V
Virginie Caux-Moncoutier
Researcher at Curie Institute
Publications - 32
Citations - 3133
Virginie Caux-Moncoutier is an academic researcher from Curie Institute. The author has contributed to research in topics: Breast cancer & Gene. The author has an hindex of 23, co-authored 31 publications receiving 2656 citations. Previous affiliations of Virginie Caux-Moncoutier include PSL Research University & Paris Descartes University.
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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
Ploidy and Large-Scale Genomic Instability Consistently Identify Basal-like Breast Carcinomas with BRCA1/2 Inactivation
Tatiana Popova,Elodie Manié,Guillaume Rieunier,Virginie Caux-Moncoutier,Carole Tirapo,Thierry Dubois,Olivier Delattre,Brigitte Sigal-Zafrani,Marc A. Bollet,Michel Longy,Claude Houdayer,Xavier Sastre-Garau,Anne Vincent-Salomon,Dominique Stoppa-Lyonnet,Marc-Henri Stern +14 more
TL;DR: The genomic signature defined predicted BRCA1/2 inactivation in BLCs with 100% sensitivity and 90% specificity (97% accuracy) may ease the challenge of selecting patients for genetic testing or recruitment to clinical trials of novel emerging therapies that target DNA repair deficiencies in cancer.
Journal ArticleDOI
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.
Roger L. Milne,Roger L. Milne,Karoline Kuchenbaecker,Karoline Kuchenbaecker,Kyriaki Michailidou,Kyriaki Michailidou,Jonathan Beesley,Siddhartha Kar,Sara Lindström,Sara Lindström,Shirley Hui,Audrey Lemaçon,Penny Soucy,Joe Dennis,Xia Jiang,Asha Rostamianfar,Hilary K. Finucane,Hilary K. Finucane,Manjeet K. Bolla,Lesley McGuffog,Qin Wang,Cora M. Aalfs,Marcia Adams,Julian Adlard,Simona Agata,Shahana Ahmed,Habibul Ahsan,Kristiina Aittomäki,Fares Al-Ejeh,Jamie Allen,Christine B. Ambrosone,Christopher I. Amos,Irene L. Andrulis,Irene L. Andrulis,Hoda Anton-Culver,Natalia Antonenkova,Volker Arndt,Norbert Arnold,Kristan J. Aronson,Bernd Auber,Paul L. Auer,Paul L. Auer,Margreet G. E. M. Ausems,Jacopo Azzollini,Francois Bacot,Judith Balmaña,Monica Barile,Laure Barjhoux,Rosa B. Barkardottir,Myrto Barrdahl,Daniel R. Barnes,Daniel Barrowdale,Caroline Baynes,Matthias W. Beckmann,Javier Benitez,Marina Bermisheva,Leslie Bernstein,Yves-Jean Bignon,Kathleen R. Blazer,Marinus J. Blok,Carl Blomqvist,William J. Blot,Kristie Bobolis,Bram Boeckx,Natalia Bogdanova,Anders Bojesen,Stig E. Bojesen,Stig E. Bojesen,Bernardo Bonanni,Anne Lise Børresen-Dale,Aniko Bozsik,Angela R. Bradbury,Judith S. Brand,Hiltrud Brauch,Hiltrud Brauch,Hiltrud Brauch,Hermann Brenner,Brigitte Bressac-de Paillerets,Carole Brewer,Louise A. Brinton,Per Broberg,Angela Brooks-Wilson,Angela Brooks-Wilson,Joan Brunet,Thomas Brüning,Barbara Burwinkel,Barbara Burwinkel,Saundra S. Buys,Jinyoung Byun,Qiuyin Cai,Trinidad Caldés,Maria A. Caligo,Ian G. Campbell,Ian G. Campbell,Federico Canzian,Olivier Caron,Angel Carracedo,Brian D. Carter,J. Esteban Castelao,Laurent Castera,Virginie