Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Gaelle Bougeard"'
Autor:
Gurinder Singh Atwal, Raúl Rabadán, Guillermina Lozano, Louise C Strong, Mariëlle W G Ruijs, Marjanka K Schmidt, Laura J van't Veer, Heli Nevanlinna, Johanna Tommiska, Kristiina Aittomäki, Gaelle Bougeard, Thierry Frebourg, Arnold J Levine, Gareth L Bond
Publikováno v:
PLoS ONE, Vol 3, Iss 4, p e1951 (2008)
Germline genetics, gender and hormonal-signaling pathways are all well described modifiers of cancer risk and progression. Although an improved understanding of how germline genetic variants interact with other cancer risk factors may allow better pr
Externí odkaz:
https://doaj.org/article/741cebaa5b2f40449be190f452376bc6
Autor:
Anna Kolodziejczak, Lea Guerrini-Rousseau, Julien Masliah Planchon, Jonas Ecker, Florian Selt, Martin Mynarek, Denise Obrecht, Martin Sill, Steffen Hirsch, Dominik Sturm, Sebastian M Waszak, Vijay Ramaswamy, Virve Pentikainen, Haci Ahmet Demir, Steven C Clifford, Ed Schwalbe, Luca Massimi, Matija Snuderl, Kristyn Galbraith, Matthias A Karajannis, Katie Hill, Bryan Li, Christine L White, Shelagh Redmond, Loizou Loizos, Marcus Jakob, Uwe Kordes, Irene Schmid, Julia Hauer, Claudia Blattmann, Maria Filippidou, Wolfram Scheurlen, Udo Kontny, Kerstin Grund, Christian Sutter, Torsten Pietsch, Cornelis M van Tilburg, Stephan Frank, Denis M Schewe, David Malkin, Michael D Taylor, Uri Tabori, Eric Bouffet, Marcel Kool, Felix Sahm, Andreas von Deimling, Andrey Korshunov, Katja Von Hoff, Christian Kratz, David T W Jones, Stefan Rutkowski, Olaf Witt, Gaelle Bougeard, Kristian W Pajtler, Stefan M Pfister, Franck Bourdeaut, Till Milde
PURPOSE: The prognosis for SHH-medulloblastoma (MB) patients with Li-Fraumeni syndrome (LFS) is poor. Due to lack of comprehensive data for these patients, it is challenging to establish effective therapeutic recommendations. We here describe the lar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15469ae7e19a9bc211d9763086a10d58
https://nrl.northumbria.ac.uk/id/eprint/49500/1/noac079.389.pdf
https://nrl.northumbria.ac.uk/id/eprint/49500/1/noac079.389.pdf
Autor:
Emilie Montellier, Nathanaël Lemonnier, Judith Penkert, Claire Freycon, Sandrine Blanchet, Amina Amadou, Florent Chuffart, Nicholas W. Fischer, Maria-Isabel Achatz, Arnold J. Levine, Catherine Goudie, David Malkin, Gaëlle Bougeard, Christian P. Kratz, Pierre Hainaut
Publikováno v:
iScience, Vol 27, Iss 12, Pp 111296- (2024)
Summary: Li-Fraumeni syndrome (LFS) is a heterogeneous predisposition to an individually variable spectrum of cancers caused by pathogenic TP53 germline variants. We used a clustering method to assign TP53 missense variants to classes based on their
Externí odkaz:
https://doaj.org/article/bb9a114b6fd34501b168dd0f04451138
Autor:
Lea Guerrini-Rousseau, Pauline Hoarau, Gaelle Bougeard, Lisa Golmard, Chrystelle Colas, Marion Gauthier-Villars, Claude Houdayer, Thierry Frebourg, Franck Bourdeaut, Laurence Brugieres
Publikováno v:
Neuro-Oncology. 24:i47-i47
A pathogenic or likely pathogenic variant (PV) in a major cancer predisposition gene is identified in almost 10% of children or young adults who developed a cancer, regardless of their family history. This incidence may increase by the development of
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