Sophie Giraud

Sophie Giraud

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Sophie Giraud

Sophie Giraud

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Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants.

Hum Mutat 2019 Jun 28;40(6):661-674. Epub 2019 Mar 28.

Aix Marseille Univ, APHM, INSERM, MMG, Laboratory of Molecular Biology Hospital La Conception, Marseille, France.

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http://dx.doi.org/10.1002/humu.23746DOI Listing
June 2019

Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.

Int J Cancer 2019 04 13;144(8):1962-1974. Epub 2018 Nov 13.

Inserm, Paris, France.

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http://doi.wiley.com/10.1002/ijc.31921
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http://dx.doi.org/10.1002/ijc.31921DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6587727PMC
April 2019

12q13.12q13.13 microdeletion encompassing ACVRL1 and SCN8A genes: Clinical report of a new contiguous gene syndrome.

Eur J Med Genet 2018 Oct 30. Epub 2018 Oct 30.

Hospices Civils de Lyon, Genetic Department and National HHT Reference Center, Femme-Mère-Enfants Hospital, Bron, F-69677, France.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183055
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http://dx.doi.org/10.1016/j.ejmg.2018.10.017DOI Listing
October 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

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.

Authors:
Elena Vigorito Karoline B Kuchenbaecker Jonathan Beesley Julian Adlard Bjarni A Agnarsson Irene L Andrulis Banu K Arun Laure Barjhoux Muriel Belotti Javier Benitez Andreas Berger Anders Bojesen Bernardo Bonanni Carole Brewer Trinidad Caldes Maria A Caligo Ian Campbell Salina B Chan Kathleen B M Claes David E Cohn Jackie Cook Mary B Daly Francesca Damiola Rosemarie Davidson Antoine de Pauw Capucine Delnatte Orland Diez Susan M Domchek Martine Dumont Katarzyna Durda Bernd Dworniczak Douglas F Easton Diana Eccles Christina Edwinsdotter Ardnor Ros Eeles Bent Ejlertsen Steve Ellis D Gareth Evans Lidia Feliubadalo Florentia Fostira William D Foulkes Eitan Friedman Debra Frost Pragna Gaddam Patricia A Ganz Judy Garber Vanesa Garcia-Barberan Marion Gauthier-Villars Andrea Gehrig Anne-Marie Gerdes Sophie Giraud Andrew K Godwin David E Goldgar Christopher R Hake Thomas V O Hansen Sue Healey Shirley Hodgson Frans B L Hogervorst Claude Houdayer Peter J Hulick Evgeny N Imyanitov Claudine Isaacs Louise Izatt Angel Izquierdo Lauren Jacobs Anna Jakubowska Ramunas Janavicius Katarzyna Jaworska-Bieniek Uffe Birk Jensen Esther M John Joseph Vijai Beth Y Karlan Karin Kast KConFab Investigators Sofia Khan Ava Kwong Yael Laitman Jenny Lester Fabienne Lesueur Annelie Liljegren Jan Lubinski Phuong L Mai Siranoush Manoukian Sylvie Mazoyer Alfons Meindl Arjen R Mensenkamp Marco Montagna Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Dieter Niederacher Edith Olah Olufunmilayo I Olopade Kai-Ren Ong Ana Osorio Sue Kyung Park Ylva Paulsson-Karlsson Inge Sokilde Pedersen Bernard Peissel Paolo Peterlongo Georg Pfeiler Catherine M Phelan Marion Piedmonte Bruce Poppe Miquel Angel Pujana Paolo Radice Gad Rennert Gustavo C Rodriguez Matti A Rookus Eric A Ross Rita Katharina Schmutzler Jacques Simard Christian F Singer Thomas P Slavin Penny Soucy Melissa Southey Doris Steinemann Dominique Stoppa-Lyonnet Grzegorz Sukiennicki Christian Sutter Csilla I Szabo Muy-Kheng Tea Manuel R Teixeira Soo-Hwang Teo Mary Beth Terry Mads Thomassen Maria Grazia Tibiletti Laima Tihomirova Silvia Tognazzo Elizabeth J van Rensburg Liliana Varesco Raymonda Varon-Mateeva Athanassios Vratimos Jeffrey N Weitzel Lesley McGuffog Judy Kirk Amanda Ewart Toland Ute Hamann Noralane Lindor Susan J Ramus Mark H Greene Fergus J Couch Kenneth Offit Paul D P Pharoah Georgia Chenevix-Trench Antonis C Antoniou

PLoS One 2016 27;11(7):e0158801. Epub 2016 Jul 27.