Caux-Moncoutier,Salina B. Chan,Jenny Chang-Claude,Jenny Chang-Claude,Stephen J. Chanock,Xiaoqing Chen,Tongguang Cheng,Jocelyne Chiquette,Hans Christiansen,Kathleen Claes,Christine L. Clarke,Thomas Conner,Don M. Conroy,Jackie Cook,Emilie Cordina-Duverger,Sten Cornelissen,Isabelle Coupier,Angela Cox,David G. Cox,David G. Cox,Simon S. Cross,Katarina Cuk,Julie M. Cunningham,Kamila Czene,Mary B. Daly,Francesca Damiola,Hatef Darabi,Rosemarie Davidson,Kim De Leeneer,Peter Devilee,Ed Dicks,Orland Diez,Yuan Chun Ding,Nina Ditsch,Kimberly F. Doheny,Susan M. Domchek,Cecilia M. Dorfling,Thilo Dörk,Isabel dos-Santos-Silva,Stéphane Dubois,Pierre Antoine Dugué,Pierre Antoine Dugué,Martine Dumont,Alison M. Dunning,Lorraine Durcan,Miriam Dwek,Bernd Dworniczak,Diana Eccles,Ros Eeles,Hans Ehrencrona,Ursula Eilber,Bent Ejlertsen,Arif B. Ekici,A. Heather Eliassen,A. Heather Eliassen,Christoph Engel,Mikael Eriksson,Laura Fachal,Laurence Faivre,Peter A. Fasching,Peter A. Fasching,Ulrike Faust,Jonine Figueroa,Dieter Flesch-Janys,Olivia Fletcher,Henrik Flyger,William D. Foulkes,Eitan Friedman,Eitan Friedman,Lin Fritschi,Debra Frost,Marike Gabrielson,Pragna Gaddam,Marilie D. Gammon,Patricia A. Ganz,Susan M. Gapstur,Judy Garber,Vanesa García-Barberán,José A. García-Sáenz,Mia M. Gaudet,Marion Gauthier-Villars,Andrea Gehrig,Vassilios Georgoulias,Anne-Marie Gerdes,Graham G. Giles,Graham G. Giles,Gord Glendon,Andrew K. Godwin,Mark S. Goldberg,David E. Goldgar,Anna González-Neira,Paul J. Goodfellow,Mark H. Greene,Grethe I. Grenaker Alnæs,Mervi Grip,Jacek Gronwald,Anne Grundy,Daphne Gschwantler-Kaulich,Pascal Guénel,Qi Guo,Lothar Haeberle,Eric Hahnen,Christopher A. Haiman,Niclas Håkansson,Emily Hallberg,Ute Hamann,N Hamel,Susan E. Hankinson,Thomas Hansen,Patricia Harrington,Steven N. Hart,Jaana M. Hartikainen,Catherine S. Healey,Alexander Hein,Sonja Helbig,Alex Henderson,Jane Heyworth,Belynda Hicks,Peter Hillemanns,Shirley Hodgson,Frans B. L. Hogervorst,Antoinette Hollestelle,Maartje J. Hooning,Bob Hoover,John L. Hopper,Chunling Hu,Guanmengqian Huang,Peter J. Hulick,Peter J. Hulick,Keith Humphreys,David J. Hunter,Evgeny N. Imyanitov,Claudine Isaacs,Motoki Iwasaki,Louise Izatt,Anna Jakubowska,Paul A. James,Paul A. James,Ramunas Janavicius,Wolfgang Janni,Uffe Birk Jensen,Esther M. John,Esther M. John,Nichola Johnson,Kristine Jones,Michael Jones,Arja Jukkola-Vuorinen,Rudolf Kaaks,Maria Kabisch,Katarzyna Kaczmarek,Daehee Kang,Daehee Kang,Karin Kast,Renske Keeman,Michael J. Kerin,Carolien M. Kets,Machteld Keupers,Sofia Khan,Elza Khusnutdinova,Elza Khusnutdinova,Johanna I. Kiiski,Sung Won Kim,Julia A. Knight,Julia A. Knight,Irene Konstantopoulou,Veli-Matti Kosma,Vessela N. Kristensen,Vessela N. Kristensen,Torben A Kruse,Ava Kwong,Anne-Vibeke Lænkholm,Yael Laitman,Fiona Lalloo,Diether Lambrechts,Keren Landsman,Christine Lasset,Conxi Lázaro,Loic Le Marchand,Julie Lecarpentier,Andy C. H. Lee,Eunjung Lee,Jong Won Lee,Min Hyuk Lee,Flavio Lejbkowicz,Fabienne