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Page 1
Postzygotic mosaicism of SMARCB1 variants in patients with rhabdoid tumors: A not-so-rare condition exposing to successive tumors.
Thomson G, Filser M, Guerrini-Rousseau L, Tauziede-Espariat A, Bourneix C, Gauthier-Villars M, Simaga F, Beccaria K, Faure-Conter C, Maureille A, Zattara-Cannoni H, Andre N, Entz-Werle N, Brugieres L, Mansuy L, Denizeau P, Julia S, Ingster O, Lejeune S, Brahimi A, Coupier I, Bonadona V, Delattre O, Masliah-Planchon J, Bourdeaut F. Thomson G, et al. Among authors: mansuy l. Neuro Oncol. 2024 Nov 4;26(11):2102-2112. doi: 10.1093/neuonc/noae122. Neuro Oncol. 2024. PMID: 39093628
Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk.
Baert-Desurmont S, Charbonnier F, Houivet E, Ippolito L, Mauillon J, Bougeard M, Abadie C, Malka D, Duffour J, Desseigne F, Colas C, Pujol P, Lejeune S, Dugast C, Buecher B, Faivre L, Leroux D, Gesta P, Coupier I, Guimbaud R, Berthet P, Manouvrier S, Cauchin E, Prieur F, Laurent-Puig P, Lebrun M, Jonveaux P, Chiesa J, Caron O, Morin-Meschin ME, Polycarpe-Osaer F, Giraud S, Zaanan A, Bonnet D, Mansuy L, Bonadona V, El Chehadeh S, Duhoux F, Gauthier-Villars M, Saurin JC, Collonge-Rame MA, Brugières L, Wang Q, Bressac-de Paillerets B, Rey JM, Toulas C, Buisine MP, Bronner M, Sokolowska J, Hardouin A, Cailleux AF, Sebaoui H, Blot J, Tinat J, Benichou J, Frebourg T. Baert-Desurmont S, et al. Among authors: mansuy l. Eur J Hum Genet. 2016 Jan;24(1):99-105. doi: 10.1038/ejhg.2015.72. Epub 2015 Apr 15. Eur J Hum Genet. 2016. PMID: 25873010 Free PMC article.
Balanced Translocations Disrupting SMARCB1 Are Hallmark Recurrent Genetic Alterations in Renal Medullary Carcinomas.
Calderaro J, Masliah-Planchon J, Richer W, Maillot L, Maille P, Mansuy L, Bastien C, de la Taille A, Boussion H, Charpy C, Jourdain A, Bléchet C, Pierron G, Gentien D, Choudat L, Tournigand C, Delattre O, Allory Y, Bourdeaut F. Calderaro J, et al. Among authors: mansuy l. Eur Urol. 2016 Jun;69(6):1055-61. doi: 10.1016/j.eururo.2015.09.027. Epub 2015 Oct 1. Eur Urol. 2016. PMID: 26433572
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: mansuy l. 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
Sequential Analysis of cfDNA Reveals Clonal Evolution in Patients with Neuroblastoma Receiving ALK-Targeted Therapy.
Bobin C, Iddir Y, Butterworth C, Masliah-Planchon J, Saint-Charles A, Bellini A, Bhalshankar J, Pierron G, Combaret V, Attignon V, André N, Corradini N, Dumont B, Mansuy L, Khanfar C, Klein S, Briandet C, Plantaz D, Millot F, Thouvenin S, Aerts I, Ndounga-Diakou LA, Laghouati S, Abbou S, Jehanno N, Tissot H, Renault S, Baulande S, Raynal V, Bozec L, Bieche I, Delattre O, Berlanga P, Schleiermacher G. Bobin C, et al. Among authors: mansuy l. Clin Cancer Res. 2024 Aug 1;30(15):3316-3328. doi: 10.1158/1078-0432.CCR-24-0753. Clin Cancer Res. 2024. PMID: 38787533 Free PMC article.
Medulloblastomas with ELP1 pathogenic variants: A weakly penetrant syndrome with a restricted spectrum in a limited age window.
Guerrini-Rousseau L, Masliah-Planchon J, Filser M, Tauziède-Espariat A, Entz-Werle N, Maugard CM, Hopman SMJ, Torrejon J, Gauthier-Villars M, Simaga F, Blauwblomme T, Beccaria K, Rouleau E, Dimaria M, Grill J, Abbou S, Claret B, Brugières L, Doz F, Bouchoucha Y, Faure-Conter C, Bonadona V, Mansuy L, de Carli E, Ingster O, Legrand C, Pagnier A, Berthet P, Bodet D, Julia S, Bertozzi AI, Wilems M, Maurage CA, Delattre O, Ayrault O, Dufour C, Bourdeaut F. Guerrini-Rousseau L, et al. Among authors: mansuy l. Neurooncol Adv. 2024 May 15;6(1):vdae075. doi: 10.1093/noajnl/vdae075. eCollection 2024 Jan-Dec. Neurooncol Adv. 2024. PMID: 38962751 Free PMC article.
