Huw Dorkins

Huw Dorkins

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Huw Dorkins

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in 2019: looking forward, looking back.

Authors:
Huw Dorkins

J Med Genet 2019 Jul;56(7):419

St Peter's College, University of Oxford, Oxford, UK

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http://dx.doi.org/10.1136/jmedgenet-2019-106308DOI Listing
July 2019

Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects.

Hum Mol Genet 2016 05 21;25(9):1824-35. Epub 2016 Feb 21.

Clinical Genetics, Children's University Hospital, Temple Street, Dublin 1, Ireland, UCD Academic Centre on Rare Diseases, School of Medicine and Medical Sciences.

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http://dx.doi.org/10.1093/hmg/ddw054DOI Listing
May 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

Population testing for cancer predisposing BRCA1/BRCA2 mutations in the Ashkenazi-Jewish community: a randomized controlled trial.

J Natl Cancer Inst 2015 Jan 30;107(1):379. Epub 2014 Nov 30.

Affiliation of authors: Department of Women's Cancer, EGA Institute for Women's Health, University College London, London, UK (RM, KL, MB, SG, LS, NB, RD, UM, IJ); Department of Gynaecological Oncology, St Bartholomew's Hospital, London, UK (RM); Mount Sinai School of Medicine, New York, NY (SS); Behavioral Sciences Unit, Department of Epidemiology and Public Health, University College London, London, UK (JW); Department of Clinical Genetics, North East Thames Regional Genetics Unit, Great Ormond Street Hospital, London, UK (AK); Department of Clinical Genetics, North West Thames Regional Genetics Unit, Northwick Park Hospital, London, UK (HD); West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK (YW); Department of Clinical Genetics, West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK (CC); South West Thames Molecular Genetics Diagnostic Laboratory, St George's Hospital, London, UK (RT); Department of Clinical Genetics, Guy's Hospital, London, UK (CJ); London Research Institute, Cancer Research UK (IT); Department of Health Economics, London School of Economics, London, UK (AM); Department of Gynaecology, Shaare Zedek Medical Center, Jerusalem, Israel (UB); Faculty of Medical and Human Sciences, University of Manchester, Oxford Road, Manchester, UK (IJ).

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http://dx.doi.org/10.1093/jnci/dju379DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4301703PMC
January 2015

Cost-effectiveness of population screening for BRCA mutations in Ashkenazi jewish women compared with family history-based testing.

J Natl Cancer Inst 2015 Jan 30;107(1):380. Epub 2014 Nov 30.

Department of Gynaecological Oncology, St. Bartholomew's Hospital, West Smithfield, London, UK, (RM); Department of Women's Cancer, EGA Institute for Women's Health, University College London, London, UK (RM, MB, KL, SG, LS, NB, RD, UM, IJ); Department of Health Services Research and Policy, London School of Hygiene and Tropical Medicine, London, UK (RL); Department of Health Economics, London School of Economics, Houghton Street, London, UK (AM, MR); Behavioural Sciences Unit, Department of Epidemiology and Public Health, University College London, London, UK (JW); Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY (SS); Department of Clinical Genetics, North East Thames Regional Genetics Unit, Great Ormond Street Hospital, London, UK (AK); NW Thames Regional Genetics Service, Kennedy Galton Centre, Middlesex, UK (HD); West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK (YW); Department of Clinical Genetics, West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK (CC); South West Thames Molecular Genetics Diagnostic Laboratory, St George's University of London, London, UK (RT); Department of Clinical Genetics, Guy's Hospital, London, UK (CJ); Welcome Trust Centre for Human Genetics, Roosevelt Drive, Headington Oxford, UK (IT); Department Gynaecology, Shaare Zedek Medical Centre, The Hebrew University of Jerusalem, Jerusalem, Israel (UB); School of Medicine, Faculty of Medical and Human Sciences & Manchester Academic Health Science Center, University of Manchester, Manchester, UK (IJ).

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http://dx.doi.org/10.1093/jnci/dju380DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4301704PMC
January 2015

Lymphocyte telomere length is long in BRCA1 and BRCA2 mutation carriers regardless of cancer-affected status.

Cancer Epidemiol Biomarkers Prev 2014 Jun 18;23(6):1018-24. Epub 2014 Mar 18.

Authors' Affiliations: Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care; Centre for Cancer Genetic Epidemiology, Department of Oncology, Strangeways Research Laboratory, University of Cambridge; Department of Epigenetics, Babraham Institute, Babraham Research Campus; Department of Medical Genetics, University of Cambridge, Cambridge; South East Thames Regional Genetics Service, Guy's Hospital; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust; Clinical Genetics Department, St. Georges Hospital, University of London, London; Yorkshire Regional Genetics Service, Leeds; Leicestershire Clinical Genetics Service, University Hospitals of Leicester NHS Trust; Department of Clinical Genetics, Royal Devon & Exeter Hospital, Exeter; West Midlands Regional Genetics Service, Birmingham Women's Hospital Healthcare NHS Trust, Edgbaston, Birmingham;Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield; Ferguson-Smith Centre for Clinical Genetics, Yorkhill Hospitals, Glasgow; South West Regional Genetics Service, Bristol; North West Thames Regional Genetics Service, Kennedy-Galton Centre, Harrow; Institute of Human Genetics, Centre for Life, Newcastle Upon Tyne Hospitals NHS Trust, Newcastle upon Tyne; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust; Cheshire & Merseyside Clinical Genetics Service, Liverpool Women's NHS Foundation Trust, Liverpool; All Wales Medical Genetics Service, Glan Clwyd Hospital, Rhyl; North of Scotland Regional Genetics Service, NHS Grampian & University of Aberdeen, Foresterhill, Aberdeen; All Wales Medical Genetics Services, Singleton Hospital, Swansea; South East of Scotland Regional Genetics Service, Western General Hospital, Edinburgh; All Wales Medical Genetics Services, University Hospital of Wales, Cardiff; Oxford Regional Genetics Service, Churchill Hospital, Oxford; Wessex Clinical Genetics Service, Princess A

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http://dx.doi.org/10.1158/1055-9965.EPI-13-0635-TDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266102PMC
June 2014

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

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

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

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

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

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

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

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

End-stage renal failure associated with congenital deafness.

NDT Plus 2008 Jun 27;1(3):171-5. Epub 2008 Mar 27.

Department of Nephrology , Imperial College , London.

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http://dx.doi.org/10.1093/ndtplus/sfn019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421173PMC
June 2008

RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies.

Am J Hum Genet 2007 Dec 16;81(6):1186-200. Epub 2007 Oct 16.

Cancer Research UK, Genetic Epidemiology Unit, Strangeways Research Laboratory, Cambridge, CB1 8RN, UK.

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http://linkinghub.elsevier.com/retrieve/pii/S000292970763768
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http://dx.doi.org/10.1086/522611DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2276351PMC
December 2007

The management of families affected by hereditary non-polyposis colorectal cancer (HNPCC).

Fam Cancer 2007 ;6(1):13-9

Department of Medical Genetics, St George's University of London, Cranmer Terrace, London SW17 0RE, UK.

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http://link.springer.com/10.1007/s10689-006-9000-4
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http://dx.doi.org/10.1007/s10689-006-9000-4DOI Listing
September 2007

SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism.

Hum Genet 2002 Aug 6;111(2):198-206. Epub 2002 Jul 6.

INSERM U468, Génétique Moléculaire et Physiopathologie, and Laboratoire de Biochimie, Hôpital Henri Mondor, 94010 Créteil Cedex, France.

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http://dx.doi.org/10.1007/s00439-002-0765-8DOI Listing
August 2002