Alessandra Viel

Alessandra Viel

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Alessandra Viel

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Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Authors:
Michael T Parsons Emma Tudini Hongyan Li Eric Hahnen Barbara Wappenschmidt Lidia Feliubadaló Cora M Aalfs Simona Agata Kristiina Aittomäki Elisa Alducci María Concepción Alonso-Cerezo Norbert Arnold Bernd Auber Rachel Austin Jacopo Azzollini Judith Balmaña Elena Barbieri Claus R Bartram Ana Blanco Britta Blümcke Sandra Bonache Bernardo Bonanni Åke Borg Beatrice Bortesi Joan Brunet Carla Bruzzone Karolin Bucksch Giulia Cagnoli Trinidad Caldés Almuth Caliebe Maria A Caligo Mariarosaria Calvello Gabriele L Capone Sandrine M Caputo Ileana Carnevali Estela Carrasco Virginie Caux-Moncoutier Pietro Cavalli Giulia Cini Edward M Clarke Paola Concolino Elisa J Cops Laura Cortesi Fergus J Couch Esther Darder Miguel de la Hoya Michael Dean Irmgard Debatin Jesús Del Valle Capucine Delnatte Nicolas Derive Orland Diez Nina Ditsch Susan M Domchek Véronique Dutrannoy Diana M Eccles Hans Ehrencrona Ute Enders D Gareth Evans Ulrike Faust Ute Felbor Irene Feroce Miriam Fine Henrique C R Galvao Gaetana Gambino Andrea Gehrig Francesca Gensini Anne-Marie Gerdes Aldo Germani Jutta Giesecke Viviana Gismondi Carolina Gómez Encarna B Gómez Garcia Sara González Elia Grau Sabine Grill Eva Gross Aliana Guerrieri-Gonzaga Marine Guillaud-Bataille Sara Gutiérrez-Enríquez Thomas Haaf Karl Hackmann Thomas V O Hansen Marion Harris Jan Hauke Tilman Heinrich Heide Hellebrand Karen N Herold Ellen Honisch Judit Horvath Claude Houdayer Verena Hübbel Silvia Iglesias Angel Izquierdo Paul A James Linda A M Janssen Udo Jeschke Silke Kaulfuß Katharina Keupp Marion Kiechle Alexandra Kölbl Sophie Krieger Torben A Kruse Anders Kvist Fiona Lalloo Mirjam Larsen Vanessa L Lattimore Charlotte Lautrup Susanne Ledig Elena Leinert Alexandra L Lewis Joanna Lim Markus Loeffler Adrià López-Fernández Emanuela Lucci-Cordisco Nicolai Maass Siranoush Manoukian Monica Marabelli Laura Matricardi Alfons Meindl Rodrigo D Michelli Setareh Moghadasi Alejandro Moles-Fernández Marco Montagna Gemma Montalban Alvaro N Monteiro Eva Montes Luigi Mori Lidia Moserle Clemens R Müller Christoph Mundhenke Nadia Naldi Katherine L Nathanson Matilde Navarro Heli Nevanlinna Cassandra B Nichols Dieter Niederacher Henriette R Nielsen Kai-Ren Ong Nicholas Pachter Edenir I Palmero Laura Papi Inge Sokilde Pedersen Bernard Peissel Pedro Pérez-Segura Katharina Pfeifer Marta Pineda Esther Pohl-Rescigno Nicola K Poplawski Berardino Porfirio Anne S Quante Juliane Ramser Rui M Reis Françoise Revillion Kerstin Rhiem Barbara Riboli Julia Ritter Daniela Rivera Paula Rofes Andreas Rump Monica Salinas Ana María Sánchez de Abajo Gunnar Schmidt Ulrike Schoenwiese Jochen Seggewiß Ares Solanes Doris Steinemann Mathias Stiller Dominique Stoppa-Lyonnet Kelly J Sullivan Rachel Susman Christian Sutter Sean V Tavtigian Soo H Teo Alex Teulé Mads Thomassen Maria Grazia Tibiletti Silvia Tognazzo Amanda E Toland Eva Tornero Therese Törngren Sara Torres-Esquius Angela Toss Alison H Trainer Christi J van Asperen Marion T van Mackelenbergh Liliana Varesco Gardenia Vargas-Parra Raymonda Varon Ana Vega Ángela Velasco Anne-Sophie Vesper Alessandra Viel Maaike P G Vreeswijk Sebastian A Wagner Anke Waha Logan C Walker Rhiannon J Walters Shan Wang-Gohrke Bernhard H F Weber Wilko Weichert Kerstin Wieland Lisa Wiesmüller Isabell Witzel Achim Wöckel Emma R Woodward Silke Zachariae Valentina Zampiga Christine Zeder-Göß Conxi Lázaro Arcangela De Nicolo Paolo Radice Christoph Engel Rita K Schmutzler David E Goldgar Amanda B Spurdle

Hum Mutat 2019 May 27. Epub 2019 May 27.

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

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http://dx.doi.org/10.1002/humu.23818DOI Listing
May 2019

Massive juvenile polyposis of the stomach in a family with SMAD4 gene mutation.

Fam Cancer 2019 04;18(2):165-172

Dipartimento di Medicina Diagnostica, Clinica e Sanità Pubblica, Università di Modena e Reggio Emilia, Policlinico, Via del Pozzo n.71, 41100, Modena, Italy.

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http://link.springer.com/10.1007/s10689-018-0100-8
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http://dx.doi.org/10.1007/s10689-018-0100-8DOI Listing
April 2019

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

Molecular and Pathological Features of Gastric Cancer in Lynch Syndrome and Familial Adenomatous Polyposis.

Int J Mol Sci 2018 Jun 6;19(6). Epub 2018 Jun 6.

SOC di Gastroenterologia Oncologica, Centro di Riferimento Oncologico IRCSS, 33081 Aviano, Italy.

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http://dx.doi.org/10.3390/ijms19061682DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6032275PMC
June 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

Somatic Testing on Gynecological Cancers Improve the Identification of Lynch Syndrome.

Int J Gynecol Cancer 2017 09;27(7):1543-1549

*Department of Pathology, Ospedale di Circolo, ASST Settelaghi, Varese; †Department of Medicine and Surgery, University of Insubria, Varese; ‡Unit of Functional Onco-Genomics and Genetics, CRO Aviano, National Cancer Institute, Aviano (PN); and §Department of Obstetrics and Gynecology, Ospedale di Circolo ASST Settelaghi, Varese, Italy.

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http://dx.doi.org/10.1097/IGC.0000000000001010DOI Listing
September 2017

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores.

Authors:
Julie Lecarpentier Valentina Silvestri Karoline B Kuchenbaecker Daniel Barrowdale Joe Dennis Lesley McGuffog Penny Soucy Goska Leslie Piera Rizzolo Anna Sara Navazio Virginia Valentini Veronica Zelli Andrew Lee Ali Amin Al Olama Jonathan P Tyrer Melissa Southey Esther M John Thomas A Conner David E Goldgar Saundra S Buys Ramunas Janavicius Linda Steele Yuan Chun Ding Susan L Neuhausen Thomas V O Hansen Ana Osorio Jeffrey N Weitzel Angela Toss Veronica Medici Laura Cortesi Ines Zanna Domenico Palli Paolo Radice Siranoush Manoukian Bernard Peissel Jacopo Azzollini Alessandra Viel Giulia Cini Giuseppe Damante Stefania Tommasi Paolo Peterlongo Florentia Fostira Ute Hamann D Gareth Evans Alex Henderson Carole Brewer Diana Eccles Jackie Cook Kai-Ren Ong Lisa Walker Lucy E Side Mary E Porteous Rosemarie Davidson Shirley Hodgson Debra Frost Julian Adlard Louise Izatt Ros Eeles Steve Ellis Marc Tischkowitz Andrew K Godwin Alfons Meindl Andrea Gehrig Bernd Dworniczak Christian Sutter Christoph Engel Dieter Niederacher Doris Steinemann Eric Hahnen Jan Hauke Kerstin Rhiem Karin Kast Norbert Arnold Nina Ditsch Shan Wang-Gohrke Barbara Wappenschmidt Dorothea Wand Christine Lasset Dominique Stoppa-Lyonnet Muriel Belotti Francesca Damiola Laure Barjhoux Sylvie Mazoyer Mattias Van Heetvelde Bruce Poppe Kim De Leeneer Kathleen B M Claes Miguel de la Hoya Vanesa Garcia-Barberan Trinidad Caldes Pedro Perez Segura Johanna I Kiiski Kristiina Aittomäki Sofia Khan Heli Nevanlinna Christi J van Asperen Tibor Vaszko Miklos Kasler Edith Olah Judith Balmaña Sara Gutiérrez-Enríquez Orland Diez Alex Teulé Angel Izquierdo Esther Darder Joan Brunet Jesús Del Valle Lidia Feliubadalo Miquel Angel Pujana Conxi Lazaro Adalgeir Arason Bjarni A Agnarsson Oskar Th Johannsson Rosa B Barkardottir Elisa Alducci Silvia Tognazzo Marco Montagna Manuel R Teixeira Pedro Pinto Amanda B Spurdle Helene Holland Jong Won Lee Min Hyuk Lee Jihyoun Lee Sung-Won Kim Eunyoung Kang Zisun Kim Priyanka Sharma Timothy R Rebbeck Joseph Vijai Mark Robson Anne Lincoln Jacob Musinsky Pragna Gaddam Yen Y Tan Andreas Berger Christian F Singer Jennifer T Loud Mark H Greene Anna Marie Mulligan Gord Glendon Irene L Andrulis Amanda Ewart Toland Leigha Senter Anders Bojesen Henriette Roed Nielsen Anne-Bine Skytte Lone Sunde Uffe Birk Jensen Inge Sokilde Pedersen Lotte Krogh Torben A Kruse Maria A Caligo Sook-Yee Yoon Soo-Hwang Teo Anna von Wachenfeldt Dezheng Huo Sarah M Nielsen Olufunmilayo I Olopade Katherine L Nathanson Susan M Domchek Christa Lorenchick Rachel C Jankowitz Ian Campbell Paul James Gillian Mitchell Nick Orr Sue Kyung Park Mads Thomassen Kenneth Offit Fergus J Couch Jacques Simard Douglas F Easton Georgia Chenevix-Trench Rita K Schmutzler Antonis C Antoniou Laura Ottini

J Clin Oncol 2017 Jul 27;35(20):2240-2250. Epub 2017 Apr 27.

