D Gareth Evans

D Gareth Evans

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D Gareth Evans

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Prediction of reader estimates of mammographic density using convolutional neural networks.

J Med Imaging (Bellingham) 2019 Jul 31;6(3):031405. Epub 2019 Jan 31.

University of Manchester, Division of Informatics, Imaging and Data Sciences, Faculty of Biology, Medicine and Health, Manchester, United Kingdom.

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http://dx.doi.org/10.1117/1.JMI.6.3.031405DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6357906PMC
July 2019

Breast cancer pathology and stage are better predicted by risk stratification models that include mammographic density and common genetic variants.

Breast Cancer Res Treat 2019 Jul 2;176(1):141-148. Epub 2019 Apr 2.

Centre for Cancer Prevention, Wolfson Institute of Preventive Medicine, Charterhouse Square, Barts and The London, Queen Mary University of London, London, UK.

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http://dx.doi.org/10.1007/s10549-019-05210-2DOI Listing
July 2019

From process to progress-2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis.

Am J Med Genet A 2019 Jun 25;179(6):1098-1106. Epub 2019 Mar 25.

Division of Neuroscience, Oregon National Primate Research Center, and Department of Cell, Developmental and Cancer Biology, Oregon Health & Science University, Portland, Oregon.

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http://dx.doi.org/10.1002/ajmg.a.61112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6488427PMC
June 2019

Concern regarding classification of germline TP53 variants as likely pathogenic.

Hum Mutat 2019 Jun 24;40(6):828-831. Epub 2019 Apr 24.

Manchester Centre for Genomic Medicine and NW Laboratory Genetics Hub, Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom.

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http://dx.doi.org/10.1002/humu.23750DOI Listing
June 2019

Prevalence of germline pathogenic variants in sequential epithelial ovarian cancer cases.

J Med Genet 2019 May 25;56(5):301-307. Epub 2019 Jan 25.

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-2018-105792DOI Listing
May 2019

Women's perceptions of personalized risk-based breast cancer screening and prevention: An international focus group study.

Psychooncology 2019 May 25;28(5):1056-1062. Epub 2019 Mar 25.

Radboud Institute for Health Sciences, Radboud university Medical Center, Nijmegen.

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http://dx.doi.org/10.1002/pon.5051DOI Listing
May 2019

Cancer surveillance, obesity, and potential bias.

Lancet Public Health 2019 May;4(5):e218

Manchester Cancer Research Centre, National Institute for Health Research (NIHR) Manchester Biomedical Research Centre, Manchester M20 4BX, UK; Genomic Medicine, Division of Evolution and Genomic Sciences, Manchester Academic Health Sciences Centre, Manchester Universities Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1016/S2468-2667(19)30058-1DOI Listing
May 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

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study.

Authors:
Frank Qian Shengfeng Wang Jonathan Mitchell Lesley McGuffog Daniel Barrowdale Goska Leslie Jan C Oosterwijk Wendy K Chung D Gareth Evans Christoph Engel Karin Kast Cora M Aalfs Muriel A Adank Julian Adlard Bjarni A Agnarsson Kristiina Aittomäki Elisa Alducci Irene L Andrulis Banu K Arun Margreet G E M Ausems Jacopo Azzollini Emmanuelle Barouk-Simonet Julian Barwell Muriel Belotti Javier Benitez Andreas Berger Ake Borg Angela R Bradbury Joan Brunet Saundra S Buys Trinidad Caldes Maria A Caligo Ian Campbell Sandrine M Caputo Jocelyne Chiquette Kathleen B M Claes J Margriet Collée Fergus J Couch Isabelle Coupier Mary B Daly Rosemarie Davidson Orland Diez Susan M Domchek Alan Donaldson Cecilia M Dorfling Ros Eeles Lidia Feliubadaló Lenka Foretova Jeffrey Fowler Eitan Friedman Debra Frost Patricia A Ganz Judy Garber Vanesa Garcia-Barberan Gord Glendon Andrew K Godwin Encarna B Gómez Garcia Jacek Gronwald Eric Hahnen Ute Hamann Alex Henderson Carolyn B Hendricks John L Hopper Peter J Hulick Evgeny N Imyanitov Claudine Isaacs Louise Izatt Ángel Izquierdo Anna Jakubowska Katarzyna Kaczmarek Eunyoung Kang Beth Y Karlan Carolien M Kets Sung-Won Kim Zisun Kim Ava Kwong Yael Laitman Christine Lasset Min Hyuk Lee Jong Won Lee Jihyoun Lee Jenny Lester Fabienne Lesueur Jennifer T Loud Jan Lubinski Noura Mebirouk Hanne E J Meijers-Heijboer Alfons Meindl Austin Miller Marco Montagna Thea M Mooij Patrick J Morrison Emmanuelle Mouret-Fourme Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Dieter Niederacher Finn C Nielsen Robert L Nussbaum Kenneth Offit Edith Olah Kai-Ren Ong Laura Ottini Sue K Park Paolo Peterlongo Georg Pfeiler Catherine M Phelan Bruce Poppe Nisha Pradhan Paolo Radice Susan J Ramus Johanna Rantala Mark Robson Gustavo C Rodriguez Rita K Schmutzler Christina G Hutten Selkirk Payal D Shah Jacques Simard Christian F Singer Johanna Sokolowska Dominique Stoppa-Lyonnet Christian Sutter Yen Yen Tan R Manuel Teixeira Soo H Teo Mary Beth Terry Mads Thomassen Marc Tischkowitz Amanda E Toland Katherine M Tucker Nadine Tung Christi J van Asperen Klaartje van Engelen Elizabeth J van Rensburg Shan Wang-Gohrke Barbara Wappenschmidt Jeffrey N Weitzel Drakoulis Yannoukakos Mark H Greene Matti A Rookus Douglas F Easton Georgia Chenevix-Trench Antonis C Antoniou David E Goldgar Olufunmilayo I Olopade Timothy R Rebbeck Dezheng Huo

J Natl Cancer Inst 2019 Apr;111(4):350-364

Department of Medicine, The University of Chicago, Chicago, IL.

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https://academic.oup.com/jnci/advance-article/doi/10.1093/jn
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http://dx.doi.org/10.1093/jnci/djy132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6449171PMC
April 2019

Rapid reversal of clinical down-classification of a BRCA1 splicing variant avoiding psychological harm.

Clin Genet 2019 Apr 26;95(4):532-533. Epub 2018 Dec 26.

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

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http://dx.doi.org/10.1111/cge.13488DOI Listing
April 2019

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

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

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

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

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

Phase 0 trial investigating the intratumoural concentration and activity of sorafenib in neurofibromatosis type 2.

J Neurol Neurosurg Psychiatry 2019 Feb 4. Epub 2019 Feb 4.

Institute of Translational and Stratified Medicine, Plymouth University Peninsula Schools of Medicine and Dentistry, Plymouth, UK

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http://dx.doi.org/10.1136/jnnp-2018-319713DOI Listing
February 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 Micro-Costing Study of Screening for Lynch Syndrome-Associated Pathogenic Variants in an Unselected Endometrial Cancer Population: Cheap as NGS Chips?

