Steven N Hart

Steven N Hart

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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

Classification of Melanocytic Lesions in Selected and Whole-Slide Images via Convolutional Neural Networks.

J Pathol Inform 2019 20;10. Epub 2019 Feb 20.

Department of Laboratory Medicine and Pathology, Mayo College of Medicine, Rochester, Minnesota, USA.

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http://dx.doi.org/10.4103/jpi.jpi_32_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6415523PMC
February 2019

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.

Authors:
Nasim Mavaddat Kyriaki Michailidou Joe Dennis Michael Lush Laura Fachal Andrew Lee Jonathan P Tyrer Ting-Huei Chen Qin Wang Manjeet K Bolla Xin Yang Muriel A Adank Thomas Ahearn Kristiina Aittomäki Jamie Allen Irene L Andrulis Hoda Anton-Culver Natalia N Antonenkova Volker Arndt Kristan J Aronson Paul L Auer Päivi Auvinen Myrto Barrdahl Laura E Beane Freeman 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 Hiltrud Brauch Michael Bremer Hermann Brenner Adam Brentnall Ian W Brock Angela Brooks-Wilson Sara Y Brucker Thomas Brüning Barbara Burwinkel Daniele Campa Brian D Carter Jose E Castelao Stephen J Chanock Rowan Chlebowski Hans Christiansen Christine L Clarke J Margriet Collée Emilie Cordina-Duverger Sten Cornelissen Fergus J Couch Angela Cox Simon S Cross Kamila Czene Mary B Daly Peter Devilee Thilo Dörk Isabel Dos-Santos-Silva Martine Dumont Lorraine Durcan Miriam Dwek Diana M Eccles Arif B Ekici A Heather Eliassen Carolina Ellberg Christoph Engel Mikael Eriksson D Gareth Evans Peter A Fasching Jonine Figueroa Olivia Fletcher Henrik Flyger Asta Försti Lin Fritschi Marike Gabrielson Manuela Gago-Dominguez Susan M Gapstur José A García-Sáenz Mia M Gaudet Vassilios Georgoulias Graham G Giles Irina R Gilyazova 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 Susan E Hankinson Elaine F Harkness Steven N Hart Wei He Alexander Hein Jane Heyworth Peter Hillemanns Antoinette Hollestelle Maartje J Hooning Robert N Hoover John L Hopper Anthony Howell Guanmengqian Huang Keith Humphreys David J Hunter Milena Jakimovska Anna Jakubowska Wolfgang Janni Esther M John Nichola Johnson Michael E Jones Arja Jukkola-Vuorinen Audrey Jung Rudolf Kaaks Katarzyna Kaczmarek Vesa Kataja Renske Keeman Michael J Kerin Elza Khusnutdinova Johanna I Kiiski Julia A Knight Yon-Dschun Ko Veli-Matti Kosma Stella Koutros Vessela N Kristensen Ute Krüger Tabea Kühl Diether Lambrechts Loic Le Marchand Eunjung Lee Flavio Lejbkowicz Jenna Lilyquist Annika Lindblom Sara Lindström Jolanta Lissowska Wing-Yee Lo Sibylle Loibl Jirong Long Jan Lubiński Michael P Lux Robert J MacInnis Tom Maishman Enes Makalic Ivana Maleva Kostovska Arto Mannermaa Siranoush Manoukian Sara Margolin John W M Martens Maria Elena Martinez Dimitrios Mavroudis Catriona McLean Alfons Meindl Usha Menon Pooja Middha Nicola Miller Fernando Moreno Anna Marie Mulligan Claire Mulot Victor M Muñoz-Garzon Susan L Neuhausen Heli Nevanlinna Patrick Neven William G Newman Sune F Nielsen Børge G Nordestgaard Aaron Norman Kenneth Offit Janet E Olson Håkan Olsson Nick Orr V Shane Pankratz Tjoung-Won Park-Simon Jose I A Perez Clara Pérez-Barrios Paolo Peterlongo Julian Peto Mila Pinchev Dijana Plaseska-Karanfilska Eric C Polley Ross Prentice Nadege Presneau Darya Prokofyeva Kristen Purrington Katri Pylkäs Brigitte Rack Paolo Radice Rohini Rau-Murthy Gad Rennert Hedy S Rennert Valerie Rhenius Mark Robson Atocha Romero Kathryn J Ruddy Matthias Ruebner Emmanouil Saloustros Dale P Sandler Elinor J Sawyer Daniel F Schmidt Rita K Schmutzler Andreas Schneeweiss Minouk J Schoemaker Fredrick Schumacher Peter Schürmann Lukas Schwentner Christopher Scott Rodney J Scott Caroline Seynaeve Mitul Shah Mark E Sherman Martha J Shrubsole Xiao-Ou Shu Susan Slager Ann Smeets Christof Sohn Penny Soucy Melissa C Southey John J Spinelli Christa Stegmaier Jennifer Stone Anthony J Swerdlow Rulla M Tamimi William J Tapper Jack A Taylor Mary Beth Terry Kathrin Thöne Rob A E M Tollenaar Ian Tomlinson Thérèse Truong Maria Tzardi Hans-Ulrich Ulmer Michael Untch Celine M Vachon Elke M van Veen Joseph Vijai Clarice R Weinberg Camilla Wendt Alice S Whittemore Hans Wildiers Walter Willett Robert Winqvist Alicja Wolk Xiaohong R Yang Drakoulis Yannoukakos Yan Zhang Wei Zheng Argyrios Ziogas Alison M Dunning Deborah J Thompson Georgia Chenevix-Trench Jenny Chang-Claude Marjanka K Schmidt Per Hall Roger L Milne Paul D P Pharoah Antonis C Antoniou Nilanjan Chatterjee Peter Kraft Montserrat García-Closas Jacques Simard Douglas F Easton

