Fiona Lalloo

Fiona Lalloo

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Fiona Lalloo

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Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.

Genet Med 2019 Jul 24. Epub 2019 Jul 24.

Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1038/s41436-019-0596-9DOI Listing
July 2019

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

Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report.

Hered Cancer Clin Pract 2019 28;17. Epub 2019 Feb 28.

4Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, part of Oslo University Hospital, Olso, Norway.

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https://hccpjournal.biomedcentral.com/articles/10.1186/s1305
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http://dx.doi.org/10.1186/s13053-019-0106-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394091PMC
February 2019

A Dominantly Inherited 5' UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer.

Am J Hum Genet 2018 08;103(2):213-220

Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester M13 9PL, UK; Manchester Breast Centre, Manchester Cancer Research Centre, University of Manchester, Manchester M20 4BX, UK; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.07.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6080768PMC
August 2018

Penetrance estimates for , (also applied to Lynch syndrome) based on presymptomatic testing: a new unbiased method to assess risk?

J Med Genet 2018 Jul 26;55(7):442-448. Epub 2018 Feb 26.

Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1136/jmedgenet-2017-105223DOI Listing
July 2018

CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing.

J Med Genet 2018 02 16;55(2):89-96. Epub 2017 Sep 16.

Manchester Centre for Genomic Medicine, Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2017-104892
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http://dx.doi.org/10.1136/jmedgenet-2017-104892DOI Listing
February 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

Pathology update to the Manchester Scoring System based on testing in over 4000 families.

J Med Genet 2017 10 10;54(10):674-681. Epub 2017 May 10.

Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1136/jmedgenet-2017-104584DOI Listing
October 2017

The BRCA1/2 Parent-of-Origin Effect on Breast Cancer Risk-Letter.

Cancer Epidemiol Biomarkers Prev 2017 02;26(2):284

Department of Genomic Medicine, Division of Evolution and Genomic Science, MAHSC, Central Manchester NHS Foundation Trust, Manchester, United Kingdom.

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http://dx.doi.org/10.1158/1055-9965.EPI-16-0832DOI Listing
February 2017

Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing.

Eur J Hum Genet 2016 11 8;24(11):1591-1597. Epub 2016 Jun 8.

Genomic Medicine, Institute of Human Development, St. Mary's Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1038/ejhg.2016.57DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110056PMC
November 2016

Diagnosis and Management of Hereditary Phaeochromocytoma and Paraganglioma.

Authors:
Fiona Lalloo

Recent Results Cancer Res 2016 ;205:105-24

Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.

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http://dx.doi.org/10.1007/978-3-319-29998-3_7DOI Listing
July 2016

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

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

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

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

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

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

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

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

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

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0120020PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382299PMC
December 2015

Lynch syndrome caused by MLH1 mutations is associated with an increased risk of breast cancer: a cohort study.

J Med Genet 2015 Aug 22;52(8):553-6. Epub 2015 Jun 22.

Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.1136/jmedgenet-2015-103216DOI Listing
August 2015

A clinical and genetic analysis of multiple primary cancer referrals to genetics services.

Eur J Hum Genet 2015 May 24;23(5):581-7. Epub 2014 Sep 24.

1] Centre for Rare Diseases and Personalised Medicine, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK [2] Department of Medical Genetics, School of Clinical Medicine, University of Cambridge, Cambridge, UK.

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http://dx.doi.org/10.1038/ejhg.2014.157DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402633PMC
May 2015

Can multiple SNP testing in BRCA2 and BRCA1 female carriers be used to improve risk prediction models in conjunction with clinical assessment?

BMC Med Inform Decis Mak 2014 Oct 1;14:87. Epub 2014 Oct 1.

Institute of Population Health, Centre for Health Informatics, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1186/1472-6947-14-87DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4197237PMC
October 2014

Long-term prospective clinical follow-up after BRCA1/2 presymptomatic testing: BRCA2 risks higher than in adjusted retrospective studies.

