Natalia Antonenkova Yuri I Rogov Johann Hinrich Karstens Marina Bermisheva Darya Prokofieva Shamil Hanafievich Gantcev Elza Khusnutdinova Annika Lindblom Sara Margolin Georgia Chenevix-Trench Jonathan Beesley Xiaoqing Chen Arto Mannermaa Veli-Matti Kosma Ylermi Soini Vesa Kataja Diether Lambrechts Betül T Yesilyurt Marie-Rose Chrisiaens Stephanie Peeters Paolo Radice Paolo Peterlongo Siranoush Manoukian Monica Barile Fergus Couch Adam M Lee Robert Diasio Xianshu Wang Graham G Giles Gianluca Severi Laura Baglietto Catriona Maclean Ken Offit Mark Robson Vijai Joseph Mia Gaudet Esther M John Robert Winqvist Katri Pylkäs Arja Jukkola-Vuorinen Mervi Grip Irene Andrulis Julia A Knight Anna Marie Mulligan Frances P O'Malley Louise A Brinton Mark E Sherman Jolanta Lissowska Stephen J Chanock Maartje Hooning John W M Martens Ans M W van den Ouweland J Margriet Collée Per Hall Kamila Czene Angela Cox Ian W Brock Malcolm W R Reed Simon S Cross Paul Pharoah Alison M Dunning Daehee Kang Keun-Young Yoo Dong-Young Noh Sei-Hyun Ahn Anna Jakubowska Jan Lubinski Katarzyna Jaworska Katarzyna Durda Suleeporn Sangrajrang Valerie Gaborieau Paul Brennan James McKay Chen-Yang Shen Shian-ling Ding Huan-Ming Hsu Jyh-Cherng Yu Hoda Anton-Culver Argyrios Ziogas Alan Ashworth Anthony Swerdlow Michael Jones Nick Orr Amy Trentham-Dietz Kathleen Egan Polly Newcomb Linda Titus-Ernstoff Doug Easton Amanda B Spurdle

Hum Mol Genet 2011 Dec 18;20(23):4693-706. Epub 2011 Aug 18.

Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.

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December 2011

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers.

Authors:
David G Cox Jacques Simard Daniel Sinnett Yosr Hamdi Penny Soucy Manon Ouimet Laure Barjhoux Carole Verny-Pierre Lesley McGuffog Sue Healey Csilla Szabo Mark H Greene Phuong L Mai Irene L Andrulis Mads Thomassen Anne-Marie Gerdes Maria A Caligo Eitan Friedman Yael Laitman Bella Kaufman Shani S Paluch Åke Borg Per Karlsson Marie Stenmark Askmalm Gisela Barbany Bustinza Katherine L Nathanson Susan M Domchek Timothy R Rebbeck Javier Benítez Ute Hamann Matti A Rookus Ans M W van den Ouweland Margreet G E M Ausems Cora M Aalfs Christi J van Asperen Peter Devilee Hans J J P Gille Susan Peock Debra Frost D Gareth Evans Ros Eeles Louise Izatt Julian Adlard Joan Paterson Jacqueline Eason Andrew K Godwin Marie-Alice Remon Virginie Moncoutier Marion Gauthier-Villars Christine Lasset Sophie Giraud Agnès Hardouin Pascaline Berthet Hagay Sobol François Eisinger Brigitte Bressac de Paillerets Olivier Caron Capucine Delnatte David Goldgar Alex Miron Hilmi Ozcelik Saundra Buys Melissa C Southey Mary Beth Terry Christian F Singer Anne-Catharina Dressler Muy-Kheng Tea Thomas V O Hansen Oskar Johannsson Marion Piedmonte Gustavo C Rodriguez Jack B Basil Stephanie Blank Amanda E Toland Marco Montagna Claudine Isaacs Ignacio Blanco Simon A Gayther Kirsten B Moysich Rita K Schmutzler Barbara Wappenschmidt Christoph Engel Alfons Meindl Nina Ditsch Norbert Arnold Dieter Niederacher Christian Sutter Dorothea Gadzicki Britta Fiebig Trinidad Caldes Rachel Laframboise Heli Nevanlinna Xiaoqing Chen Jonathan Beesley Amanda B Spurdle Susan L Neuhausen Yuan C Ding Fergus J Couch Xianshu Wang Paolo Peterlongo Siranoush Manoukian Loris Bernard Paolo Radice Douglas F Easton Georgia Chenevix-Trench Antonis C Antoniou Dominique Stoppa-Lyonnet Sylvie Mazoyer Olga M Sinilnikova