Am J Hum Genet 2019 Jan 13;104(1):21-34. Epub 2018 Dec 13.

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183040
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http://dx.doi.org/10.1016/j.ajhg.2018.11.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323553PMC
January 2019

BRCA1/2 Mutations and Bevacizumab in the Neoadjuvant Treatment of Breast Cancer: Response and Prognosis Results in Patients With Triple-Negative Breast Cancer From the GeparQuinto Study.

J Clin Oncol 2018 08 23;36(22):2281-2287. Epub 2018 May 23.

Peter A. Fasching and Matthias Rübner, Erlangen University Hospital, Friedrich-Alexander University of Erlangen-Nuremberg, Erlangen; Sibylle Loibl, Valentina Nekljudova, Karsten E. Weber, and Gunter von Minckwitz, German Breast Group Forschungs, Neu-Isenburg; Christian Schem, University Medical Center Schleswig-Holstein, Kiel; Hans Tesch, Centrum für Hämatologie und Onkologie Bethanien, Frankfurt; Michael Untch, Helios-Klinikum, Berlin-Buch; Jörn Hilfrich, Eilenriede-Klinik, Hannover; Mahdi Rezai, Luisenkrankenhaus; Tanja Fehm, Düsseldorf University Hospital, Heinrich-Heine University of Düsseldorf, Düsseldorf; Bernd Gerber, University of Rostock, Rostock; Serban Dan Costa, Magdeburg University Hospital, Magdeburg; Jens-Uwe Blohmer and Cornelia Liedtke, Charité University Hospital Campus Charité-Mitte, Berlin; Jens Huober, University of Ulm; Brigitte Rack, University Hospital Ulm, Ulm; Volkmar Müller, Hamburg University Hospital, Hamburg, Germany; Chunling Hu, Steven N. Hart, Hermela Shimelis, Raymond Moore, James N. Ingle, and Fergus J. Couch, Mayo Clinic; and Richard M. Weinshilboum and Liewei Wang, Mayo Clinic College of Medicine, Mayo Foundation, Rochester, MN.