J Med Genet 2014 Sep 22;51(9):573-80. Epub 2014 Jul 22.

Genesis Breast Cancer Prevention Centre, University Hospital of South Manchester NHS Trust, Manchester, UK Manchester Breast Centre, Manchester Cancer Research Centre, University of Manchester, Christie Hospital, Manchester, UK The University of Manchester, Manchester Academic Health Science Centre, University Hospital of South Manchester NHS Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1136/jmedgenet-2014-102336DOI Listing
September 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

A pooled analysis of the outcome of prospective colonoscopic surveillance for familial colorectal cancer.

Int J Cancer 2014 Feb 29;134(4):939-47. Epub 2013 Aug 29.

Queen Mary University of London, Centre for Cancer Prevention, Wolfson Institute of Preventive Medicine, Charterhouse Square, London, United Kingdom.

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http://dx.doi.org/10.1002/ijc.28397DOI Listing
February 2014

Risk-reducing surgery increases survival in BRCA1/2 mutation carriers unaffected at time of family referral.

Breast Cancer Res Treat 2013 Dec 20;142(3):611-8. Epub 2013 Nov 20.

Centre for Health Informatics, Institute of Population Health, The University of Manchester, Jean McFarlane Building, Oxford Road, Manchester, M13 9PL, UK.

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http://dx.doi.org/10.1007/s10549-013-2765-xDOI Listing
December 2013

Increased rate of phenocopies in all age groups in BRCA1/BRCA2 mutation kindred, but increased prospective breast cancer risk is confined to BRCA2 mutation carriers.

Cancer Epidemiol Biomarkers Prev 2013 Dec 27;22(12):2269-76. Epub 2013 Nov 27.

Authors' Affiliations: Department of Genetic Medicine, The University of Manchester, Manchester Academic Health Science Centre, St. Mary's Hospital; Genesis Prevention Centre, University Hospital of South Manchester Southmoor Road; Centre for Health Informatics, Institute of Population Health, The University of Manchester, Manchester; and Centre for Rare Diseases and Personalised Medicine, School of Clinical and Experimental Medicine, University of Birmingham College of Medical and Dental Sciences, and West Midlands Regional Genetics Service, Birmingham, United Kingdom.

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http://dx.doi.org/10.1158/1055-9965.EPI-13-0316-TDOI Listing
December 2013

Muir-Torre syndrome in a haemodialysis patient.

Clin Kidney J 2013 Aug;6(4):414-7

Department of Renal Medicine , Lancashire Teaching Hospitals NHS Foundation Trust , Preston, Lancashire , UK.

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http://dx.doi.org/10.1093/ckj/sft068DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898341PMC
August 2013

A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.

J Clin Endocrinol Metab 2013 Jul 10;98(7):E1248-56. Epub 2013 May 10.

Centre for Rare Diseases and Personalised Medicine, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Edgbaston, Birmingham B15 2TH, United Kingdom.

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http://dx.doi.org/10.1210/jc.2013-1319DOI Listing
July 2013

Contralateral mastectomy improves survival in women with BRCA1/2-associated breast cancer.

Breast Cancer Res Treat 2013 Jul 20;140(1):135-42. Epub 2013 Jun 20.

Genesis Breast Cancer Prevention Centre, University Hospital of South Manchester NHS Trust, Southmoor Road, Wythenshawe, Manchester, UK.

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http://dx.doi.org/10.1007/s10549-013-2583-1DOI Listing
July 2013

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers.