Hum Mol Genet 2011 Dec 2;20(23):4732-47. Epub 2011 Sep 2.

INSERM U1052, CNRS UMR5286, Université Lyon 1, Cancer Research Center of Lyon, Lyon, France.

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December 2011

Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies.

Authors:
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J Natl Cancer Inst 2011 Feb 29;103(3):250-63. Epub 2010 Dec 29.

Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Sciences, Rockville, MD 20852, USA.

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February 2011

Diagnosis of alpha-1-antitrypsin deficiency in bleeding disorder-related neonatal death.

Eur J Pediatr 2011 Jan 2;170(1):103-6. Epub 2010 Sep 2.

Department of Pathology, Radboud University Nijmegen Medical Centre, 824, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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January 2011

Fanconi anemia gene mutations are not involved in sporadic Wilms tumor.

Pediatr Blood Cancer 2010 Oct;55(4):742-4

Section Oncogenetics, Department of Clinical Genetics, VU Medical Center, Amsterdam, The Netherlands.

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October 2010

Deletion of exons 1a-2 of BRCA1: a rather frequent pathogenic abnormality.

Genet Test Mol Biomarkers 2009 Jun;13(3):399-406

Department of Clinical Genetics, Josephine Nefkens Institute, Erasmus Medical Center, Rotterdam, The Netherlands.

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June 2009

Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2.

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Nat Genet 2009 May 29;41(5):585-90. Epub 2009 Mar 29.

Department of Oncology, University of Cambridge, UK.

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May 2009

Clinicopathological and immunohistochemical findings in an autopsy case of tuberous sclerosis complex.

Neuropathology 2008 Dec 11;28(6):577-90. Epub 2008 Apr 11.

Department of (Neuro)Pathology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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December 2008

Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers.

Am J Hum Genet 2008 Apr 20;82(4):937-48. Epub 2008 Mar 20.

Cancer Research UK, Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, UK.

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April 2008

Phosphorylation and binding partner analysis of the TSC1-TSC2 complex.

Biochem Biophys Res Commun 2005 Aug;333(3):818-26

Department of Clinical Genetics, Erasmus Medisch Centrum, Dr. Molewaterplein 50, 3015 GE Rotterdam, The Netherlands.

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August 2005

Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis.

Hum Genet 2004 Aug 7;115(3):200-7. Epub 2004 Jul 7.

NDCLS, Weatherall Institute of Molecular Medicine, University of Oxford, The John Radcliffe, Headington, Oxford, UK.

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August 2004

Androgen pathway dysregulation in BRCA1-mutated breast tumors.

Breast Cancer Res Treat 2003 May;79(1):121-7

Department of Medical Oncology, Josephine Nefkens Institute, Erasmus MC, Rotterdam, The Netherlands.

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May 2003

Identification and characterization of the interaction between tuberin and 14-3-3zeta.

J Biol Chem 2002 Oct 9;277(42):39417-24. Epub 2002 Aug 9.

Department of Clinical Genetics, Erasmus Medisch Centrum, Dr. Molewaterplein 50, 3015 GE Rotterdam, The Netherlands.

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October 2002

FGFs, their receptors, and human limb malformations: clinical and molecular correlations.

Am J Med Genet 2002 Oct;112(3):266-78

Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom.

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October 2002