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http://ascopubs.org/doi/10.1200/JCO.2017.77.2285
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http://dx.doi.org/10.1200/JCO.2017.77.2285DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6067803PMC
August 2018

Will Digital Pathology be as Disruptive as Genomics?

Authors:
Steven N Hart

J Pathol Inform 2018 19;9:27. Epub 2018 Jul 19.

Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.

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http://dx.doi.org/10.4103/jpi.jpi_25_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6106127PMC
July 2018

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

Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls.

Gynecol Oncol 2017 11 7;147(2):375-380. Epub 2017 Sep 7.

Huntsman Cancer Institute, Department of Dermatology, University of Utah School of Medicine, Salt Lake City, UT, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ygyno.2017.08.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5801741PMC
November 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

HARNESSING BIG DATA FOR PRECISION MEDICINE: INFRASTRUCTURES AND APPLICATIONS.

Pac Symp Biocomput 2017 ;22:635-639

Biomedical Informatics Training Program, Stanford University 3165 Porter Dr., Room 2270, Palo Alto, CA 94304, USA,

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http://dx.doi.org/10.1142/9789813207813_0058DOI Listing
March 2017

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

No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.

Authors:
Douglas F Easton Fabienne Lesueur Brennan Decker Kyriaki Michailidou Jun Li Jamie Allen Craig Luccarini Karen A Pooley Mitul Shah Manjeet K Bolla Qin Wang Joe Dennis Jamil Ahmad Ella R Thompson Francesca Damiola Maroulio Pertesi Catherine Voegele Noura Mebirouk Nivonirina Robinot Geoffroy Durand Nathalie Forey Robert N Luben Shahana Ahmed Kristiina Aittomäki Hoda Anton-Culver Volker Arndt Caroline Baynes Matthias W Beckman Javier Benitez David Van Den Berg William J Blot Natalia V Bogdanova Stig E Bojesen Hermann Brenner Jenny Chang-Claude Kee Seng Chia Ji-Yeob Choi Don M Conroy Angela Cox Simon S Cross Kamila Czene Hatef Darabi Peter Devilee Mikael Eriksson Peter A Fasching Jonine Figueroa Henrik Flyger Florentia Fostira Montserrat García-Closas Graham G Giles Gord Glendon Anna González-Neira Pascal Guénel Christopher A Haiman Per Hall Steven N Hart Mikael Hartman Maartje J Hooning Chia-Ni Hsiung Hidemi Ito Anna Jakubowska Paul A James Esther M John Nichola Johnson Michael Jones Maria Kabisch Daehee Kang Veli-Matti Kosma Vessela Kristensen Diether Lambrechts Na Li Annika Lindblom Jirong Long Artitaya Lophatananon Jan Lubinski Arto Mannermaa Siranoush Manoukian Sara Margolin Keitaro Matsuo Alfons Meindl Gillian Mitchell Kenneth Muir Ines Nevelsteen Ans van den Ouweland Paolo Peterlongo Sze Yee Phuah Katri Pylkäs Simone M Rowley Suleeporn Sangrajrang Rita K Schmutzler Chen-Yang Shen Xiao-Ou Shu Melissa C Southey Harald Surowy Anthony Swerdlow Soo H Teo Rob A E M Tollenaar Ian Tomlinson Diana Torres Thérèse Truong Celine Vachon Senno Verhoef Michelle Wong-Brown Wei Zheng Ying Zheng Heli Nevanlinna Rodney J Scott Irene L Andrulis Anna H Wu John L Hopper Fergus J Couch Robert Winqvist Barbara Burwinkel Elinor J Sawyer Marjanka K Schmidt Anja Rudolph Thilo Dörk Hiltrud Brauch Ute Hamann Susan L Neuhausen Roger L Milne Olivia Fletcher Paul D P Pharoah Ian G Campbell Alison M Dunning Florence Le Calvez-Kelm David E Goldgar Sean V Tavtigian Georgia Chenevix-Trench

J Med Genet 2016 05 26;53(5):298-309. Epub 2016 Feb 26.

