Works matching AU Moncoutier, Virginie

Results: 18

Hereditary cancer predispositions: Comparison of multigene panel sequencing on fresh‐frozen breast/ovarian tumor versus blood.

Published in:

Clinical Genetics, 2023, v. 104, n. 1, p. 107, doi. 10.1111/cge.14327

By:

Schwartz, Mathias;
Moncoutier, Virginie;
Peytral, Adrien;
Le Gall, Jessica;
Suybeng, Voreak;
Pagès, Mélanie;
Masliah‐Planchon, Julien;
Trabelsi‐Grati, Olfa;
Melaabi, Samia;
Callens, Céline;
Bièche, Ivan;
Delhomelle, Hélène;
De Pauw, Antoine;
Saule, Claire;
Mouret‐Fourme, Emmanuelle;
Gauthier‐Villars, Marion;
Buecher, Bruno;
Colas, Chrystelle;
Stoppa‐Lyonnet, Dominique;
Golmard, Lisa

Publication type:

Article

Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 4, p. 535, doi. 10.1038/ejhg.2013.181

By:

Tarabeux, Julien;
Zeitouni, Bruno;
Moncoutier, Virginie;
Tenreiro, Henrique;
Abidallah, Khadija;
Lair, Séverine;
Legoix-Né, Patricia;
Leroy, Quentin;
Rouleau, Etienne;
Golmard, Lisa;
Barillot, Emmanuel;
Stern, Marc-Henri;
Rio-Frio, Thomas;
Stoppa-Lyonnet, Dominique;
Houdayer, Claude

Publication type:

Article

Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1471, doi. 10.1038/ejhg.2009.89

By:

Caux-Moncoutier, Virginie;
Pagès-Berhouet, Sabine;
Michaux, Dorothée;
Asselain, Bernard;
Castéra, Laurent;
De Pauw, Antoine;
Buecher, Bruno;
Gauthier-Villars, Marion;
Stoppa-Lyonnet, Dominique;
Houdayer, Claude

Publication type:

Article

A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 4, p. 473, doi. 10.1038/sj.ejhg.5201787

By:

Dehainault, Catherine;
Michaux, Dorothée;
Pagès-Berhouet, Sabine;
Caux-Moncoutier, Virginie;
Doz, François;
Desjardins, Laurence;
Couturier, Jérôme;
Parent, Philippe;
Stoppa-Lyonnet, Dominique;
Gauthier-Villars, Marion;
Houdayer, Claude

Publication type:

Article

Evaluation of in silico splice tools for decision-making in molecular diagnosis.

Published in:

Human Mutation, 2008, v. 29, n. 7, p. 975, doi. 10.1002/humu.20765

By:

Houdayer, Claude;
Dehainault, Catherine;
Mattler, Christophe;
Michaux, Dorothée;
Caux-Moncoutier, Virginie;
Pagès-Berhouet, Sabine;
d'Enghien, Catherine Dubois;
Laugé, Anthony;
Castera, Laurent;
Gauthier-Villars, Marion;
Stoppa-Lyonnet, Dominique

Publication type:

Article

Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #604 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/604.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 452, doi. 10.1002/humu.9133

By:

Berta Campos;
Orland Díez;
Fabrice Odefrey;
Montserrat Domènech;
Virginie Moncoutier;
José Ignacio Martínez-Ferrandis;
Ana Osorio;
Judith Balmaña;
Alicia Barroso;
María Eugenia Armengod;
Javier Benítez;
Carmen Alonso;
Dominique Stoppa-Lyonnet;
David Goldgar;
Montserrat Baiget

Publication type:

Article

Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from SpainCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #604 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/604.pdf

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 452, doi. 10.1002/humu.9133

By:

Berta Campos;
Orland Díez;
Fabrice Odefrey;
Montserrat Domènech;
Virginie Moncoutier;
José Ignacio Martínez?Ferrandis;
Ana Osorio;
Judith Balmaña;
Alicia Barroso;
María Eugenia Armengod;
Javier Benítez;
Carmen Alonso;
Dominique Stoppa?Lyonnet;
David Goldgar;
Montserrat Baiget

Publication type:

Article

Genomic hallmarks of homologous recombination deficiency in invasive breast carcinomas.

