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Atypical teratoid/rhabdoid tumors (ATRTs) with SMARCA4 mutation are molecularly distinct from SMARCB1-deficient cases.
Holdhof D, Johann PD, Spohn M, Bockmayr M, Safaei S, Joshi P, Masliah-Planchon J, Ho B, Andrianteranagna M, Bourdeaut F, Huang A, Kool M, Upadhyaya SA, Bendel AE, Indenbirken D, Foulkes WD, Bush JW, Creytens D, Kordes U, Frühwald MC, Hasselblatt M, Schüller U. Holdhof D, et al. Acta Neuropathol. 2021 Feb;141(2):291-301. doi: 10.1007/s00401-020-02250-7. Epub 2020 Dec 17. Acta Neuropathol. 2021. PMID: 33331994 Free PMC article.
MSH3: a confirmed predisposing gene for adenomatous polyposis.
Villy MC, Masliah-Planchon J, Schnitzler A, Delhomelle H, Buecher B, Filser M, Merchadou K, Golmard L, Melaabi S, Vacher S, Blanluet M, Suybeng V, Corsini C, Dhooge M, Hamzaoui N, Farelly S, Ait Omar A, Benamouzig R, Caumette V, Bahuau M, Cucherousset J, Allory Y, Stoppa-Lyonnet D, Bieche I, Colas C. Villy MC, et al. J Med Genet. 2023 Nov 27;60(12):1198-1205. doi: 10.1136/jmg-2023-109341. J Med Genet. 2023. PMID: 37402566
Male breast cancer: No evidence for mosaic BRCA1 promoter methylation involvement.
Schwartz M, Ibadioune S, Vacher S, Villy MC, Trabelsi-Grati O, Le Gall J, Caputo SM, Delhomelle H, Warcoin M, Moncoutier V, Bourneix C, Boutry-Kryza N, De Pauw A, Stern MH, Buecher B, Mouret-Fourme E, Colas C, Stoppa-Lyonnet D, Masliah-Planchon J, Golmard L, Bieche I. Schwartz M, et al. Breast. 2024 Feb;73:103620. doi: 10.1016/j.breast.2023.103620. Epub 2023 Dec 10. Breast. 2024. PMID: 38096711 Free PMC article.
SWI/SNF chromatin remodeling and human malignancies.
Masliah-Planchon J, Bièche I, Guinebretière JM, Bourdeaut F, Delattre O. Masliah-Planchon J, et al. Annu Rev Pathol. 2015;10:145-71. doi: 10.1146/annurev-pathol-012414-040445. Epub 2014 Oct 27. Annu Rev Pathol. 2015. PMID: 25387058 Review.
SMARCA4 inactivation defines a group of undifferentiated thoracic malignancies transcriptionally related to BAF-deficient sarcomas.
Le Loarer F, Watson S, Pierron G, de Montpreville VT, Ballet S, Firmin N, Auguste A, Pissaloux D, Boyault S, Paindavoine S, Dechelotte PJ, Besse B, Vignaud JM, Brevet M, Fadel E, Richer W, Treilleux I, Masliah-Planchon J, Devouassoux-Shisheboran M, Zalcman G, Allory Y, Bourdeaut F, Thivolet-Bejui F, Ranchere-Vince D, Girard N, Lantuejoul S, Galateau-Sallé F, Coindre JM, Leary A, Delattre O, Blay JY, Tirode F. Le Loarer F, et al. Nat Genet. 2015 Oct;47(10):1200-5. doi: 10.1038/ng.3399. Epub 2015 Sep 7. Nat Genet. 2015. PMID: 26343384
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. 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
SMARCA4-Mutated Atypical Teratoid/Rhabdoid Tumor with Retained BRG1 Expression.
Masliah-Planchon J, Machet MC, Fréneaux P, Jourdain A, Mortemousque I, Raïs KA, Ballet S, Jouvet A, Figarella-Branger D, Delattre O, Bourdeaut F. Masliah-Planchon J, et al. Pediatr Blood Cancer. 2016 Mar;63(3):568-9. doi: 10.1002/pbc.25772. Epub 2015 Oct 15. Pediatr Blood Cancer. 2016. PMID: 26469284 No abstract available.
The occurrence of intracranial rhabdoid tumours in mice depends on temporal control of Smarcb1 inactivation.
Han ZY, Richer W, Fréneaux P, Chauvin C, Lucchesi C, Guillemot D, Grison C, Lequin D, Pierron G, Masliah-Planchon J, Nicolas A, Ranchère-Vince D, Varlet P, Puget S, Janoueix-Lerosey I, Ayrault O, Surdez D, Delattre O, Bourdeaut F. Han ZY, et al. Nat Commun. 2016 Jan 28;7:10421. doi: 10.1038/ncomms10421. Nat Commun. 2016. PMID: 26818002 Free PMC article.
Embryonic signature distinguishes pediatric and adult rhabdoid tumors from other SMARCB1-deficient cancers.
Richer W, Masliah-Planchon J, Clement N, Jimenez I, Maillot L, Gentien D, Albaud B, Chemlali W, Galant C, Larousserie F, Boudou-Rouquette P, Leruste A, Chauvin C, Han ZY, Coindre JM, Varlet P, Freneaux P, Ranchère-Vince D, Delattre O, Bourdeaut F. Richer W, et al. Oncotarget. 2017 May 23;8(21):34245-34257. doi: 10.18632/oncotarget.15939. Oncotarget. 2017. PMID: 28427232 Free PMC article.
127 results