Jacqueline Eason

Jacqueline Eason

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Jacqueline Eason

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Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers.

Authors:
Frank Qian Matti A Rookus Goska Leslie Harvey A Risch Mark H Greene Cora M Aalfs Muriel A Adank Julian Adlard Bjarni A Agnarsson Munaza Ahmed Kristiina Aittomäki Irene L Andrulis Norbert Arnold Banu K Arun Margreet G E M Ausems Jacopo Azzollini Daniel Barrowdale Julian Barwell Javier Benitez Katarzyna Białkowska Valérie Bonadona Julika Borde Ake Borg Angela R Bradbury Joan Brunet Saundra S Buys Trinidad Caldés Maria A Caligo Ian Campbell Jonathan Carter Jocelyne Chiquette Wendy K Chung Kathleen B M Claes J Margriet Collée Marie-Agnès Collonge-Rame Fergus J Couch Mary B Daly Capucine Delnatte Orland Diez Susan M Domchek Cecilia M Dorfling Jacqueline Eason Douglas F Easton Ros Eeles Christoph Engel D Gareth Evans Laurence Faivre Lidia Feliubadaló Lenka Foretova Eitan Friedman Debra Frost Patricia A Ganz Judy Garber Vanesa Garcia-Barberan Andrea Gehrig Gord Glendon Andrew K Godwin Encarna B Gómez Garcia Ute Hamann Jan Hauke John L Hopper Peter J Hulick Evgeny N Imyanitov Claudine Isaacs Louise Izatt Anna Jakubowska Ramunas Janavicius Esther M John Beth Y Karlan Carolien M Kets Yael Laitman Conxi Lázaro Dominique Leroux Jenny Lester Fabienne Lesueur Jennifer T Loud Jan Lubiński Alicja Łukomska Lesley McGuffog Noura Mebirouk Hanne E J Meijers-Heijboer Alfons Meindl Austin Miller Marco Montagna Thea M Mooij Emmanuelle Mouret-Fourme Katherine L Nathanson Bita Nehoray Susan L Neuhausen Heli Nevanlinna Finn C Nielsen Kenneth Offit Edith Olah Kai-Ren Ong Jan C Oosterwijk Laura Ottini Michael T Parsons Paolo Peterlongo Georg Pfeiler Nisha Pradhan Paolo Radice Susan J Ramus Johanna Rantala Gad Rennert Mark Robson Gustavo C Rodriguez Ritu Salani Maren T Scheuner Rita K Schmutzler Payal D Shah Lucy E Side Jacques Simard Christian F Singer Doris Steinemann Dominique Stoppa-Lyonnet Yen Yen Tan Manuel R Teixeira Mary Beth Terry Mads Thomassen Marc Tischkowitz Silvia Tognazzo Amanda E Toland Nadine Tung Christi J van Asperen Klaartje van Engelen Elizabeth J van Rensburg Laurence Venat-Bouvet Jeroen Vierstraete Gabriel Wagner Lisa Walker Jeffrey N Weitzel Drakoulis Yannoukakos Antonis C Antoniou David E Goldgar Olufunmilayo I Olopade Georgia Chenevix-Trench Timothy R Rebbeck Dezheng Huo

Br J Cancer 2019 Jul 19;121(2):180-192. Epub 2019 Jun 19.

Center for Clinical Cancer Genetics, The University of Chicago, Chicago, IL, USA.

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http://dx.doi.org/10.1038/s41416-019-0492-8DOI Listing
July 2019

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Am J Hum Genet 2018 06 31;102(6):1195-1203. Epub 2018 May 31.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183016
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http://dx.doi.org/10.1016/j.ajhg.2018.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992133PMC
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

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 of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers.

Authors:
David G Cox Jacques Simard Daniel Sinnett Yosr Hamdi Penny Soucy Manon Ouimet Laure Barjhoux Carole Verny-Pierre Lesley McGuffog Sue Healey Csilla Szabo Mark H Greene Phuong L Mai Irene L Andrulis Mads Thomassen Anne-Marie Gerdes Maria A Caligo Eitan Friedman Yael Laitman Bella Kaufman Shani S Paluch Åke Borg Per Karlsson Marie Stenmark Askmalm Gisela Barbany Bustinza Katherine L Nathanson Susan M Domchek Timothy R Rebbeck Javier Benítez Ute Hamann Matti A Rookus Ans M W van den Ouweland Margreet G E M Ausems Cora M Aalfs Christi J van Asperen Peter Devilee Hans J J P Gille Susan Peock Debra Frost D Gareth Evans Ros Eeles Louise Izatt Julian Adlard Joan Paterson Jacqueline Eason Andrew K Godwin Marie-Alice Remon Virginie Moncoutier Marion Gauthier-Villars Christine Lasset Sophie Giraud Agnès Hardouin Pascaline Berthet Hagay Sobol François Eisinger Brigitte Bressac de Paillerets Olivier Caron Capucine Delnatte David Goldgar Alex Miron Hilmi Ozcelik Saundra Buys Melissa C Southey Mary Beth Terry Christian F Singer Anne-Catharina Dressler Muy-Kheng Tea Thomas V O Hansen Oskar Johannsson Marion Piedmonte Gustavo C Rodriguez Jack B Basil Stephanie Blank Amanda E Toland Marco Montagna Claudine Isaacs Ignacio Blanco Simon A Gayther Kirsten B Moysich Rita K Schmutzler Barbara Wappenschmidt Christoph Engel Alfons Meindl Nina Ditsch Norbert Arnold Dieter Niederacher Christian Sutter Dorothea Gadzicki Britta Fiebig Trinidad Caldes Rachel Laframboise Heli Nevanlinna Xiaoqing Chen Jonathan Beesley Amanda B Spurdle Susan L Neuhausen Yuan C Ding Fergus J Couch Xianshu Wang Paolo Peterlongo Siranoush Manoukian Loris Bernard Paolo Radice Douglas F Easton Georgia Chenevix-Trench Antonis C Antoniou Dominique Stoppa-Lyonnet Sylvie Mazoyer Olga M Sinilnikova

Hum Mol Genet 2011 Dec 2;20(23):4732-47. Epub 2011 Sep 2.

INSERM U1052, CNRS UMR5286, Université Lyon 1, Cancer Research Center of Lyon, Lyon, France.

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http://hmg.oxfordjournals.org/content/20/23/4732.full.pdf
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddr388
Publisher Site
http://dx.doi.org/10.1093/hmg/ddr388DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3733139PMC
December 2011

Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects.

Hum Mol Genet 2010 Oct 23;19(20):4007-16. Epub 2010 Jul 23.

Institute of Genetics, School of Biology, Queen’s Medical Centre, University of Nottingham, Nottingham, UK.

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http://dx.doi.org/10.1093/hmg/ddq315DOI Listing
October 2010

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

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

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

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

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

Alpha-cardiac actin mutations produce atrial septal defects.

Hum Mol Genet 2008 Jan 18;17(2):256-65. Epub 2007 Oct 18.

Department of Genetics and Pathology, The Rudbeck Laboratory, Uppsala University and University Hospital, S-75185 Uppsala, Sweden.

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http://dx.doi.org/10.1093/hmg/ddm302DOI Listing
January 2008