Julie Lecarpentier, Karoline B. Kuchenbaecker, Daniel Barrowdale, Joe Dennis, Lesley McGuffog, Goska Leslie, Andrew Lee, Ali Amin Al Olama, Jonathan P. Tyrer, Debra Frost, Steve Ellis, Douglas F. Easton, and Antonis C. Antoniou, University of Cambridge; Karoline B. Kuchenbaecker, The Wellcome Trust Sanger Institute, Hinxton; Marc Tischkowitz, Addenbrooke's Treatment Centre, Addenbrooke's Hospital, Cambridge; D. Gareth Evans, Manchester University, Central Manchester University Hospitals NHS Foundation Trust, Manchester; Alex Henderson, Newcastle Upon Tyne Hospitals NHS Trust, Newcastle upon Tyne; Carole Brewer, Royal Devon and Exeter Hospital, Exeter; Diana Eccles, Southampton University Hospitals NHS Trust, Southampton; Jackie Cook, Sheffield Children's Hospital, Sheffield; Kai-ren Ong, Birmingham Women's Hospital Healthcare NHS Trust, Edgbaston, Birmingham; Lisa Walker, Churchill Hospital, Oxford; Lucy E. Side, Great Ormond Street Hospital for Children NHS Trust; Shirley Hodgson, St George's, University of London; Louise Izatt, Guy's and St Thomas' NHS Foundation Trust; Ros Eeles, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust; Nick Orr, The Institute of Cancer Research, London; Mary E. Porteous, Western General Hospital, Edinburgh; Rosemarie Davidson, South Glasgow University Hospitals, Glasgow; Julian Adlard, Chapel Allerton Hospital, Leeds, United Kingdom; Valentina Silvestri, Piera Rizzolo, Anna Sara Navazio, Virginia Valentini, Veronica Zelli, and Laura Ottini, Sapienza University of Rome, Rome; Angela Toss, Veronica Medici, and Laura Cortesi, University of Modena and Reggio Emilia, Modena; Ines Zanna and Domenico Palli, Cancer Research and Prevention Institute, Florence; Paolo Radice, Siranoush Manoukian, Bernard Peissel, and Jacopo Azzollini, Fondazione Istituto Di Ricovero e Cura a Carattere Scientifico (IRCCS) Istituto Nazionale Tumori (INT); Paolo Peterlongo, Italian Foundation for Cancer Research Institute of Molecular Oncology (IFOM), Milan; Alessandra Viel and Giulia Cini, CRO Aviano, National Cancer Institute, Aviano; Giuseppe Damante, University of Udine, Udine; Stefania Tommasi, Istituto Nazionale Tumori "Giovanni Paolo II", Bari; Elisa Alducci, Silvia Tognazzo, and Marco Montagna, Veneto Institute of Oncology IOV - IRCCS, Padua; Maria A. Caligo, University and University Hospital of Pisa, Pisa, Italy; Penny Soucy and Jacques Simard, Centre Hospitalier Universitaire de Québec Research Center and Laval University, Quebec City, Quebec; Anna Marie Mulligan and Irene L. Andrulis, University of Toronto; Gord Glendon and Irene L. Andrulis, Mount Sinai Hospital, Toronto, Ontario, Canada; Melissa Southey, Ian Campbell, Paul James, and Gillian Mitchell, University of Melbourne, Parkville, Victoria; Amanda B. Spurdle, Helene Holland, and Georgia Chenevix-Trench, QIMR Berghofer Medical Research Institute, Brisbane, Queensland; Ian Campbell, Paul James, and Gillian Mitchell, Peter MacCallum Cancer Centre, East Melbourne, New South Wales, Australia; Esther M. John, Cancer Prevention Institute of California, Fremont; Linda Steele, Yuan Chun Ding, Susan L. Neuhausen, and Jeffrey N. Weitzel, City of Hope, Duarte, CA; Thomas A. Conner and Saundra S. Buys, Huntsman Cancer Institute; David E. Goldgar, University of Utah School of Medicine, Salt Lake City, UT; Andrew K. Godwin, University of Kansas Medical Center, Kansas City; Priyanka Sharma, University of Kansas Medical Center, Westwood, KS; Timothy R. Rebbeck, Harvard TH Chan School of Public Health and Dana Farber Cancer Institute, Boston, MA; Joseph Vijai, Mark Robson, Anne Lincoln, Jacob Musinsky, Pragna Gaddam, and Kenneth Offit, Memorial Sloan Kettering Cancer Center, New York, NY; Jennifer T. Loud and Mark H. Greene, National Cancer Institute, Bethesda, MD; Amanda Ewart Toland and Leigha Senter, The Ohio State University, Columbus, OH; Dezheng Huo, Sarah M. Nielsen, and Olufunmilayo I. Olopade, University of Chicago Medical Center, Chicago, IL; Katherine L. Nathanson and Susan M. Domchek, University of Pennsylvania, Philadelphia; Christa Lorenchick and Rachel C. Jankowitz, University of Pittsburgh Medical Center, Pittsburgh, PA; Fergus J. Couch, Mayo Clinic, Rochester, MN; Ramunas Janavicius, State Research Institute Innovative Medicine Center, Vilnius, Lithuania; Thomas V.O. Hansen, Rigshospitalet, Copenhagen University Hospital, Copenhagen; Anders Bojesen and Henriette Roed Nielsen, Vejle Hospital, Vejle; Anne-Bine Skytte, Lone Sunde, and Uffe Birk Jensen, Aarhus University Hospital, Aarhus; Inge Sokilde Pedersen, Aalborg University Hospital, Aalborg; Lotte Krogh, Torben A. Kruse, and Mads Thomassen, Odense University Hospital, Odense, Denmark; Ana Osorio, National Cancer Research Centre and Spanish Network on Rare Diseases; Miguel de la Hoya, Vanesa Garcia-Barberan, Trinidad Caldes, and Pedro Perez Segura, Hospital Clinico San Carlos, El Instituto de Investigación Sanitaria del Hospital Clínico San Carlos, Madrid; Judith Balmaña, University Hospital, Vall d'Hebron; Sara Gutiérrez-Enríquez and Orland Diez, Vall d'Hebron Institute of Oncology; Orland Diez, University Hospital Vall d'Hebron; Alex Teulé, Jesús Del Valle, Lidia Feliubadalo, Miquel Angel Pujana, and Conxi Lazaro, Bellvitge Biomedical Research Institute, Catalan Institute of Oncology, Barcelona; Angel Izquierdo, Esther Darder, and Joan Brunet, Institut d'Investigació Biomèdica de Girona, Catalan Institute of Oncology, Girona, Spain; Florentia Fostira, National Centre for Scientific Research "Demokritos," Athens, Greece; Ute Hamann, German Cancer Research Center (DKFZ); Christian Sutter, University Hospital Heidelberg, Heidelberg; Alfons Meindl, Klinikumrechts der Isar, Technical University Munich; Nina Ditsch, Ludwig-Maximilian University, Munich; Andrea Gehrig, University Würzburg, Würzburg; Bernd Dworniczak, University of Münster, Münster; Christoph Engel, University of Leipzig; Dorothea Wand, University Hospital, Leipzig; Dieter Niederacher, University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf; Doris Steinemann, Hannover Medical School, Hannover; Eric Hahnen, Jan Hauke, Kerstin Rhiem, Barbara Wappenschmidt, and Rita K. Schmutzler, University Hospital Cologne, Cologne; Karin Kast, University Hospital Carl Gustav Carus, Technical University Dresden, Dresden; Norbert Arnold, University Hospital of Schleswig-Holstein, Christian-Albrechts University Kiel, Kiel; Shan Wang-Gohrke, University Hospital Ulm, Ulm, Germany; Christine Lasset, Francesca Damiola, and Laure Barjhoux, Centre Léon Bérard; Sylvie Mazoyer, University of Lyon, Lyon; Dominique Stoppa-Lyonnet and Muriel Belotti, Institut Curie, Paris, France; Mattias Van Heetvelde, Bruce Poppe, Kim De Leeneer, and Kathleen B.M. Claes, Ghent University, Gent, Belgium; Johanna I. Kiiski, Sofia Khan, and Heli Nevanlinna, University of Helsinki; Johanna I. Kiiski, Kristiina Aittomäki, Sofia Khan, and Heli Nevanlinna, Helsinki University Hospital, Helsinki, Finland; Christi J. van Asperen, Leiden University Medical Center, Leiden, the Netherlands; Tibor Vaszko, Miklos Kasler, and Edith Olah, National Institute of Oncology, Budapest, Hungary; Adalgeir Arason, Bjarni A. Agnarsson, Oskar Th. Johannsson, and Rosa B. Barkardottir, Landspitali University Hospital and Biomedical Centre, University of Iceland, Reykjavik, Iceland; Manuel R. Teixeira and Pedro Pinto, Portuguese Oncology Institute; Manuel R. Teixeira, Porto University, Porto, Portugal; Jong Won Lee, Ulsan College of Medicine and Asan Medical Center; Min Hyuk Lee and Jihyoun Lee, Soonchunhyang University and Hospital; Sung-Won Kim and Eunyoung Kang, Daerim St Mary's Hospital; Sue Kyung Park, Seoul National University College of Medicine, Seoul; Zisun Kim, Soonchunhyang University Bucheon Hospital, Bucheon, Korea; Yen Y. Tan, Andreas Berger, and Christian F. Singer, Medical University of Vienna, Vienna, Austria; Sook-Yee Yoon and Soo-Hwang Teo, Sime Darby Medical Centre, Subang Jaya, Malaysia; and Anna von Wachenfeldt, Karolinska University Hospital, Stockholm, Sweden.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501359PMC
July 2017

Disruption of the APC gene by t(5;7) translocation in a Turcot family.

Cancer Genet 2016 Mar 17;209(3):107-11. Epub 2015 Dec 17.

Ospedale di Circolo di Varese, Unit of Pathology, via O. Rossi 9, IT-21100 Varese, Italy.

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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

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.

Authors:
Valentina Silvestri Daniel Barrowdale Anna Marie Mulligan Susan L Neuhausen Stephen Fox Beth Y Karlan Gillian Mitchell Paul James Darcy L Thull Kristin K Zorn Natalie J Carter Katherine L Nathanson Susan M Domchek Timothy R Rebbeck Susan J Ramus Robert L Nussbaum Olufunmilayo I Olopade Johanna Rantala Sook-Yee Yoon Maria A Caligo Laura Spugnesi Anders Bojesen Inge Sokilde Pedersen Mads Thomassen Uffe Birk Jensen Amanda Ewart Toland Leigha Senter Irene L Andrulis Gord Glendon Peter J Hulick Evgeny N Imyanitov Mark H Greene Phuong L Mai Christian F Singer Christine Rappaport-Fuerhauser Gero Kramer Joseph Vijai Kenneth Offit Mark Robson Anne Lincoln Lauren Jacobs Eva Machackova Lenka Foretova Marie Navratilova Petra Vasickova Fergus J Couch Emily Hallberg Kathryn J Ruddy Priyanka Sharma Sung-Won Kim Manuel R Teixeira Pedro Pinto Marco Montagna Laura Matricardi Adalgeir Arason Oskar Th Johannsson Rosa B Barkardottir Anna Jakubowska Jan Lubinski Angel Izquierdo Miguel Angel Pujana Judith Balmaña Orland Diez Gabriella Ivady Janos Papp Edith Olah Ava Kwong Heli Nevanlinna Kristiina Aittomäki Pedro Perez Segura Trinidad Caldes Tom Van Maerken Bruce Poppe Kathleen B M Claes Claudine Isaacs Camille Elan Christine Lasset Dominique Stoppa-Lyonnet Laure Barjhoux Muriel Belotti Alfons Meindl Andrea Gehrig Christian Sutter Christoph Engel Dieter Niederacher Doris Steinemann Eric Hahnen Karin Kast Norbert Arnold Raymonda Varon-Mateeva Dorothea Wand Andrew K Godwin D Gareth Evans Debra Frost Jo Perkins Julian Adlard Louise Izatt Radka Platte Ros Eeles Steve Ellis Ute Hamann Judy Garber Florentia Fostira George Fountzilas Barbara Pasini Giuseppe Giannini Piera Rizzolo Antonio Russo Laura Cortesi Laura Papi Liliana Varesco Domenico Palli Ines Zanna Antonella Savarese Paolo Radice Siranoush Manoukian Bernard Peissel Monica Barile Bernardo Bonanni Alessandra Viel Valeria Pensotti Stefania Tommasi Paolo Peterlongo Jeffrey N Weitzel Ana Osorio Javier Benitez Lesley McGuffog Sue Healey Anne-Marie Gerdes Bent Ejlertsen Thomas V O Hansen Linda Steele Yuan Chun Ding Nadine Tung Ramunas Janavicius David E Goldgar Saundra S Buys Mary B Daly Anita Bane Mary Beth Terry Esther M John Melissa Southey Douglas F Easton Georgia Chenevix-Trench Antonis C Antoniou Laura Ottini

Breast Cancer Res 2016 Feb 9;18(1):15. Epub 2016 Feb 9.