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

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0158801PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4963094PMC
July 2017

Hibernoma and multiple endocrine neoplasia type 1 syndrome: A non-fortuitous association? A case report and literature review.

Ann Endocrinol (Paris) 2017 Jul 4;78(3):194-197. Epub 2017 May 4.

Department of endocrinology and diabetes, Lyon-Sud hospital, hospices civils de Lyon, 165, chemin du Grand-Revoyet, 69310 Pierre-Bénite, France. Electronic address:

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http://dx.doi.org/10.1016/j.ando.2017.03.001DOI Listing
July 2017

Von Hippel-Lindau disease: when neurosurgery meets nephrology, ophthalmology and genetics.

J Neurosurg Sci 2017 Jul 26. Epub 2017 Jul 26.

Nephrology, Dialysis, Transplantation Unit, Department for Emergency and Organ Transplantation, AOU Policlinico, University "Aldo Moro", Bari, Italy.

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http://dx.doi.org/10.23736/S0390-5616.17.04153-4DOI Listing
July 2017

GENESIS: a French national resource to study the missing heritability of breast cancer.

BMC Cancer 2016 Jan 12;16:13. Epub 2016 Jan 12.

Inserm, U900, Paris, France.

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http://dx.doi.org/10.1186/s12885-015-2028-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4711059PMC
January 2016

A germline mutation in PBRM1 predisposes to renal cell carcinoma.

J Med Genet 2015 Jun 24;52(6):426-30. Epub 2015 Apr 24.

Ecole Pratique des Hautes Etudes, Paris, France Laboratoire de Génétique Oncologique EPHE, INSERM U753, Villejuif, France Faculté de Médecine Université Paris-Sud, Le Kremlin-Bicêtre, France.

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http://dx.doi.org/10.1136/jmedgenet-2014-102912DOI Listing
June 2015

Genetic variation in the functional ENG allele inherited from the non-affected parent associates with presence of pulmonary arteriovenous malformation in hereditary hemorrhagic telangiectasia 1 (HHT1) and may influence expression of PTPN14.

Front Genet 2015 12;6:67. Epub 2015 Mar 12.

Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco San Francisco, CA, USA ; Institute of Human Genetics, University of California, San Francisco San Francisco, CA, USA ; Department of Anatomy, University of California, San Francisco San Francisco, CA, USA.

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http://dx.doi.org/10.3389/fgene.2015.00067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4357294PMC
March 2015

Functional analysis of endoglin mutations from hereditary hemorrhagic telangiectasia type 1 patients reveals different mechanisms for endoglin loss of function.

Hum Mol Genet 2015 Feb 13;24(4):1142-54. Epub 2014 Oct 13.

Inserm, U1036, Grenoble F-38000, France, CEA, DSV, iRTSV, Laboratoire Biologie du Cancer et de L'Infection, Grenoble F-38000, France, University Grenoble-Alpes, Grenoble F-38000, France,

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http://hmg.oxfordjournals.org/content/early/2014/10/22/hmg.d
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddu531
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http://dx.doi.org/10.1093/hmg/ddu531DOI Listing
February 2015

VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotype.

Eur J Hum Genet 2014 Sep 4;22(9):1149-52. Epub 2013 Dec 4.

1] Laboratoire de biochimie 'hormonologie, métabolisme-nutrition, oncologie', Centre de Biologie Pathologie, CHRU de Lille, Lille Cedex, France [2] INSERM, U837, Team 5, Lille Cedex, France.

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http://dx.doi.org/10.1038/ejhg.2013.279DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4135403PMC
September 2014

p.Ala541Thr variant of MEN1 gene: a non deleterious polymorphism or a pathogenic mutation?

Ann Endocrinol (Paris) 2014 Jul 2;75(3):133-40. Epub 2014 Jul 2.

UMR 5201 génétique, signalisation et cancer, centre Léon-Bérard, 69008 Lyon, France; Laboratoire de génétique moléculaire, hôpital Édouard-Herriot, bâtiment B7, 69347 Lyon cedex 03, France. Electronic address:

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http://dx.doi.org/10.1016/j.ando.2014.05.003DOI Listing
July 2014

Genetic variants of Adam17 differentially regulate TGFβ signaling to modify vascular pathology in mice and humans.