Published in:

International Journal of Cancer, 2016, v. 138, n. 4, p. 891, doi. 10.1002/ijc.29829

By:

Manié, Elodie;
Popova, Tatiana;
Battistella, Aude;
Tarabeux, Julien;
Caux‐Moncoutier, Virginie;
Golmard, Lisa;
Smith, Nicholas K.;
Mueller, Christopher R.;
Mariani, Odette;
Sigal‐Zafrani, Brigitte;
Dubois, Thierry;
Vincent‐Salomon, Anne;
Houdayer, Claude;
Stoppa‐Lyonnet, Dominique;
Stern, Marc‐Henri

Publication type:

Article

Loss of heterozygosity at 13q13 and 14q32 predicts BRCA2 inactivation in luminal breast carcinomas.

Published in:

International Journal of Cancer, 2013, v. 133, n. 12, p. 2834, doi. 10.1002/ijc.28315

By:

Pécuchet, Nicolas;
Popova, Tatiana;
Manié, Elodie;
Lucchesi, Carlo;
Battistella, Aude;
Vincent‐Salomon, Anne;
Caux‐Moncoutier, Virginie;
Bollet, Marc;
Sigal‐Zafrani, Brigitte;
Sastre‐Garau, Xavier;
Stoppa‐Lyonnet, Dominique;
Stern, Marc‐Henri

Publication type:

Article

Sporadic endometrial adenocarcinoma with MMR deficiency due to biallelic <italic>MSH2</italic> somatic mutations.

Published in:

Familial Cancer, 2018, v. 17, n. 2, p. 281, doi. 10.1007/s10689-017-0032-8

By:

Buecher, Bruno;
De Pauw, Antoine;
Bazire, Louis;
Houdayer, Claude;
Fievet, Alice;
Moncoutier, Virginie;
Farkhondeh, Fereshteh;
Melaabi, Samia;
Lyonnet, Dominique Stoppa;
Golmard, Lisa

Publication type:

Article

Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families.

Published in:

Oncogene, 2002, v. 21, n. 44, p. 6841, doi. 10.1038/sj.onc.1205685

By:

Gad, Sophie;
Caux-Moncoutier, Virginie;
Pages-Berhouet, Sabine;
Gauthier-Villars, Marion;
Coupier, Isabelle;
Pujol, Pascal;
Frenay, Marc;
Gilbert, Brigitte;
Maugard, Christine;
Bignon, Yves-Jean;
Chevrier, Annie;
Rossi, Annick;
Fricker, Jean-Pierre;
Nguyen, Tan Dat;
Demange, Liliane;
Aurias, Alain;
Bensimon, Aaron;
Stoppa-Lyonnet, Dominique

Publication type:

Article

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.

Published in:

Nucleic Acids Research, 2020, v. 48, n. 3, p. 1600, doi. 10.1093/nar/gkz1212

By:

Leman, Raphaël;
Gaildrat, Pascaline;
Le Gac, Gérald;
Ka, Chandran;
Fichou, Yann;
Audrezet, Marie-Pierre;
Caux-Moncoutier, Virginie;
Caputo, Sandrine M;
Boutry-Kryza, Nadia;
Léone, Mélanie;
Mazoyer, Sylvie;
Bonnet-Dorion, Françoise;
Sevenet, Nicolas;
Guillaud-Bataille, Marine;
Rouleau, Etienne;
Bressac-de Paillerets, Brigitte;
Wappenschmidt, Barbara;
Rossing, Maria;
Muller, Danielle;
Bourdon, Violaine

Publication type:

Article

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.