Department of Molecular Medicine, Sapienza University of Rome, Viale Regina Elena, 324, 00161, Rome, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746828PMC
February 2016

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.

Authors:
Paolo Peterlongo Irene Catucci Mara Colombo Laura Caleca Eliseos Mucaki Massimo Bogliolo Maria Marin Francesca Damiola Loris Bernard Valeria Pensotti Sara Volorio Valentina Dall'Olio Alfons Meindl Claus Bartram Christian Sutter Harald Surowy Valérie Sornin Marie-Gabrielle Dondon Séverine Eon-Marchais Dominique Stoppa-Lyonnet Nadine Andrieu Olga M Sinilnikova Gillian Mitchell Paul A James Ella Thompson Marina Marchetti Cristina Verzeroli Carmen Tartari Gabriele Lorenzo Capone Anna Laura Putignano Maurizio Genuardi Veronica Medici Isabella Marchi Massimo Federico Silvia Tognazzo Laura Matricardi Simona Agata Riccardo Dolcetti Lara Della Puppa Giulia Cini Viviana Gismondi Valeria Viassolo Chiara Perfumo Maria Antonietta Mencarelli Margherita Baldassarri Bernard Peissel Gaia Roversi Valentina Silvestri Piera Rizzolo Francesca Spina Caterina Vivanet Maria Grazia Tibiletti Maria Adelaide Caligo Gaetana Gambino Stefania Tommasi Brunella Pilato Carlo Tondini Chiara Corna Bernardo Bonanni Monica Barile Ana Osorio Javier Benitez Luisa Balestrino Laura Ottini Siranoush Manoukian Marco A Pierotti Alessandra Renieri Liliana Varesco Fergus J Couch Xianshu Wang Peter Devilee Florentine S Hilbers Christi J van Asperen Alessandra Viel Marco Montagna Laura Cortesi Orland Diez Judith Balmaña Jan Hauke Rita K Schmutzler Laura Papi Miguel Angel Pujana Conxi Lázaro Anna Falanga Kenneth Offit Joseph Vijai Ian Campbell Barbara Burwinkel Anders Kvist Hans Ehrencrona Sylvie Mazoyer Sara Pizzamiglio Paolo Verderio Jordi Surralles Peter K Rogan Paolo Radice

Hum Mol Genet 2015 Sep 30;24(18):5345-55. Epub 2015 Jun 30.

IFOM, the FIRC Institute of Molecular Oncology, Milan, Italy, Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine.

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http://dx.doi.org/10.1093/hmg/ddv251DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4550823PMC
September 2015

Concomitant mutation and epimutation of the MLH1 gene in a Lynch syndrome family.

Carcinogenesis 2015 Apr 5;36(4):452-8. Epub 2015 Mar 5.

Experimental Oncology 1, CRO Aviano, National Cancer Institute, 33081 Aviano (PN), Italy.

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April 2015

Identification of six new susceptibility loci for invasive epithelial ovarian cancer.

Authors:
Karoline B Kuchenbaecker Susan J Ramus Jonathan Tyrer Andrew Lee Howard C Shen Jonathan Beesley Kate Lawrenson Lesley McGuffog Sue Healey Janet M Lee Tassja J Spindler Yvonne G Lin Tanja Pejovic Yukie Bean Qiyuan Li Simon Coetzee Dennis Hazelett Alexander Miron Melissa Southey Mary Beth Terry David E Goldgar Saundra S Buys Ramunas Janavicius Cecilia M Dorfling Elizabeth J van Rensburg Susan L Neuhausen Yuan Chun Ding Thomas V O Hansen Lars Jønson Anne-Marie Gerdes Bent Ejlertsen Daniel Barrowdale Joe Dennis Javier Benitez Ana Osorio Maria Jose Garcia Ian Komenaka Jeffrey N Weitzel Pamela Ganschow Paolo Peterlongo Loris Bernard Alessandra Viel Bernardo Bonanni Bernard Peissel Siranoush Manoukian Paolo Radice Laura Papi Laura Ottini Florentia Fostira Irene Konstantopoulou Judy Garber Debra Frost Jo Perkins Radka Platte Steve Ellis Andrew K Godwin Rita Katharina Schmutzler Alfons Meindl Christoph Engel Christian Sutter Olga M Sinilnikova Francesca Damiola Sylvie Mazoyer Dominique Stoppa-Lyonnet Kathleen Claes Kim De Leeneer Judy Kirk Gustavo C Rodriguez Marion Piedmonte David M O'Malley Miguel de la Hoya Trinidad Caldes Kristiina Aittomäki Heli Nevanlinna J Margriet Collée Matti A Rookus Jan C Oosterwijk Laima Tihomirova Nadine Tung Ute Hamann Claudine Isaccs Marc Tischkowitz Evgeny N Imyanitov Maria A Caligo Ian G Campbell Frans B L Hogervorst Edith Olah Orland Diez Ignacio Blanco Joan Brunet Conxi Lazaro Miquel Angel Pujana Anna Jakubowska Jacek Gronwald Jan Lubinski Grzegorz Sukiennicki Rosa B Barkardottir Marie Plante Jacques Simard Penny Soucy Marco Montagna Silvia Tognazzo Manuel R Teixeira Vernon S Pankratz Xianshu Wang Noralane Lindor Csilla I Szabo Noah Kauff Joseph Vijai Carol A Aghajanian Georg Pfeiler Andreas Berger Christian F Singer Muy-Kheng Tea Catherine M Phelan Mark H Greene Phuong L Mai Gad Rennert Anna Marie Mulligan Sandrine Tchatchou Irene L Andrulis Gord Glendon Amanda Ewart Toland Uffe Birk Jensen Torben A Kruse Mads Thomassen Anders Bojesen Jamal Zidan Eitan Friedman Yael Laitman Maria Soller Annelie Liljegren Brita Arver Zakaria Einbeigi Marie Stenmark-Askmalm Olufunmilayo I Olopade Robert L Nussbaum Timothy R Rebbeck Katherine L Nathanson Susan M Domchek Karen H Lu Beth Y Karlan Christine Walsh Jenny Lester Alexander Hein Arif B Ekici Matthias W Beckmann Peter A Fasching Diether Lambrechts Els Van Nieuwenhuysen Ignace Vergote Sandrina Lambrechts Ed Dicks Jennifer A Doherty Kristine G Wicklund Mary Anne Rossing Anja Rudolph Jenny Chang-Claude Shan Wang-Gohrke Ursula Eilber Kirsten B Moysich Kunle Odunsi Lara Sucheston Shashi Lele Lynne R Wilkens Marc T Goodman Pamela J Thompson Yurii B Shvetsov Ingo B Runnebaum Matthias Dürst Peter Hillemanns Thilo Dörk Natalia Antonenkova Natalia Bogdanova Arto Leminen Liisa M Pelttari Ralf Butzow Francesmary Modugno Joseph L Kelley Robert P Edwards Roberta B Ness Andreas du Bois Florian Heitz Ira Schwaab Philipp Harter Keitaro Matsuo Satoyo Hosono Sandra Orsulic Allan Jensen Susanne Kruger Kjaer Estrid Hogdall Hanis Nazihah Hasmad Mat Adenan Noor Azmi Soo-Hwang Teo Yin-Ling Woo Brooke L Fridley Ellen L Goode Julie M Cunningham Robert A Vierkant Fiona Bruinsma Graham G Giles Dong Liang Michelle A T Hildebrandt Xifeng Wu Douglas A Levine Maria Bisogna Andrew Berchuck Edwin S Iversen Joellen M Schildkraut Patrick Concannon Rachel Palmieri Weber Daniel W Cramer Kathryn L Terry Elizabeth M Poole Shelley S Tworoger Elisa V Bandera Irene Orlow Sara H Olson Camilla Krakstad Helga B Salvesen Ingvild L Tangen Line Bjorge Anne M van Altena Katja K H Aben Lambertus A Kiemeney Leon F A G Massuger Melissa Kellar Angela Brooks-Wilson Linda E Kelemen Linda S Cook Nhu D Le Cezary Cybulski Hannah Yang Jolanta Lissowska Louise A Brinton Nicolas Wentzensen Claus Hogdall Lene Lundvall Lotte Nedergaard Helen Baker Honglin Song Diana Eccles Ian McNeish James Paul Karen Carty Nadeem Siddiqui Rosalind Glasspool Alice S Whittemore Joseph H Rothstein Valerie McGuire Weiva Sieh Bu-Tian Ji Wei Zheng Xiao-Ou Shu Yu-Tang Gao Barry Rosen Harvey A Risch John R McLaughlin Steven A Narod Alvaro N Monteiro Ann Chen Hui-Yi Lin Jenny Permuth-Wey Thomas A Sellers Ya-Yu Tsai Zhihua Chen Argyrios Ziogas Hoda Anton-Culver Aleksandra Gentry-Maharaj Usha Menon Patricia Harrington Alice W Lee Anna H Wu Celeste L Pearce Gerry Coetzee Malcolm C Pike Agnieszka Dansonka-Mieszkowska Agnieszka Timorek Iwona K Rzepecka Jolanta Kupryjanczyk Matt Freedman Houtan Noushmehr Douglas F Easton Kenneth Offit Fergus J Couch Simon Gayther Paul P Pharoah Antonis C Antoniou Georgia Chenevix-Trench

Nat Genet 2015 Feb 12;47(2):164-71. Epub 2015 Jan 12.

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4445140PMC
February 2015

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.

Authors:
Paolo Peterlongo Jenny Chang-Claude Kirsten B Moysich Anja Rudolph Rita K Schmutzler Jacques Simard Penny Soucy Rosalind A Eeles Douglas F Easton Ute Hamann Stefan Wilkening Bowang Chen Matti A Rookus Marjanka K Schmidt Frederieke H van der Baan Amanda B Spurdle Logan C Walker Felicity Lose Ana-Teresa Maia Marco Montagna Laura Matricardi Jan Lubinski Anna Jakubowska Encarna B Gómez Garcia Olufunmilayo I Olopade Robert L Nussbaum Katherine L Nathanson Susan M Domchek Timothy R Rebbeck Banu K Arun Beth Y Karlan Sandra Orsulic Jenny Lester Wendy K Chung Alex Miron Melissa C Southey David E Goldgar Saundra S Buys Ramunas Janavicius Cecilia M Dorfling Elizabeth J van Rensburg Yuan Chun Ding Susan L Neuhausen Thomas V O Hansen Anne-Marie Gerdes Bent Ejlertsen Lars Jønson Ana Osorio Cristina Martínez-Bouzas Javier Benitez Edye E Conway Kathleen R Blazer Jeffrey N Weitzel Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Giulietta Scuvera Monica Barile Filomena Ficarazzi Frederique Mariette Stefano Fortuzzi Alessandra Viel Giuseppe Giannini Laura Papi Aline Martayan Maria Grazia Tibiletti Paolo Radice Athanassios Vratimos Florentia Fostira Judy E Garber Alan Donaldson Carole Brewer Claire Foo D Gareth R Evans Debra Frost Diana Eccles Angela Brady Jackie Cook Marc Tischkowitz Julian Adlard Julian Barwell Lisa Walker Louise Izatt Lucy E Side M John Kennedy Mark T Rogers Mary E Porteous Patrick J Morrison Radka Platte Rosemarie Davidson Shirley V Hodgson Steve Ellis Trevor Cole Andrew K Godwin Kathleen Claes Tom Van Maerken Alfons Meindl Andrea Gehrig Christian Sutter Christoph Engel Dieter Niederacher Doris Steinemann Hansjoerg Plendl Karin Kast Kerstin Rhiem Nina Ditsch Norbert Arnold Raymonda Varon-Mateeva Barbara Wappenschmidt Shan Wang-Gohrke Brigitte Bressac-de Paillerets Bruno Buecher Capucine Delnatte Claude Houdayer Dominique Stoppa-Lyonnet Francesca Damiola Isabelle Coupier Laure Barjhoux Laurence Venat-Bouvet Lisa Golmard Nadia Boutry-Kryza Olga M Sinilnikova Olivier Caron Pascal Pujol Sylvie Mazoyer Muriel Belotti Marion Piedmonte Michael L Friedlander Gustavo C Rodriguez Larry J Copeland Miguel de la Hoya Pedro Perez Segura Heli Nevanlinna Kristiina Aittomäki Theo A M van Os Hanne E J Meijers-Heijboer Annemarie H van der Hout Maaike P G Vreeswijk Nicoline Hoogerbrugge Margreet G E M Ausems Helena C van Doorn J Margriet Collée Edith Olah Orland Diez Ignacio Blanco Conxi Lazaro Joan Brunet Lidia Feliubadalo Cezary Cybulski Jacek Gronwald Katarzyna Durda Katarzyna Jaworska-Bieniek Grzegorz Sukiennicki Adalgeir Arason Jocelyne Chiquette Manuel R Teixeira Curtis Olswold Fergus J Couch Noralane M Lindor Xianshu Wang Csilla I Szabo Kenneth Offit Marina Corines Lauren Jacobs Mark E Robson Liying Zhang Vijai Joseph Andreas Berger Christian F Singer Christine Rappaport Daphne Geschwantler Kaulich Georg Pfeiler Muy-Kheng M Tea Catherine M Phelan Mark H Greene Phuong L Mai Gad Rennert Anna Marie Mulligan Gord Glendon Sandrine Tchatchou Irene L Andrulis Amanda Ewart Toland Anders Bojesen Inge Sokilde Pedersen Mads Thomassen Uffe Birk Jensen Yael Laitman Johanna Rantala Anna von Wachenfeldt Hans Ehrencrona Marie Stenmark Askmalm Åke Borg Karoline B Kuchenbaecker Lesley McGuffog Daniel Barrowdale Sue Healey Andrew Lee Paul D P Pharoah Georgia Chenevix-Trench Antonis C Antoniou Eitan Friedman