Authors:
Yuan C Ding Lesley McGuffog Sue Healey Eitan Friedman Yael Laitman Shani- Paluch-Shimon Bella Kaufman Annelie Liljegren Annika Lindblom Håkan Olsson Ulf Kristoffersson Marie Stenmark-Askmalm Beatrice Melin Susan M Domchek Katherine L Nathanson Timothy R Rebbeck Anna Jakubowska Jan Lubinski Katarzyna Jaworska Katarzyna Durda Jacek Gronwald Tomasz Huzarski Cezary Cybulski Tomasz Byrski Ana Osorio Teresa Ramóny Cajal Alexandra V Stavropoulou Javier Benítez Ute Hamann Matti Rookus Cora M Aalfs Judith L de Lange Hanne E J Meijers-Heijboer Jan C Oosterwijk Christi J van Asperen Encarna B Gómez García Nicoline Hoogerbrugge Agnes Jager Rob B van der Luijt Douglas F Easton Susan Peock Debra Frost Steve D Ellis Radka Platte Elena Fineberg D Gareth Evans Fiona Lalloo Louise Izatt Ros Eeles Julian Adlard Rosemarie Davidson Diana Eccles Trevor Cole Jackie Cook Carole Brewer Marc Tischkowitz Andrew K Godwin Harsh Pathak Dominique Stoppa-Lyonnet Olga M Sinilnikova Sylvie Mazoyer Laure Barjhoux Mélanie Léoné Marion Gauthier-Villars Virginie Caux-Moncoutier Antoine de Pauw Agnès Hardouin Pascaline Berthet Hélène Dreyfus Sandra Fert Ferrer Marie-Agnès Collonge-Rame Johanna Sokolowska Saundra Buys Mary Daly Alex Miron Mary Beth Terry Wendy Chung Esther M John Melissa Southey David Goldgar Christian F Singer Muy-Kheng Maria Tea Daphne Gschwantler-Kaulich Anneliese Fink-Retter Thomas V O Hansen Bent Ejlertsen Oskar T Johannsson Kenneth Offit Kara Sarrel Mia M Gaudet Joseph Vijai Mark Robson Marion R Piedmonte Lesley Andrews David Cohn Leslie R DeMars Paul DiSilvestro Gustavo Rodriguez Amanda Ewart Toland Marco Montagna Simona Agata Evgeny Imyanitov Claudine Isaacs Ramunas Janavicius Conxi Lazaro Ignacio Blanco Susan J Ramus Lara Sucheston Beth Y Karlan Jenny Gross Patricia A Ganz Mary S Beattie Rita K Schmutzler Barbara Wappenschmidt Alfons Meindl Norbert Arnold Dieter Niederacher Sabine Preisler-Adams Dorotehea Gadzicki Raymonda Varon-Mateeva Helmut Deissler Andrea Gehrig Christian Sutter Karin Kast Heli Nevanlinna Kristiina Aittomäki Jacques Simard Amanda B Spurdle Jonathan Beesley Xiaoqing Chen Gail E Tomlinson Jeffrey Weitzel Judy E Garber Olufunmilayo I Olopade Wendy S Rubinstein Nadine Tung Joanne L Blum Steven A Narod Sean Brummel Daniel L Gillen Noralane Lindor Zachary Fredericksen Vernon S Pankratz Fergus J Couch Paolo Radice Paolo Peterlongo Mark H Greene Jennifer T Loud Phuong L Mai Irene L Andrulis Gord Glendon Hilmi Ozcelik Anne-Marie Gerdes Mads Thomassen Uffe Birk Jensen Anne-Bine Skytte Maria A Caligo Andrew Lee Georgia Chenevix-Trench Antonis C Antoniou Susan L Neuhausen

Cancer Epidemiol Biomarkers Prev 2012 Aug 22;21(8):1362-70. Epub 2012 Jun 22.

Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California 91010, USA.

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http://dx.doi.org/10.1158/1055-9965.EPI-12-0229DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3415567PMC
August 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

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers.