Front Oncol 2019 26;9:61. Epub 2019 Feb 26.

Gynaecological Oncology Research Group, Division of Cancer Sciences, School of Medical Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom.

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http://dx.doi.org/10.3389/fonc.2019.00061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399107PMC
February 2019

European Breast Cancer Council manifesto 2018: Genetic risk prediction testing in breast cancer.

Eur J Cancer 2019 Jan 22;106:45-53. Epub 2018 Nov 22.

Department of Oncology and Metabolism, University of Sheffield, Sheffield, United Kingdom; Doncaster and Bassetlaw Teaching Hospitals NHS Foundation Trust, Doncaster, United Kingdom.

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https://linkinghub.elsevier.com/retrieve/pii/S09598049183138
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http://dx.doi.org/10.1016/j.ejca.2018.09.019DOI Listing
January 2019

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

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

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

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

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

Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.

JAMA Oncol 2019 Jan;5(1):119-120

Department of Cell Biology and Anatomy, University of Turku, Turku, Finland.

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http://dx.doi.org/10.1001/jamaoncol.2018.6905DOI Listing
January 2019

Shared heritability and functional enrichment across six solid cancers.

Authors:
Xia Jiang Hilary K Finucane Fredrick R Schumacher Stephanie L Schmit Jonathan P Tyrer Younghun Han Kyriaki Michailidou Corina Lesseur Karoline B Kuchenbaecker Joe Dennis David V Conti Graham Casey Mia M Gaudet Jeroen R Huyghe Demetrius Albanes Melinda C Aldrich Angeline S Andrew Irene L Andrulis Hoda Anton-Culver Antonis C Antoniou Natalia N Antonenkova Susanne M Arnold Kristan J Aronson Banu K Arun Elisa V Bandera Rosa B Barkardottir Daniel R Barnes Jyotsna Batra Matthias W Beckmann Javier Benitez Sara Benlloch Andrew Berchuck Sonja I Berndt Heike Bickeböller Stephanie A Bien Carl Blomqvist Stefania Boccia Natalia V Bogdanova Stig E Bojesen Manjeet K Bolla Hiltrud Brauch Hermann Brenner James D Brenton Mark N Brook Joan Brunet Hans Brunnström Daniel D Buchanan Barbara Burwinkel Ralf Butzow Gabriella Cadoni Trinidad Caldés Maria A Caligo Ian Campbell Peter T Campbell Géraldine Cancel-Tassin Lisa Cannon-Albright Daniele Campa Neil Caporaso André L Carvalho Andrew T Chan Jenny Chang-Claude Stephen J Chanock Chu Chen David C Christiani Kathleen B M Claes Frank Claessens Judith Clements J Margriet Collée Marcia Cruz Correa Fergus J Couch Angela Cox Julie M Cunningham Cezary Cybulski Kamila Czene Mary B Daly Anna deFazio Peter Devilee Orland Diez Manuela Gago-Dominguez Jenny L Donovan Thilo Dörk Eric J Duell Alison M Dunning Miriam Dwek Diana M Eccles Christopher K Edlund Digna R Velez Edwards Carolina Ellberg D Gareth Evans Peter A Fasching Robert L Ferris Triantafillos Liloglou Jane C Figueiredo Olivia Fletcher Renée T Fortner Florentia Fostira Silvia Franceschi Eitan Friedman Steven J Gallinger Patricia A Ganz Judy Garber José A García-Sáenz Simon A Gayther Graham G Giles Andrew K Godwin Mark S Goldberg David E Goldgar Ellen L Goode Marc T Goodman Gary Goodman Kjell Grankvist Mark H Greene Henrik Gronberg Jacek Gronwald Pascal Guénel Niclas Håkansson Per Hall Ute Hamann Freddie C Hamdy Robert J Hamilton Jochen Hampe Aage Haugen Florian Heitz Rolando Herrero Peter Hillemanns Michael Hoffmeister Estrid Høgdall Yun-Chul Hong John L Hopper Richard Houlston Peter J Hulick David J Hunter David G Huntsman Gregory Idos Evgeny N Imyanitov Sue Ann Ingles Claudine Isaacs Anna Jakubowska Paul James Mark A Jenkins Mattias Johansson Mikael Johansson Esther M John Amit D Joshi Radka Kaneva Beth Y Karlan Linda E Kelemen Tabea Kühl Kay-Tee Khaw Elza Khusnutdinova Adam S Kibel Lambertus A Kiemeney Jeri Kim Susanne K Kjaer Julia A Knight Manolis Kogevinas Zsofia Kote-Jarai Stella Koutros Vessela N Kristensen Jolanta Kupryjanczyk Martin Lacko Stephan Lam Diether Lambrechts Maria Teresa Landi Philip Lazarus Nhu D Le Eunjung Lee Flavio Lejbkowicz Heinz-Josef Lenz Goska Leslie Davor Lessel Jenny Lester Douglas A Levine Li Li Christopher I Li Annika Lindblom Noralane M Lindor Geoffrey Liu Fotios Loupakis Jan Lubiński Lovise Maehle Christiane Maier Arto Mannermaa Loic Le Marchand Sara Margolin Taymaa May Lesley McGuffog Alfons Meindl Pooja Middha Austin Miller Roger L Milne Robert J MacInnis Francesmary Modugno Marco Montagna Victor Moreno Kirsten B Moysich Lorelei Mucci Kenneth Muir Anna Marie Mulligan Katherine L Nathanson David E Neal Andrew R Ness Susan L Neuhausen Heli Nevanlinna Polly A Newcomb Lisa F Newcomb Finn Cilius Nielsen Liene Nikitina-Zake Børge G Nordestgaard Robert L Nussbaum Kenneth Offit Edith Olah Ali Amin Al Olama Olufunmilayo I Olopade Andrew F Olshan Håkan Olsson Ana Osorio Hardev Pandha Jong Y Park Nora Pashayan Michael T Parsons Tanja Pejovic Kathryn L Penney Wilbert H M Peters Catherine M Phelan Amanda I Phipps Dijana Plaseska-Karanfilska Miranda Pring Darya Prokofyeva Paolo Radice Kari Stefansson Susan J Ramus Leon Raskin Gad Rennert Hedy S Rennert Elizabeth J van Rensburg Marjorie J Riggan Harvey A Risch Angela Risch Monique J Roobol Barry S Rosenstein Mary Anne Rossing Kim De Ruyck Emmanouil Saloustros Dale P Sandler Elinor J Sawyer Matthew B Schabath Johanna Schleutker Marjanka K Schmidt V Wendy Setiawan Hongbing Shen Erin M Siegel Weiva Sieh Christian F Singer Martha L Slattery Karina Dalsgaard Sorensen Melissa C Southey Amanda B Spurdle Janet L Stanford Victoria L Stevens Sebastian Stintzing Jennifer Stone Karin Sundfeldt Rebecca Sutphen Anthony J Swerdlow Eloiza H Tajara Catherine M Tangen Adonina Tardon Jack A Taylor M Dawn Teare Manuel R Teixeira Mary Beth Terry Kathryn L Terry Stephen N Thibodeau Mads Thomassen Line Bjørge Marc Tischkowitz Amanda E Toland Diana Torres Paul A Townsend Ruth C Travis Nadine Tung Shelley S Tworoger Cornelia M Ulrich Nawaid Usmani Celine M Vachon Els Van Nieuwenhuysen Ana Vega Miguel Elías Aguado-Barrera Qin Wang Penelope M Webb Clarice R Weinberg Stephanie Weinstein Mark C Weissler Jeffrey N Weitzel Catharine M L West Emily White Alice S Whittemore H-Erich Wichmann Fredrik Wiklund Robert Winqvist Alicja Wolk Penella Woll Michael Woods Anna H Wu Xifeng Wu Drakoulis Yannoukakos Wei Zheng Shanbeh Zienolddiny Argyrios Ziogas Kristin K Zorn Jacqueline M Lane Richa Saxena Duncan Thomas Rayjean J Hung Brenda Diergaarde James McKay Ulrike Peters Li Hsu Montserrat García-Closas Rosalind A Eeles Georgia Chenevix-Trench Paul J Brennan Christopher A Haiman Jacques Simard Douglas F Easton Stephen B Gruber Paul D P Pharoah Alkes L Price Bogdan Pasaniuc Christopher I Amos Peter Kraft Sara Lindström