Cancer Epidemiol Biomarkers Prev 2015 Jan 21;24(1):308-16. Epub 2014 Oct 21.

Sheba Medical Center, Tel Aviv, Israel.

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http://dx.doi.org/10.1158/1055-9965.EPI-14-0532DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4294951PMC
January 2015

Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia.

Authors:
Amanda B Spurdle Fergus J Couch Michael T Parsons Lesley McGuffog Daniel Barrowdale Manjeet K Bolla Qin Wang Sue Healey Rita Schmutzler Barbara Wappenschmidt Kerstin Rhiem Eric Hahnen Christoph Engel Alfons Meindl Nina Ditsch Norbert Arnold Hansjoerg Plendl Dieter Niederacher Christian Sutter Shan Wang-Gohrke Doris Steinemann Sabine Preisler-Adams Karin Kast Raymonda Varon-Mateeva Steve Ellis Debra Frost Radka Platte Jo Perkins D Gareth Evans Louise Izatt Ros Eeles Julian Adlard Rosemarie Davidson Trevor Cole Giulietta Scuvera Siranoush Manoukian Bernardo Bonanni Frederique Mariette Stefano Fortuzzi Alessandra Viel Barbara Pasini Laura Papi Liliana Varesco Rosemary Balleine Katherine L Nathanson Susan M Domchek Kenneth Offitt Anna Jakubowska Noralane Lindor Mads Thomassen Uffe Birk Jensen Johanna Rantala Åke Borg Irene L Andrulis Alexander Miron Thomas V O Hansen Trinidad Caldes Susan L Neuhausen Amanda E Toland Heli Nevanlinna Marco Montagna Judy Garber Andrew K Godwin Ana Osorio Rachel E Factor Mary B Terry Timothy R Rebbeck Beth Y Karlan Melissa Southey Muhammad Usman Rashid Nadine Tung Paul D P Pharoah Fiona M Blows Alison M Dunning Elena Provenzano Per Hall Kamila Czene Marjanka K Schmidt Annegien Broeks Sten Cornelissen Senno Verhoef Peter A Fasching Matthias W Beckmann Arif B Ekici Dennis J Slamon Stig E Bojesen Børge G Nordestgaard Sune F Nielsen Henrik Flyger Jenny Chang-Claude Dieter Flesch-Janys Anja Rudolph Petra Seibold Kristiina Aittomäki Taru A Muranen Päivi Heikkilä Carl Blomqvist Jonine Figueroa Stephen J Chanock Louise Brinton Jolanta Lissowska Janet E Olson Vernon S Pankratz Esther M John Alice S Whittemore Dee W West Ute Hamann Diana Torres Hans Ulrich Ulmer Thomas Rüdiger Peter Devilee Robert A E M Tollenaar Caroline Seynaeve Christi J Van Asperen Diana M Eccles William J Tapper Lorraine Durcan Louise Jones Julian Peto Isabel dos-Santos-Silva Olivia Fletcher Nichola Johnson Miriam Dwek Ruth Swann Anita L Bane Gord Glendon Anna M Mulligan Graham G Giles Roger L Milne Laura Baglietto Catriona McLean Jane Carpenter Christine Clarke Rodney Scott Hiltrud Brauch Thomas Brüning Yon-Dschun Ko Angela Cox Simon S Cross Malcolm W R Reed Jan Lubinski Katarzyna Jaworska-Bieniek Katarzyna Durda Jacek Gronwald Thilo Dörk Natalia Bogdanova Tjoung-Won Park-Simon Peter Hillemanns Christopher A Haiman Brian E Henderson Fredrick Schumacher Loic Le Marchand Barbara Burwinkel Frederik Marme Harald Surovy Rongxi Yang Hoda Anton-Culver Argyrios Ziogas Maartje J Hooning J Margriet Collée John W M Martens Madeleine M A Tilanus-Linthorst Hermann Brenner Aida Karina Dieffenbach Volke Arndt Christa Stegmaier Robert Winqvist Katri Pylkäs Arja Jukkola-Vuorinen Mervi Grip Annika Lindblom Sara Margolin Vijai Joseph Mark Robson Rohini Rau-Murthy Anna González-Neira José Ignacio Arias Pilar Zamora Javier Benítez Arto Mannermaa Vesa Kataja Veli-Matti Kosma Jaana M Hartikainen Paolo Peterlongo Daniela Zaffaroni Monica Barile Fabio Capra Paolo Radice Soo H Teo Douglas F Easton Antonis C Antoniou Georgia Chenevix-Trench David E Goldgar

Breast Cancer Res 2014 Dec 23;16(6):3419. Epub 2014 Dec 23.

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http://dx.doi.org/10.1186/s13058-014-0474-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352262PMC
December 2014

DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers.

Authors:
Ana Osorio Roger L Milne Karoline Kuchenbaecker Tereza Vaclová Guillermo Pita Rosario Alonso Paolo Peterlongo Ignacio Blanco Miguel de la Hoya Mercedes Duran Orland Díez Teresa Ramón Y Cajal Irene Konstantopoulou Cristina Martínez-Bouzas Raquel Andrés Conejero Penny Soucy Lesley McGuffog Daniel Barrowdale Andrew Lee Swe-Brca Brita Arver Johanna Rantala Niklas Loman Hans Ehrencrona Olufunmilayo I Olopade Mary S Beattie Susan M Domchek Katherine Nathanson Timothy R Rebbeck Banu K Arun Beth Y Karlan Christine Walsh Jenny Lester Esther M John Alice S Whittemore Mary B Daly Melissa Southey John Hopper Mary B Terry Saundra S Buys Ramunas Janavicius Cecilia M Dorfling Elizabeth J van Rensburg Linda Steele Susan L Neuhausen Yuan Chun Ding Thomas V O Hansen Lars Jønson Bent Ejlertsen Anne-Marie Gerdes Mar Infante Belén Herráez Leticia Thais Moreno Jeffrey N Weitzel Josef Herzog Kisa Weeman Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Giulietta Scuvera Bernardo Bonanni Frederique Mariette Sara Volorio Alessandra Viel Liliana Varesco Laura Papi Laura Ottini Maria Grazia Tibiletti Paolo Radice Drakoulis Yannoukakos Judy Garber Steve Ellis Debra Frost Radka Platte Elena Fineberg Gareth Evans Fiona Lalloo Louise Izatt Ros Eeles Julian Adlard Rosemarie Davidson Trevor Cole Diana Eccles Jackie Cook Shirley Hodgson Carole Brewer Marc Tischkowitz Fiona Douglas Mary Porteous Lucy Side Lisa Walker Patrick Morrison Alan Donaldson John Kennedy Claire Foo Andrew K Godwin Rita Katharina Schmutzler Barbara Wappenschmidt Kerstin Rhiem Christoph Engel Alfons Meindl Nina Ditsch Norbert Arnold Hans Jörg Plendl Dieter Niederacher Christian Sutter Shan Wang-Gohrke Doris Steinemann Sabine Preisler-Adams Karin Kast Raymonda Varon-Mateeva Andrea Gehrig Dominique Stoppa-Lyonnet Olga M Sinilnikova Sylvie Mazoyer Francesca Damiola Bruce Poppe Kathleen Claes Marion Piedmonte Kathy Tucker Floor Backes Gustavo Rodríguez Wendy Brewster Katie Wakeley Thomas Rutherford Trinidad Caldés Heli Nevanlinna Kristiina Aittomäki Matti A Rookus Theo A M van Os Lizet van der Kolk J L de Lange Hanne E J Meijers-Heijboer A H van der Hout Christi J van Asperen Encarna B Gómez Garcia Nicoline Hoogerbrugge J Margriet Collée Carolien H M van Deurzen Rob B van der Luijt Peter Devilee Hebon Edith Olah Conxi Lázaro Alex Teulé Mireia Menéndez Anna Jakubowska Cezary Cybulski Jacek Gronwald Jan Lubinski Katarzyna Durda Katarzyna Jaworska-Bieniek Oskar Th Johannsson Christine Maugard Marco Montagna Silvia Tognazzo Manuel R Teixeira Sue Healey Kconfab Investigators Curtis Olswold Lucia Guidugli Noralane Lindor Susan Slager Csilla I Szabo Joseph Vijai Mark Robson Noah Kauff Liying Zhang Rohini Rau-Murthy Anneliese Fink-Retter Christian F Singer Christine Rappaport Daphne Geschwantler Kaulich Georg Pfeiler Muy-Kheng Tea Andreas Berger Catherine M Phelan Mark H Greene Phuong L Mai Flavio Lejbkowicz Irene Andrulis Anna Marie Mulligan Gord Glendon Amanda Ewart Toland Anders Bojesen Inge Sokilde Pedersen Lone Sunde Mads Thomassen Torben A Kruse Uffe Birk Jensen Eitan Friedman Yael Laitman Shani Paluch Shimon Jacques Simard Douglas F Easton Kenneth Offit Fergus J Couch Georgia Chenevix-Trench Antonis C Antoniou Javier Benitez

PLoS Genet 2014 Apr 3;10(4):e1004256. Epub 2014 Apr 3.

Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain; Biomedical Network on Rare Diseases (CIBERER), Madrid, Spain; Genotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain.

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http://dx.doi.org/10.1371/journal.pgen.1004256DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3974638PMC
April 2014

Role of MUTYH in human cancer.

Mutat Res 2013 Mar-Apr;743-744:33-43. Epub 2013 Mar 16.

Department of Environment, Istituto Superiore di Sanità, Roma, Italy.

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http://dx.doi.org/10.1016/j.mrfmmm.2013.03.003DOI Listing
September 2013

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.

