Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Virginie, Caux Moncoutier"'
Autor:
Raphaël Leman, Hélène Tubeuf, Sabine Raad, Isabelle Tournier, Céline Derambure, Raphaël Lanos, Pascaline Gaildrat, Gaia Castelain, Julie Hauchard, Audrey Killian, Stéphanie Baert-Desurmont, Angelina Legros, Nicolas Goardon, Céline Quesnelle, Agathe Ricou, Laurent Castera, Dominique Vaur, Gérald Le Gac, Chandran Ka, Yann Fichou, Françoise Bonnet-Dorion, Nicolas Sevenet, Marine Guillaud-Bataille, Nadia Boutry-Kryza, Inès Schultz, Virginie Caux-Moncoutier, Maria Rossing, Logan C. Walker, Amanda B. Spurdle, Claude Houdayer, Alexandra Martins, Sophie Krieger
Publikováno v:
BMC Genomics, Vol 21, Iss 1, Pp 1-12 (2020)
Abstract Background Branch points (BPs) map within short motifs upstream of acceptor splice sites (3’ss) and are essential for splicing of pre-mature mRNA. Several BP-dedicated bioinformatics tools, including HSF, SVM-BPfinder, BPP, Branchpointer,
Externí odkaz:
https://doaj.org/article/da6b4502084e4b2a87009788da78c331
Autor:
Alexandra Martins, Shyam K. Sharan, Pascaline Gaildrat, Thierry Frebourg, Claude Houdayer, Dominique Stoppa-Lyonnet, Angela R. Solano, Laurence Venat-Bouvet, Chrystelle Colas, Séverine Audebert-Bellanger, Fátima Vaz, Pascal Pujol, Danièle Muller, Hélène Larbre, Violaine Bourdon, Françoise Bonnet-Dorion, Myriam Vezain, Daniela Di Giacomo, Aurélie Drouet, Omar Soukarieh, Eileen Southon, Susan Reid, Linda Cleveland, Marine Guillaud-Bataille, Capucine Delnatte, Nadia Boutry-Kryza, Mélanie Léoné, Françoise Révillion, Laëtitia Meulemans, Alice Fiévet, Gaia Castelain, Julie Hauchard, Virginie Caux-Moncoutier, Sophie Krieger, Julie Rondeaux, Teresa Sullivan, Sandrine M. Caputo, Hélène Tubeuf
Supp Tables S1-S6 (including variant classification, bioinformatics predictions versus experimental data, primer sequences, summary of biological, clinical, tumoral, familial and multifactorial data, and description of statistical analysis approaches
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71b0332a1ad78e42684beaf0be96661f
https://doi.org/10.1158/0008-5472.22426135.v1
https://doi.org/10.1158/0008-5472.22426135.v1
Autor:
Alexandra Martins, Shyam K. Sharan, Pascaline Gaildrat, Thierry Frebourg, Claude Houdayer, Dominique Stoppa-Lyonnet, Angela R. Solano, Laurence Venat-Bouvet, Chrystelle Colas, Séverine Audebert-Bellanger, Fátima Vaz, Pascal Pujol, Danièle Muller, Hélène Larbre, Violaine Bourdon, Françoise Bonnet-Dorion, Myriam Vezain, Daniela Di Giacomo, Aurélie Drouet, Omar Soukarieh, Eileen Southon, Susan Reid, Linda Cleveland, Marine Guillaud-Bataille, Capucine Delnatte, Nadia Boutry-Kryza, Mélanie Léoné, Françoise Révillion, Laëtitia Meulemans, Alice Fiévet, Gaia Castelain, Julie Hauchard, Virginie Caux-Moncoutier, Sophie Krieger, Julie Rondeaux, Teresa Sullivan, Sandrine M. Caputo, Hélène Tubeuf
BRCA2 is a clinically actionable gene implicated in breast and ovarian cancer predisposition that has become a high priority target for improving the classification of variants of unknown significance (VUS). Among all BRCA2 VUS, those causing partial
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::276434d538529130aa9d7a58debca642
https://doi.org/10.1158/0008-5472.c.6512242.v1
https://doi.org/10.1158/0008-5472.c.6512242.v1
Autor:
Pascaline Gaildrat, Alexandra Martins, Maaike P.G. Vreeswijk, Thierry Frebourg, Claude Houdayer, Dominique Stoppa-Lyonnet, Harry Vrieling, Lisa Golmard, Fabienne M.G.R. Calléja, Charlotte Grout, Aurélie Drouet, Maud Privat, Paul Vilquin, Sarab Lizard, Violaine Bourdon, Myriam Bronner, Virginie Guibert, Françoise Bonnet-Dorion, Omar Soukarieh, Hélène Tubeuf, Capucine Delnatte, Françoise Révillion, Johanna Sokolowska, Nadia Boutry-Kryza, Mélanie Léone, Virginie Caux-Moncoutier, Marine Guillaud-Bataille, Sophie Krieger, Sandrine M. Caputo, Romy L.S. Mesman, Laëtitia Meulemans
Fig. S1 to S10. Figure S1. Variant selection from human variation databases; Figure S2. Capillary electrophoresis analyses of BRCA2 exon 12 splicing patterns in minigene assays of presumed LoF variants; Figure S3. Bioinformatics predictions of 3'/5'
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::497aab6221fbe0213b7bd594d2f6afd9
https://doi.org/10.1158/0008-5472.22426123
https://doi.org/10.1158/0008-5472.22426123
Autor:
