C
Catherine Voegele
Researcher at International Agency for Research on Cancer
Publications - 46
Citations - 1429
Catherine Voegele is an academic researcher from International Agency for Research on Cancer. The author has contributed to research in topics: Biology & Medicine. The author has an hindex of 17, co-authored 35 publications receiving 1141 citations.
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Journal ArticleDOI
Rare mutations in XRCC2 increase the risk of breast cancer
Daniel J. Park,Fabienne Lesueur,Tu Nguyen-Dumont,Maroulio Pertesi,Fabrice Odefrey,Fleur Hammet,Susan L. Neuhausen,Esther M. John,Esther M. John,Irene L. Andrulis,Mary Beth Terry,M. Daly,Saundra S. Buys,F. Le Calvez-Kelm,Andrew Lonie,Bernard J. Pope,Helen Tsimiklis,Catherine Voegele,F.M. Hilbers,Nicoline Hoogerbrugge,Alicia Barroso,Ana Osorio,Graham G. Giles,Peter Devilee,Javier Benítez,John L. Hopper,Sean V. Tavtigian,David E. Goldgar,Melissa C. Southey +28 more
TL;DR: The identification of XRCC2 as a breast cancer susceptibility gene thus increases the proportion of breast cancers that are associated with homologous recombination-DNA-repair dysfunction and Fanconi anemia and could therefore benefit from specific targeted treatments such as PARP (poly ADP ribose polymerase) inhibitors.
Journal ArticleDOI
Rare, Evolutionarily Unlikely Missense Substitutions in ATM Confer Increased Risk of Breast Cancer
Sean V. Tavtigian,Peter J. Oefner,Davit Babikyan,Anne Hartmann,Sue Healey,Florence Le Calvez-Kelm,Fabienne Lesueur,Graham Byrnes,Shu Chun Chuang,Nathalie Forey,Corinna Feuchtinger,Lydie Gioia,Janet Hall,Mia Hashibe,Barbara Herte,Sandrine McKay-Chopin,Alun Thomas,Maxime Vallée,Catherine Voegele,Penelope M. Webb,David C. Whiteman,Suleeporn Sangrajrang,John L. Hopper,Melissa C. Southey,Irene L. Andrulis,Esther M. John,Esther M. John,Esther M. John,Georgia Chenevix-Trench +28 more
TL;DR: It is concluded that a comparison between the graded distributions of missense substitutions in cases versus controls can complement analyses of truncating variants and help identify susceptibility genes and that this approach will aid interpretation of the data emerging from new sequencing technologies.
Journal ArticleDOI
Determining the effectiveness of High Resolution Melting analysis for SNP genotyping and mutation scanning at the TP53 locus
Sonia Garritano,Sonia Garritano,Federica Gemignani,Catherine Voegele,Tu Nguyen-Dumont,Florence Le Calvez-Kelm,Deepika de Silva,Fabienne Lesueur,Stefano Landi,Sean V. Tavtigian +9 more
TL;DR: HRM is particularly suitable for either performing mutation scanning of a large number of samples, even in the situation where the amplicon(s) of interest harbor a common variant that may disturb the analysis, or in a context where gathering common SNP genotypes is of interest.
Journal ArticleDOI
Rare key functional domain missense substitutions in MRE11A , RAD50 , and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study
Francesca Damiola,Maroulio Pertesi,Javier Oliver,Florence Le Calvez-Kelm,Catherine Voegele,Erin L. Young,Nivonirina Robinot,Nathalie Forey,Geoffroy Durand,Maxime Vallée,Kayoko Tao,Terrell C Roane,Gareth J. Williams,John L. Hopper,John L. Hopper,Melissa C. Southey,Irene L. Andrulis,Esther M. John,Esther M. John,David E. Goldgar,Fabienne Lesueur,Fabienne Lesueur,Sean V. Tavtigian +22 more
TL;DR: It is established that MRE11A, RAD50, and NBN are intermediate-risk breast cancer susceptibility genes, and like ATM and CHEK2, their spectrum of pathogenic variants includes a relatively high proportion of missense substitutions.
Journal ArticleDOI
Integrative and comparative genomic analyses identify clinically relevant pulmonary carcinoid groups and unveil the supra-carcinoids
Nicolas Alcala,Noémie Leblay,Aurélie A G Gabriel,L. Mangiante,David Hervás,Theo Giffon,A. S. Sertier,A. Ferrari,Jules L. Derks,Akram Ghantous,Tiffany M. Delhomme,Amelie Chabrier,Cyrille Cuenin,Behnoush Abedi-Ardekani,Anne Boland,Robert Olaso,Vincent Meyer,Janine Altmüller,F. Le Calvez-Kelm,Geoffroy Durand,Catherine Voegele,Sandrine Boyault,L. Moonen,Nicolas Lemaitre,Philippe Lorimier,Anne-Claire Toffart,Alex Soltermann,Joachim H. Clement,Joerg Saenger,John K. Field,Marie Brevet,Cécile Blanc-Fournier,Françoise Galateau-Sallé,N. Le Stang,Prudence A. Russell,Gavin M. Wright,Gabriella Sozzi,Ugo Pastorino,Stéphanie Lacomme,Jean-Michel Vignaud,Véronique Hofman,Paul Hofman,O.T. Brustugun,O.T. Brustugun,Marius Lund-Iversen,V. Thomas de Montpreville,Lucia Anna Muscarella,Paolo Graziano,H. Popper,Jelena Stojsic,Jean-François Deleuze,Zdenko Herceg,A. Viari,Peter Nuernberg,Giuseppe Pelosi,Anne-Marie C. Dingemans,M. Milione,Luca Roz,Luka Brcic,Marco Volante,Mauro Papotti,Christophe Caux,Juan Sandoval,Hector Hernandez-Vargas,Elisabeth Brambilla,Ernst-Jan M. Speel,Nicolas Girard,Sylvie Lantuejoul,James D. McKay,Matthieu Foll,Lynnette Fernandez-Cuesta +70 more
TL;DR: A multi-omics analysis of pulmonary carcinoids reveals distinct molecular and prognostic subgroups, supporting the previously proposed molecular link between the low- and high-grade lung neuroendocrine neoplasms and confirming the value of OTP expression levels for the prognosis and diagnosis of these diseases.