Proc Natl Acad Sci U S A 2014 May 8;111(21):7723-8. Epub 2014 May 8.

Helen Diller Family Comprehensive Cancer Center (HDFCCC) and Department of Anatomy, University of California, San Francisco, CA 94158-9001;Department of Anatomy, andInstitute of Human Genetics, University of California, San Francisco, CA 94143

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http://dx.doi.org/10.1073/pnas.1318761111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4040598PMC
May 2014

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer.

Authors:
Stig E Bojesen Karen A Pooley Sharon E Johnatty Jonathan Beesley Kyriaki Michailidou Jonathan P Tyrer Stacey L Edwards Hilda A Pickett Howard C Shen Chanel E Smart Kristine M Hillman Phuong L Mai Kate Lawrenson Michael D Stutz Yi Lu Rod Karevan Nicholas Woods Rebecca L Johnston Juliet D French Xiaoqing Chen Maren Weischer Sune F Nielsen Melanie J Maranian Maya Ghoussaini Shahana Ahmed Caroline Baynes Manjeet K Bolla Qin Wang Joe Dennis Lesley McGuffog Daniel Barrowdale Andrew Lee Sue Healey Michael Lush Daniel C Tessier Daniel Vincent Françis Bacot Ignace Vergote Sandrina Lambrechts Evelyn Despierre Harvey A Risch Anna González-Neira Mary Anne Rossing Guillermo Pita Jennifer A Doherty Nuria Alvarez Melissa C Larson Brooke L Fridley Nils Schoof Jenny Chang-Claude Mine S Cicek Julian Peto Kimberly R Kalli Annegien Broeks Sebastian M Armasu Marjanka K Schmidt Linde M Braaf Boris Winterhoff Heli Nevanlinna Gottfried E Konecny Diether Lambrechts Lisa Rogmann Pascal Guénel Attila Teoman Roger L Milne Joaquin J Garcia Angela Cox Vijayalakshmi Shridhar Barbara Burwinkel Frederik Marme Rebecca Hein Elinor J Sawyer Christopher A Haiman Shan Wang-Gohrke Irene L Andrulis Kirsten B Moysich John L Hopper Kunle Odunsi Annika Lindblom Graham G Giles Hermann Brenner Jacques Simard Galina Lurie Peter A Fasching Michael E Carney Paolo Radice Lynne R Wilkens Anthony Swerdlow Marc T Goodman Hiltrud Brauch Montserrat Garcia-Closas Peter Hillemanns Robert Winqvist Matthias Dürst Peter Devilee Ingo Runnebaum Anna Jakubowska Jan Lubinski Arto Mannermaa Ralf Butzow Natalia V Bogdanova Thilo Dörk Liisa M Pelttari Wei Zheng Arto Leminen Hoda Anton-Culver Clareann H Bunker Vessela Kristensen Roberta B Ness Kenneth Muir Robert Edwards Alfons Meindl Florian Heitz Keitaro Matsuo Andreas du Bois Anna H Wu Philipp Harter Soo-Hwang Teo Ira Schwaab Xiao-Ou Shu William Blot Satoyo Hosono Daehee Kang Toru Nakanishi Mikael Hartman Yasushi Yatabe Ute Hamann Beth Y Karlan Suleeporn Sangrajrang Susanne Krüger Kjaer Valerie Gaborieau Allan Jensen Diana Eccles Estrid Høgdall Chen-Yang Shen Judith Brown Yin Ling Woo Mitul Shah Mat Adenan Noor Azmi Robert Luben Siti Zawiah Omar Kamila Czene Robert A Vierkant Børge G Nordestgaard Henrik Flyger Celine Vachon Janet E Olson Xianshu Wang Douglas A Levine Anja Rudolph Rachel Palmieri Weber Dieter Flesch-Janys Edwin Iversen Stefan Nickels Joellen M Schildkraut Isabel Dos Santos Silva Daniel W Cramer Lorna Gibson Kathryn L Terry Olivia Fletcher Allison F Vitonis C Ellen van der Schoot Elizabeth M Poole Frans B L Hogervorst Shelley S Tworoger Jianjun Liu Elisa V Bandera Jingmei Li Sara H Olson Keith Humphreys Irene Orlow Carl Blomqvist Lorna Rodriguez-Rodriguez Kristiina Aittomäki Helga B Salvesen Taru A Muranen Elisabeth Wik Barbara Brouwers Camilla Krakstad Els Wauters Mari K Halle Hans Wildiers Lambertus A Kiemeney Claire Mulot Katja K Aben Pierre Laurent-Puig Anne Mvan Altena Thérèse Truong Leon F A G Massuger Javier Benitez Tanja Pejovic Jose Ignacio Arias Perez Maureen Hoatlin M Pilar Zamora Linda S Cook Sabapathy P Balasubramanian Linda E Kelemen Andreas Schneeweiss Nhu D Le Christof Sohn Angela Brooks-Wilson Ian Tomlinson Michael J Kerin Nicola Miller Cezary Cybulski Brian