Authors:
Fergus J Couch Xianshu Wang Lesley McGuffog Andrew Lee Curtis Olswold Karoline B Kuchenbaecker Penny Soucy Zachary Fredericksen Daniel Barrowdale Joe Dennis Mia M Gaudet Ed Dicks Matthew Kosel Sue Healey Olga M Sinilnikova Adam Lee François Bacot Daniel Vincent Frans B L Hogervorst Susan Peock Dominique Stoppa-Lyonnet Anna Jakubowska Paolo Radice Rita Katharina Schmutzler Susan M Domchek Marion Piedmonte Christian F Singer Eitan Friedman Mads Thomassen Thomas V O Hansen Susan L Neuhausen Csilla I Szabo Ignacio Blanco Mark H Greene Beth Y Karlan Judy Garber Catherine M Phelan Jeffrey N Weitzel Marco Montagna Edith Olah Irene L Andrulis Andrew K Godwin Drakoulis Yannoukakos David E Goldgar Trinidad Caldes Heli Nevanlinna Ana Osorio Mary Beth Terry Mary B Daly Elizabeth J van Rensburg Ute Hamann Susan J Ramus Amanda Ewart Toland Maria A Caligo Olufunmilayo I Olopade Nadine Tung Kathleen Claes Mary S Beattie Melissa C Southey Evgeny N Imyanitov Marc Tischkowitz Ramunas Janavicius Esther M John Ava Kwong Orland Diez Judith Balmaña Rosa B Barkardottir Banu K Arun Gad Rennert Soo-Hwang Teo Patricia A Ganz Ian Campbell Annemarie H van der Hout Carolien H M van Deurzen Caroline Seynaeve Encarna B Gómez Garcia Flora E van Leeuwen Hanne E J Meijers-Heijboer Johannes J P Gille Margreet G E M Ausems Marinus J Blok Marjolijn J L Ligtenberg Matti A Rookus Peter Devilee Senno Verhoef Theo A M van Os Juul T Wijnen Debra Frost Steve Ellis Elena Fineberg Radka Platte D Gareth Evans Louise Izatt Rosalind A Eeles Julian Adlard Diana M Eccles Jackie Cook Carole Brewer Fiona Douglas Shirley Hodgson Patrick J Morrison Lucy E Side Alan Donaldson Catherine Houghton Mark T Rogers Huw Dorkins Jacqueline Eason Helen Gregory Emma McCann Alex Murray Alain Calender Agnès Hardouin Pascaline Berthet Capucine Delnatte Catherine Nogues Christine Lasset Claude Houdayer Dominique Leroux Etienne Rouleau Fabienne Prieur Francesca Damiola Hagay Sobol Isabelle Coupier Laurence Venat-Bouvet Laurent Castera Marion Gauthier-Villars Mélanie Léoné Pascal Pujol Sylvie Mazoyer Yves-Jean Bignon Elżbieta Złowocka-Perłowska Jacek Gronwald Jan Lubinski Katarzyna Durda Katarzyna Jaworska Tomasz Huzarski Amanda B Spurdle Alessandra Viel Bernard Peissel Bernardo Bonanni Giulia Melloni Laura Ottini Laura Papi Liliana Varesco Maria Grazia Tibiletti Paolo Peterlongo Sara Volorio Siranoush Manoukian Valeria Pensotti Norbert Arnold Christoph Engel Helmut Deissler Dorothea Gadzicki Andrea Gehrig Karin Kast Kerstin Rhiem Alfons Meindl Dieter Niederacher Nina Ditsch Hansjoerg Plendl Sabine Preisler-Adams Stefanie Engert Christian Sutter Raymonda Varon-Mateeva Barbara Wappenschmidt Bernhard H F Weber Brita Arver Marie Stenmark-Askmalm Niklas Loman Richard Rosenquist Zakaria Einbeigi Katherine L Nathanson Timothy R Rebbeck Stephanie V Blank David E Cohn Gustavo C Rodriguez Laurie Small Michael Friedlander Victoria L Bae-Jump Anneliese Fink-Retter Christine Rappaport Daphne Gschwantler-Kaulich Georg Pfeiler Muy-Kheng Tea Noralane M Lindor Bella Kaufman Shani Shimon Paluch Yael Laitman Anne-Bine Skytte Anne-Marie Gerdes Inge Sokilde Pedersen Sanne Traasdahl Moeller Torben A Kruse Uffe Birk Jensen Joseph Vijai Kara Sarrel Mark Robson Noah Kauff Anna Marie Mulligan Gord Glendon Hilmi Ozcelik Bent Ejlertsen Finn C Nielsen Lars Jønson Mette K Andersen Yuan Chun Ding Linda Steele Lenka Foretova Alex Teulé Conxi Lazaro Joan Brunet Miquel Angel Pujana Phuong L Mai Jennifer T Loud Christine Walsh Jenny Lester Sandra Orsulic Steven A Narod Josef Herzog Sharon R Sand Silvia Tognazzo Simona Agata Tibor Vaszko Joellen Weaver Alexandra V Stavropoulou Saundra S Buys Atocha Romero Miguel de la Hoya Kristiina Aittomäki Taru A Muranen Mercedes Duran Wendy K Chung Adriana Lasa Cecilia M Dorfling Alexander Miron Javier Benitez Leigha Senter Dezheng Huo Salina B Chan Anna P Sokolenko Jocelyne Chiquette Laima Tihomirova Tara M Friebel Bjarni A Agnarsson Karen H Lu Flavio Lejbkowicz Paul A James Per Hall Alison M Dunning Daniel Tessier Julie Cunningham Susan L Slager Chen Wang Steven Hart Kristen Stevens Jacques Simard Tomi Pastinen Vernon S Pankratz Kenneth Offit Douglas F Easton Georgia Chenevix-Trench Antonis C Antoniou

PLoS Genet 2013 27;9(3):e1003212. Epub 2013 Mar 27.

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

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http://dx.doi.org/10.1371/journal.pgen.1003212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3609646PMC
June 2013

Factors affecting the treatment of multiple colorectal adenomas.

Surg Endosc 2013 Jan 7;27(1):207-13. Epub 2012 Jul 7.

Dipartimento di Scienze Chirurgiche, Oncologiche e Gastroenterologiche, Azienda Ospedaliera University of Padova, Padova, Italy.

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http://dx.doi.org/10.1007/s00464-012-2421-2DOI Listing
January 2013

Risk analysis of colorectal cancer in women with endometrial carcinoma.

Mol Med Rep 2008 Jul-Aug;1(4):549-53

Gastroenterology Unit, Centro di Riferimento Oncologico, IRCCS, I-33081 Aviano (PN), Italy.

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October 2012

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.

Authors:
Anna Marie Mulligan Fergus J Couch Daniel Barrowdale Susan M Domchek Diana Eccles Heli Nevanlinna Susan J Ramus Mark Robson Mark Sherman Amanda B Spurdle Barbara Wappenschmidt Andrew Lee Lesley McGuffog Sue Healey Olga M Sinilnikova Ramunas Janavicius Thomas vO Hansen Finn C Nielsen Bent Ejlertsen Ana Osorio Iván Muñoz-Repeto Mercedes Durán Javier Godino Maroulio Pertesi Javier Benítez Paolo Peterlongo Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Elisa Cattaneo Bernardo Bonanni Alessandra Viel Barbara Pasini Laura Papi Laura Ottini Antonella Savarese Loris Bernard Paolo Radice Ute Hamann Martijn Verheus Hanne E J Meijers-Heijboer Juul Wijnen Encarna B Gómez García Marcel R Nelen C Marleen Kets Caroline Seynaeve Madeleine M A Tilanus-Linthorst Rob B van der Luijt Theo van Os Matti Rookus Debra Frost J Louise Jones D Gareth Evans Fiona Lalloo Ros Eeles Louise Izatt Julian Adlard Rosemarie Davidson Jackie Cook Alan Donaldson Huw Dorkins Helen Gregory Jacqueline Eason Catherine Houghton Julian Barwell Lucy E Side Emma McCann Alex Murray Susan Peock Andrew K Godwin Rita K Schmutzler Kerstin Rhiem Christoph Engel Alfons Meindl Ina Ruehl Norbert Arnold Dieter Niederacher Christian Sutter Helmut Deissler Dorothea Gadzicki Karin Kast Sabine Preisler-Adams Raymonda Varon-Mateeva Ines Schoenbuchner Britta Fiebig Wolfram Heinritz Dieter Schäfer Heidrun Gevensleben Virginie Caux-Moncoutier Marion Fassy-Colcombet François Cornelis Sylvie Mazoyer Mélanie Léoné Nadia Boutry-Kryza Agnès Hardouin Pascaline Berthet Danièle Muller Jean-Pierre Fricker Isabelle Mortemousque Pascal Pujol Isabelle Coupier Marine Lebrun Caroline Kientz Michel Longy Nicolas Sevenet Dominique Stoppa-Lyonnet Claudine Isaacs Trinidad Caldes Miguel de la Hoya Tuomas Heikkinen Kristiina Aittomäki Ignacio Blanco Conxi Lazaro Rosa B Barkardottir Penny Soucy Martine Dumont Jacques Simard Marco Montagna Silvia Tognazzo Emma D'Andrea Stephen Fox Max Yan Tim Rebbeck Olufunmilayo Olopade Jeffrey N Weitzel Henry T Lynch Patricia A Ganz Gail E Tomlinson Xianshu Wang Zachary Fredericksen Vernon S Pankratz Noralane M Lindor Csilla Szabo Kenneth Offit Rita Sakr Mia Gaudet Jasmine Bhatia Noah Kauff Christian F Singer Muy-Kheng Tea Daphne Gschwantler-Kaulich Anneliese Fink-Retter Phuong L Mai Mark H Greene Evgeny Imyanitov Frances P O'Malley Hilmi Ozcelik Gordon Glendon Amanda E Toland Anne-Marie Gerdes Mads Thomassen Torben A Kruse Uffe Birk Jensen Anne-Bine Skytte Maria A Caligo Maria Soller Karin Henriksson von Anna Wachenfeldt Brita Arver Marie Stenmark-Askmalm Per Karlsson Yuan Chun Ding Susan L Neuhausen Mary Beattie Paul D P Pharoah Kirsten B Moysich Katherine L Nathanson Beth Y Karlan Jenny Gross Esther M John Mary B Daly Saundra M Buys Melissa C Southey John L Hopper Mary Beth Terry Wendy Chung Alexander F Miron David Goldgar Georgia Chenevix-Trench Douglas F Easton Irene L Andrulis Antonis C Antoniou

Breast Cancer Res 2011 2;13(6):R110. Epub 2011 Nov 2.

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, 2 Worts Causeway, Cambridge, CB1 8RN, UK.

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http://dx.doi.org/10.1186/bcr3052DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3326552PMC
June 2012

An American founder mutation in MLH1.

Int J Cancer 2012 May 30;130(9):2088-95. Epub 2011 Aug 30.

Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, OH 43210, USA.

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http://dx.doi.org/10.1002/ijc.26233DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3266960PMC
May 2012

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.

