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Page 1
The transcriptional landscape of Shh medulloblastoma.
Skowron P, Farooq H, Cavalli FMG, Morrissy AS, Ly M, Hendrikse LD, Wang EY, Djambazian H, Zhu H, Mungall KL, Trinh QM, Zheng T, Dai S, Stucklin ASG, Vladoiu MC, Fong V, Holgado BL, Nor C, Wu X, Abd-Rabbo D, Bérubé P, Wang YC, Luu B, Suarez RA, Rastan A, Gillmor AH, Lee JJY, Zhang XY, Daniels C, Dirks P, Malkin D, Bouffet E, Tabori U, Loukides J, Doz FP, Bourdeaut F, Delattre OO, Masliah-Planchon J, Ayrault O, Kim SK, Meyronet D, Grajkowska WA, Carlotti CG, de Torres C, Mora J, Eberhart CG, Van Meir EG, Kumabe T, French PJ, Kros JM, Jabado N, Lach B, Pollack IF, Hamilton RL, Rao AAN, Giannini C, Olson JM, Bognár L, Klekner A, Zitterbart K, Phillips JJ, Thompson RC, Cooper MK, Rubin JB, Liau LM, Garami M, Hauser P, Li KKW, Ng HK, Poon WS, Yancey Gillespie G, Chan JA, Jung S, McLendon RE, Thompson EM, Zagzag D, Vibhakar R, Ra YS, Garre ML, Schüller U, Shofuda T, Faria CC, López-Aguilar E, Zadeh G, Hui CC, Ramaswamy V, Bailey SD, Jones SJ, Mungall AJ, Moore RA, Calarco JA, Stein LD, Bader GD, Reimand J, Ragoussis J, Weiss WA, Marra MA, Suzuki H, Taylor MD. Skowron P, et al. Nat Commun. 2021 Mar 19;12(1):1749. doi: 10.1038/s41467-021-21883-0. Nat Commun. 2021. PMID: 33741928 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
Familial uveal melanoma and other tumors in 25 families with monoallelic germline MBD4 variants.
Villy MC, Le Ven A, Le Mentec M, Masliah-Planchon J, Houy A, Bièche I, Vacher S, Vincent-Salomon A, Dubois d'Enghien C, Schwartz M, Piperno-Neumann S, Matet A, Malaise D, Bubien V, Lortholary A, Ait Omar A, Cavaillé M, Stoppa-Lyonnet D, Cassoux N, Stern MH, Rodrigues M, Golmard L, Colas C. Villy MC, et al. J Natl Cancer Inst. 2024 Apr 5;116(4):580-587. doi: 10.1093/jnci/djad248. J Natl Cancer Inst. 2024. PMID: 38060262
Mosaic BRCA1 promoter methylation contribution in hereditary breast/ovarian cancer pedigrees.
Schwartz M, Ibadioune S, Chansavang A, Vacher S, Caputo SM, Delhomelle H, Wong J, Abidallah K, Moncoutier V, Becette V, Popova T, Suybeng V, De Pauw A, Stern MH, Colas C, Mouret-Fourme E, Stoppa-Lyonnet D, Golmard L, Bieche I, Masliah-Planchon J. Schwartz M, et al. J Med Genet. 2024 Feb 21;61(3):284-288. doi: 10.1136/jmg-2023-109325. J Med Genet. 2024. PMID: 37748860
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.
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.
Deep intronic hotspot variant explaining rhabdoid tumor predisposition syndrome in two patients with atypical teratoid and rhabdoid tumor.
Tauziède-Espariat A, Masliah-Planchon J, Brugières L, Puget S, Dufour C, Schneider P, Laquerrière A, Frebourg T, Bodet D, Lechapt-Zalcman E, Pierron G, Delattre O, Varlet P, Bourdeaut F. Tauziède-Espariat A, et al. Eur J Hum Genet. 2017 Oct;25(10):1170-1172. doi: 10.1038/ejhg.2017.115. Epub 2017 Jul 19. Eur J Hum Genet. 2017. PMID: 28722703 Free PMC article.
Germline SUFU mutation carriers and medulloblastoma: clinical characteristics, cancer risk, and prognosis.
Guerrini-Rousseau L, Dufour C, Varlet P, Masliah-Planchon J, Bourdeaut F, Guillaud-Bataille M, Abbas R, Bertozzi AI, Fouyssac F, Huybrechts S, Puget S, Bressac-De Paillerets B, Caron O, Sevenet N, Dimaria M, Villebasse S, Delattre O, Valteau-Couanet D, Grill J, Brugières L. Guerrini-Rousseau L, et al. Neuro Oncol. 2018 Jul 5;20(8):1122-1132. doi: 10.1093/neuonc/nox228. Neuro Oncol. 2018. PMID: 29186568 Free PMC article.
SHH medulloblastoma in a young adult with a TCF4 germline pathogenic variation.
Blanluet M, Masliah-Planchon J, Giurgea I, Bielle F, Girard E, Andrianteranagna M, Clemenceau S, Bourneix C, Burglen L, Doummar D, Rapinat A, Oumoussa BM, Ayrault O, Pouponnot C, Gentien D, Pierron G, Delattre O, Doz F, Bourdeaut F. Blanluet M, et al. Acta Neuropathol. 2019 Apr;137(4):675-678. doi: 10.1007/s00401-019-01983-4. Epub 2019 Mar 8. Acta Neuropathol. 2019. PMID: 30848346 Free article. No abstract available.
127 results