Germline

Autor: Fanélie, Jouenne, Isaure, Chauvot de Beauchene, Emeline, Bollaert, Marie-Françoise, Avril, Olivier, Caron, Olivier, Ingster, Axel, Lecesne, Patrick, Benusiglio, Philippe, Terrier, Vincent, Caumette, Daniel, Pissaloux, Arnaud, de la Fouchardière, Odile, Cabaret, Birama, N'Diaye, Amélie, Velghe, Gaelle, Bougeard, Graham J, Mann, Serge, Koscielny, Jennifer H, Barrett, Mark, Harland, Julia, Newton-Bishop, Nelleke, Gruis, Remco, Van Doorn, Marion, Gauthier-Villars, Gaelle, Pierron, Dominique, Stoppa-Lyonnet, Isabelle, Coupier, Rosine, Guimbaud, Capucine, Delnatte, Jean-Yves, Scoazec, Alexander M, Eggermont, Jean, Feunteun, Luba, Tchertanov, Jean-Baptiste, Demoulin, Thierry, Frebourg, Brigitte, Bressac-de Paillerets

Publikováno v: Journal of medical genetics. 54(9)

Sarcomas are rare mesenchymal malignancies whose pathogenesis is poorly understood; both environmental and genetic risk factors could contribute to their aetiology.We performed whole-exome sequencing (WES) in a familial aggregation of three individua

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::067318fbc9bc6e7b93bdd22848c8a71a
https://pubmed.ncbi.nlm.nih.gov/28592523

Germline CDKN2A /P16INK4A mutations contribute to genetic determinism of sarcoma

Autor: Gaëlle Pierron, Gaëlle Bougeard, Jean-Baptiste Demoulin, Axel Lecesne, Daniel Pissaloux, Emeline Bollaert, Thierry Frebourg, Brigitte Bressac-de Paillerets, Serge Koscielny, Capucine Delnatte, Jean-Yves Scoazec, Isaure Chauvot de Beauchêne, Jennifer H. Barrett, Philippe Terrier, Arnaud de la Fouchardière, Graham J. Mann, Isabelle Coupier, Nelleke A. Gruis, Jean Feunteun, Birama N’Diaye, Alexander M.M. Eggermont, Dominique Stoppa-Lyonnet, Olivier Ingster, Luba Tchertanov, Rosine Guimbaud, Patrick R. Benusiglio, Olivier Caron, Fanélie Jouenne, Marie-Françoise Avril, Marion Gauthier-Villars, Remco van Doorn, Julia Newton-Bishop, Vincent Caumette, Mark Harland, Amélie Velghe, Odile Cabaret

Publikováno v: BASE-Bielefeld Academic Search Engine
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2017, 54 (9), pp.607-612. ⟨10.1136/jmedgenet-2016-104402⟩
Journal of Medical Genetics, BMJ Publishing Group, 2017, 〈10.1136/jmedgenet-2016-104402〉
Journal of Medical Genetics, 54(9), 607-612
Daniel PISSALOUX
Journal of Medical Genetics, 2017, 54 (9), pp.607-612. ⟨10.1136/jmedgenet-2016-104402⟩

International audience; BACKGROUND: Sarcomas are rare mesenchymal malignancies whose pathogenesis is poorly understood; both environmental and genetic risk factors could contribute to their aetiology.METHODS AND RESULTS: We performed whole-exome sequ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b4697f70271b5a9449ed5dc9a35c29c
https://hal.archives-ouvertes.fr/hal-02355798