Authors:
Susan J Ramus Antonis C Antoniou Karoline B Kuchenbaecker Penny Soucy Jonathan Beesley Xiaoqing Chen Lesley McGuffog Olga M Sinilnikova Sue Healey Daniel Barrowdale Andrew Lee Mads Thomassen Anne-Marie Gerdes Torben A Kruse Uffe Birk Jensen Anne-Bine Skytte Maria A Caligo Annelie Liljegren Annika Lindblom Håkan Olsson Ulf Kristoffersson Marie Stenmark-Askmalm Beatrice Melin Susan M Domchek Katherine L Nathanson Timothy R Rebbeck Anna Jakubowska Jan Lubinski Katarzyna Jaworska Katarzyna Durda Elżbieta Złowocka Jacek Gronwald Tomasz Huzarski Tomasz Byrski Cezary Cybulski Aleksandra Toloczko-Grabarek Ana Osorio Javier Benitez Mercedes Duran Maria-Isabel Tejada Ute Hamann Matti Rookus Flora E van Leeuwen Cora M Aalfs Hanne E J Meijers-Heijboer Christi J van Asperen K E P van Roozendaal Nicoline Hoogerbrugge J Margriet Collée Mieke Kriege Rob B van der Luijt Susan Peock Debra Frost Steve D Ellis Radka Platte Elena Fineberg D Gareth Evans Fiona Lalloo Chris Jacobs Ros Eeles Julian Adlard Rosemarie Davidson Diana Eccles Trevor Cole Jackie Cook Joan Paterson Fiona Douglas Carole Brewer Shirley Hodgson Patrick J Morrison Lisa Walker Mary E Porteous M John Kennedy Harsh Pathak Andrew K Godwin Dominique Stoppa-Lyonnet Virginie Caux-Moncoutier Antoine de Pauw Marion Gauthier-Villars Sylvie Mazoyer Mélanie Léoné Alain Calender Christine Lasset Valérie Bonadona Agnès Hardouin Pascaline Berthet Yves-Jean Bignon Nancy Uhrhammer Laurence Faivre Catherine Loustalot Saundra Buys Mary Daly Alex Miron Mary Beth Terry Wendy K Chung Esther M John Melissa Southey David Goldgar Christian F Singer Muy-Kheng Tea Georg Pfeiler Anneliese Fink-Retter Thomas v O Hansen Bent Ejlertsen Oskar Th Johannsson Kenneth Offit Tomas Kirchhoff Mia M Gaudet Joseph Vijai Mark Robson Marion Piedmonte Kelly-Anne Phillips Linda Van Le James S Hoffman Amanda Ewart Toland Marco Montagna Silvia Tognazzo Evgeny Imyanitov Claudine Issacs Ramunas Janavicius Conxi Lazaro Iganacio Blanco Eva Tornero Matilde Navarro Kirsten B Moysich Beth Y Karlan Jenny Gross Edith Olah Tibor Vaszko Soo-Hwang Teo Patricia A Ganz Mary S Beattie Cecelia M Dorfling Elizabeth J van Rensburg Orland Diez Ava Kwong Rita K Schmutzler Barbara Wappenschmidt Christoph Engel Alfons Meindl Nina Ditsch Norbert Arnold Simone Heidemann Dieter Niederacher Sabine Preisler-Adams Dorotehea Gadzicki Raymonda Varon-Mateeva Helmut Deissler Andrea Gehrig Christian Sutter Karin Kast Britta Fiebig Dieter Schäfer Trinidad Caldes Miguel de la Hoya Heli Nevanlinna Kristiina Aittomäki Marie Plante Amanda B Spurdle Susan L Neuhausen Yuan Chun Ding Xianshu Wang Noralane Lindor Zachary Fredericksen V Shane Pankratz Paolo Peterlongo Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Bernardo Bonanni Loris Bernard Riccardo Dolcetti Laura Papi Laura Ottini Paolo Radice Mark H Greene Phuong L Mai Irene L Andrulis Gord Glendon Hilmi Ozcelik Paul D P Pharoah Simon A Gayther Jacques Simard Douglas F Easton Fergus J Couch Georgia Chenevix-Trench

Hum Mutat 2012 Apr 14;33(4):690-702. Epub 2012 Feb 14.

Department of Preventive Medicine, Keck School of Medicine, University of Southern California, California, USA.

