Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Cédrick Lefol"'
Autor:
Agnès Collet, Julien Tarabeux, Elodie Girard, Catherine Dubois DEnghien, Lisa Golmard, Vivien Deshaies, Alban Lermine, Anthony Laugé, Virginie Moncoutier, Cédrick Lefol, Florence Copigny, Catherine Dehainault, Henrique Tenreiro, Christophe Guy, Khadija Abidallah, Catherine Barbaroux, Etienne Rouleau, Nicolas Servant, Antoine De Pauw, Dominique Stoppa-Lyonnet, Claude Houdayer
Publikováno v:
AIMS Genetics, Vol 2, Iss 4, Pp 263-280 (2015)
Panel sequencing is a practical option in genetic diagnosis. Enrichment and library preparation steps are critical in the diagnostic setting. In order to test the value of HaloPlex technology in diagnosis, we designed a custom oncogenetic panel inclu
Externí odkaz:
https://doaj.org/article/591a498b3eab416195ca9d1d0e38505d
Autor:
Qing, Wang, Julie, Leclerc, Gaëlle, Bougeard, Sylviane, Olschwang, Stéphanie, Vasseur, Kévin, Cassinari, Denis, Boidin, Cédrick, Lefol, Pierre, Naïbo, Thierry, Frébourg, Marie Pierre, Buisine, Stéphanie, Baert-Desurmont
Publikováno v:
Journal of medical genetics. 57(7)
Heterozygous germlineWe report 200Genomic rearrangements account for 18% of alterations. The c.137GT variant was observed in 18% of the patients, but a founder effect could not be clearly identified by haplotype analysis. Among class-4/5 variant carr
Autor:
Anthony Laugé, Vivien Deshaies, Catherine Dubois d'Enghien, Lisa Golmard, Agnès Collet, Catherine Barbaroux, Claude Houdayer, Nicolas Servant, Virginie Moncoutier, Etienne Rouleau, Alban Lermine, Cédrick Lefol, Catherine Dehainault, Florence Copigny, Julien Tarabeux, Dominique Stoppa-Lyonnet, Henrique Tenreiro, Antoine De Pauw, Khadija Abidallah, Christophe Guy, Elodie Girard
Publikováno v:
AIMS Genetics, Vol 2, Iss 4, Pp 263-280 (2015)
Panel sequencing is a practical option in genetic diagnosis. Enrichment and library preparation steps are critical in the diagnostic setting. In order to test the value of HaloPlex technology in diagnosis, we designed a custom oncogenetic panel inclu
Autor:
Marine Guillaud-Bataille, Pascaline Gaidrat, Ana Vega, Dominique Stoppa-Lyonnet, Inge Søkilde, Mads Thomassen, Ana Peixoto, Florence Coulet, Claude Houdayer, Nancy Uhrhammer, Danièle Muller, Ambre Petitalot, Sandrine M. Caputo, Rita D. Brandão, Hélène Tubeuf, Laurent Castera, Virginie Moncoutier, Olga M. Sinilnikova, Aura Carreira, Alexandra Martins, Gaia Castelain, Francesca Damiola, Åsa Ehlén, Etienne Rouleau, Capucine Delnatte, Nadia Boutry-Kryza, Mélanie Léoné, Myriam Bronner, Manuel R. Teixeira, Sophie Demontety, Henriette Roed Nielsen, Amanda B. Spurdle, Uffe Birk Jensen, Sophie Krieger, Cédrick Lefol
Publikováno v:
OncoTarget, 9(25), 17334-17348. Impact Journals LLC
Jensen, U B 2018, ' Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer. ' . https://doi.org/10.18632/oncotarget.24671
Caputo, S M, Léone, M, Damiola, F, Ehlen, A, Carreira, A, Gaidrat, P, Martins, A, Brandão, R D, Peixoto, A, Vega, A, Houdayer, C, Delnatte, C, Bronner, M, Muller, D, Castera, L, Guillaud-Bataille, M, Søkilde, I, Uhrhammer, N, Demontety, S, Tubeuf, H, Castelain, G, French COVAR group collaborators, Jensen, U B, Petitalot, A, Krieger, S, Lefol, C, Moncoutier, V, Boutry-Kryza, N, Nielsen, H R, Silninilkova, O, Stoppa-Lyonnet, D, Spurdle, A B, Teixeira, M R, Coulet, F, Thomassen, M & Rouleau, E 2018, ' Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer ', OncoTarget, vol. 9, no. 25, pp. 17334-17348 . https://doi.org/10.18632/oncotarget.24671