E Henderson Janusz Menkiszak Fredrick Schumacher Nicolas Wentzensen Loic Le Marchand Hannah P Yang Anna Marie Mulligan Gord Glendon Svend Aage Engelholm Julia A Knight Claus K Høgdall Carmel Apicella Martin Gore Helen Tsimiklis Honglin Song Melissa C Southey Agnes Jager Ans M Wvan den Ouweland Robert Brown John W M Martens James M Flanagan Mieke Kriege James Paul Sara Margolin Nadeem Siddiqui Gianluca Severi Alice S Whittemore Laura Baglietto Valerie McGuire Christa Stegmaier Weiva Sieh Heiko Müller Volker Arndt France Labrèche Yu-Tang Gao Mark S Goldberg Gong Yang Martine Dumont John R McLaughlin Arndt Hartmann Arif B Ekici Matthias W Beckmann Catherine M Phelan Michael P Lux Jenny Permuth-Wey Bernard Peissel Thomas A Sellers Filomena Ficarazzi Monica Barile Argyrios Ziogas Alan Ashworth Aleksandra Gentry-Maharaj Michael Jones Susan J Ramus Nick Orr Usha Menon Celeste L Pearce Thomas Brüning Malcolm C Pike Yon-Dschun Ko Jolanta Lissowska Jonine Figueroa Jolanta Kupryjanczyk Stephen J Chanock Agnieszka Dansonka-Mieszkowska Arja Jukkola-Vuorinen Iwona K Rzepecka Katri Pylkäs Mariusz Bidzinski Saila Kauppila Antoinette Hollestelle Caroline Seynaeve Rob A E M Tollenaar Katarzyna Durda Katarzyna Jaworska Jaana M Hartikainen Veli-Matti Kosma Vesa Kataja Natalia N Antonenkova Jirong Long Martha Shrubsole Sandra Deming-Halverson Artitaya Lophatananon Pornthep Siriwanarangsan Sarah Stewart-Brown Nina Ditsch Peter Lichtner Rita K Schmutzler Hidemi Ito Hiroji Iwata Kazuo Tajima Chiu-Chen Tseng Daniel O Stram David van den Berg Cheng Har Yip M Kamran Ikram Yew-Ching Teh Hui Cai Wei Lu Lisa B Signorello Qiuyin Cai Dong-Young Noh Keun-Young Yoo Hui Miao Philip Tsau-Choong Iau Yik Ying Teo James McKay Charles Shapiro Foluso Ademuyiwa George Fountzilas Chia-Ni Hsiung Jyh-Cherng Yu Ming-Feng Hou Catherine S Healey Craig Luccarini Susan Peock Dominique Stoppa-Lyonnet Paolo Peterlongo Timothy R Rebbeck Marion Piedmonte Christian F Singer Eitan Friedman Mads Thomassen Kenneth Offit Thomas V O Hansen Susan L Neuhausen Csilla I Szabo Ignacio Blanco Judy Garber Steven A Narod Jeffrey N Weitzel Marco Montagna Edith Olah Andrew K Godwin Drakoulis Yannoukakos David E Goldgar Trinidad Caldes Evgeny N Imyanitov Laima Tihomirova Banu K Arun Ian Campbell Arjen R Mensenkamp Christi J van Asperen Kees E P van Roozendaal Hanne Meijers-Heijboer J Margriet Collée Jan C Oosterwijk Maartje J Hooning Matti A Rookus Rob B van der Luijt Theo A Mvan Os D Gareth Evans Debra Frost Elena Fineberg Julian Barwell Lisa Walker M John Kennedy Radka Platte Rosemarie Davidson Steve D Ellis Trevor Cole Brigitte Bressac-de Paillerets Bruno Buecher Francesca Damiola Laurence Faivre Marc Frenay Olga M Sinilnikova Olivier Caron Sophie Giraud Sylvie Mazoyer Valérie Bonadona Virginie Caux-Moncoutier Aleksandra Toloczko-Grabarek Jacek Gronwald Tomasz Byrski Amanda B Spurdle Bernardo Bonanni Daniela Zaffaroni Giuseppe Giannini Loris Bernard Riccardo Dolcetti Siranoush Manoukian Norbert Arnold Christoph Engel Helmut Deissler Kerstin Rhiem Dieter Niederacher Hansjoerg Plendl Christian Sutter Barbara Wappenschmidt Ake Borg Beatrice Melin Johanna Rantala Maria Soller Katherine L Nathanson Susan M Domchek Gustavo C Rodriguez Ritu Salani Daphne Gschwantler Kaulich Muy-Kheng Tea Shani Shimon Paluch Yael Laitman Anne-Bine Skytte Torben A Kruse Uffe Birk Jensen Mark Robson Anne-Marie Gerdes Bent Ejlertsen Lenka Foretova Sharon A Savage Jenny Lester Penny Soucy Karoline B Kuchenbaecker Curtis Olswold Julie M Cunningham Susan Slager Vernon S Pankratz Ed Dicks Sunil R Lakhani Fergus J Couch Per Hall Alvaro N A Monteiro Simon A Gayther Paul D P Pharoah Roger R Reddel Ellen L Goode Mark H Greene Douglas F Easton Andrew Berchuck Antonis C Antoniou Georgia Chenevix-Trench Alison M Dunning