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http://dx.doi.org/10.1002/humu.22025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3458423PMC
April 2012

Life expectancy in hereditary cancer predisposing diseases: an observational study.

J Med Genet 2012 Apr 23;49(4):264-9. Epub 2012 Feb 23.

Genetic Medicine, The University of Manchester, Manchester Academic Health Science Centre, St Mary’s Hospital, Central Manchester Hospitals Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1136/jmedgenet-2011-100562DOI Listing
April 2012

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers.

Authors:
Antonis C Antoniou Karoline B Kuchenbaecker Penny Soucy Jonathan Beesley Xiaoqing Chen Lesley McGuffog Andrew Lee Daniel Barrowdale Sue Healey Olga M Sinilnikova Maria A Caligo Niklas Loman Katja Harbst Annika Lindblom Brita Arver Richard Rosenquist Per Karlsson Kate Nathanson Susan Domchek Tim Rebbeck Anna Jakubowska Jan Lubinski Katarzyna Jaworska Katarzyna Durda Elżbieta Złowowcka-Perłowska Ana Osorio Mercedes Durán Raquel Andrés Javier Benítez Ute Hamann Frans B Hogervorst Theo A van Os Senno Verhoef Hanne E J Meijers-Heijboer Juul Wijnen Encarna B Gómez Garcia Marjolijn J Ligtenberg Mieke Kriege J Margriet Collée Margreet G E M Ausems Jan C Oosterwijk Susan Peock Debra Frost Steve D Ellis Radka Platte Elena Fineberg D Gareth Evans Fiona Lalloo Chris Jacobs Ros Eeles Julian Adlard Rosemarie Davidson Trevor Cole Jackie Cook Joan Paterson Fiona Douglas Carole Brewer Shirley Hodgson Patrick J Morrison Lisa Walker Mark T Rogers Alan Donaldson Huw Dorkins Andrew K Godwin Betsy Bove Dominique Stoppa-Lyonnet Claude Houdayer Bruno Buecher Antoine de Pauw Sylvie Mazoyer Alain Calender Mélanie Léoné Brigitte Bressac-de Paillerets Olivier Caron Hagay Sobol Marc Frenay Fabienne Prieur Sandra U Ferrer Isabelle Mortemousque Saundra Buys Mary Daly Alexander Miron Mary U Terry John L Hopper Esther M John Melissa Southey David Goldgar Christian F Singer Anneliese Fink-Retter Muy-Kheng Tea Daphne U Kaulich Thomas V Hansen Finn C Nielsen Rosa B Barkardottir Mia Gaudet Tomas Kirchhoff Vijai Joseph Ana Dutra-Clarke Kenneth Offit Marion Piedmonte Judy Kirk David Cohn Jean Hurteau John Byron James Fiorica Amanda E Toland Marco Montagna Cristina Oliani Evgeny Imyanitov Claudine Isaacs Laima Tihomirova Ignacio Blanco Conxi Lazaro Alex Teulé J Del Valle Simon A Gayther Kunle Odunsi Jenny Gross Beth Y Karlan Edith Olah Soo-Hwang Teo Patricia A Ganz Mary S Beattie Cecelia M Dorfling Elizabeth U van Rensburg 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 Dieter Schäfer Trinidad Caldes Miguel de la Hoya Heli Nevanlinna Taru A Muranen Bernard Lespérance Amanda B Spurdle Susan L Neuhausen Yuan C Ding Xianshu Wang Zachary Fredericksen Vernon S Pankratz Noralane M Lindor Paolo Peterlongo Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Bernardo Bonanni Loris Bernard Riccardo Dolcetti Laura Papi Laura Ottini Paolo Radice Mark H Greene Jennifer T Loud Irene L Andrulis Hilmi Ozcelik Anna U Mulligan Gord Glendon Mads Thomassen Anne-Marie Gerdes Uffe B Jensen Anne-Bine Skytte Torben A Kruse Georgia Chenevix-Trench Fergus J Couch Jacques Simard Douglas F Easton

Breast Cancer Res 2012 Feb 20;14(1):R33. Epub 2012 Feb 20.