Department of Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Australia.

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http://dx.doi.org/10.1136/jmedgenet-2015-103529DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4938802PMC
May 2016

Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.

Am J Hum Genet 2016 May;98(5):801-817

Department of Medicine, Division of Translational Medicine and Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA; Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.02.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863474PMC
May 2016

Transcriptomic and Immunohistochemical Profiling of SLC6A14 in Pancreatic Ductal Adenocarcinoma.

Biomed Res Int 2015 27;2015:593572. Epub 2015 May 27.

Department of Molecular Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA ; Department of Radiology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1155/2015/593572DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4461733PMC
March 2016

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers.

Authors:
Huong D Meeks Honglin Song Kyriaki Michailidou Manjeet K Bolla Joe Dennis Qin Wang Daniel Barrowdale Debra Frost Lesley McGuffog Steve Ellis Bingjian Feng Saundra S Buys John L Hopper Melissa C Southey Andrea Tesoriero Paul A James Fiona Bruinsma Ian G Campbell Annegien Broeks Marjanka K Schmidt Frans B L Hogervorst Matthias W Beckman Peter A Fasching Olivia Fletcher Nichola Johnson Elinor J Sawyer Elio Riboli Susana Banerjee Usha Menon Ian Tomlinson Barbara Burwinkel Ute Hamann Frederik Marme Anja Rudolph Ramunas Janavicius Laima Tihomirova Nadine Tung Judy Garber Daniel Cramer Kathryn L Terry Elizabeth M Poole Shelley S Tworoger Cecilia M Dorfling Elizabeth J van Rensburg Andrew K Godwin Pascal Guénel Thérèse Truong Dominique Stoppa-Lyonnet Francesca Damiola Sylvie Mazoyer Olga M Sinilnikova Claudine Isaacs Christine Maugard Stig E Bojesen Henrik Flyger Anne-Marie Gerdes Thomas V O Hansen Allen Jensen Susanne K Kjaer Claus Hogdall Estrid Hogdall Inge Sokilde Pedersen Mads Thomassen Javier Benitez Anna González-Neira Ana Osorio Miguel de la Hoya Pedro Perez Segura Orland Diez Conxi Lazaro Joan Brunet Hoda Anton-Culver Lee Eunjung Esther M John Susan L Neuhausen Yuan Chun Ding Danielle Castillo Jeffrey N Weitzel Patricia A Ganz Robert L Nussbaum Salina B Chan Beth Y Karlan Jenny Lester Anna Wu Simon Gayther Susan J Ramus Weiva Sieh Alice S Whittermore Alvaro N A Monteiro Catherine M Phelan Mary Beth Terry Marion Piedmonte Kenneth Offit Mark Robson Douglas Levine Kirsten B Moysich Rikki Cannioto Sara H Olson Mary B Daly Katherine L Nathanson Susan M Domchek Karen H Lu Dong Liang Michelle A T Hildebrant Roberta Ness Francesmary Modugno Leigh Pearce Marc T Goodman Pamela J Thompson Hermann Brenner Katja Butterbach Alfons Meindl Eric Hahnen Barbara Wappenschmidt Hiltrud Brauch Thomas Brüning Carl Blomqvist Sofia Khan Heli Nevanlinna Liisa M Pelttari Kristiina Aittomäki Ralf Butzow Natalia V Bogdanova Thilo Dörk Annika Lindblom Sara Margolin Johanna Rantala Veli-Matti Kosma Arto Mannermaa Diether Lambrechts Patrick Neven Kathleen B M Claes Tom Van Maerken Jenny Chang-Claude Dieter Flesch-Janys Florian Heitz Raymonda Varon-Mateeva Paolo Peterlongo Paolo Radice Alessandra Viel Monica Barile Bernard Peissel Siranoush Manoukian Marco Montagna Cristina Oliani Ana Peixoto Manuel R Teixeira Anita Collavoli Emily Hallberg Janet E Olson Ellen L Goode Steven N Hart Hermela Shimelis Julie M Cunningham Graham G Giles Roger L Milne Sue Healey Kathy Tucker Christopher A Haiman Brian E Henderson Mark S Goldberg Marc Tischkowitz Jacques Simard Penny Soucy Diana M Eccles Nhu Le Anne-Lise Borresen-Dale Vessela Kristensen Helga B Salvesen Line Bjorge Elisa V Bandera Harvey Risch Wei Zheng Alicia Beeghly-Fadiel Hui Cai Katri Pylkäs Robert A E M Tollenaar Ans M W van der Ouweland Irene L Andrulis Julia A Knight Steven Narod Peter Devilee Robert Winqvist Jonine Figueroa Mark H Greene Phuong L Mai Jennifer T Loud Montserrat García-Closas Minouk J Schoemaker Kamila Czene Hatef Darabi Iain McNeish Nadeem Siddiquil Rosalind Glasspool Ava Kwong Sue K Park Soo Hwang Teo Sook-Yee Yoon Keitaro Matsuo Satoyo Hosono Yin Ling Woo Yu-Tang Gao Lenka Foretova Christian F Singer Christine Rappaport-Feurhauser Eitan Friedman Yael Laitman Gad Rennert Evgeny N Imyanitov Peter J Hulick Olufunmilayo I Olopade Leigha Senter Edith Olah Jennifer A Doherty Joellen Schildkraut Linetta B Koppert Lambertus A Kiemeney Leon F A G Massuger Linda S Cook Tanja Pejovic Jingmei Li Ake Borg Anna Öfverholm Mary Anne Rossing Nicolas Wentzensen Karin Henriksson Angela Cox Simon S Cross Barbara J Pasini Mitul Shah Maria Kabisch Diana Torres Anna Jakubowska Jan Lubinski Jacek Gronwald Bjarni A Agnarsson Jolanta Kupryjanczyk Joanna Moes-Sosnowska Florentia Fostira Irene Konstantopoulou Susan Slager Michael Jones Antonis C Antoniou Andrew Berchuck Anthony Swerdlow Georgia Chenevix-Trench Alison M Dunning Paul D P Pharoah Per Hall Douglas F Easton Fergus J Couch Amanda B Spurdle David E Goldgar

Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients.

Cancer Epidemiol Biomarkers Prev 2016 Jan 19;25(1):207-11. Epub 2015 Oct 19.

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota. Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota.

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http://dx.doi.org/10.1158/1055-9965.EPI-15-0455DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4754121PMC
January 2016

PANDA: pathway and annotation explorer for visualizing and interpreting gene-centric data.

PeerJ 2015 19;3:e970. Epub 2015 May 19.

Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.7717/peerj.970DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4451017PMC
June 2015

Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.

J Clin Oncol 2015 Feb 1;33(4):304-11. Epub 2014 Dec 1.

Fergus J. Couch, Steven N. Hart, Xianshu Wang, Janet E. Olson, Vernon S. Pankratz, Curtis Olswold, Seth Slettedahl, Emily Hallberg, Lucia Guidugli, Jaime Davila, Susan L. Slager, and Celine M. Vachon, Mayo Clinic, Rochester, MN; Priyanka Sharma, Andrew K. Godwin, and Jennifer Klemp, University of Kansas Medical Center, Kansas City, KS; Amanda Ewart Toland, Robert Pilarski, and Charles L. Shapiro, Ohio State University, Columbus, OH; Penelope Miron and Judy Garber, Dana-Farber Cancer Institute, Boston, MA; Matthias W. Beckmann, Arif B. Ekici, and Peter A. Fasching, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen; Wolfgang Janni, University Hospital Ulm, Ulm; Brigitte Rack, Ludwig-Maximilians University Munich, Munich; Hiltrud Brauch, Margarete Fischer-Bosch Institute of Clinical Pharmacology, University of Tubingen, Stuttgart, and German Cancer Consortium and German Cancer Research Center, Heidelberg, Germany; Dennis J. Slamon and Peter A. Fasching, University of California, Los Angeles, Los Angeles, CA; Irene Konstantopoulou, Florentia Fostira, Athanassios Vratimos, and Drakoulis Yannoukakos, National Centre for Scientific Research "Demokritos," Athens; George Fountzilas, "Papageorgiou" Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece; Liisa M. Pelttari and Heli Nevanlinna, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland; William J. Tapper, Lorraine Durcan, and Diana M. Eccles, University of Southampton, Southampton; Simon S. Cross and Angela Cox, University of Sheffield, Sheffield, United Kingdom; and Song Yao and Christine Ambrosone, Roswell Park Cancer Institute, Buffalo, NY.