Lesueur,Jingmei Li,Jenna Lilyquist,Anne Lincoln,Annika Lindblom,Jolanta Lissowska,Wing-Yee Lo,Wing-Yee Lo,Sibylle Loibl,Jirong Long,Jennifer T. Loud,Jan Lubinski,Craig Luccarini,Michael Lush,Robert J. MacInnis,Robert J. MacInnis,Tom Maishman,Enes Makalic,Ivana Maleva Kostovska,Kathleen E. Malone,Siranoush Manoukian,JoAnn E. Manson,Sara Margolin,John W.M. Martens,Maria Elena Martinez,Keitaro Matsuo,Dimitrios Mavroudis,Sylvie Mazoyer,Catriona McLean,Hanne Meijers-Heijboer,Primitiva Menéndez,J.-P. Meyer,Hui Miao,Austin Miller,Nicola Miller,Gillian Mitchell,Gillian Mitchell,Marco Montagna,Kenneth Muir,Kenneth Muir,Anna Marie Mulligan,Anna Marie Mulligan,Claire Mulot,Sue Nadesan,Katherine L. Nathanson,Susan L. Neuhausen,Heli Nevanlinna,Ines Nevelsteen,Dieter Niederacher,Sune F. Nielsen,Børge G. Nordestgaard,Børge G. Nordestgaard,Aaron D. Norman,Robert L. Nussbaum,Edith Olah,Olufunmilayo I. Olopade,Janet E. Olson,Curtis Olswold,Kai-ren Ong,Jan C. Oosterwijk,Nick Orr,Ana Osorio,V. Shane Pankratz,Laura Papi,Tjoung-Won Park-Simon,Ylva Paulsson-Karlsson,Rachel Lloyd,Inge Søkilde Pedersen,Bernard Peissel,Ana Peixoto,Jose Ignacio Arias Perez,Paolo Peterlongo,Julian Peto,Georg Pfeiler,Catherine M. Phelan,Mila Pinchev,Dijana Plaseska-Karanfilska,Bruce Poppe,Mary Porteous,Ross L. Prentice,Nadege Presneau,Darya Prokofieva,Elizabeth W. Pugh,Miquel Angel Pujana,Katri Pylkäs,Brigitte Rack,Brigitte Rack,Paolo Radice,Nazneen Rahman,Johanna Rantala,Christine Rappaport-Fuerhauser,Gad Rennert,Hedy S. Rennert,Valerie Rhenius,Kerstin Rhiem,Andrea L. Richardson,Gustavo C. Rodriguez,Atocha Romero,Jane Romm,Matti A. Rookus,Anja Rudolph,Thomas Ruediger,Emmanouil Saloustros,Joyce Sanders,Dale P. Sandler,Suleeporn Sangrajrang,Elinor J. Sawyer,Daniel F. Schmidt,Minouk J. Schoemaker,Fredrick R. Schumacher,Peter Schürmann,Lukas Schwentner,Christopher G. Scott,Rodney J. Scott,Rodney J. Scott,Sheila Seal,Leigha Senter,Caroline Seynaeve,Mitul Shah,Priyanka Sharma,Chen-Yang Shen,Chen-Yang Shen,Xin Sheng,Hermela Shimelis,Martha J. Shrubsole,Xiao-Ou Shu,Lucy Side,Christian F. Singer,Christof Sohn,Melissa C. Southey,John J. Spinelli,John J. Spinelli,Amanda B. Spurdle,Christa Stegmaier,Dominique Stoppa-Lyonnet,Grzegorz Sukiennicki,Harald Surowy,Harald Surowy,Christian Sutter,Anthony J. Swerdlow,Csilla Szabo,Rulla M. Tamimi,Rulla M. Tamimi,Yen Y. Tan,Jack A. Taylor,Maria-Isabel Tejada,Maria Tengström,Soo Hwang Teo,Mary Beth Terry,Daniel C. Tessier,Alex Teulé,Kathrin Thöne,Darcy L. Thull,Maria Grazia Tibiletti,Laima Tihomirova,Marc Tischkowitz,Amanda E. Toland,Rob A. E. M. Tollenaar,Ian Tomlinson,Ling Tong,Diana Torres,Diana Torres,Martine Tranchant,Thérèse Truong,Katherine L. Tucker,Nadine Tung,Jonathan Tyrer,Hans-Ulrich Ulmer,Celine M. Vachon,Christi J. van Asperen,David Van Den Berg,Ans M.W. van den Ouweland,Elizabeth J. van Rensburg,Liliana Varesco,Raymonda Varon-Mateeva,Ana Vega,Alessandra Viel,Joseph Vijai,Daniel Vincent,Jason Vollenweider,Lisa Walker,Zhaoming