L
Laurence Faivre
Researcher at University of Burgundy
Publications - 520
Citations - 24665
Laurence Faivre is an academic researcher from University of Burgundy. The author has contributed to research in topics: Medicine & Exome sequencing. The author has an hindex of 68, co-authored 456 publications receiving 19989 citations. Previous affiliations of Laurence Faivre include Necker-Enfants Malades Hospital & Guy's Hospital.
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Journal ArticleDOI
Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers
Karoline Kuchenbaecker,Karoline Kuchenbaecker,John L. Hopper,Daniel R. Barnes,Kelly-Anne Phillips,T.M. Mooij,Marie-José Roos-Blom,Marie-José Roos-Blom,Sarah Jervis,Sarah Jervis,Flora E. van Leeuwen,Roger L. Milne,Roger L. Milne,Nadine Andrieu,David E. Goldgar,Mary Beth Terry,Matti A. Rookus,Douglas F. Easton,Antonis C. Antoniou,Lesley McGuffog,D. Gareth Evans,Daniel Barrowdale,Debra Frost,Julian Adlard,Kai-ren Ong,Louise Izatt,Marc Tischkowitz,Ros Eeles,Rosemarie Davidson,Shirley Hodgson,Steve Ellis,Catherine Noguès,Christine Lasset,Dominique Stoppa-Lyonnet,Dominique Stoppa-Lyonnet,Jean-Pierre Fricker,Laurence Faivre,Pascaline Berthet,Maartje J. Hooning,Lizet E. van der Kolk,Carolien M. Kets,Muriel A. Adank,Esther M. John,Wendy K. Chung,Irene L. Andrulis,Irene L. Andrulis,Melissa C. Southey,Mary B. Daly,Saundra S. Buys,Ana Osorio,Christoph Engel,Karin Kast,Rita K. Schmutzler,Trinidad Caldés,Anna Jakubowska,Jacques Simard,Michael Friedlander,Sue-Anne McLachlan,Sue-Anne McLachlan,Eva Machackova,Lenka Foretova,Yen Y. Tan,Yen Y. Tan,Christian F. Singer,Edith Olah,Anne-Marie Gerdes,Brita Arver,Håkan Olsson +67 more
TL;DR: To estimate age-specific risks of breast, ovarian, and contralateral breast cancer for mutation carriers and to evaluate risk modification by family cancer history and mutation location, a large cohort study recruited in 1997-2011 provides estimates of cancer risk based on BRCA1 and BRCa2 mutation carrier status.
Journal ArticleDOI
The revised Ghent nosology for the Marfan syndrome
Bart Loeys,Harry C. Dietz,Alan C. Braverman,Bert Callewaert,Julie De Backer,Richard B. Devereux,Yvonne Hilhorst-Hofstee,Guillaume Jondeau,Laurence Faivre,Dianna M. Milewicz,Reed E. Pyeritz,Paul D. Sponseller,Paul Wordsworth,Anne De Paepe +13 more
TL;DR: A revised Ghent nosology is established, which puts more weight on the cardiovascular manifestations and in which aortic root aneurysm and ectopia lentis are the cardinal clinical features and may delay a definitive diagnosis of MFS but will decrease the risk of premature or misdiagnosis.