Authors:
Fergus J Couch Mia M Gaudet Antonis C Antoniou Susan J Ramus Karoline B Kuchenbaecker Penny Soucy Jonathan Beesley Xiaoqing Chen Xianshu Wang Tomas Kirchhoff Lesley McGuffog Daniel Barrowdale Andrew Lee Sue Healey Olga M Sinilnikova Irene L Andrulis Hilmi Ozcelik Anna Marie Mulligan Mads Thomassen Anne-Marie Gerdes Uffe Birk Jensen Anne-Bine Skytte Torben A Kruse Maria A Caligo Anna von Wachenfeldt Gisela Barbany-Bustinza Niklas Loman Maria Soller Hans Ehrencrona Per Karlsson Katherine L Nathanson Timothy R Rebbeck Susan M Domchek Ania Jakubowska Jan Lubinski Katarzyna Jaworska Katarzyna Durda Elzbieta Zlowocka Tomasz Huzarski Tomasz Byrski Jacek Gronwald Cezary Cybulski Bohdan Górski Ana Osorio Mercedes Durán María Isabel Tejada Javier Benitez Ute Hamann Frans B L Hogervorst Theo A van Os Flora E van Leeuwen Hanne E J Meijers-Heijboer Juul Wijnen Marinus J Blok Marleen Kets Maartje J Hooning Rogier A Oldenburg Margreet G E M Ausems Susan Peock Debra Frost Steve D Ellis Radka Platte Elena Fineberg D Gareth Evans Chris Jacobs Rosalind A Eeles Julian Adlard Rosemarie Davidson Diana M Eccles Trevor Cole Jackie Cook Joan Paterson Carole Brewer Fiona Douglas Shirley V Hodgson Patrick J Morrison Lisa Walker Mary E Porteous M John Kennedy Lucy E Side Betsy Bove Andrew K Godwin Dominique Stoppa-Lyonnet Marion Fassy-Colcombet Laurent Castera François Cornelis Sylvie Mazoyer Mélanie Léoné Nadia Boutry-Kryza Brigitte Bressac-de Paillerets Olivier Caron Pascal Pujol Isabelle Coupier Capucine Delnatte Linda Akloul Henry T Lynch Carrie L Snyder Saundra S Buys Mary B Daly Marybeth Terry Wendy K Chung Esther M John Alexander Miron Melissa C Southey John L Hopper David E Goldgar Christian F Singer Christine Rappaport Muy-Kheng M Tea Anneliese Fink-Retter Thomas V O Hansen Finn C Nielsen Aðalgeir Arason Joseph Vijai Sohela Shah Kara Sarrel Mark E Robson Marion Piedmonte Kelly Phillips Jack Basil Wendy S Rubinstein John Boggess Katie Wakeley Amanda Ewart-Toland Marco Montagna Simona Agata Evgeny N Imyanitov Claudine Isaacs Ramunas Janavicius Conxi Lazaro Ignacio Blanco Lidia Feliubadalo Joan Brunet Simon A Gayther Paul P D Pharoah Kunle O Odunsi Beth Y Karlan Christine S Walsh Edith Olah Soo Hwang Teo Patricia A Ganz Mary S Beattie Elizabeth J van Rensburg Cecelia M Dorfling Orland Diez Ava Kwong Rita K Schmutzler Barbara Wappenschmidt Christoph Engel Alfons Meindl Nina Ditsch Norbert Arnold Simone Heidemann Dieter Niederacher Sabine Preisler-Adams Dorothea Gadzicki Raymonda Varon-Mateeva Helmut Deissler Andrea Gehrig Christian Sutter Karin Kast Britta Fiebig Wolfram Heinritz Trinidad Caldes Miguel de la Hoya Taru A Muranen Heli Nevanlinna Marc D Tischkowitz Amanda B Spurdle Susan L Neuhausen Yuan Chun Ding Noralane M Lindor Zachary Fredericksen V Shane Pankratz Paolo Peterlongo Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Monica Barile Loris Bernard Alessandra Viel Giuseppe Giannini Liliana Varesco Paolo Radice Mark H Greene Phuong L Mai Douglas F Easton Georgia Chenevix-Trench Kenneth Offit Jacques Simard

Cancer Epidemiol Biomarkers Prev 2012 Apr 20;21(4):645-57. Epub 2012 Feb 20.

Departments of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1158/1055-9965.EPI-11-0888DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3319317PMC
April 2012

Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer.

Authors:
Christopher A Maxwell Javier Benítez Laia Gómez-Baldó Ana Osorio Núria Bonifaci Ricardo Fernández-Ramires Sylvain V Costes Elisabet Guinó Helen Chen Gareth J R Evans Pooja Mohan Isabel Català Anna Petit Helena Aguilar Alberto Villanueva Alvaro Aytes Jordi Serra-Musach Gad Rennert Flavio Lejbkowicz Paolo Peterlongo Siranoush Manoukian Bernard Peissel Carla B Ripamonti Bernardo Bonanni Alessandra Viel Anna Allavena Loris Bernard Paolo Radice Eitan Friedman Bella Kaufman Yael Laitman Maya Dubrovsky Roni Milgrom Anna Jakubowska Cezary Cybulski Bohdan Gorski Katarzyna Jaworska Katarzyna Durda Grzegorz Sukiennicki Jan Lubiński Yin Yao Shugart Susan M Domchek Richard Letrero Barbara L Weber Frans B L Hogervorst Matti A Rookus J Margriet Collee Peter Devilee Marjolijn J Ligtenberg Rob B van der Luijt Cora M Aalfs Quinten Waisfisz Juul Wijnen Cornelis E P van Roozendaal Douglas F Easton Susan Peock Margaret Cook Clare Oliver Debra Frost Patricia Harrington D Gareth Evans Fiona Lalloo Rosalind Eeles Louise Izatt Carol Chu Diana Eccles Fiona Douglas Carole Brewer Heli Nevanlinna Tuomas Heikkinen Fergus J Couch Noralane M Lindor Xianshu Wang Andrew K Godwin Maria A Caligo Grazia Lombardi Niklas Loman Per Karlsson Hans Ehrencrona Anna von Wachenfeldt Rosa Bjork Barkardottir Ute Hamann Muhammad U Rashid Adriana Lasa Trinidad Caldés Raquel Andrés Michael Schmitt Volker Assmann Kristen Stevens Kenneth Offit João Curado Hagen Tilgner Roderic Guigó Gemma Aiza Joan Brunet Joan Castellsagué Griselda Martrat Ander Urruticoechea Ignacio Blanco Laima Tihomirova David E Goldgar Saundra Buys Esther M John Alexander Miron Melissa Southey Mary B Daly Rita K Schmutzler Barbara Wappenschmidt Alfons Meindl Norbert Arnold Helmut Deissler Raymonda Varon-Mateeva Christian Sutter Dieter Niederacher Evgeny Imyamitov Olga M Sinilnikova Dominique Stoppa-Lyonne Sylvie Mazoyer Carole Verny-Pierre Laurent Castera Antoine de Pauw Yves-Jean Bignon Nancy Uhrhammer Jean-Philippe Peyrat Philippe Vennin Sandra Fert Ferrer Marie-Agnès Collonge-Rame Isabelle Mortemousque Amanda B Spurdle Jonathan Beesley Xiaoqing Chen Sue Healey Mary Helen Barcellos-Hoff Marc Vidal Stephen B Gruber Conxi Lázaro Gabriel Capellá Lesley McGuffog Katherine L Nathanson Antonis C Antoniou Georgia Chenevix-Trench Markus C Fleisch Víctor Moreno Miguel Angel Pujana

PLoS Biol 2011 Nov 15;9(11):e1001199. Epub 2011 Nov 15.

Translational Research Laboratory, Catalan Institute of Oncology, Bellvitge Biomedical Research Institute-IDIBELL, L'Hospitalet, Catalonia, Spain.

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http://dx.doi.org/10.1371/journal.pbio.1001199DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3217025PMC
November 2011

Evidence for a link between TNFRSF11A and risk of breast cancer.

Breast Cancer Res Treat 2011 Oct 4;129(3):947-54. Epub 2011 May 4.

Biomarkers and Susceptibility Unit, and Biomedical Research Center Network for Epidemiology and Public Health, Cancer Prevention and Control Program, Catalan Institute of Oncology, Bellvitge Institute for Biomedical Research (IDIBELL), Gran Via 199, L'Hospitalet, Barcelona 08908, Spain.

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http://dx.doi.org/10.1007/s10549-011-1546-7DOI Listing
October 2011

Exploring the link between MORF4L1 and risk of breast cancer.

Authors:
Griselda Martrat Christopher M Maxwell Emiko Tominaga Montserrat Porta-de-la-Riva Núria Bonifaci Laia Gómez-Baldó Massimo Bogliolo Conxi Lázaro Ignacio Blanco Joan Brunet Helena Aguilar Juana Fernández-Rodríguez Sheila Seal Anthony Renwick Nazneen Rahman Julia Kühl Kornelia Neveling Detlev Schindler María J Ramírez María Castellà Gonzalo Hernández Douglas F Easton Susan Peock Margaret Cook Clare T Oliver Debra Frost Radka Platte D Gareth Evans Fiona Lalloo Rosalind Eeles Louise Izatt Carol Chu Rosemarie Davidson Kai-Ren Ong Jackie Cook Fiona Douglas Shirley Hodgson Carole Brewer Patrick J Morrison Mary Porteous Paolo Peterlongo Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Gaia Roversi Monica Barile Alessandra Viel Barbara Pasini Laura Ottini Anna Laura Putignano Antonella Savarese Loris Bernard Paolo Radice Sue Healey Amanda Spurdle Xiaoqing Chen Jonathan Beesley Matti A Rookus Senno Verhoef Madeleine A Tilanus-Linthorst Maaike P Vreeswijk Christi J Asperen Danielle Bodmer Margreet G E M Ausems Theo A van Os Marinus J Blok Hanne E J Meijers-Heijboer Frans B L Hogervorst David E Goldgar Saundra Buys Esther M John Alexander Miron Melissa Southey Mary B Daly Katja Harbst Ake Borg Johanna Rantala Gisela Barbany-Bustinza Hans Ehrencrona Marie Stenmark-Askmalm Bella Kaufman Yael Laitman Roni Milgrom Eitan Friedman Susan M Domchek Katherine L Nathanson Timothy R Rebbeck Oskar Thor Johannsson Fergus J Couch Xianshu Wang Zachary Fredericksen Daniel Cuadras Víctor Moreno Friederike K Pientka Reinhard Depping Trinidad Caldés Ana Osorio Javier Benítez Juan Bueren Tuomas Heikkinen Heli Nevanlinna Ute Hamann Diana Torres Maria Adelaide Caligo Andrew K Godwin Evgeny N Imyanitov Ramunas Janavicius Olga M Sinilnikova Dominique Stoppa-Lyonnet Sylvie Mazoyer Carole Verny-Pierre Laurent Castera Antoine de Pauw Yves-Jean Bignon Nancy Uhrhammer Jean-Philippe Peyrat Philippe Vennin Sandra Fert Ferrer Marie-Agnès Collonge-Rame Isabelle Mortemousque Lesley McGuffog Georgia Chenevix-Trench Olivia M Pereira-Smith Antonis C Antoniou Julián Cerón Kaoru Tominaga Jordi Surrallés Miguel Angel Pujana

Breast Cancer Res 2011 Apr 5;13(2):R40. Epub 2011 Apr 5.

Translational Research Laboratory, Catalan Institute of Oncology, Bellvitge Institute for Biomedical Research (IDIBELL), Gran Via 199, L'Hospitalet del Llobregat 08908, Spain.

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http://dx.doi.org/10.1186/bcr2862DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3219203PMC
April 2011

Integrated analysis of unclassified variants in mismatch repair genes.

Genet Med 2011 Feb;13(2):115-24

Experimental Oncology 1, Centro di Riferimento Oncologico, IRCCS, via Franco Gallini 2, Aviano, Pordenone, Italy.

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http://dx.doi.org/10.1097/GIM.0b013e3182011489DOI Listing
February 2011

[Genetics and oncogenesis of renal cancer].

Authors:
Alessandra Viel

G Ital Nefrol 2010 Sep-Oct;27 Suppl 50:S3-9

S.O.C. Oncologia Sperimentale 1, Dipartimento di Oncologia Molecolare e Traslazionale, Centro di Riferimento Oncologico - IRCCS, Aviano (PN), Italy.

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January 2011

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers.