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

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http://dx.doi.org/10.1186/bcr3121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3496151PMC
February 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 SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers.

Breast Cancer Res 2010 29;12(6):R102. Epub 2010 Nov 29.

Division of Genetics and Population Health, Queensland Institute of Medical Research, Brisbane, Australia.

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http://dx.doi.org/10.1186/bcr2785DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3046447PMC
September 2011

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers.

Authors:
Antonis C Antoniou Christiana Kartsonaki Olga M Sinilnikova Penny Soucy Lesley McGuffog Sue Healey Andrew Lee Paolo Peterlongo Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Elisa Cattaneo Monica Barile Valeria Pensotti Barbara Pasini Riccardo Dolcetti Giuseppe Giannini Anna Laura Putignano Liliana Varesco Paolo Radice Phuong L Mai Mark H Greene Irene L Andrulis Gord Glendon Hilmi Ozcelik Mads Thomassen Anne-Marie Gerdes Torben A Kruse Uffe Birk Jensen Dorthe G Crüger Maria A Caligo Yael Laitman Roni Milgrom Bella Kaufman Shani Paluch-Shimon Eitan Friedman Niklas Loman Katja Harbst Annika Lindblom Brita Arver Hans Ehrencrona Beatrice Melin Katherine L Nathanson Susan M Domchek Timothy Rebbeck Ania Jakubowska Jan Lubinski Jacek Gronwald Tomasz Huzarski Tomasz Byrski Cezary Cybulski Bohdan Gorski Ana Osorio Teresa Ramón y Cajal Florentia Fostira Raquel Andrés Javier Benitez Ute Hamann Frans B Hogervorst Matti A Rookus Maartje J Hooning Marcel R Nelen Rob B van der Luijt Theo A M van Os Christi J van Asperen Peter Devilee Hanne E J Meijers-Heijboer Encarna B Gómez Garcia Susan Peock Margaret Cook Debra Frost Radka Platte Jean Leyland D Gareth Evans Fiona Lalloo Ros Eeles Louise Izatt Julian Adlard Rosemarie Davidson Diana Eccles Kai-ren Ong Jackie Cook Fiona Douglas Joan Paterson M John Kennedy Zosia Miedzybrodzka Andrew Godwin Dominique Stoppa-Lyonnet Bruno Buecher Muriel Belotti Carole Tirapo Sylvie Mazoyer Laure Barjhoux Christine Lasset Dominique Leroux Laurence Faivre Myriam Bronner Fabienne Prieur Catherine Nogues Etienne Rouleau Pascal Pujol Isabelle Coupier Marc Frénay John L Hopper Mary B Daly Mary B Terry Esther M John Saundra S Buys Yosuf Yassin Alexander Miron David Goldgar Christian F Singer Muy-Kheng Tea Georg Pfeiler Anne Catharina Dressler Thomas v O Hansen Lars Jønson Bent Ejlertsen Rosa Bjork Barkardottir Tomas Kirchhoff Kenneth Offit Marion Piedmonte Gustavo Rodriguez Laurie Small John Boggess Stephanie Blank Jack Basil Masoud Azodi Amanda Ewart Toland Marco Montagna Silvia Tognazzo Simona Agata Evgeny Imyanitov Ramunas Janavicius Conxi Lazaro Ignacio Blanco Paul D P Pharoah Lara Sucheston Beth Y Karlan Christine S Walsh Edith Olah Aniko Bozsik Soo-Hwang Teo Joyce L Seldon Mary S Beattie Elizabeth J van Rensburg Michelle D Sluiter Orland Diez Rita K Schmutzler Barbara Wappenschmidt Christoph Engel Alfons Meindl Ina Ruehl Raymonda Varon-Mateeva Karin Kast Helmut Deissler Dieter Niederacher Norbert Arnold Dorothea Gadzicki Ines Schönbuchner Trinidad Caldes Miguel de la Hoya Heli Nevanlinna Kristiina Aittomäki Martine Dumont Jocelyne Chiquette Marc Tischkowitz Xiaoqing Chen Jonathan Beesley Amanda B Spurdle Susan L Neuhausen Yuan Chun Ding Zachary Fredericksen Xianshu Wang Vernon S Pankratz Fergus Couch Jacques Simard Douglas F Easton Georgia Chenevix-Trench