Nat Commun 2019 01 25;10(1):431. Epub 2019 Jan 25.

Public Health Sciences Division, Fred Hutchinson Cancer Research Center, 1100 Fairview Ave. N., Seattle, WA, 98109-1024, USA.

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http://dx.doi.org/10.1038/s41467-018-08054-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6347624PMC
January 2019

Schwannomatosis: a genetic and epidemiological study.

J Neurol Neurosurg Psychiatry 2018 Nov 16;89(11):1215-1219. Epub 2018 Jun 16.

Department of Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Division of Evolution and Genomic Science, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1136/jnnp-2018-318538DOI Listing
November 2018

Lifestyle behaviours and health measures of women at increased risk of breast cancer taking chemoprevention.

Eur J Cancer Prev 2018 Nov 15. Epub 2018 Nov 15.

Manchester Breast Centre, Manchester Cancer Research Centre, University of Manchester.

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http://dx.doi.org/10.1097/CEJ.0000000000000493DOI Listing
November 2018

Gene panel testing for breast cancer should not be used to confirm syndromic gene associations.

NPJ Genom Med 2018 26;3:32. Epub 2018 Nov 26.

7Department of Cell Biology and Anatomy, Institute of Biomedicine, University of Turku, Turku, Finland.

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http://dx.doi.org/10.1038/s41525-018-0071-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6255919PMC
November 2018

Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture.

EBioMedicine 2018 Oct 28;36:508-516. Epub 2018 Sep 28.

Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Gilbert Israeli Neurofibromatosis Center, Tel-Aviv Medical Center, Tel-Aviv, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ebiom.2018.09.039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6197713PMC
October 2018

C2 neurofibromas in neurofibromatosis type 1: genetic and imaging characteristics.

J Neurosurg Spine 2018 Oct;30(1):126-132

2Manchester Academic Health Sciences Centre, Division of Evolution and Genomic Sciences, The University of Manchester, United Kingdom.

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http://dx.doi.org/10.3171/2018.7.SPINE171340DOI Listing
October 2018

Risk-reducing mastectomy rates in the US: a closer examination of the Angelina Jolie effect.

Breast Cancer Res Treat 2018 Sep 28;171(2):435-442. Epub 2018 May 28.

Genomic Medicine, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1007/s10549-018-4824-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6096880PMC
September 2018

High-Grade Glioma is not a Feature of Neurofibromatosis Type 2 in the Unirradiated Patient.

Neurosurgery 2018 Aug;83(2):193-196

Department of Manchester Centre for Genomic Medicine, Manchester Academic Health Science Centre, Central Manchester NHS Foundation Trust, Manchester, United Kingdom.

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http://dx.doi.org/10.1093/neuros/nyx374DOI Listing
August 2018

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

The prevalence of Lynch syndrome in women with endometrial cancer: a systematic review protocol.

Syst Rev 2018 08 16;7(1):121. Epub 2018 Aug 16.

Division of Cancer Sciences, Faculty of Biology, Medicine and Health, University of Manchester, St Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.1186/s13643-018-0792-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097297PMC
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

Are we ready for the challenge of implementing risk-based breast cancer screening and primary prevention?

Breast 2018 Jun 10;39:24-32. Epub 2018 Mar 10.

Radboud Institute for Health Sciences, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands; Dutch Expert Center for Screening, PO Box 6873, 6503 GJ Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.breast.2018.02.029DOI Listing
June 2018

Personalized prevention in high risk individuals: Managing hormones and beyond.

Breast 2018 Jun 30;39:139-147. Epub 2018 Mar 30.

Prevent Breast Cancer and Nightingale Breast Screening Centre, Wythenshawe Hospital Manchester Universities Foundation Trust, Manchester, UK; Manchester Academic Health Science Centre, University of Manchester, Manchester, UK; The Christie NHS Foundation Trust, Manchester, UK; Manchester Breast Centre, Manchester Cancer Research Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1016/j.breast.2018.03.009DOI Listing
June 2018

Findings Linking Mismatch Repair Mutation With Age at Endometrial and Ovarian Cancer Onset in Lynch Syndrome-Reply.

JAMA Oncol 2018 Jun;4(6):890-891

Division of Evolution and Genomic Medicine, Faculty of Biology, Medicine and Health, University of Manchester, St Mary's Hospital, Manchester, England.

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http://dx.doi.org/10.1001/jamaoncol.2018.0280DOI Listing
June 2018

Psychological impact of providing women with personalised 10-year breast cancer risk estimates.

Br J Cancer 2018 Jun 8;118(12):1648-1657. Epub 2018 May 8.

Prevent Breast Cancer Centre and Nightingale Breast Screening Centre, University Hospital of South Manchester, Manchester, M23 9LT, UK.

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http://dx.doi.org/10.1038/s41416-018-0069-yDOI Listing
June 2018

Exploring the prediction performance for breast cancer risk based on volumetric mammographic density at different thresholds.

Breast Cancer Res 2018 06 8;20(1):49. Epub 2018 Jun 8.

Centre for Imaging Science, School of Health Sciences, University of Manchester, Stopford Building, Oxford Road, Manchester, M13 9PT, UK.