Authors:
Susan J Ramus Christiana Kartsonaki Simon A Gayther Paul D P Pharoah Olga M Sinilnikova Jonathan Beesley Xiaoqing Chen Lesley McGuffog Sue Healey Fergus J Couch Xianshu Wang Zachary Fredericksen Paolo Peterlongo Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Gaia Roversi Monica Barile Alessandra Viel Anna Allavena Laura Ottini Laura Papi Viviana Gismondi Fabio Capra Paolo Radice Mark H Greene Phuong L Mai Irene L Andrulis Gord Glendon Hilmi Ozcelik Mads Thomassen Anne-Marie Gerdes Torben A Kruse Dorthe Cruger Uffe Birk Jensen Maria Adelaide Caligo Håkan Olsson Ulf Kristoffersson Annika Lindblom Brita Arver Per Karlsson Marie Stenmark Askmalm Ake Borg Susan L Neuhausen Yuan Chun Ding Katherine L Nathanson Susan M Domchek Anna Jakubowska Jan Lubiński Tomasz Huzarski Tomasz Byrski Jacek Gronwald Bohdan Górski Cezary Cybulski Tadeusz Dębniak Ana Osorio Mercedes Durán Maria-Isabel Tejada Javier Benítez Ute Hamann Matti A Rookus Senno Verhoef Madeleine A Tilanus-Linthorst Maaike P Vreeswijk Danielle Bodmer Margreet G E M Ausems Theo A van Os Christi J Asperen Marinus J Blok Hanne E J Meijers-Heijboer Susan Peock Margaret Cook Clare Oliver Debra Frost Alison M Dunning D Gareth Evans Ros Eeles Gabriella Pichert Trevor Cole Shirley Hodgson Carole Brewer Patrick J Morrison Mary Porteous M John Kennedy Mark T Rogers Lucy E Side Alan Donaldson Helen Gregory Andrew Godwin Dominique Stoppa-Lyonnet Virginie Moncoutier Laurent Castera Sylvie Mazoyer Laure Barjhoux Valérie Bonadona Dominique Leroux Laurence Faivre Rosette Lidereau Catherine Nogues Yves-Jean Bignon Fabienne Prieur Marie-Agnès Collonge-Rame Laurence Venat-Bouvet Sandra Fert-Ferrer Alex Miron Saundra S Buys John L Hopper Mary B Daly Esther M John Mary Beth Terry David Goldgar Thomas v O Hansen Lars Jønson Bent Ejlertsen Bjarni A Agnarsson Kenneth Offit Tomas Kirchhoff Joseph Vijai Ana V C Dutra-Clarke Jennifer A Przybylo Marco Montagna Cinzia Casella Evgeny N Imyanitov Ramunas Janavicius Ignacio Blanco Conxi Lázaro Kirsten B Moysich Beth Y Karlan Jenny Gross Mary S Beattie Rita Schmutzler Barbara Wappenschmidt Alfons Meindl Ina Ruehl Britta Fiebig Christian Sutter Norbert Arnold Helmut Deissler Raymonda Varon-Mateeva Karin Kast Dieter Niederacher Dorothea Gadzicki Trinidad Caldes Miguel de la Hoya Heli Nevanlinna Kristiina Aittomäki Jacques Simard Penny Soucy Amanda B Spurdle Helene Holland Georgia Chenevix-Trench Douglas F Easton Antonis C Antoniou

J Natl Cancer Inst 2011 Jan 17;103(2):105-16. Epub 2010 Dec 17.

Department of Gynaecological Oncology, UCL EGA Institute for Women's Health, University College London, London, UK.

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http://dx.doi.org/10.1093/jnci/djq494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3107565PMC
January 2011

Association between hsa-mir-146a genotype and tumor age-of-onset in BRCA1/BRCA2-negative familial breast and ovarian cancer patients.

Carcinogenesis 2010 Dec 1;31(12):2124-6. Epub 2010 Sep 1.

Unit of Experimental Oncology 1, Department of Molecular Oncology and Translational Research, Centro di Riferimento Oncologico, CRO Aviano National Cancer Institute, 33081 Aviano, Italy.

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https://academic.oup.com/carcin/article-lookup/doi/10.1093/c
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http://dx.doi.org/10.1093/carcin/bgq184DOI Listing
December 2010

BRCA1 modulates the expression of hnRNPA2B1 and KHSRP.

Cell Cycle 2010 Dec 1;9(23):4666-73. Epub 2010 Dec 1.

Experimental Oncology, CRO IRCCS, National Cancer Institute, Aviano, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3048036PMC
http://dx.doi.org/10.4161/cc.9.23.14022DOI Listing
December 2010

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction.

Authors:
Antonis C Antoniou Jonathan Beesley Lesley McGuffog Olga M Sinilnikova Sue Healey Susan L Neuhausen Yuan Chun Ding Timothy R Rebbeck Jeffrey N Weitzel Henry T Lynch Claudine Isaacs Patricia A Ganz Gail Tomlinson Olufunmilayo I Olopade Fergus J Couch Xianshu Wang Noralane M Lindor Vernon S Pankratz Paolo Radice Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Monica Barile Alessandra Viel Anna Allavena Valentina Dall'Olio Paolo Peterlongo Csilla I Szabo Michal Zikan Kathleen Claes Bruce Poppe Lenka Foretova Phuong L Mai Mark H Greene Gad Rennert Flavio Lejbkowicz Gord Glendon Hilmi Ozcelik Irene L Andrulis Mads Thomassen Anne-Marie Gerdes Lone Sunde Dorthe Cruger Uffe Birk Jensen Maria Caligo Eitan Friedman Bella Kaufman Yael Laitman Roni Milgrom Maya Dubrovsky Shimrit Cohen Ake Borg Helena Jernström Annika Lindblom Johanna Rantala Marie Stenmark-Askmalm Beatrice Melin Kate Nathanson Susan Domchek Ania Jakubowska Jan Lubinski Tomasz Huzarski Ana Osorio Adriana Lasa Mercedes Durán Maria-Isabel Tejada Javier Godino Javier Benitez Ute Hamann Mieke Kriege Nicoline Hoogerbrugge Rob B van der Luijt Christi J van Asperen Peter Devilee E J Meijers-Heijboer Marinus J Blok Cora M Aalfs Frans Hogervorst Matti Rookus Margaret Cook Clare Oliver Debra Frost Don Conroy D Gareth Evans Fiona Lalloo Gabriella Pichert Rosemarie Davidson Trevor Cole Jackie Cook Joan Paterson Shirley Hodgson Patrick J Morrison Mary E Porteous Lisa Walker M John Kennedy Huw Dorkins Susan Peock Andrew K Godwin Dominique Stoppa-Lyonnet Antoine de Pauw Sylvie Mazoyer Valérie Bonadona Christine Lasset Hélène Dreyfus Dominique Leroux Agnès Hardouin Pascaline Berthet Laurence Faivre Catherine Loustalot Tetsuro Noguchi Hagay Sobol Etienne Rouleau Catherine Nogues Marc Frénay Laurence Vénat-Bouvet John L Hopper Mary B Daly Mary B Terry Esther M John Saundra S Buys Yosuf Yassin Alexander Miron David Goldgar Christian F Singer Anne Catharina Dressler Daphne Gschwantler-Kaulich Georg Pfeiler Thomas V O Hansen Lars Jønson Bjarni A Agnarsson Tomas Kirchhoff Kenneth Offit Vincent Devlin Ana Dutra-Clarke Marion Piedmonte Gustavo C Rodriguez Katie Wakeley John F Boggess Jack Basil Peter E Schwartz Stephanie V Blank Amanda Ewart Toland Marco Montagna Cinzia Casella Evgeny Imyanitov Laima Tihomirova Ignacio Blanco Conxi Lazaro Susan J Ramus Lara Sucheston Beth Y Karlan Jenny Gross Rita Schmutzler Barbara Wappenschmidt Christoph Engel Alfons Meindl Magdalena Lochmann Norbert Arnold Simone Heidemann Raymonda Varon-Mateeva Dieter Niederacher Christian Sutter Helmut Deissler Dorothea Gadzicki Sabine Preisler-Adams Karin Kast Ines Schönbuchner Trinidad Caldes Miguel de la Hoya Kristiina Aittomäki Heli Nevanlinna Jacques Simard Amanda B Spurdle Helene Holland Xiaoqing Chen Radka Platte Georgia Chenevix-Trench Douglas F Easton

Cancer Res 2010 Dec 30;70(23):9742-54. Epub 2010 Nov 30.

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

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http://dx.doi.org/10.1158/0008-5472.CAN-10-1907DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2999830PMC
December 2010

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

Authors:
Antonis C Antoniou Xianshu Wang Zachary S Fredericksen Lesley McGuffog Robert Tarrell Olga M Sinilnikova Sue Healey Jonathan Morrison Christiana Kartsonaki Timothy Lesnick Maya Ghoussaini Daniel Barrowdale Susan Peock Margaret Cook Clare Oliver Debra Frost Diana Eccles D Gareth Evans Ros Eeles Louise Izatt Carol Chu Fiona Douglas Joan Paterson Dominique Stoppa-Lyonnet Claude Houdayer Sylvie Mazoyer Sophie Giraud Christine Lasset Audrey Remenieras Olivier Caron Agnès Hardouin Pascaline Berthet Frans B L Hogervorst Matti A Rookus Agnes Jager Ans van den Ouweland Nicoline Hoogerbrugge Rob B van der Luijt Hanne Meijers-Heijboer Encarna B Gómez García Peter Devilee Maaike P G Vreeswijk Jan Lubinski Anna Jakubowska Jacek Gronwald Tomasz Huzarski Tomasz Byrski Bohdan Górski Cezary Cybulski Amanda B Spurdle Helene Holland David E Goldgar Esther M John John L Hopper Melissa Southey Saundra S Buys Mary B Daly Mary-Beth Terry Rita K Schmutzler Barbara Wappenschmidt Christoph Engel Alfons Meindl Sabine Preisler-Adams Norbert Arnold Dieter Niederacher Christian Sutter Susan M Domchek Katherine L Nathanson Timothy Rebbeck Joanne L Blum Marion Piedmonte Gustavo C Rodriguez Katie Wakeley John F Boggess Jack Basil Stephanie V Blank Eitan Friedman Bella Kaufman Yael Laitman Roni Milgrom Irene L Andrulis Gord Glendon Hilmi Ozcelik Tomas Kirchhoff Joseph Vijai Mia M Gaudet David Altshuler Candace Guiducci Niklas Loman Katja Harbst Johanna Rantala Hans Ehrencrona Anne-Marie Gerdes Mads Thomassen Lone Sunde Paolo Peterlongo Siranoush Manoukian Bernardo Bonanni Alessandra Viel Paolo Radice Trinidad Caldes Miguel de la Hoya Christian F Singer Anneliese Fink-Retter Mark H Greene Phuong L Mai Jennifer T Loud Lucia Guidugli Noralane M Lindor Thomas V O Hansen Finn C Nielsen Ignacio Blanco Conxi Lazaro Judy Garber Susan J Ramus Simon A Gayther Catherine Phelan Stephen Narod Csilla I Szabo Javier Benitez Ana Osorio Heli Nevanlinna Tuomas Heikkinen Maria A Caligo Mary S Beattie Ute Hamann Andrew K Godwin Marco Montagna Cinzia Casella Susan L Neuhausen Beth Y Karlan Nadine Tung Amanda E Toland Jeffrey Weitzel Olofunmilayo Olopade Jacques Simard Penny Soucy Wendy S Rubinstein Adalgeir Arason Gad Rennert Nicholas G Martin Grant W Montgomery Jenny Chang-Claude Dieter Flesch-Janys Hiltrud Brauch Gianluca Severi Laura Baglietto Angela Cox Simon S Cross Penelope Miron Sue M Gerty William Tapper Drakoulis Yannoukakos George Fountzilas Peter A Fasching Matthias W Beckmann Isabel Dos Santos Silva Julian Peto Diether Lambrechts Robert Paridaens Thomas Rüdiger Asta Försti Robert Winqvist Katri Pylkäs Robert B Diasio Adam M Lee Jeanette Eckel-Passow Celine Vachon Fiona Blows Kristy Driver Alison Dunning Paul P D Pharoah Kenneth Offit V Shane Pankratz Hakon Hakonarson Georgia Chenevix-Trench Douglas F Easton Fergus J Couch

Nat Genet 2010 Oct 19;42(10):885-92. Epub 2010 Sep 19.