Published in:

Nucleic Acids Research, 2018, v. 46, n. 15, p. 7913, doi. 10.1093/nar/gky372

By:

Leman, Raphaël;
Gaildrat, Pascaline;
Gac, Gérald L;
Ka, Chandran;
Fichou, Yann;
Audrezet, Marie-Pierre;
Caux-Moncoutier, Virginie;
Caputo, Sandrine M;
Boutry-Kryza, Nadia;
Léone, Mélanie

Publication type:

Article

5′ Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints.

Published in:

Cancers, 2021, v. 13, n. 13, p. 3171, doi. 10.3390/cancers13133171

By:

Caputo, Sandrine M.;
Telly, Dominique;
Briaux, Adrien;
Sesen, Julie;
Ceppi, Maurizio;
Bonnet, Françoise;
Bourdon, Violaine;
Coulet, Florence;
Castera, Laurent;
Delnatte, Capucine;
Hardouin, Agnès;
Mazoyer, Sylvie;
Schultz, Inès;
Sevenet, Nicolas;
Uhrhammer, Nancy;
Bonnet, Céline;
Tilkin-Mariamé, Anne-Françoise;
Houdayer, Claude;
Moncoutier, Virginie;
Andrieu, Catherine

Publication type:

Article

Germline mutation in the RAD51B gene confers predisposition to breast cancer.

Published in:

2013

By:

Golmard, Lisa;
Caux-Moncoutier, Virginie;
Davy, Grégoire;
Al Ageeli, Essam;
Poirot, Brigitte;
Tirapo, Carole;
Michaux, Dorothée;
Barbaroux, Catherine;
Dubois d'Enghien, Catherine;
Nicolas, André;
Castera, Laurent;
Sastre-Garau, Xavier;
Stern, Marc-Henri;
Houdayer, Claude;
Stoppa-Lyonnet, Dominique;
d'Enghien, Catherine Dubois;
Castéra, Laurent

Publication type:

journal article

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/ in vitro studies on BRCA1 and BRCA2 variants.

Published in:

Human Mutation, 2012, v. 33, n. 8, p. 1228, doi. 10.1002/humu.22101

By:

Houdayer, Claude;
Caux-Moncoutier, Virginie;
Krieger, Sophie;
Barrois, Michel;
Bonnet, Françoise;
Bourdon, Violaine;
Bronner, Myriam;
Buisson, Monique;
Coulet, Florence;
Gaildrat, Pascaline;
Lefol, Cédrick;
Léone, Mélanie;
Mazoyer, Sylvie;
Muller, Danielle;
Remenieras, Audrey;
Révillion, Françoise;
Rouleau, Etienne;
Sokolowska, Joanna;
Vert, Jean-Philippe;
Lidereau, Rosette

Publication type:

Article

EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients.

Published in:

Human Mutation, 2011, v. 32, n. 3, p. 325, doi. 10.1002/humu.21414

By:

Caux-Moncoutier, Virginie;
Castéra, Laurent;
Tirapo, Carole;
Michaux, Dorothée;
Rémon, Marie-Alice;
Laugé, Anthony;
Rouleau, Etienne;
De Pauw, Antoine;
Buecher, Bruno;
Gauthier-Villars, Marion;
Viovy, Jean-Louis;
Stoppa-Lyonnet, Dominique;
Houdayer, Claude

Publication type:

Article

Fidelity of DNA double-strand break repair in heterozygous cell lines harbouring BRCA1 missense mutations.

Published in:

Oncogene, 2004, v. 23, n. 4, p. 914, doi. 10.1038/sj.onc.1207191

By:

Coupier, Isabelle;
Baldeyron, Céline;
Rousseau, Alexandra;
Mosseri, Véronique;
Pages-Berhouet, Sabine;
Caux-Moncoutier, Virginie;
Papadopoulo, Dora;
Stoppa-Lyonnet, Dominique

Publication type:

Article