Role of 18F-FDG-PET/CT in the initial staging of very high-risk Ewing Sarcoma in a prospective multicentric Phase II Study: Is there still a place for bone marrow sampling?
Jehanno N, Corradini N, Gaspar N, Brahmi M, Valentin T, Revon Rivière G, Lervat C, Probert J, Entz-Werle N, Mansuy L, Plantaz D, Rios M, Saumet L, Verité C, Castex MP, Thebaud E, Cassou-Mounat T, Plissonnier AS, Mosseri V, Cordero C, Laurence V. Jehanno N, et al. Among authors: mansuy l. Br J Cancer. 2024 Nov;131(10):1605-1612. doi: 10.1038/s41416-024-02864-8. Epub 2024 Oct 8. Br J Cancer. 2024. PMID: 39379569 Clinical Trial.
Li-Fraumeni-associated osteosarcomas: The French experience.
Saucier E, Bougeard G, Gomez-Mascard A, Schramm C, Abbas R, Berlanga P, Briandet C, Castex MP, Corradini N, Coze C, Guerrini-Rousseau L, Guinebretière JM, Khneisser P, Lervat C, Mansuy L, Marec-Berard P, Marie-Cardine A, Mascard E, Saumet L, Tabone MD, Winter S, Frebourg T, Gaspar N, Brugieres L. Saucier E, et al. Among authors: mansuy l. Pediatr Blood Cancer. 2024 Dec;71(12):e31362. doi: 10.1002/pbc.31362. Epub 2024 Oct 10. Pediatr Blood Cancer. 2024. PMID: 39387369
Nanopore Sequencing as a Cutting-Edge Technology for Medulloblastoma Classification.
Filser M, Torrejon J, Merchadou K, Dufour C, Girard E, Bourneix C, Lemaître E, Gharsalli T, Brillet R, Wong J, Gentien D, Rapinat A, Servant N, Vasiljevic A, Bertozzi AI, Raimbault S, Tauziede Espariat A, Lhermitte B, Faure-Conter C, Icher C, Berger C, Maurage CA, Bodet D, Meyronet D, Uro-Coste E, De Carli E, Forest F, Palenzuela G, Chotard G, Gauchotte G, Sudour H, Mansuy L, Deparis M, Tallegas M, Faisant M, Entz-Werle N, Varlet P, Leblond P, Michalak-Provost S, Proust Houdemont S, Rigau V, Doz F, Delattre O, Bourdeaut F, Ayrault O, Masliah-Planchon J. Filser M, et al. Among authors: mansuy l. Neuro Oncol. 2024 Dec 28:noae279. doi: 10.1093/neuonc/noae279. Online ahead of print. Neuro Oncol. 2024. PMID: 39731757
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.
Bertolotto C, Lesueur F, Giuliano S, Strub T, de Lichy M, Bille K, Dessen P, d'Hayer B, Mohamdi H, Remenieras A, Maubec E, de la Fouchardière A, Molinié V, Vabres P, Dalle S, Poulalhon N, Martin-Denavit T, Thomas L, Andry-Benzaquen P, Dupin N, Boitier F, Rossi A, Perrot JL, Labeille B, Robert C, Escudier B, Caron O, Brugières L, Saule S, Gardie B, Gad S, Richard S, Couturier J, Teh BT, Ghiorzo P, Pastorino L, Puig S, Badenas C, Olsson H, Ingvar C, Rouleau E, Lidereau R, Bahadoran P, Vielh P, Corda E, Blanché H, Zelenika D, Galan P; French Familial Melanoma Study Group; Aubin F, Bachollet B, Becuwe C, Berthet P, Bignon YJ, Bonadona V, Bonafe JL, Bonnet-Dupeyron MN, Cambazard F, Chevrant-Breton J, Coupier I, Dalac S, Demange L, d'Incan M, Dugast C, Faivre L, Vincent-Fétita L, Gauthier-Villars M, Gilbert B, Grange F, Grob JJ, Humbert P, Janin N, Joly P, Kerob D, Lasset C, Leroux D, Levang J, Limacher JM, Livideanu C, Longy M, Lortholary A, Stoppa-Lyonnet D, Mansard S, Mansuy L, Marrou K, Matéus C, Maugard C, Meyer N, Nogues C, Souteyrand P, Venat-Bouvet L, Zattara H, Chaudru V, Lenoir GM, Lathrop M, Davidson I, Avril MF, Demenais F, Ballotti R, Bressac-de Paillerets B. Bertolotto C, et al. Among authors: mansuy l. Nature. 2011 Oct 19;480(7375):94-8. doi: 10.1038/nature10539. Nature. 2011. PMID: 22012259
168 results