Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Violaine Bourdon"'
Autor:
Jean Pascal Demba Diop, Rokhaya Ndiaye Diallo, Violaine Bourdon-Huguenin, Ahmadou Dem, Doudou Diouf, Mamadou Moustapha Dieng, Seydi Abdoul Ba, Yacouba Dia, Sidy Ka, Babacar Mbengue, Alassane Thiam, Oumar Faye, Papa Amadou Diop, Hagay Sobol, Alioune Dieye
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-7 (2019)
Abstract Background Pathogenic variants associated with hereditary breast cancer have been reported for BRCA1 and BRCA2 (BRCA1/2) genes in patients from multiple ethnicities, but limited information is available from sub-Saharan African populations.
Externí odkaz:
https://doaj.org/article/005e54af1784496ab5107c6934314197
Autor:
Sylviane Olschwang, Kai Yu, Christine Lasset, Stéphanie Baert-Desurmont, Marie-Pierre Buisine, Qing Wang, Pierre Hutter, Etienne Rouleau, Olivier Caron, Violaine Bourdon, Gilles Thomas
Publikováno v:
Journal of Cancer Epidemiology, Vol 2009 (2009)
Lynch syndrome is mostly characterized by early-onset colorectal and endometrial adenocarcinomas. Over 90% of the causal mutations occur in two mismatch repair genes, MSH2 and MLH1. The aim of this study was to evaluate the age-dependent cancer risk
Externí odkaz:
https://doaj.org/article/5e0f1bef701642f89e129fe61fa8440e
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
Supplementary Tables S1-S4. Table S1. Description of primers used in this study. Table S2. Variants selected in BRCA2 exon 12 and its flanking intronic regions. Table S3. Overview of bioinformatics predictions and experimental data obtained for the 4
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62e06557cf0fc6980f4916530d042458
https://doi.org/10.1158/0008-5472.22426126.v1
https://doi.org/10.1158/0008-5472.22426126.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:
Tetsuro Noguchi, Nouha Bouali, Sawsen Besbes, Paul Gesta, Violaine Bourdon, Walid Sabri Hamadou, Abderrahim Khelif, Hélène Dreyfus, Rahma Mani, Yosra Ben Youssef, Laurence Faivre, Zohra Soua, Hélène Zattara, Véronique Mari, Valérie Bonadona, Rym El Abed, Catherine Dugast, Hagay Sobol
Publikováno v:
Bulletin du Cancer. 108:798-805
Summary Introduction Apoptosis deregulation have been associated to tumorigenesis process and was highlighted as a prominent hallmark of cancer. Several mutations have been reported in several forms of Blood cancer. However, it has never been investi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00d3c5db6412681db8e8f39c18a11331
https://doi.org/10.1016/j.bulcan.2021.04.009
https://doi.org/10.1016/j.bulcan.2021.04.009
Autor:
Alioune Dieye, Seydi Abdoul Ba, Doudou Diouf, Philomène Lopez Sall, Hagay Sobol, Serigne Modou Kane Gueye, Violaine Bourdon-Huguenin, Mamadou Moustapha Dieng, Ahmadou Dem, Babacar Mbengue, Sidy Ka, Oumar Faye, Aynina Cisse, Pape Saloum Diop, Papa Madieye Gueye, Jean Pascal Demba Diop, Maguette Sylla Niang, Ndiaye R, Yacouba Dia, Thiam A, Papa Amadou Diop
Publikováno v:
npj Genomic Medicine, Vol 5, Iss 1, Pp 1-6 (2020)
NPJ Genomic Medicine
NPJ Genomic Medicine
BRCA1 and BRCA2 are the most incriminated genes in inherited breast/ovarian cancers. Several pathogenic variants of these genes conferring genetic predisposition have been described in different populations but rarely in sub-Saharan Africa. The objec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::293fe5a384f6cbceb1393ccd0b9f0671
http://link.springer.com/article/10.1038/s41525-020-0114-7
http://link.springer.com/article/10.1038/s41525-020-0114-7
Autor:
Etienne Rouleau, Agnès Hardouin, Claude Houdayer, Maurizio Ceppi, Florence Coulet, Christine Toulas, Laurent Castera, Violaine Bourdon, Dominique Stoppa-Lyonnet, Inès Schultz, Virginie Moncoutier, Anne-Françoise Tilkin-Mariamé, Sandrine M. Caputo, Ivan Bièche, Céline Bonnet, Julie Sesen, Françoise Bonnet, Dominique Telly, Adrien Briaux, Capucine Delnatte, Catherine Andrieu, Rosette Lidereau, Nicolas Sevenet, Sylvie Mazoyer, Nancy Uhrhammer, Marc-Henri Stern
Publikováno v:
Cancers
Volume 13
Issue 13
Cancers, Vol 13, Iss 3171, p 3171 (2021)
Volume 13
Issue 13
Cancers, Vol 13, Iss 3171, p 3171 (2021)
Background: Large genomic rearrangements (LGR) in BRCA1 consisting of deletions/duplications of one or several exons have been found throughout the gene with a large proportion occurring in the 5′ region from the promoter to exon 2. The aim of this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45bc4b52269a25669c0c4ff0a33255a7