Wang,Shan Wang-Gohrke,Barbara Wappenschmidt,Clarice R. Weinberg,Jeffrey N. Weitzel,Camilla Wendt,Jelle Wesseling,Alice S. Whittemore,Juul T. Wijnen,Juul T. Wijnen,Walter C. Willett,Robert Winqvist,Alicja Wolk,Anna H. Wu,Lucy Xia,Xiaohong R. Yang,Drakoulis Yannoukakos,Daniela Zaffaroni,Wei Zheng,Bin Zhu,Argyrios Ziogas,Elad Ziv,Kristin K. Zorn,Manuela Gago-Dominguez,Arto Mannermaa,Håkan Olsson,Manuel R. Teixeira,Jennifer Stone,Jennifer Stone,Kenneth Offit,Laura Ottini,Sue K. Park,Sue K. Park,Mads Thomassen,Per Hall,Alfons Meindl,Rita K. Schmutzler,Arnaud Droit,Gary D. Bader,Paul D.P. Pharoah,Fergus J. Couch,Douglas F. Easton,Peter Kraft,Georgia Chenevix-Trench,Montserrat Garcia-Closas,Marjanka K. Schmidt,Antonis C. Antoniou,Jacques Simard +512 more
TL;DR: A genome-wide association study (GWAS) of predominantly estrogen receptor (ER)-positive disease and BRCA1 mutation carrier GWAS observed consistent associations with ER-negative disease for 105 susceptibility variants identified by other studies, which explain approximately 16% of the familial risk of this breast cancer subtype.
Journal ArticleDOI
Germline BAP1 mutations predispose to renal cell carcinomas.
Tatiana Popova,Lucie Hebert,Virginie Jacquemin,Sophie Gad,Virginie Caux-Moncoutier,Catherine Dubois-d’Enghien,Bénédicte Richaudeau,Xavier Renaudin,Jason Sellers,André Nicolas,Xavier Sastre-Garau,Laurence Desjardins,Gabor Gyapay,Virginie Raynal,Olga M. Sinilnikova,Nadine Andrieu,Elodie Manié,Antoine De Pauw,Paul Gesta,Valérie Bonadona,Christine Maugard,Clotilde Penet,Marie-Françoise Avril,Emmanuel Barillot,Emmanuel Barillot,Odile Cabaret,Olivier Delattre,Stéphane Richard,Olivier Caron,M. Benfodda,Hui-Han Hu,Nadem Soufir,Brigitte Bressac-de Paillerets,Dominique Stoppa-Lyonnet,Dominique Stoppa-Lyonnet,Marc-Henri Stern +35 more
TL;DR: Using whole-exome sequencing and tumor profiling in a family prone to cases of RCC, a germline BAP1 mutation c.277A>G (p.Thr93Ala) is identified as the probable genetic basis of R CC predisposition and BAP 1 was found to be inactivated in RCC-affected individuals from this family.
Journal ArticleDOI
Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.
Claude Houdayer,Virginie Caux-Moncoutier,Sophie Krieger,Michel Barrois,Françoise Bonnet,Violaine Bourdon,Myriam Bronner,Monique Buisson,Florence Coulet,Pascaline Gaildrat,Cédrick Lefol,Mélanie Léoné,Sylvie Mazoyer,Danielle Muller,Audrey Remenieras,Françoise Révillion,Etienne Rouleau,Joanna Sokolowska,Jean-Philippe Vert,Rosette Lidereau,Florent Soubrier,Hagay Sobol,Nicolas Sevenet,Brigitte Bressac-de Paillerets,Brigitte Bressac-de Paillerets,Agnès Hardouin,Mario Tosi,Olga M. Sinilnikova,Dominique Stoppa-Lyonnet,Dominique Stoppa-Lyonnet +29 more
TL;DR: This study embarked upon the largest BRCA1 and BRCa2 splice study to date by testing 272 VUSs within the BRC a splice network of Unicancer, and defined guidelines for transcript analysis along with a tentative classification of splice variants.