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February 2015

Bioinformatics for clinical next generation sequencing.

Clin Chem 2015 Jan 1;61(1):124-35. Epub 2014 Dec 1.

Department of Health Sciences Research, Mayo Clinic, Rochester, MN.

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http://dx.doi.org/10.1373/clinchem.2014.224360DOI Listing
January 2015

From days to hours: reporting clinically actionable variants from whole genome sequencing.

PLoS One 2014 5;9(2):e86803. Epub 2014 Feb 5.

Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3914798PMC
November 2014

SoftSearch: integration of multiple sequence features to identify breakpoints of structural variations.

PLoS One 2013 16;8(12):e83356. Epub 2013 Dec 16.

Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865185PMC
October 2014

Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer.

Proc Natl Acad Sci U S A 2014 Oct 6;111(42):15172-7. Epub 2014 Oct 6.

Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Biomedicum Helsinki, FIN-00029 HUS, Helsinki, Finland;

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4210278PMC
October 2014

PatternCNV: a versatile tool for detecting copy number changes from exome sequencing data.

Bioinformatics 2014 Sep 29;30(18):2678-80. Epub 2014 May 29.

Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Division of Epidemiology, Department of Health Sciences Research, Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4155258PMC
September 2014

The Biological Reference Repository (BioR): a rapid and flexible system for genomics annotation.

Bioinformatics 2014 Jul 10;30(13):1920-2. Epub 2014 Mar 10.

Division of Biomedical Statistics and Informatics, Department of Health Sciences Research and Department of Research IT, Mayo Clinic, Rochester, MN 55905, USA and Department of Biomedical Informatics, Arizona State University, Scottsdale, AZ 85259, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4071205PMC
July 2014

Somatic expression of ENRAGE is associated with obesity status among patients with clear cell renal cell carcinoma.

Carcinogenesis 2014 Apr 28;35(4):822-7. Epub 2013 Dec 28.

Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1093/carcin/bgt485DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3977147PMC
April 2014

Calculating sample size estimates for RNA sequencing data.

J Comput Biol 2013 Dec 20;20(12):970-8. Epub 2013 Aug 20.

1 Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic , Rochester, Minnesota.

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http://dx.doi.org/10.1089/cmb.2012.0283DOI Listing
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December 2013

APOBEC3B upregulation and genomic mutation patterns in serous ovarian carcinoma.

Cancer Res 2013 Dec 23;73(24):7222-31. Epub 2013 Oct 23.

Authors' Affiliations: Biochemistry, Molecular Biology and Biophysics Department; Masonic Cancer Center, University of Minnesota, Minneapolis; Division of Biomedical Statistics and Informatics, Department of Health Sciences Research; Medical Genome Facility and Department of Laboratory Medicine and Pathology; Department of Laboratory Medicine and Pathology; Division of Medical Oncology, Department of Oncology; Division of Epidemiology, Department of Health Sciences Research; Division of Oncology Research, Department of Oncology; Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic; Women's Cancer Program, Mayo Clinic Cancer Center, Rochester, Minnesota; Department of Cancer Biology, University of Kansas, Kansas City, Kansas; Department of Obstetrics & Gynecology, University of Washington School of Medicine, Seattle, Washington; and Illumina Cambridge Ltd, Chesterford Research Park, Little Chesterford, Cambridge, United Kingdom.