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http://dx.doi.org/10.1186/s13058-018-0979-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5994123PMC
June 2018

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Authors:
Timothy R Rebbeck Tara M Friebel Eitan Friedman Ute Hamann Dezheng Huo Ava Kwong Edith Olah Olufunmilayo I Olopade Angela R Solano Soo-Hwang Teo Mads Thomassen Jeffrey N Weitzel T L Chan Fergus J Couch David E Goldgar Torben A Kruse Edenir Inêz Palmero Sue Kyung Park Diana Torres Elizabeth J van Rensburg Lesley McGuffog Michael T Parsons Goska Leslie Cora M Aalfs Julio Abugattas Julian Adlard Simona Agata Kristiina Aittomäki Lesley Andrews Irene L Andrulis Adalgeir Arason Norbert Arnold Banu K Arun Ella Asseryanis Leo Auerbach Jacopo Azzollini Judith Balmaña Monica Barile Rosa B Barkardottir Daniel Barrowdale Javier Benitez Andreas Berger Raanan Berger Amie M Blanco Kathleen R Blazer Marinus J Blok Valérie Bonadona Bernardo Bonanni Angela R Bradbury Carole Brewer Bruno Buecher Saundra S Buys Trinidad Caldes Almuth Caliebe Maria A Caligo Ian Campbell Sandrine M Caputo Jocelyne Chiquette Wendy K Chung Kathleen B M Claes J Margriet Collée Jackie Cook Rosemarie Davidson Miguel de la Hoya Kim De Leeneer Antoine de Pauw Capucine Delnatte Orland Diez Yuan Chun Ding Nina Ditsch Susan M Domchek Cecilia M Dorfling Carolina Velazquez Bernd Dworniczak Jacqueline Eason Douglas F Easton Ros Eeles Hans Ehrencrona Bent Ejlertsen Christoph Engel Stefanie Engert D Gareth Evans Laurence Faivre Lidia Feliubadaló Sandra Fert Ferrer Lenka Foretova Jeffrey Fowler Debra Frost Henrique C R Galvão Patricia A Ganz Judy Garber Marion Gauthier-Villars Andrea Gehrig Anne-Marie Gerdes Paul Gesta Giuseppe Giannini Sophie Giraud Gord Glendon Andrew K Godwin Mark H Greene Jacek Gronwald Angelica Gutierrez-Barrera Eric Hahnen Jan Hauke Alex Henderson Julia Hentschel Frans B L Hogervorst Ellen Honisch Evgeny N Imyanitov Claudine Isaacs Louise Izatt Angel Izquierdo Anna Jakubowska Paul James Ramunas Janavicius Uffe Birk Jensen Esther M John Joseph Vijai Katarzyna Kaczmarek Beth Y Karlan Karin Kast KConFab Investigators Sung-Won Kim Irene Konstantopoulou Jacob Korach Yael Laitman Adriana Lasa Christine Lasset Conxi Lázaro Annette Lee Min Hyuk Lee Jenny Lester Fabienne Lesueur Annelie Liljegren Noralane M Lindor Michel Longy Jennifer T Loud Karen H Lu Jan Lubinski Eva Machackova Siranoush Manoukian Véronique Mari Cristina Martínez-Bouzas Zoltan Matrai Noura Mebirouk Hanne E J Meijers-Heijboer Alfons Meindl Arjen R Mensenkamp Ugnius Mickys Austin Miller Marco Montagna Kirsten B Moysich Anna Marie Mulligan Jacob Musinsky Susan L Neuhausen Heli Nevanlinna Joanne Ngeow Huu Phuc Nguyen Dieter Niederacher Henriette Roed Nielsen Finn Cilius Nielsen Robert L Nussbaum Kenneth Offit Anna Öfverholm Kai-Ren Ong Ana Osorio Laura Papi Janos Papp Barbara Pasini Inge Sokilde Pedersen Ana Peixoto Nina Peruga Paolo Peterlongo Esther Pohl Nisha Pradhan Karolina Prajzendanc Fabienne Prieur Pascal Pujol Paolo Radice Susan J Ramus Johanna Rantala Muhammad Usman Rashid Kerstin Rhiem Mark Robson Gustavo C Rodriguez Mark T Rogers Vilius Rudaitis Ane Y Schmidt Rita Katharina Schmutzler Leigha Senter Payal D Shah Priyanka Sharma Lucy E Side Jacques Simard Christian F Singer Anne-Bine Skytte Thomas P Slavin Katie Snape Hagay Sobol Melissa Southey Linda Steele Doris Steinemann Grzegorz Sukiennicki Christian Sutter Csilla I Szabo Yen Y Tan Manuel R Teixeira Mary Beth Terry Alex Teulé Abigail Thomas Darcy L Thull Marc Tischkowitz Silvia Tognazzo Amanda Ewart Toland Sabine Topka Alison H Trainer Nadine Tung Christi J van Asperen Annemieke H van der Hout Lizet E van der Kolk Rob B van der Luijt Mattias Van Heetvelde Liliana Varesco Raymonda Varon-Mateeva Ana Vega Cynthia Villarreal-Garza Anna von Wachenfeldt Lisa Walker Shan Wang-Gohrke Barbara Wappenschmidt Bernhard H F Weber Drakoulis Yannoukakos Sook-Yee Yoon Cristina Zanzottera Jamal Zidan Kristin K Zorn Christina G Hutten Selkirk Peter J Hulick Georgia Chenevix-Trench Amanda B Spurdle Antonis C Antoniou Katherine L Nathanson

Hum Mutat 2018 05 12;39(5):593-620. Epub 2018 Mar 12.

Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA.

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http://dx.doi.org/10.1002/humu.23406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5903938PMC
May 2018

Cost effectiveness of population based BRCA1 founder mutation testing in Sephardi Jewish women.

Am J Obstet Gynecol 2018 04 26;218(4):431.e1-431.e12. Epub 2017 Dec 26.

Centre for Experimental Cancer Medicine, Barts Cancer Institute, Queen Mary University of London, London, United Kingdom; Gynaecological Cancer Research Centre, Department of Women's Cancer, Institute for Women's Health, University College London, London, United Kingdom; Department of Gynaecological Oncology, Barts Health National Health Service Trust, Royal London Hospital, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.ajog.2017.12.221DOI Listing
April 2018

Use of Single-Nucleotide Polymorphisms and Mammographic Density Plus Classic Risk Factors for Breast Cancer Risk Prediction.

JAMA Oncol 2018 Apr;4(4):476-482

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, England.

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http://dx.doi.org/10.1001/jamaoncol.2017.4881DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5885189PMC
April 2018

PARP inhibitors in platinum-sensitive high-grade serous ovarian cancer.

Cancer Chemother Pharmacol 2018 04 20;81(4):647-658. Epub 2018 Feb 20.

Department of Medical Oncology, The Christie NHS Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1007/s00280-018-3532-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5854713PMC
April 2018

Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition.