Journal ArticleDOI
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer
Stig E. Bojesen,Stig E. Bojesen,Karen A. Pooley,Sharon E. Johnatty,Jonathan Beesley,Kyriaki Michailidou,Jonathan Tyrer,Stacey L. Edwards,Hilda A. Pickett,Hilda A. Pickett,Howard C. Shen,Chanel E. Smart,Kristine M. Hillman,Phuong L. Mai,Kate Lawrenson,Michael D. Stutz,Michael D. Stutz,Yi Lu,Rod Karevan,Nicholas T. Woods,Rebecca L. Johnston,Juliet D. French,Xiaoqing Chen,Maren Weischer,Sune F. Nielsen,Melanie 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,Mary Anne Rossing,Guillermo Pita,Jennifer A. Doherty,Nuria Álvarez,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,L. Rogmann,Pascal Guénel,Attila Teoman,Roger L. Milne,Joaquin J. Garcia,Angela Cox,Vijayalakshmi Shridhar,Barbara Burwinkel,Frederik Marmé,Rebecca Hein,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,Graham G. Giles,Graham G. Giles,Hermann Brenner,Jacques Simard,Galina Lurie,Peter A. Fasching,Peter A. Fasching,Michael E. Carney,Paolo Radice,Lynne R. Wilkens,Anthony J. Swerdlow,Marc T. Goodman,Hiltrud Brauch,Hiltrud Brauch,Montserrat Garcia-Closas,Peter Hillemanns,Robert Winqvist,Matthias Dürst,Peter Devilee,Ingo B. Runnebaum,Anna Jakubowska,Jan Lubinski,Arto Mannermaa,Ralf Bützow,Natalia Bogdanova,Thilo Dörk,Liisa M. Pelttari,Wei Zheng,Arto Leminen,Hoda Anton-Culver,Clareann H. Bunker,Vessela N. Kristensen,Roberta B. Ness,Kenneth Muir,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,Mikael Hartman,Yasushi Yatabe,Ute Hamann,Beth Y. Karlan,Suleeporn Sangrajrang,Susanne K. Kjaer,Valerie Gaborieau,Allan Jensen,Diana Eccles,Estrid Høgdall,Chen-Yang Shen,Chen-Yang Shen,Judith E. 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 M. Vachon,Janet E. Olson,Xianshu Wang,Douglas A. Levine,Anja Rudolph,Rachel Palmieri Weber,Dieter Flesch-Janys,Edwin S. 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.H. Aben,Pierre Laurent-Puig,Anne M. van Altena,Thérèse Truong,Leon F.A.G. Massuger,Javier Benitez,Tanja Pejovic,Jose Ignacio Arias Perez,Maureen E. Hoatlin,M. Pilar Zamora,Linda S. Cook,Sabapathy P. Balasubramanian,Linda E. Kelemen,Andreas Schneeweiss,Nhu D. Le,Christof Sohn,Angela Brooks-Wilson,Angela Brooks-Wilson,Ian Tomlinson,Michael J. Kerin,Nicola Miller,Cezary Cybulski,Brian E. Henderson,Janusz Menkiszak,Fredrick R. Schumacher,Nicolas Wentzensen,Loic Le Marchand,Hannah P. Yang,Anna Marie Mulligan,Gord Glendon,Svend Aage Engelholm,Julia A. Knight,Claus Høgdall,Carmel Apicella,Martin Gore,Helen Tsimiklis,Honglin Song,Melissa C. Southey,Agnes Jager,Ans M Wvan Den Ouweland,Robert S. Brown,John W.M. Martens,James M. Flanagan,Mieke Kriege,James Paul,Sara Margolin,Nadeem Siddiqui,Gianluca Severi,Gianluca Severi,Alice S. Whittemore,Laura Baglietto,Laura Baglietto,Valerie McGuire,Christa Stegmaier,Weiva Sieh,Heiko Müller,Volker Arndt,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 Leigh Pearce,Thomas Brüning,Malcolm C. Pike,Malcolm C. Pike,Yon Ko,Jolanta Lissowska,Jonine D. Figueroa,Jolanta Kupryjanczyk,Stephen J. Chanock,Agnieszka Dansonka-Mieszkowska,Arja Jukkola-Vuorinen,Iwona K. Rzepecka,Katri Pylkäs,Mariusz Bidziński,Saila Kauppila,Antoinette Hollestelle,Caroline Seynaeve,Rob A. E. M. Tollenaar,Katarzyna Durda,Katarzyna Jaworska,Katarzyna Jaworska,Jaana M. Hartikainen,Veli-Matti Kosma,Vesa Kataja,Natalia Antonenkova,Jirong Long,Martha J. Shrubsole,Sandra Deming-Halverson,Artitaya Lophatananon,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 Iau,Yik Ying Teo,James McKay,Charles L. Shapiro,Foluso O. 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 Hansen,Susan L. Neuhausen,Csilla Szabo,Ignacio Blanco,Judy Garber,Steven A. Narod,Jeffrey N. Weitzel,Marco Montagna,Edith Olah,Andrew K. Godwin,Drakoulis Yannoukakos,David E. Goldgar,Trinidad Caldés,Evgeny N. Imyanitov,Laima Tihomirova,Banu Arun,Ian G. 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 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 Tołoczko-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,Åke 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 E. Robson,Anne-Marie Gerdes,Bent Ejlertsen,Lenka Foretova,Sharon A. Savage,Jenny Lester,Penny Soucy,Karoline Kuchenbaecker,Curtis Olswold,Julie M. Cunningham,Susan L. Slager,Vernon S. Pankratz,Ed Dicks,Sunil R. Lakhani,Sunil R. Lakhani,Fergus J. Couch,Per Hall,Alvaro N.A. Monteiro,Simon A. Gayther,Paul D.P. Pharoah,Roger R. Reddel,Roger R. Reddel,Ellen L. Goode,Mark H. Greene,Douglas F. Easton,Andrew Berchuck,Antonis C. Antoniou,Georgia Chenevix-Trench,Alison M. Dunning +455 more
TL;DR: Using the Illumina custom genotyping array iCOGs, SNPs at the TERT locus in breast, ovarian and BRCA1 mutation carrier cancer cases and controls and leukocyte telomere measurements are analyzed to find associations cluster into three independent peaks.
