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Page 1
A recurrent clonally distinct Burkitt lymphoma case highlights genetic key events contributing to oncogenesis.
Penther D, Viailly PJ, Latour S, Etancelin P, Bohers E, Vellemans H, Camus V, Menard AL, Coutant S, Lanic H, Lemasle E, Drieux F, Veresezan L, Ruminy P, Raimbault A, Soulier J, Frebourg T, Tilly H, Jardin F. Penther D, et al. Among authors: frebourg t. Genes Chromosomes Cancer. 2019 Aug;58(8):595-601. doi: 10.1002/gcc.22743. Epub 2019 Mar 27. Genes Chromosomes Cancer. 2019. PMID: 30779244 Free PMC article.
Digital PCR for quantification of recurrent and potentially actionable somatic mutations in circulating free DNA from patients with diffuse large B-cell lymphoma.
Camus V, Sarafan-Vasseur N, Bohers E, Dubois S, Mareschal S, Bertrand P, Viailly PJ, Ruminy P, Maingonnat C, Lemasle E, Stamatoullas A, Picquenot JM, Cornic M, Beaussire L, Bastard C, Frebourg T, Tilly H, Jardin F. Camus V, et al. Among authors: frebourg t. Leuk Lymphoma. 2016 Sep;57(9):2171-9. doi: 10.3109/10428194.2016.1139703. Epub 2016 Feb 17. Leuk Lymphoma. 2016. PMID: 26883583
Detection and prognostic value of recurrent exportin 1 mutations in tumor and cell-free circulating DNA of patients with classical Hodgkin lymphoma.
Camus V, Stamatoullas A, Mareschal S, Viailly PJ, Sarafan-Vasseur N, Bohers E, Dubois S, Picquenot JM, Ruminy P, Maingonnat C, Bertrand P, Cornic M, Tallon-Simon V, Becker S, Veresezan L, Frebourg T, Vera P, Bastard C, Tilly H, Jardin F. Camus V, et al. Among authors: frebourg t. Haematologica. 2016 Sep;101(9):1094-101. doi: 10.3324/haematol.2016.145102. Epub 2016 Jun 13. Haematologica. 2016. PMID: 27479820 Free PMC article.
Familial solitary chondrosarcoma resulting from germline EXT2 mutation.
Heddar A, Fermey P, Coutant S, Angot E, Sabourin JC, Michelin P, Parodi N, Charbonnier F, Vezain M, Bougeard G, Baert-Desurmont S, Frébourg T, Tournier I. Heddar A, et al. Among authors: frebourg t. Genes Chromosomes Cancer. 2017 Feb;56(2):128-134. doi: 10.1002/gcc.22419. Epub 2016 Oct 25. Genes Chromosomes Cancer. 2017. PMID: 27636706
Identification of Somatic Mutations in Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type by Massive Parallel Sequencing.
Mareschal S, Pham-Ledard A, Viailly PJ, Dubois S, Bertrand P, Maingonnat C, Fontanilles M, Bohers E, Ruminy P, Tournier I, Courville P, Lenormand B, Duval AB, Andrieu E, Verneuil L, Vergier B, Tilly H, Joly P, Frebourg T, Beylot-Barry M, Merlio JP, Jardin F. Mareschal S, et al. Among authors: frebourg t. J Invest Dermatol. 2017 Sep;137(9):1984-1994. doi: 10.1016/j.jid.2017.04.010. Epub 2017 May 4. J Invest Dermatol. 2017. PMID: 28479318 Free article.
Detection of somatic quantitative genetic alterations by multiplex polymerase chain reaction for the prediction of outcome in diffuse large B-cell lymphomas.
Jardin F, Ruminy P, Kerckaert JP, Parmentier F, Picquenot JM, Quief S, Villenet C, Buchonnet G, Tosi M, Frebourg T, Bastard C, Tilly H. Jardin F, et al. Among authors: frebourg t. Haematologica. 2008 Apr;93(4):543-50. doi: 10.3324/haematol.12251. Epub 2008 Feb 20. Haematologica. 2008. PMID: 18287131 Free article.
Kinetics, prognostic and predictive values of ESR1 circulating mutations in metastatic breast cancer patients progressing on aromatase inhibitor.
Clatot F, Perdrix A, Augusto L, Beaussire L, Delacour J, Calbrix C, Sefrioui D, Viailly PJ, Bubenheim M, Moldovan C, Alexandru C, Tennevet I, Rigal O, Guillemet C, Leheurteur M, Gouérant S, Petrau C, Théry JC, Picquenot JM, Veyret C, Frébourg T, Jardin F, Sarafan-Vasseur N, Di Fiore F. Clatot F, et al. Among authors: frebourg t. Oncotarget. 2016 Nov 15;7(46):74448-74459. doi: 10.18632/oncotarget.12950. Oncotarget. 2016. PMID: 27801670 Free PMC article.
Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorder.
Lecoquierre F, Bonnevalle A, Chadie A, Gayet C, Dumant-Forest C, Renaux-Petel M, Leca JB, Hazelzet T, Brasseur-Daudruy M, Louillet F, Muraine M, Coutant S, Quenez O, Boland A, Deleuze JF, Frebourg T, Goldenberg A, Saugier-Veber P, Guerrot AM, Nicolas G. Lecoquierre F, et al. Among authors: frebourg t. Am J Med Genet A. 2019 Nov;179(11):2257-2262. doi: 10.1002/ajmg.a.61317. Epub 2019 Aug 7. Am J Med Genet A. 2019. PMID: 31390136
Exome sequencing identifies the first genetic determinants of sirenomelia in humans.
Lecoquierre F, Brehin AC, Coutant S, Coursimault J, Bazin A, Finck W, Benoist G, Begorre M, Beneteau C, Cailliez D, Chenal P, De Jong M, Degré S, Devisme L, Francannet C, Gérard B, Jeanne C, Joubert M, Journel H, Laurichesse Delmas H, Layet V, Liquier A, Mangione R, Patrier S, Pelluard F, Petit F, Tillouche N, van Ravenswaaij-Arts C, Frebourg T, Saugier-Veber P, Gruchy N, Nicolas G, Gerard M. Lecoquierre F, et al. Among authors: frebourg t. Hum Mutat. 2020 May;41(5):926-933. doi: 10.1002/humu.23998. Epub 2020 Mar 1. Hum Mutat. 2020. PMID: 32058622
Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome.
Renaux-Petel M, Charbonnier F, Théry JC, Fermey P, Lienard G, Bou J, Coutant S, Vezain M, Kasper E, Fourneaux S, Manase S, Blanluet M, Leheup B, Mansuy L, Champigneulle J, Chappé C, Longy M, Sévenet N, Paillerets BB, Guerrini-Rousseau L, Brugières L, Caron O, Sabourin JC, Tournier I, Baert-Desurmont S, Frébourg T, Bougeard G. Renaux-Petel M, et al. Among authors: frebourg t. J Med Genet. 2018 Mar;55(3):173-180. doi: 10.1136/jmedgenet-2017-104976. Epub 2017 Oct 25. J Med Genet. 2018. PMID: 29070607
401 results