Nat Genet 2013 Apr;45(4):371-84, 384e1-2

Copenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1038/ng.2566DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3670748PMC
April 2013

[Prophylactic thyroidectomy in medullary thyroid cancer].

Bull Acad Natl Med 2012 Oct;196(7):1247-58; discussion 1258-60

Chirurgie digestive et endocrinienne, Centre hospitalier Lyon Sud, 165, chemin du grand Revoyet-69495 Pierre-Bénite cedex.

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October 2012

A SDHB malignant paraganglioma with dramatic response to temozolomide-capecitabine.

Eur J Endocrinol 2012 Jun 19;166(6):1107-11. Epub 2012 Mar 19.

Hospices Civils de Lyon, Hôpital Edouard Herriot, Fédération des Spécialités Digestives, Place d'Arsonval, Lyon cedex 03, France.

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http://www.eje-online.org/content/166/6/1107.full.pdf
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http://www.eje-online.org/cgi/doi/10.1530/EJE-11-1098
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http://dx.doi.org/10.1530/EJE-11-1098DOI Listing
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
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http://dx.doi.org/10.1093/hmg/ddr388DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3733139PMC
December 2011

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers.

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

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

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

Vitreoretinal surgery for severe retinal capillary hemangiomas in von hippel-lindau disease.

Ophthalmology 2011 Jan;118(1):142-9

Service d'Ophthalmologie, Hôpital Lariboisière, AP-HP, Université Paris-7 Diderot, Paris, France.

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http://dx.doi.org/10.1016/j.ophtha.2010.04.031DOI Listing
January 2011

Conservative management of endolymphatic sac tumors in von Hippel-Lindau disease: case report.

Acta Neurochir (Wien) 2011 Jan 20;153(1):42-7; discussion 47. Epub 2010 Nov 20.

Service de Neurochirurgie, Hôpital Beaujon, AP-HP, Clichy, France.

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http://link.springer.com/content/pdf/10.1007/s00701-010-0873
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http://link.springer.com/10.1007/s00701-010-0873-5
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http://dx.doi.org/10.1007/s00701-010-0873-5DOI Listing
January 2011

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

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

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

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

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http://dx.doi.org/10.1038/ng.669DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3130795PMC
October 2010

Endolymphatic sac tumors in von Hippel-Lindau disease: report of three cases.