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http://dx.doi.org/10.1158/0008-5472.CAN-13-1753DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3867573PMC
December 2013

The role of CYP3A4 mRNA transcript with shortened 3'-untranslated region in hepatocyte differentiation, liver development, and response to drug induction.

Mol Pharmacol 2012 Jan 13;81(1):86-96. Epub 2011 Oct 13.

Department of Pharmacology, Toxicology, and Therapeutics, University of Kansas Medical Center, Kansas City, Kansas 66160, USA.

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http://dx.doi.org/10.1124/mol.111.074393DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3250109PMC
January 2012

Farnesoid X receptor activation mediates head-to-tail chromatin looping in the Nr0b2 gene encoding small heterodimer partner.

Mol Endocrinol 2010 Jul 5;24(7):1404-12. Epub 2010 May 5.

Department of Pharmacology, Toxicology, and Therapeutics, University of Kansas Medical Center, Kansas City, Kansas 66160, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2903909PMC
July 2010

A comparison of whole genome gene expression profiles of HepaRG cells and HepG2 cells to primary human hepatocytes and human liver tissues.

Drug Metab Dispos 2010 Jun 12;38(6):988-94. Epub 2010 Mar 12.

Department of Pharmacology, Toxicology, and Therapeutics, University of Kansas Medical Center, 3901 Rainbow Boulevard, Kansas City, KS 66160, USA.

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http://dx.doi.org/10.1124/dmd.109.031831DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2879958PMC
June 2010

Genome-wide tissue-specific farnesoid X receptor binding in mouse liver and intestine.

Hepatology 2010 Apr;51(4):1410-9

Department of Pharmacology, Toxicology, and Therapeutics, University of Kansas Medical Center, Kansas City, KS, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4855519PMC
April 2010

Dynamic patterns of histone methylation are associated with ontogenic expression of the Cyp3a genes during mouse liver maturation.

Mol Pharmacol 2009 May 2;75(5):1171-9. Epub 2009 Feb 2.

Department of Pharmacology, Toxicology, and Therapeutics, The University of Kansas Medical Center, Kansas City, KS 66160, USA.

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http://dx.doi.org/10.1124/mol.108.052993DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2672803PMC
May 2009

Three patterns of cytochrome P450 gene expression during liver maturation in mice.

Drug Metab Dispos 2009 Jan 9;37(1):116-21. Epub 2008 Oct 9.

Department of Pharmacology, Toxicology, and Therapeutics, University of Kansas Medical Center, 3901 Rainbow Boulevard, Kansas City, Kansas 66160, USA.

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http://dx.doi.org/10.1124/dmd.108.023812DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2683655PMC
January 2009

P450 oxidoreductase: genetic polymorphisms and implications for drug metabolism and toxicity.

Expert Opin Drug Metab Toxicol 2008 Apr;4(4):439-52

University of Kansas Medical Center, Department of Pharmacology, Toxicology, and Therapeutics, 3901 Rainbow Boulevard, Kansas City, Kansas 66160, USA.

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April 2008

Microarray analysis of the in vivo sequence preferences of a minor groove binding drug.

BMC Genomics 2008 Jan 23;9:32. Epub 2008 Jan 23.

Biology Department, Missouri Western State University, Saint Joseph, MO, 64507, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2254601PMC
January 2008

Genetic polymorphisms in cytochrome P450 oxidoreductase influence microsomal P450-catalyzed drug metabolism.

Pharmacogenet Genomics 2008 Jan;18(1):11-24

Department of Pharmacology, Toxicology, and Therapeutics, University of Kansas Medical Center, Kansas City, KS 66160, USA.

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January 2008

Novel SNPs in cytochrome P450 oxidoreductase.

Drug Metab Pharmacokinet 2007 Aug;22(4):322-6

Department of Pharmacology, Toxicology, and Therapeutics, The University of Kansas Medical Center, KS 66160, USA.

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August 2007