Oncotarget
Oncotarget, Impact journals, 2018, 9 (9), pp.17334-17348. ⟨10.18632/oncotarget.24671⟩
Caputo, S M, Léone, M, Damiola, F, Ehlen, A, Carreira, A, Gaidrat, P, Martins, A, Brandão, R D, Peixoto, A, Vega, A, Houdayer, C, Delnatte, C, Bronner, M, Muller, D, Castera, L, Guillaud-Bataille, M, Pedersen, I S, Uhrhammer, N, Demontety, S, Tubeuf, H, Castelain, G, French COVAR group collaborators, Jensen, U B, Petitalot, A, Krieger, S, Lefol, C, Moncoutier, V, Boutry-Kryza, N, Nielsen, H R, Sinilnikova, O, Stoppa-Lyonnet, D, Spurdle, A B, Teixeira, M R, Coulet, F, Thomassen, M & Rouleau, E 2018, ' Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer ', Oncotarget, vol. 9, no. 25, pp. 17334-17348 . https://doi.org/10.18632/oncotarget.24671
French COVAR group collaborators 2018, ' Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer ', Oncotarget, vol. 9, no. 25, pp. 17334-17348 . https://doi.org/10.18632/oncotarget.24671
Oncotarget, 2018, 9 (9), pp.17334-17348. ⟨10.18632/oncotarget.24671⟩
Jensen, U B 2018, ' Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer. ' . https://doi.org/10.18632/oncotarget.24671
Caputo, S M, Léone, M, Damiola, F, Ehlen, A, Carreira, A, Gaidrat, P, Martins, A, Brandão, R D, Peixoto, A, Vega, A, Houdayer, C, Delnatte, C, Bronner, M, Muller, D, Castera, L, Guillaud-Bataille, M, Søkilde, I, Uhrhammer, N, Demontety, S, Tubeuf, H, Castelain, G, French COVAR group collaborators, Jensen, U B, Petitalot, A, Krieger, S, Lefol, C, Moncoutier, V, Boutry-Kryza, N, Nielsen, H R, Silninilkova, O, Stoppa-Lyonnet, D, Spurdle, A B, Teixeira, M R, Coulet, F, Thomassen, M & Rouleau, E 2018, ' Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer ', OncoTarget, vol. 9, no. 25, pp. 17334-17348 . https://doi.org/10.18632/oncotarget.24671
Oncotarget
Oncotarget, Impact journals, 2018, 9 (9), pp.17334-17348. ⟨10.18632/oncotarget.24671⟩
Caputo, S M, Léone, M, Damiola, F, Ehlen, A, Carreira, A, Gaidrat, P, Martins, A, Brandão, R D, Peixoto, A, Vega, A, Houdayer, C, Delnatte, C, Bronner, M, Muller, D, Castera, L, Guillaud-Bataille, M, Pedersen, I S, Uhrhammer, N, Demontety, S, Tubeuf, H, Castelain, G, French COVAR group collaborators, Jensen, U B, Petitalot, A, Krieger, S, Lefol, C, Moncoutier, V, Boutry-Kryza, N, Nielsen, H R, Sinilnikova, O, Stoppa-Lyonnet, D, Spurdle, A B, Teixeira, M R, Coulet, F, Thomassen, M & Rouleau, E 2018, ' Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer ', Oncotarget, vol. 9, no. 25, pp. 17334-17348 . https://doi.org/10.18632/oncotarget.24671
French COVAR group collaborators 2018, ' Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer ', Oncotarget, vol. 9, no. 25, pp. 17334-17348 . https://doi.org/10.18632/oncotarget.24671
Oncotarget, 2018, 9 (9), pp.17334-17348. ⟨10.18632/oncotarget.24671⟩
International audience; Germline pathogenic variants in the BRCA2 gene are associated with a cumulative high risk of breast/ovarian cancer. Several BRCA2 variants result in complete loss of the exon-3 at the transcript level. The pathogenicity of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02d2619119e9c9a6b8e76d65fd9554d2
https://cris.maastrichtuniversity.nl/en/publications/8b131d59-e5b5-4cbb-a8c0-86e0cc1ae747
https://cris.maastrichtuniversity.nl/en/publications/8b131d59-e5b5-4cbb-a8c0-86e0cc1ae747
Autor:
V Guibert, Henrique Tenreiro, Dominique Stoppa-Lyonnet, Anthony Laugé, Stéphane Bézieau, Marion Gauthier-Villars, Adrien Briaux, A. De Pauw, Khadija Abidallah, Etienne Rouleau, Bruno Buecher, Claude Houdayer, Cédrick Lefol, Lisa Golmard, Capucine Delnatte, Paul Gesta, Virginie Moncoutier, Julien Tarabeux, Agnès Collet, Sandrine M. Caputo, Catherine Barbaroux, G Amorim, F Copigny, M Giraudeau, Christophe Guy, O Ingster, M-H Stern
Publikováno v:
Oncogene. 35:1324-1327
BRCA1 and BRCA2 are the two major genes predisposing to breast and ovarian cancer. Whereas high de novo mutation rates have been demonstrated for several genes, only 11 cases of de novo BRCA1/2 mutations have been reported to date and the BRCA1/2 de
Autor:
Ahmed Bouras, Clementine Legrand, Jihen Kourda, Eric Ruano, Chloé Grand‐Masson, Cedrick Lefol, Qing Wang
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 9, Pp n/a-n/a (2023)
Abstract Background The MLH1 gene is one of the DNA mismatch repair genes (MMR), implicated in Lynch syndrome (LS), an autosomal dominant hereditary tumor susceptibility disease. The advent of next‐generation sequencing (NGS) technologies has accel
Externí odkaz:
https://doaj.org/article/b529fed895ec4547819c48b86284c231
Autor:
Etienne Rouleau, Florence Coulet, Rosette Lidereau, Ivan Bièche, Violaine Bourdon, Hagay Sobol, Cédrick Lefol, Sylviane Olschwang, Tetsuro Noguchi, Florent Soubrier
Publikováno v:
Human Mutation. 30:867-875
Several techniques have been developed to screen mismatch repair (MMR) genes for deleterious mutations. Until now, two different techniques were required to screen for both point mutations and large rearrangements. For the first time, we propose a ne
Autor:
Etienne Rouleau, Damien Ambrosetti, Christian Baudoin, Bérengère Dadone, Florence Pedeutour, Jean-François Roussel, Alexandre Marsaud, Emmanuel Chamorey, Jean Amiel, Xavier Carpentier, Jean-François Michiels, Cédrick Lefol, Gaël Cristofari, Thibault Fabas
Publikováno v:
Genes, chromosomescancer. 54(6)
Papillary renal cell carcinoma (pRCC) is the second most frequent renal cell carcinoma (RCC) after clear cell RCC. In contrast to clear cell RCC, there is no consensual protocol using targeted therapy for metastatic pRCC. Moreover, diagnosis of some
Autor:
Florent Soubrier, Dominique Stoppa-Lyonnet, Françoise Bonnet, Sylvie Mazoyer, Monique Buisson, Joanna Sokolowska, Brigitte Bressac-de Paillerets, Françoise Révillion, Mario Tosi, Agnès Hardouin, Etienne Rouleau, Myriam Bronner, Danielle Muller, Claude Houdayer, Olga M. Sinilnikova, Cédrick Lefol, Violaine Bourdon, Hagay Sobol, Pascaline Gaildrat, Sophie Krieger, Florence Coulet, Michel Barrois, Nicolas Sevenet, Virginie Caux-Moncoutier, Audrey Remenieras, Jean-Philippe Vert, Rosette Lidereau, Mélanie Léoné
Publikováno v:
Human mutation. 33(8)
Assessing the impact of variants of unknown significance (VUS) on splicing is a key issue in molecular diagnosis. This impact can be predicted by in silico tools, but proper evaluation and user guidelines are lacking. To fill this gap, we embarked up
Autor:
Emmanuel Conseiller, Aurélie Thomas, Etienne Rouleau, Maurizio Ceppi, Rosette Lidereau, Cédrick Lefol, Aaron Bensimon, Kevin Cheeseman, Adrien Briaux, Pierre Walrafen, Anne Vannier
Publikováno v:
Human mutation. 33(6)
The BRCA1 and BRCA2 genes are involved in breast and ovarian cancer susceptibility. About 2 to 4% of breast cancer patients with positive family history, negative for point mutations, can be expected to carry large rearrangements in one of these two