Authors:
Christos Mikropoulos Christina G Hutten Selkirk Sibel Saya Elizabeth Bancroft Emily Vertosick Tokhir Dadaev Charles Brendler Elizabeth Page Alexander Dias D Gareth Evans Jeanette Rothwell Lovise Maehle Karol Axcrona Kate Richardson Diana Eccles Thomas Jensen Palle J Osther Christi J van Asperen Hans Vasen Lambertus A Kiemeney Janneke Ringelberg Cezary Cybulski Dominika Wokolorczyk Rachel Hart Wayne Glover Jimmy Lam Louise Taylor Monica Salinas Lidia Feliubadaló Rogier Oldenburg Ruben Cremers Gerald Verhaegh Wendy A van Zelst-Stams Jan C Oosterwijk Jackie Cook Derek J Rosario Saundra S Buys Tom Conner Susan Domchek Jacquelyn Powers Margreet G E M Ausems Manuel R Teixeira Sofia Maia Louise Izatt Rita Schmutzler Kerstin Rhiem William D Foulkes Talia Boshari Rosemarie Davidson Marielle Ruijs Apollonia T J M Helderman-van den Enden Lesley Andrews Lisa Walker Katie Snape Alex Henderson Irene Jobson Geoffrey J Lindeman Annelie Liljegren Marion Harris Muriel A Adank Judy Kirk Amy Taylor Rachel Susman Rakefet Chen-Shtoyerman Nicholas Pachter Allan Spigelman Lucy Side Janez Zgajnar Josefina Mora Carole Brewer Neus Gadea Angela F Brady David Gallagher Theo van Os Alan Donaldson Vigdis Stefansdottir Julian Barwell Paul A James Declan Murphy Eitan Friedman Nicola Nicolai Lynn Greenhalgh Elias Obeid Vedang Murthy Lucia Copakova John McGrath Soo-Hwang Teo Sara Strom Karin Kast Daniel A Leongamornlert Anthony Chamberlain Jenny Pope Anna C Newlin Neil Aaronson Audrey Ardern-Jones Chris Bangma Elena Castro David Dearnaley Jorunn Eyfjord Alison Falconer Christopher S Foster Henrik Gronberg Freddie C Hamdy Oskar Johannsson Vincent Khoo Jan Lubinski Eli Marie Grindedal Joanne McKinley Kylie Shackleton Anita V Mitra Clare Moynihan Gad Rennert Mohnish Suri Karen Tricker Sue Moss Zsofia Kote-Jarai Andrew Vickers Hans Lilja Brian T Helfand Rosalind A Eeles

Br J Cancer 2018 03 6;118(6):e17. Epub 2018 Mar 6.

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http://dx.doi.org/10.1038/bjc.2018.11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5877440PMC
March 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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February 2018

Psychosocial issues of a population approach to high genetic risk identification: Behavioural, emotional and informed choice issues.

Breast 2018 Feb 21;37:148-153. Epub 2017 Nov 21.

Prevent Breast Cancer Centre and Nightingale Breast Screening Centre, University Hospital of South Manchester, Manchester, M23 9LT, UK; Manchester Breast Centre, Manchester Cancer Research Centre, University of Manchester, Manchester, M20 4BX, UK; Department of Genomic Medicine, Institute of Human Development, Manchester Academic Health Science Centre (MAHSC), Central Manchester University Hospitals NHS Foundation Trust, Manchester, M13 9WL, UK; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, University Manchester, Manchester, M13 9NT, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S09609776173077
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http://dx.doi.org/10.1016/j.breast.2017.11.008DOI Listing
February 2018

A comparison of five methods of measuring mammographic density: a case-control study.

Breast Cancer Res 2018 02 5;20(1):10. Epub 2018 Feb 5.

Prevent Breast Cancer and Nightingale Breast Screening Centre, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Southmoor Road, Wythenshawe, Manchester, M23 9LT, UK.

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http://dx.doi.org/10.1186/s13058-018-0932-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5799922PMC
February 2018

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Am J Hum Genet 2018 01 28;102(1):69-87. Epub 2017 Dec 28.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777934PMC
January 2018

Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition.

Authors:
Christos Mikropoulos Christina G Hutten Selkirk Sibel Saya Elizabeth Bancroft Emily Vertosick Tokhir Dadaev Charles Brendler Elizabeth Page Alexander Dias D Gareth Evans Jeanette Rothwell Lovise Maehle Karol Axcrona Kate Richardson Diana Eccles Thomas Jensen Palle J Osther Christi J van Asperen Hans Vasen Lambertus A Kiemeney Janneke Ringelberg Cezary Cybulski Dominika Wokolorczyk Rachel Hart Wayne Glover Jimmy Lam Louise Taylor Monica Salinas Lidia Feliubadaló Rogier Oldenburg Ruben Cremers Gerald Verhaegh Wendy A van Zelst-Stams Jan C Oosterwijk Jackie Cook Derek J Rosario Saundra S Buys Tom Conner Susan Domchek Jacquelyn Powers Margreet Gem Ausems Manuel R Teixeira Sofia Maia Louise Izatt Rita Schmutzler Kerstin Rhiem William D Foulkes Talia Boshari Rosemarie Davidson Marielle Ruijs Apollonia Tjm Helderman-van den Enden Lesley Andrews Lisa Walker Katie Snape Alex Henderson Irene Jobson Geoffrey J Lindeman Annelie Liljegren Marion Harris Muriel A Adank Judy Kirk Amy Taylor Rachel Susman Rakefet Chen-Shtoyerman Nicholas Pachter Allan Spigelman Lucy Side Janez Zgajnar Josefina Mora Carole Brewer Neus Gadea Angela F Brady David Gallagher Theo van Os Alan Donaldson Vigdis Stefansdottir Julian Barwell Paul A James Declan Murphy Eitan Friedman Nicola Nicolai Lynn Greenhalgh Elias Obeid Vedang Murthy Lucia Copakova John McGrath Soo-Hwang Teo Sara Strom Karin Kast Daniel A Leongamornlert Anthony Chamberlain Jenny Pope Anna C Newlin Neil Aaronson Audrey Ardern-Jones Chris Bangma Elena Castro David Dearnaley Jorunn Eyfjord Alison Falconer Christopher S Foster Henrik Gronberg Freddie C Hamdy Oskar Johannsson Vincent Khoo Jan Lubinski Eli Marie Grindedal Joanne McKinley Kylie Shackleton Anita V Mitra Clare Moynihan Gad Rennert Mohnish Suri Karen Tricker Sue Moss Zsofia Kote-Jarai Andrew Vickers Hans Lilja Brian T Helfand Rosalind A Eeles

Br J Cancer 2018 01 4;118(2):266-276. Epub 2018 Jan 4.

The Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK.

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http://dx.doi.org/10.1038/bjc.2017.429DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5785754PMC
January 2018

Breast cancer risk in a screening cohort of Asian and white British/Irish women from Manchester UK.

BMC Public Health 2018 01 25;18(1):178. Epub 2018 Jan 25.

Division of Informatics, Imaging and Data Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Oxford Road, Manchester, UK.

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http://dx.doi.org/10.1186/s12889-018-5090-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5784727PMC
January 2018

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

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

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

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

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

Cost-effectiveness of population based BRCA testing with varying Ashkenazi Jewish ancestry.

Am J Obstet Gynecol 2017 11 6;217(5):578.e1-578.e12. Epub 2017 Jul 6.

Department of Health Services Research and Policy, London School of Hygiene and Tropical Medicine, London, UK.