Hum Mol Genet 2011 Aug 18;20(16):3304-21. Epub 2011 May 18.

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

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http://dx.doi.org/10.1093/hmg/ddr226DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3652640PMC
August 2011

Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers.

Cancer Epidemiol Biomarkers Prev 2011 May 10;20(5):1032-8. Epub 2011 Mar 10.

QueenslanInstitute for Medical Research, Brisbane, Australia.

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http://dx.doi.org/10.1158/1055-9965.EPI-10-0909DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3089675PMC
May 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

Development of a scoring system to screen for BRCA1/2 mutations.

Methods Mol Biol 2010 ;653:237-47

Medical Genetics Research Group and Regional Genetics Service, St Mary's Hospital, University of Manchester and Central Manchester and Manchester Children's University Hospitals NHS Trust, Manchester, UK.

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http://dx.doi.org/10.1007/978-1-60761-759-4_14DOI 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

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

BRCA1, BRCA2 and CHEK2 c.1100 delC mutations in patients with double primaries of the breasts and/or ovaries.

J Med Genet 2010 Aug 14;47(8):561-6. Epub 2010 May 14.

Genetic Medicine, St Mary's Hospital, Manchester Academic Health Science Centre, Central Manchester University Hospitals Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1136/jmg.2009.075770DOI Listing
August 2010

Breast cancer susceptibility variants alter risks in familial disease.

J Med Genet 2010 Feb 16;47(2):126-31. Epub 2009 Jul 16.

Department of Medical Genetics, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), University of Manchester, Manchester M13 0JH, UK.

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http://dx.doi.org/10.1136/jmg.2009.067256DOI Listing
February 2010

Risk-reducing surgery for ovarian cancer: outcomes in 300 surgeries suggest a low peritoneal primary risk.

Eur J Hum Genet 2009 Nov 15;17(11):1381-5. Epub 2009 Apr 15.

University of Manchester and Central Manchester and Manchester Children's University Hospitals NHS Trust, St Mary's Hospital, UK.

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http://dx.doi.org/10.1038/ejhg.2009.60DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986671PMC
November 2009

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

No evidence that GATA3 rs570613 SNP modifies breast cancer risk.

Breast Cancer Res Treat 2009 Sep 11;117(2):371-9. Epub 2008 Dec 11.

Cancer and Cell Biology, Queensland Institute of Medical Research, c/o Royal Brisbane Hospital Post Office, Herston, Brisbane, QLD 4029, Australia.

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http://dx.doi.org/10.1007/s10549-008-0257-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2728174PMC
September 2009

Uptake of risk-reducing surgery in unaffected women at high risk of breast and ovarian cancer is risk, age, and time dependent.

Cancer Epidemiol Biomarkers Prev 2009 Aug;18(8):2318-24

Regional Genetic Service, The University of Manchester, St.Mary's Hospital, Manchester, United Kingdom.

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http://dx.doi.org/10.1158/1055-9965.EPI-09-0171DOI Listing
August 2009

Update on genetic predisposition to breast cancer.

Expert Rev Anticancer Ther 2009 Aug;9(8):1103-13

Department of Genetic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, UK.

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http://dx.doi.org/10.1586/era.09.38DOI Listing
August 2009

BRCA1/2 mutation analysis in male breast cancer families from North West England.

Fam Cancer 2008 17;7(2):113-7. Epub 2007 Jul 17.