Otol Neurotol 2010 Jun;31(4):660-4

Service d'Otorhinolaryngologie, Hôpital Lariboisière (Assistance Publique-Hôpitaux de Paris), Paris, France.

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http://dx.doi.org/10.1097/MAO.0b013e3181d8d863DOI Listing
June 2010

Supratentorial hemangioblastoma in the neonatal period.

Pediatr Neurosurg 2009 25;45(2):155-6. Epub 2009 Mar 25.

Department of Pediatric Neurosurgery, Necker Enfants Malades Hospital, Paris, France.

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http://dx.doi.org/10.1159/000209656DOI Listing
February 2010

A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.

Hum Mutat 2010 Jan;31(1):E1043-51

Department of Medical & Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham B15 2TT, UK.

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http://dx.doi.org/10.1002/humu.21130DOI Listing
January 2010

Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCN.

Clin Cancer Res 2008 Sep;14(18):5925-30

Cancer Research UK Renal Molecular Oncology Group and Department of Medical and Molecular Genetics, University of Birmingham and West Midlands Regional Genetics Service, Birmingham Women's Hospital, United Kingdom.

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http://dx.doi.org/10.1158/1078-0432.CCR-08-0608DOI Listing
September 2008

Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients.

Eur J Hum Genet 2008 Jun 20;16(6):742-9. Epub 2008 Feb 20.

Service de Génétique Moléculaire et Clinique, Hôpital Edouard Herriot, Université de Lyon, Université Lyon 1, 5 Place d'Arsonval, Lyon, France.

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http://dx.doi.org/10.1038/ejhg.2008.3DOI Listing
June 2008

[Genetics and angiogenesis: the example of von Hippel-Lindau disease].

Bull Cancer 2007 Jul;94 Spec No:S170-9

Laboratoire de génétique oncologique Ephe, CNRS FRE 2939, Faculté de Médecine Paris-Sud, 94276 Le Kremlin-Bicêtre et Institut de cancérologie Gustave Roussy, 94800 Villejuif.

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July 2007

Hemorrhagic hereditary telangiectasia (Rendu-Osler disease) and infectious diseases: an underestimated association.

Clin Infect Dis 2007 Mar 1;44(6):841-5. Epub 2007 Feb 1.

Service de Génétique et Centre de Référence sur la Maladie de Rendu-Osler, Hôpital de l'Hôtel Dieu, Lyon, France.

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http://dx.doi.org/10.1086/511645DOI Listing
March 2007

Coexpression of erythropoietin and erythropoietin receptor in von Hippel-Lindau disease-associated renal cysts and renal cell carcinoma.

Clin Cancer Res 2005 Feb;11(3):1059-64

Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Cancer Institute/NIH, 10 Center Drive, Bethesda, MD 20892, USA.

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February 2005

The growing family of hereditary renal cell carcinoma.

Nephrol Dial Transplant 2004 Dec 26;19(12):2954-8. Epub 2004 Oct 26.

Génétique Oncologique EPHE, Faculté de Médecine Paris-Sud, 94276 Le Kremlin-Bicêtre, France.

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http://dx.doi.org/10.1093/ndt/gfh535DOI Listing
December 2004

Inactivation of BHD in sporadic renal tumors.

Cancer Res 2003 Aug;63(15):4583-7

Laboratory of Cancer Genetics, Van Andel Research Institute, 333 Bostwick Avenue N.E., Grand Rapids, MI 49503, USA.

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August 2003

Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study.

Invest Ophthalmol Vis Sci 2002 Sep;43(9):3067-74

Fédération de Génétique, Ophthalmology Department, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

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September 2002

Radiology quiz case. Papillary neoplasm of the endolymphatic sac in a patient with von Hippel-Lindau disease.

Arch Otolaryngol Head Neck Surg 2002 Jul;128(7):855, 856

Hôpital Lariboisière, Paris, France.

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July 2002

Cancer patients who experienced diagnostic genetic testing for cancer susceptibility: reactions and behavior after the disclosure of a positive test result.

Cancer Epidemiol Biomarkers Prev 2002 Jan;11(1):97-104

Unit of Prevention and Genetic Epidemiology, Comprehensive Cancer Center Léon Bérard, 28 rue Laënnec, 69008 Lyon, France.

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January 2002