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http://dx.doi.org/10.1016/j.ajog.2017.06.038DOI Listing
November 2017

BRCA and lynch syndrome-associated ovarian cancers behave differently.

Gynecol Oncol Rep 2017 Nov 22;22:108-109. Epub 2017 Nov 22.

Division of Cancer Sciences, Faculty of Biology, Medicine and Health, University of Manchester, St Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.1016/j.gore.2017.11.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5705797PMC
November 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

Genetic Severity Score predicts clinical phenotype in NF2.

J Med Genet 2017 10 28;54(10):657-664. Epub 2017 Aug 28.

Oxford NF2 Unit, Neurosciences, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.

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http://dx.doi.org/10.1136/jmedgenet-2017-104519DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740551PMC
October 2017

A novel and fully automated mammographic texture analysis for risk prediction: results from two case-control studies.

Breast Cancer Res 2017 Oct 18;19(1):114. Epub 2017 Oct 18.

Centre for Imaging Science, School of Health Sciences, University of Manchester, Stopford Building, Oxford Road, Manchester, M13 9PT, UK.

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http://dx.doi.org/10.1186/s13058-017-0906-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5648465PMC
October 2017

A randomised trial of screening with digital breast tomosynthesis plus conventional digital 2D mammography versus 2D mammography alone in younger higher risk women.

Eur J Radiol 2017 Sep 30;94:133-139. Epub 2017 Jun 30.

Medical Statistics, University Hospital of South Manchester, Manchester, M23 9LT, UK; Centre for Biostatistics, School of Health Sciences, University of Manchester, Manchester, M13 9PL, UK. Electronic address:

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September 2017

Association of Genetic Predisposition With Solitary Schwannoma or Meningioma in Children and Young Adults.

JAMA Neurol 2017 09;74(9):1123-1129

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, England.

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http://dx.doi.org/10.1001/jamaneurol.2017.1406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5710179PMC
September 2017

Evaluation of a Stratified National Breast Screening Program in the United Kingdom: An Early Model-Based Cost-Effectiveness Analysis.

Value Health 2017 09 1;20(8):1100-1109. Epub 2017 Jun 1.

Manchester Centre for Health Economics, University of Manchester, Manchester, UK. Electronic address:

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September 2017

First evidence of genotype-phenotype correlations in Gorlin syndrome.

J Med Genet 2017 08 8;54(8):530-536. Epub 2017 Jun 8.

Department of Dermatology, MAHSC, Salford Royal Foundation Trust, Salford, UK.

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August 2017

Increased risk of breast cancer in neurofibromatosis type 1: current insights.

Breast Cancer (Dove Med Press) 2017 21;9:531-536. Epub 2017 Aug 21.

Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre.

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http://dx.doi.org/10.2147/BCTT.S111397DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5573065PMC
August 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://dx.doi.org/10.1200/JCO.2016.69.4935DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501359PMC
July 2017

Cranial irradiation in childhood mimicking neurofibromatosis type II.

Am J Med Genet A 2017 Jun 19;173(6):1635-1639. Epub 2017 Apr 19.

The Gilbert Israeli Neurofibromatosis Center, Tel-Aviv Medical Center, Tel-Aviv, Israel.

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http://dx.doi.org/10.1002/ajmg.a.38211DOI Listing
June 2017

Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 2 and Related Disorders.

Clin Cancer Res 2017 Jun;23(12):e54-e61

Division of Haematology/Oncology, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1158/1078-0432.CCR-17-0590DOI Listing
June 2017

Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome.

Clin Cancer Res 2017 Jun;23(12):e62-e67

Dana-Farber/Boston Children's Cancer and Blood Disorders Center and Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1158/1078-0432.CCR-17-0595DOI Listing
June 2017

Evidence of Stage Shift in Women Diagnosed With Ovarian Cancer During Phase II of the United Kingdom Familial Ovarian Cancer Screening Study.

J Clin Oncol 2017 May 27;35(13):1411-1420. Epub 2017 Feb 27.

Adam N. Rosenthal, Lindsay S.M. Fraser, Susan Philpott, Ranjit Manchanda, Matthew Burnell, Philip Badman, Richard Hadwin, Ivana Rizzuto, Andy Ryan, Robert Liston, Jeremy Ford, Richard Gunu, Usha Menon, and Ian J. Jacobs, University College London Elizabeth Garrett Anderson Institute for Women's Health; Elizabeth Benjamin, University College London; Naveena Singh, Barts Health National Health Service Trust; Ranjit Manchanda, Barts Cancer Institute, Queen Mary University of London; Anne Dawnay, University College London Hospital; James Mackay, The University College London Cancer Institute, London; D. Gareth Evans, University of Manchester, St Mary's Hospital Manchester, Manchester; Diana M. Eccles, Southampton General Hospital, Southampton, United Kingdom; Steven J. Skates, Massachusetts General Hospital and Harvard Medical School, Boston, MA; and Ian J. Jacobs, University of New South Wales Australia, Sydney, New South Wales, Australia.

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http://ascopubs.org/doi/10.1200/JCO.2016.69.9330
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http://dx.doi.org/10.1200/JCO.2016.69.9330DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5455461PMC
May 2017

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.