Academic Unit of Medical Genetics, National Genetics Reference Laboratory and Regional Genetic Service, St. Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK.

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http://dx.doi.org/10.1007/s10689-007-9153-9DOI Listing
October 2008

Impaired tamoxifen metabolism reduces survival in familial breast cancer patients.

Clin Cancer Res 2008 Sep;14(18):5913-8

Department of Medical Genetics, St. Mary's Hospital, University of Manchester, Manchester, United Kingdom.

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http://dx.doi.org/10.1158/1078-0432.CCR-07-5235DOI Listing
September 2008

Better life expectancy in women with BRCA2 compared with BRCA1 mutations is attributable to lower frequency and later onset of ovarian cancer.

Cancer Epidemiol Biomarkers Prev 2008 Jun;17(6):1535-42

Department of Medical Oncology, Academic Unit of Medical Genetics, St. Mary's Hospital, Manchester, United Kingdom.

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http://dx.doi.org/10.1158/1055-9965.EPI-07-2792DOI Listing
June 2008

Familial colorectal cancer referral to regional genetics department--a single centre experience.

Fam Cancer 2007 ;6(1):81-7

Department of Colorectal Surgery, Manchester Royal Infirmary, UK.

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http://dx.doi.org/10.1007/s10689-006-9108-6DOI Listing
September 2007

Surveillance for familial breast cancer: Differences in outcome according to BRCA mutation status.

Int J Cancer 2007 Sep;121(5):1017-20

Section for Inherited Cancer, Department of Medical Genetics, Rikshospitalet-Radiumhospitalet Clinical Center, Oslo, Norway.

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http://dx.doi.org/10.1002/ijc.22789DOI Listing
September 2007

Parity and breast cancer risk among BRCA1 and BRCA2 mutation carriers.

Breast Cancer Res 2006 ;8(6):R72

CR-UK Genetic Epidemiology Unit, Strangeways Research Laboratory, Department of Public Health and Primary Care, Worts Causeway, University of Cambridge, Cambridge, CB1 8RN, UK.

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http://dx.doi.org/10.1186/bcr1630DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1797022PMC
February 2007

Optimal selection of individuals for BRCA mutation testing.

J Clin Oncol 2006 Jul;24(20):3311; author reply 3311-2

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http://dx.doi.org/10.1200/JCO.2006.06.6134DOI Listing
July 2006

BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives.

Eur J Cancer 2006 May 27;42(8):1143-50. Epub 2006 Apr 27.

Department of Clinical, Genetics and Academic Unit of Medical Genetics, St. Mary's Hospital, Hathersage Road, Manchester M13 0JH, United Kingdom.

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http://dx.doi.org/10.1016/j.ejca.2005.11.032DOI Listing
May 2006

Do women understand the odds? Risk perceptions and recall of risk information in women with a family history of breast cancer.

Community Genet 2003 ;6(4):214-23

Psycho-Oncology, Christie Hospital NHS Trust, Manchester, UK.

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http://dx.doi.org/10.1159/000079383DOI Listing
November 2004

BRCA1/2 predictive testing: a study of uptake in two centres.

Eur J Hum Genet 2004 Aug;12(8):654-62

Academic Unit of Medical Genetics and Regional Genetics Service, St Mary's Hospital, Manchester M13 0JH, UK.

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http://www.nature.com/articles/5201206
Publisher Site
http://dx.doi.org/10.1038/sj.ejhg.5201206DOI Listing
August 2004

Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility.

Clin Endocrinol (Oxf) 2003 Dec;59(6):728-33

Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, Edgbaston, Birmingham, UK.

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http://dx.doi.org/10.1046/j.1365-2265.2003.01914.xDOI Listing
December 2003

Prediction of pathogenic mutations in patients with early-onset breast cancer by family history.

Lancet 2003 Mar;361(9363):1101-2

Department of Clinical Genetics, St Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.1016/S0140-6736(03)12856-5DOI Listing
March 2003