Journal ArticleDOI
Effect of mutation type and location on clinical outcome in 1,013 probands with marfan syndrome or related phenotypes and FBN1 mutations : An international study
Laurence Faivre,Gwenaëlle Collod-Béroud,Gwenaëlle Collod-Béroud,Bart Loeys,Anne H. Child,Christine Binquet,Elodie Gautier,Bert Callewaert,Eloisa Arbustini,Kenneth H. Mayer,Mine Arslan-Kirchner,A Kiotsekoglou,P Comeglio,Nicola Marziliano,Hal Dietz,Dorothy Halliday,Christophe Béroud,Christophe Béroud,Claire Bonithon-Kopp,Mireille Claustres,Christine Muti,H. Plauchu,Peter N. Robinson,Lesley C. Adès,Andrew Biggin,B. Benetts,Maggie Brett,Katherine Holman,J. De Backer,Paul Coucke,Uta Francke,A. De Paepe,Guillaume Jondeau,Catherine Boileau +33 more
TL;DR: In this paper, the authors investigated the correlation between the fibrillin-1 (FBN1) genotype and the nature and severity of the clinical phenotype, including skeletal, cardiovascular, ophthalmologic, skin, pulmonary, and dural.
Journal ArticleDOI
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
Gillian I. Rice,Yoandris del Toro Duany,Yoandris del Toro Duany,Emma M. Jenkinson,Gabriella M A Forte,Beverley Anderson,Giada Ariaudo,Brigitte Bader-Meunier,Eileen Baildam,Roberta Battini,Michael W. Beresford,Manuela Casarano,Mondher Chouchane,Rolando Cimaz,Abigail Collins,Nuno Cordeiro,Russell C. Dale,Joyce Davidson,Liesbeth De Waele,Isabelle Desguerre,Laurence Faivre,Elisa Fazzi,Bertrand Isidor,Lieven Lagae,Andrew Latchman,Pierre Lebon,Chumei Li,John H. Livingston,Charles Marques Lourenço,Maria Margherita Mancardi,Alice Masurel-Paulet,Iain B. McInnes,Manoj P. Menezes,Cyril Mignot,James O'Sullivan,Simona Orcesi,Paolo Picco,Enrica Riva,Robert Robinson,Diana Rodriguez,Diana Rodriguez,Elisabetta Salvatici,Christiaan Scott,Marta Szybowska,John Tolmie,Adeline Vanderver,Catherine Vanhulle,José Pedro Vieira,Kate Webb,Robyn Whitney,Simon G. Williams,Lynne A. Wolfe,Sameer M. Zuberi,Sameer M. Zuberi,Sun Hur,Sun Hur,Yanick J. Crow +56 more
TL;DR: It is demonstrated that aberrant sensing of nucleic acids can cause immune upregulation and heterozygous mutations in the cytosolic double-stranded RNA receptor gene IFIH1 (also called MDA5) cause a spectrum of neuroimmunological features consistently associated with an enhanced interferon state.