Authors:
Catherine M Phelan Karoline B Kuchenbaecker Jonathan P Tyrer Siddhartha P Kar Kate Lawrenson Stacey J Winham Joe Dennis Ailith Pirie Marjorie J Riggan Ganna Chornokur Madalene A Earp Paulo C Lyra Janet M Lee Simon Coetzee Jonathan Beesley Lesley McGuffog Penny Soucy Ed Dicks Andrew Lee Daniel Barrowdale Julie Lecarpentier Goska Leslie Cora M Aalfs Katja K H Aben Marcia Adams Julian Adlard Irene L Andrulis Hoda Anton-Culver Natalia Antonenkova Gerasimos Aravantinos Norbert Arnold Banu K Arun Brita Arver Jacopo Azzollini Judith Balmaña Susana N Banerjee Laure Barjhoux Rosa B Barkardottir Yukie Bean Matthias W Beckmann Alicia Beeghly-Fadiel Javier Benitez Marina Bermisheva Marcus Q Bernardini Michael J Birrer Line Bjorge Amanda Black Kenneth Blankstein Marinus J Blok Clara Bodelon Natalia Bogdanova Anders Bojesen Bernardo Bonanni Åke Borg Angela R Bradbury James D Brenton Carole Brewer Louise Brinton Per Broberg Angela Brooks-Wilson Fiona Bruinsma Joan Brunet Bruno Buecher Ralf Butzow Saundra S Buys Trinidad Caldes Maria A Caligo Ian Campbell Rikki Cannioto Michael E Carney Terence Cescon Salina B Chan Jenny Chang-Claude Stephen Chanock Xiao Qing Chen Yoke-Eng Chiew Jocelyne Chiquette Wendy K Chung Kathleen B M Claes Thomas Conner Linda S Cook Jackie Cook Daniel W Cramer Julie M Cunningham Aimee A D'Aloisio Mary B Daly Francesca Damiola Sakaeva Dina Damirovna Agnieszka Dansonka-Mieszkowska Fanny Dao Rosemarie Davidson Anna DeFazio Capucine Delnatte Kimberly F Doheny Orland Diez Yuan Chun Ding Jennifer Anne Doherty Susan M Domchek Cecilia M Dorfling Thilo Dörk Laure Dossus Mercedes Duran Matthias Dürst Bernd Dworniczak Diana Eccles Todd Edwards Ros Eeles Ursula Eilber Bent Ejlertsen Arif B Ekici Steve Ellis Mingajeva Elvira Kevin H Eng Christoph Engel D Gareth Evans Peter A Fasching Sarah Ferguson Sandra Fert Ferrer James M Flanagan Zachary C Fogarty Renée T Fortner Florentia Fostira William D Foulkes George Fountzilas Brooke L Fridley Tara M Friebel Eitan Friedman Debra Frost Patricia A Ganz Judy Garber María J García Vanesa Garcia-Barberan Andrea Gehrig Aleksandra Gentry-Maharaj Anne-Marie Gerdes Graham G Giles Rosalind Glasspool Gord Glendon Andrew K Godwin David E Goldgar Teodora Goranova Martin Gore Mark H Greene Jacek Gronwald Stephen Gruber Eric Hahnen Christopher A Haiman Niclas Håkansson Ute Hamann Thomas V O Hansen Patricia A Harrington Holly R Harris Jan Hauke Alexander Hein Alex Henderson Michelle A T Hildebrandt Peter Hillemanns Shirley Hodgson Claus K Høgdall Estrid Høgdall Frans B L Hogervorst Helene Holland Maartje J Hooning Karen Hosking Ruea-Yea Huang Peter J Hulick Jillian Hung David J Hunter David G Huntsman Tomasz Huzarski Evgeny N Imyanitov Claudine Isaacs Edwin S Iversen Louise Izatt Angel Izquierdo Anna Jakubowska Paul James Ramunas Janavicius Mats Jernetz Allan Jensen Uffe Birk Jensen Esther M John Sharon Johnatty Michael E Jones Päivi Kannisto Beth Y Karlan Anthony Karnezis Karin Kast Catherine J Kennedy Elza Khusnutdinova Lambertus A Kiemeney Johanna I Kiiski Sung-Won Kim Susanne K Kjaer Martin Köbel Reidun K Kopperud Torben A Kruse Jolanta Kupryjanczyk Ava Kwong Yael Laitman Diether Lambrechts Nerea Larrañaga Melissa C Larson Conxi Lazaro Nhu D Le Loic Le Marchand Jong Won Lee Shashikant B Lele Arto Leminen Dominique Leroux Jenny Lester Fabienne Lesueur Douglas A Levine Dong Liang Clemens Liebrich Jenna Lilyquist Loren Lipworth Jolanta Lissowska Karen H Lu Jan Lubinński Craig Luccarini Lene Lundvall Phuong L Mai Gustavo Mendoza-Fandiño Siranoush Manoukian Leon F A G Massuger Taymaa May Sylvie Mazoyer Jessica N McAlpine Valerie McGuire John R McLaughlin Iain McNeish Hanne Meijers-Heijboer Alfons Meindl Usha Menon Arjen R Mensenkamp Melissa A Merritt Roger L Milne Gillian Mitchell Francesmary Modugno Joanna Moes-Sosnowska Melissa Moffitt Marco Montagna Kirsten B Moysich Anna Marie Mulligan Jacob Musinsky Katherine L Nathanson Lotte Nedergaard Roberta B Ness Susan L Neuhausen Heli Nevanlinna Dieter Niederacher Robert L Nussbaum Kunle Odunsi Edith Olah Olufunmilayo I Olopade Håkan Olsson Curtis Olswold David M O'Malley Kai-Ren Ong N Charlotte Onland-Moret Nicholas Orr Sandra Orsulic Ana Osorio Domenico Palli Laura Papi Tjoung-Won Park-Simon James Paul Celeste L Pearce Inge Søkilde Pedersen Petra H M Peeters Bernard Peissel Ana Peixoto Tanja Pejovic Liisa M Pelttari Jennifer B Permuth Paolo Peterlongo Lidia Pezzani Georg Pfeiler Kelly-Anne Phillips Marion Piedmonte Malcolm C Pike Anna M Piskorz Samantha R Poblete Timea Pocza Elizabeth M Poole Bruce Poppe Mary E Porteous Fabienne Prieur Darya Prokofyeva Elizabeth Pugh Miquel Angel Pujana Pascal Pujol Paolo Radice Johanna Rantala Christine Rappaport-Fuerhauser Gad Rennert Kerstin Rhiem Patricia Rice Andrea Richardson Mark Robson Gustavo C Rodriguez Cristina Rodríguez-Antona Jane Romm Matti A Rookus Mary Anne Rossing Joseph H Rothstein Anja Rudolph Ingo B Runnebaum Helga B Salvesen Dale P Sandler Minouk J Schoemaker Leigha Senter V Wendy Setiawan Gianluca Severi Priyanka Sharma Tameka Shelford Nadeem Siddiqui Lucy E Side Weiva Sieh Christian F Singer Hagay Sobol Honglin Song Melissa C Southey Amanda B Spurdle Zsofia Stadler Doris Steinemann Dominique Stoppa-Lyonnet Lara E Sucheston-Campbell Grzegorz Sukiennicki Rebecca Sutphen Christian Sutter Anthony J Swerdlow Csilla I Szabo Lukasz Szafron Yen Y Tan Jack A Taylor Muy-Kheng Tea Manuel R Teixeira Soo-Hwang Teo Kathryn L Terry Pamela J Thompson Liv Cecilie Vestrheim Thomsen Darcy L Thull Laima Tihomirova Anna V Tinker Marc Tischkowitz Silvia Tognazzo Amanda Ewart Toland Alicia Tone Britton Trabert Ruth C Travis Antonia Trichopoulou Nadine Tung Shelley S Tworoger Anne M van Altena David Van Den Berg Annemarie H van der Hout Rob B van der Luijt Mattias Van Heetvelde Els Van Nieuwenhuysen Elizabeth J van Rensburg Adriaan Vanderstichele Raymonda Varon-Mateeva Ana Vega Digna Velez Edwards Ignace Vergote Robert A Vierkant Joseph Vijai Athanassios Vratimos Lisa Walker Christine Walsh Dorothea Wand Shan Wang-Gohrke Barbara Wappenschmidt Penelope M Webb Clarice R Weinberg Jeffrey N Weitzel Nicolas Wentzensen Alice S Whittemore Juul T Wijnen Lynne R Wilkens Alicja Wolk Michelle Woo Xifeng Wu Anna H Wu Hannah Yang Drakoulis Yannoukakos Argyrios Ziogas Kristin K Zorn Steven A Narod Douglas F Easton Christopher I Amos Joellen M Schildkraut Susan J Ramus Laura Ottini Marc T Goodman Sue K Park Linda E Kelemen Harvey A Risch Mads Thomassen Kenneth Offit Jacques Simard Rita Katharina Schmutzler Dennis Hazelett Alvaro N Monteiro Fergus J Couch Andrew Berchuck Georgia Chenevix-Trench Ellen L Goode Thomas A Sellers Simon A Gayther Antonis C Antoniou Paul D P Pharoah

Nat Genet 2017 May 27;49(5):680-691. Epub 2017 Mar 27.