Pascaline Gaildrat, Alexandra Martins, Maaike P.G. Vreeswijk, Thierry Frebourg, Claude Houdayer, Dominique Stoppa-Lyonnet, Harry Vrieling, Lisa Golmard, Fabienne M.G.R. Calléja, Charlotte Grout, Aurélie Drouet, Maud Privat, Paul Vilquin, Sarab Lizard, Violaine Bourdon, Myriam Bronner, Virginie Guibert, Françoise Bonnet-Dorion, Omar Soukarieh, Hélène Tubeuf, Capucine Delnatte, Françoise Révillion, Johanna Sokolowska, Nadia Boutry-Kryza, Mélanie Léone, Virginie Caux-Moncoutier, Marine Guillaud-Bataille, Sophie Krieger, Sandrine M. Caputo, Romy L.S. Mesman, Laëtitia Meulemans
Germline nonsense and canonical splice site variants identified in disease-causing genes are generally considered as loss-of-function (LoF) alleles and classified as pathogenic. However, a fraction of such variants could maintain function through the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e068c6bd525556ede8c1593c3d5f2fa
https://doi.org/10.1158/0008-5472.c.6512236
https://doi.org/10.1158/0008-5472.c.6512236
Autor:
Marc-Henri Stern, Dominique Stoppa-Lyonnet, Anne Vincent-Salomon, Xavier Sastre-Garau, Claude Houdayer, Michel Longy, Marc Bollet, Brigitte Sigal-Zafrani, Olivier Delattre, Thierry Dubois, Carole Tirapo, Virginie Caux-Moncoutier, Guillaume Rieunier, Elodie Manié, Tatiana Popova
PDF file - 2.35MB, Experimental set of 65 BLCs, Processing SNP-arrays, Inferring chromosome number, Detection of tumor ploidy, Breakpoints estimation, Validation of LSTs by Next Generation Sequencing and Sanger sequencing, Features of LSTs, Distribut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f514b2f68fb2f623a8e9d91a7785f9e
https://doi.org/10.1158/0008-5472.22393902
https://doi.org/10.1158/0008-5472.22393902
Autor:
Marc-Henri Stern, Dominique Stoppa-Lyonnet, Anne Vincent-Salomon, Xavier Sastre-Garau, Claude Houdayer, Michel Longy, Marc Bollet, Brigitte Sigal-Zafrani, Olivier Delattre, Thierry Dubois, Carole Tirapo, Virginie Caux-Moncoutier, Guillaume Rieunier, Elodie Manié, Tatiana Popova
PDF file - 1.7MB, Figure S1. Near-diploid (A) and near-tetraploid (B) profiles and patterns of alteration detected with the GAP method in the series of BLCs (Affymetrix SNP6.0). Figure S2. Four outlying patterns of alteration found in the series of B
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::065514a4530520328951b468ef1fb05d
https://doi.org/10.1158/0008-5472.22393908
https://doi.org/10.1158/0008-5472.22393908
Autor:
Marc-Henri Stern, Dominique Stoppa-Lyonnet, Anne Vincent-Salomon, Xavier Sastre-Garau, Claude Houdayer, Michel Longy, Marc Bollet, Brigitte Sigal-Zafrani, Olivier Delattre, Thierry Dubois, Carole Tirapo, Virginie Caux-Moncoutier, Guillaume Rieunier, Elodie Manié, Tatiana Popova
BRCA1 inactivation is a frequent event in basal-like breast carcinomas (BLC). However, BRCA1 can be inactivated by multiple mechanisms and determining its status is not a trivial issue. As an alternate approach, we profiled 65 BLC cases using single-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::09e9dd56ef40597ebe45f6f61d0d2753
https://doi.org/10.1158/0008-5472.c.6503907.v1
https://doi.org/10.1158/0008-5472.c.6503907.v1
Autor:
Marc-Henri Stern, Dominique Stoppa-Lyonnet, Anne Vincent-Salomon, Xavier Sastre-Garau, Claude Houdayer, Michel Longy, Marc Bollet, Brigitte Sigal-Zafrani, Olivier Delattre, Thierry Dubois, Carole Tirapo, Virginie Caux-Moncoutier, Guillaume Rieunier, Elodie Manié, Tatiana Popova
PDF file - 511K, Figure S6. Persistence and robustness of the discriminating �window� independently of the method of LSTs evalutation (supplementary to Figure 2B). Figure S7. Two tumors with similar total numbers of breakpoints. Figure S8. Distri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d6a32a3f09ee370d867dfd95692992f
https://doi.org/10.1158/0008-5472.22393905.v1
https://doi.org/10.1158/0008-5472.22393905.v1
Autor:
Marc-Henri Stern, Dominique Stoppa-Lyonnet, Anne Vincent-Salomon, Xavier Sastre-Garau, Claude Houdayer, Michel Longy, Marc Bollet, Brigitte Sigal-Zafrani, Olivier Delattre, Thierry Dubois, Carole Tirapo, Virginie Caux-Moncoutier, Guillaume Rieunier, Elodie Manié, Tatiana Popova
PDF file - 198K, Table S1. Number of chromosomes in the cell lines according to ATCC description, SKY images, and GAP estimation. Table S2. Tumor ploidy and percentage of genomic states in tumor genome. Table S3. Validation of LSTs by NGS, PCR and Sa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91513d8690c10bc5bdfde25a20e46d3f
https://doi.org/10.1158/0008-5472.22393899.v1
https://doi.org/10.1158/0008-5472.22393899.v1