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/ng.669DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3130795PMC
October 2010

Common genetic variants and modification of penetrance of BRCA2-associated breast cancer.

Authors:
Mia M Gaudet Tomas Kirchhoff Todd Green Joseph Vijai Joshua M Korn Candace Guiducci Ayellet V Segrè Kate McGee Lesley McGuffog Christiana Kartsonaki Jonathan Morrison Sue Healey Olga M Sinilnikova Dominique Stoppa-Lyonnet Sylvie Mazoyer Marion Gauthier-Villars Hagay Sobol Michel Longy Marc Frenay GEMO Study Collaborators Frans B L Hogervorst Matti A Rookus J Margriet Collée Nicoline Hoogerbrugge Kees E P van Roozendaal Marion Piedmonte Wendy Rubinstein Stacy Nerenstone Linda Van Le Stephanie V Blank Trinidad Caldés Miguel de la Hoya Heli Nevanlinna Kristiina Aittomäki Conxi Lazaro Ignacio Blanco Adalgeir Arason Oskar T Johannsson Rosa B Barkardottir Peter Devilee Olofunmilayo I Olopade Susan L Neuhausen Xianshu Wang Zachary S Fredericksen Paolo Peterlongo Siranoush Manoukian Monica Barile Alessandra Viel Paolo Radice Catherine M Phelan Steven Narod Gad Rennert Flavio Lejbkowicz Anath Flugelman Irene L Andrulis Gord Glendon Hilmi Ozcelik Amanda E Toland Marco Montagna Emma D'Andrea Eitan Friedman Yael Laitman Ake Borg Mary Beattie Susan J Ramus Susan M Domchek Katherine L Nathanson Tim Rebbeck Amanda B Spurdle Xiaoqing Chen Helene Holland Esther M John John L Hopper Saundra S Buys Mary B Daly Melissa C Southey Mary Beth Terry Nadine Tung Thomas V Overeem Hansen Finn C Nielsen Mark H Greene Mark I Greene Phuong L Mai Ana Osorio Mercedes Durán Raquel Andres Javier Benítez Jeffrey N Weitzel Judy Garber Ute Hamann Susan Peock Margaret Cook Clare Oliver Debra Frost Radka Platte D Gareth Evans Fiona Lalloo Ros Eeles Louise Izatt Lisa Walker Jacqueline Eason Julian Barwell Andrew K Godwin Rita K Schmutzler Barbara Wappenschmidt Stefanie Engert Norbert Arnold Dorothea Gadzicki Michael Dean Bert Gold Robert J Klein Fergus J Couch Georgia Chenevix-Trench Douglas F Easton Mark J Daly Antonis C Antoniou David M Altshuler Kenneth Offit

PLoS Genet 2010 Oct 28;6(10):e1001183. Epub 2010 Oct 28.

Department of Epidemiology and Population Health and Department of Obstetrics and Gynecology and Women's Health, Albert Einstein College of Medicine, New York, New York, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1001183DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2965747PMC
October 2010

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers.

Authors:
Antonis C Antoniou Olga M Sinilnikova Lesley McGuffog Sue Healey Heli Nevanlinna Tuomas Heikkinen Jacques Simard Amanda B Spurdle Jonathan Beesley Xiaoqing Chen Susan L Neuhausen Yuan C Ding Fergus J Couch Xianshu Wang Zachary Fredericksen Paolo Peterlongo Bernard Peissel Bernardo Bonanni Alessandra Viel Loris Bernard Paolo Radice Csilla I Szabo Lenka Foretova Michal Zikan Kathleen Claes Mark H Greene Phuong L Mai Gad Rennert Flavio Lejbkowicz Irene L Andrulis Hilmi Ozcelik Gord Glendon Anne-Marie Gerdes Mads Thomassen Lone Sunde Maria A Caligo Yael Laitman Tair Kontorovich Shimrit Cohen Bella Kaufman Efrat Dagan Ruth Gershoni Baruch Eitan Friedman Katja Harbst Gisela Barbany-Bustinza Johanna Rantala Hans Ehrencrona Per Karlsson Susan M Domchek Katherine L Nathanson Ana Osorio Ignacio Blanco Adriana Lasa Javier Benítez Ute Hamann Frans B L Hogervorst Matti A Rookus J Margriet Collee Peter Devilee Marjolijn J Ligtenberg Rob B van der Luijt Cora M Aalfs Quinten Waisfisz Juul Wijnen Cornelis E P van Roozendaal Susan Peock Margaret Cook Debra Frost Clare Oliver Radka Platte D Gareth Evans Fiona Lalloo Rosalind Eeles Louise Izatt Rosemarie Davidson Carol Chu Diana Eccles Trevor Cole Shirley Hodgson Andrew K Godwin Dominique Stoppa-Lyonnet Bruno Buecher Mélanie Léoné Brigitte Bressac-de Paillerets Audrey Remenieras Olivier Caron Gilbert M Lenoir Nicolas Sevenet Michel Longy Sandra Fert Ferrer Fabienne Prieur David Goldgar Alexander Miron Esther M John Saundra S Buys Mary B Daly John L Hopper Mary Beth Terry Yosuf Yassin Christian Singer Daphne Gschwantler-Kaulich Christine Staudigl Thomas v O Hansen Rosa Bjork Barkardottir Tomas Kirchhoff Prodipto Pal Kristi Kosarin Kenneth Offit Marion Piedmonte Gustavo C Rodriguez Katie Wakeley John F Boggess Jack Basil Peter E Schwartz Stephanie V Blank Amanda E Toland Marco Montagna Cinzia Casella Evgeny N Imyanitov Anna Allavena Rita K Schmutzler Beatrix Versmold Christoph Engel Alfons Meindl Nina Ditsch Norbert Arnold Dieter Niederacher Helmut Deissler Britta Fiebig Christian Suttner Ines Schönbuchner Dorothea Gadzicki Trinidad Caldes Miguel de la Hoya Karen A Pooley Douglas F Easton Georgia Chenevix-Trench

Hum Mol Genet 2009 Nov 5;18(22):4442-56. Epub 2009 Aug 5.

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

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http://dx.doi.org/10.1093/hmg/ddp372DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2782243PMC
November 2009

Selecting for BRCA1 testing using a combination of homogeneous selection criteria and immunohistochemical characteristics of breast cancers.

BMC Cancer 2009 Oct 10;9:360. Epub 2009 Oct 10.

Department of Molecular Oncology and Translational Research, Division of Experimental Oncology 1, Centro di Riferimento Oncologico, National Cancer Institute, Aviano, Italy.

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http://dx.doi.org/10.1186/1471-2407-9-360DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2771044PMC
October 2009

Premature senescence is a major response to DNA cross-linking agents in BRCA1-defective cells: implication for tailored treatments of BRCA1 mutation carriers.

Mol Cancer Ther 2009 Apr;8(4):844-54

Experimental Oncology 1, Centro di Riferimento Oncologico, Istituto Di Ricovero e Cura a Carattere Scientifico, National Cancer Institute, via F. Gallini 2, Aviano 33081 PN, Italy.

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http://dx.doi.org/10.1158/1535-7163.MCT-08-0951DOI Listing
April 2009

Somatic mosaicism in a patient with Lynch syndrome.

Am J Med Genet A 2009 Feb;149A(2):212-5

Oncologia Sperimentale 1, Centro di Riferimento Oncologico, IRCCS, Aviano (PN), Italy.

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http://dx.doi.org/10.1002/ajmg.a.32620DOI Listing
February 2009

A missense germline mutation in exon 7 of the MSH2 gene in a HNPCC family from center-Italy.

Fam Cancer 2007 ;6(1):97-102

Istituto di Medicina Clinica e Biotecnologie Applicate-Oncologia Medica, Università Politecnica delle Marche, via Tronto, 60020 Ancona, Italy.

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http://dx.doi.org/10.1007/s10689-006-9110-zDOI Listing
September 2007

Twelve years of endoscopic surveillance in a family carrying biallelic Y165C MYH defect: report of a case.

Dis Colon Rectum 2006 Feb;49(2):272-5

Gastroenterology Unit, Centro di Riferimento Oncologico, IRCCS, Aviano, Italy.

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http://dx.doi.org/10.1007/s10350-005-0257-8DOI Listing
February 2006

Stability of BAT26 in tumours of hereditary nonpolyposis colorectal cancer patients with MSH2 intragenic deletion.

Eur J Hum Genet 2006 Jan;14(1):63-8

Experimental Oncology 1, Department of Preclinical Research and Epidemiology, Centro Riferimento Oncologico-IRCCS, Aviano, Italy.

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http://dx.doi.org/10.1038/sj.ejhg.5201517DOI Listing
January 2006

MUC gene abnormalities in sporadic and hereditary mucinous colon cancers with microsatellite instability.

Dis Markers 2005 ;21(3):121-6

Department of Preclinical Research and Epidemiology, Centro Riferimento Oncologico, IRCCS, Aviano (PN), Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3851629PMC
http://dx.doi.org/10.1155/2005/370908DOI Listing
January 2006

Two PMS2 mutations in a Turcot syndrome family with small bowel cancers.

Am J Gastroenterol 2005 Aug;100(8):1886-91

Department of Preclinical Research and Epidemiology, Experimental Oncology 1, Centro Riferimento Oncologico, IRCCS, Aviano, Italy.

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August 2005

Mutations of an intronic repeat induce impaired MRE11 expression in primary human cancer with microsatellite instability.

Oncogene 2004 Apr;23(15):2640-7

Department of Experimental Medicine and Pathology, University La Sapienza, Policlinico Umberto I, Viale Regina Elena, 324, 00161 Rome, Italy.

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http://dx.doi.org/10.1038/sj.onc.1207409DOI Listing
April 2004

Early-age-at-onset colorectal cancer and microsatellite instability as markers of hereditary nonpolyposis colorectal cancer.

Dis Colon Rectum 2003 Mar;46(3):305-12

Dipartimento di Scienze Oncologiche e Chirurgiche, Sezzione de Clinica Chirurgica II, Oiliclinico, VI piano, Università di Padova, Via Giustiniani 2, 35128 Padua, Italy.

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http://dx.doi.org/10.1007/s10350-004-6546-9DOI Listing
March 2003

Methylenetetrahydrofolate reductase 677 C-->T polymorphism and risk of proximal colon cancer in north Italy.

Clin Cancer Res 2003 Feb;9(2):743-8

Experimental and Clinical Pharmacology Unit, Division of Experimental Oncology 1, Centro di Riferimento Oncologico, Aviano (PN), Italy.

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February 2003

Polymorphic CAG repeat length within the androgen receptor gene: identification of a subgroup of patients with increased risk of ovarian cancer.

Oncol Rep 2002 May-Jun;9(3):639-44

Division of Experimental Oncology 1, Centro di Riferimento Oncologico-IRCCS, Aviano, Italy.

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October 2002

Amsterdam criteria II and endometrial cancer index cases for an accurate selection of HNPCC families.

Tumori 2002 Jan-Feb;88(1):18-20

Department of Gastroenterology, Centro di Riferimento Oncologico, Aviano, Italy.

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May 2002