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

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http://dx.doi.org/10.1038/ng.3826DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5612337PMC
May 2017

Neurofibromatosis type 2: Multiple intra-dermal tumors in a toddler.

Am J Med Genet A 2017 May 3;173(5):1447-1449. Epub 2017 Apr 3.

University of Manchester, Division of Evolution and Genomic Science, St Mary's Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.38177DOI Listing
May 2017

The impact of a panel of 18 SNPs on breast cancer risk in women attending a UK familial screening clinic: a case-control study.

J Med Genet 2017 02 28;54(2):111-113. Epub 2016 Oct 28.

Centre for Cancer Prevention, Wolfson Institute of Preventive Medicine, Queen Mary University of London, London, UK.

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http://dx.doi.org/10.1136/jmedgenet-2016-104125DOI Listing
February 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

Toxicity profile of bevacizumab in the UK Neurofibromatosis type 2 cohort.

J Neurooncol 2017 01 28;131(1):117-124. Epub 2016 Oct 28.

Department of Neurology, Neurofibromatosis Service, Guy's & St Thomas' Hospital, Great Maze Pond, London, SE1 9RT, UK.

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http://dx.doi.org/10.1007/s11060-016-2276-9DOI Listing
January 2017

Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis.

Neurology 2017 Jan 16;88(1):87-92. Epub 2016 Nov 16.

From the Centre for Genomic Medicine, Division of Evolution and Genomic Science, School of Biological Sciences, St Mary's Hospital (M.J.S., N.L.B., M.B., C.G., A.J.W., D.G.E.), Department of Otolaryngology, Manchester Royal Infirmary (S.K.L.L., S.R.F.), and the Department of Neurosurgery, Salford Royal Foundation Trust (A.T.K., S.A.R., C.L.H.-W.), Manchester Academic Health Sciences Centre, University of Manchester, UK.

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http://dx.doi.org/10.1212/WNL.0000000000003418DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5200853PMC
January 2017

Identifying High-Risk Women for Endometrial Cancer Prevention Strategies: Proposal of an Endometrial Cancer Risk Prediction Model.

Cancer Prev Res (Phila) 2017 Jan 13;10(1):1-13. Epub 2016 Dec 13.

Division of Molecular and Clinical Cancer Sciences, Faculty of Biology, Medicine and Health, University of Manchester, St Mary's Hospital, Manchester, United Kingdom.

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http://dx.doi.org/10.1158/1940-6207.CAPR-16-0224DOI Listing
January 2017

Bevacizumab in neurofibromatosis type 2 (NF2) related vestibular schwannomas: a nationally coordinated approach to delivery and prospective evaluation.

Neurooncol Pract 2016 Dec 7;3(4):281-289. Epub 2016 Jan 7.

Nuffield Department of Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, UK (K.A.M., A.P.); University of New South Wales, St Vincent's Clinical School, Darlinghurst, Australia (K.A.M.); University of Westminster, London, UK (J.F.G.); Institute of Psychiatry, King's College, London, UK (J.F.G., R.E.F.); Addenbrooke's Hospital, Cambridge, UK (P.R.A.); Department of Neurology, Guy's & St Thomas' Hospital, London, UK (S.A., R.E.F.); Oxford University Hospitals NHS Trust, Oxford, UK (D.H., C.B., A.P., P.M.P.); Department of Oncology, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK (R.J.); Genomic Medicine, Institute of Human Development, MAHSC, University of Manchester, St Mary's Hospital, Manchester, UK (D.G.E.); Centre for Paediatric, Teenage and Young Adult Cancer, Institute of Cancer Sciences, University of Manchester, Manchester, UK (M.G.M.).

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https://academic.oup.com/nop/article-lookup/doi/10.1093/nop/
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http://dx.doi.org/10.1093/nop/npv065DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5909937PMC
December 2016

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women.

Authors:
Timothy R Rebbeck Tara M Friebel Nandita Mitra Fei Wan Stephanie Chen Irene L Andrulis Paraskevi Apostolou Norbert Arnold Banu K Arun Daniel Barrowdale Javier Benitez Raanan Berger Pascaline Berthet Ake Borg Saundra S Buys Trinidad Caldes Jonathan Carter Jocelyne Chiquette Kathleen B M Claes Fergus J Couch Cezary Cybulski Mary B Daly Miguel de la Hoya Orland Diez Susan M Domchek Katherine L Nathanson Katarzyna Durda Steve Ellis D Gareth Evans Lenka Foretova Eitan Friedman Debra Frost Patricia A Ganz Judy Garber Gord Glendon Andrew K Godwin Mark H Greene Jacek Gronwald Eric Hahnen Emily Hallberg Ute Hamann Thomas V O Hansen Evgeny N Imyanitov Claudine Isaacs Anna Jakubowska Ramunas Janavicius Katarzyna Jaworska-Bieniek Esther M John Beth Y Karlan Bella Kaufman KConFab Investigators Ava Kwong Yael Laitman Christine Lasset Conxi Lazaro Jenny Lester Niklas Loman Jan Lubinski Siranoush Manoukian Gillian Mitchell Marco Montagna Susan L Neuhausen Heli Nevanlinna Dieter Niederacher Robert L Nussbaum Kenneth Offit Edith Olah Olufunmilayo I Olopade Sue Kyung Park Marion Piedmonte Paolo Radice Christine Rappaport-Fuerhauser Matti A Rookus Caroline Seynaeve Jacques Simard Christian F Singer Penny Soucy Melissa Southey Dominique Stoppa-Lyonnet Grzegorz Sukiennicki Csilla I Szabo Mariella Tancredi Manuel R Teixeira Soo-Hwang Teo Mary Beth Terry Mads Thomassen Laima Tihomirova Marc Tischkowitz Amanda Ewart Toland Aleksandra Toloczko-Grabarek Nadine Tung Elizabeth J van Rensburg Danylo Villano Shan Wang-Gohrke Barbara Wappenschmidt Jeffrey N Weitzel Jamal Zidan Kristin K Zorn Lesley McGuffog Douglas Easton Georgia Chenevix-Trench Antonis C Antoniou Susan J Ramus

Breast Cancer Res 2016 11 11;18(1):112. Epub 2016 Nov 11.

Department of Preventive Medicine, Keck School of Medicine, USC/Norris Comprehensive Cancer Center, University of Southern California, California, USA.

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http://breast-cancer-research.biomedcentral.com/articles/10.
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http://dx.doi.org/10.1186/s13058-016-0768-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5106833PMC
November 2016