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A GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus.
Mobuchon L, Battistella A, Bardel C, Scelo G, Renoud A, Houy A, Cassoux N, Milder M, Cancel-Tassin G, Cussenot O, Delattre O, Besse C, Boland A, Deleuze JF, Cox DG, Stern MH. Mobuchon L, et al. NPJ Genom Med. 2017;2:5. doi: 10.1038/s41525-017-0008-5. Epub 2017 Mar 10. NPJ Genom Med. 2017. PMID: 28781888 Free PMC article.
Outlier response to anti-PD1 in uveal melanoma reveals germline MBD4 mutations in hypermutated tumors.
Rodrigues M, Mobuchon L, Houy A, Fiévet A, Gardrat S, Barnhill RL, Popova T, Servois V, Rampanou A, Mouton A, Dayot S, Raynal V, Galut M, Putterman M, Tick S, Cassoux N, Roman-Roman S, Bidard FC, Lantz O, Mariani P, Piperno-Neumann S, Stern MH. Rodrigues M, et al. Among authors: mobuchon l. Nat Commun. 2018 May 14;9(1):1866. doi: 10.1038/s41467-018-04322-5. Nat Commun. 2018. PMID: 29760383 Free PMC article.
[MBD4 inactivation induces a new mutator phenotype in cancers].
Rodrigues M, Mobuchon L, Houy A, Derrien AC, Stern MH. Rodrigues M, et al. Among authors: mobuchon l. Bull Cancer. 2018 Sep;105(9):736-737. doi: 10.1016/j.bulcan.2018.06.006. Epub 2018 Jul 19. Bull Cancer. 2018. PMID: 30032956 French. No abstract available.
[Role of MBD4 in hypermutator phenotype and malignant transformation].
Rodrigues M, Mobuchon L, Houy A, Derrien AC, Fiévet A, Stern MH. Rodrigues M, et al. Among authors: mobuchon l. Med Sci (Paris). 2018 Nov;34(11):925-927. doi: 10.1051/medsci/2018226. Epub 2018 Dec 10. Med Sci (Paris). 2018. PMID: 30526825 Free article. French. No abstract available.
Evolutionary Routes in Metastatic Uveal Melanomas Depend on MBD4 Alterations.
Rodrigues M, Mobuchon L, Houy A, Alsafadi S, Baulande S, Mariani O, Marande B, Ait Rais K, Van der Kooij MK, Kapiteijn E, Gassama S, Gardrat S, Barnhill RL, Servois V, Dendale R, Putterman M, Tick S, Piperno-Neumann S, Cassoux N, Pierron G, Waterfall JJ, Roman-Roman S, Mariani P, Stern MH. Rodrigues M, et al. Among authors: mobuchon l. Clin Cancer Res. 2019 Sep 15;25(18):5513-5524. doi: 10.1158/1078-0432.CCR-19-1215. Epub 2019 Jun 21. Clin Cancer Res. 2019. PMID: 31227496
Germline MBD4 Mutations and Predisposition to Uveal Melanoma.
Derrien AC, Rodrigues M, Eeckhoutte A, Dayot S, Houy A, Mobuchon L, Gardrat S, Lequin D, Ballet S, Pierron G, Alsafadi S, Mariani O, El-Marjou A, Matet A, Colas C, Cassoux N, Stern MH. Derrien AC, et al. Among authors: mobuchon l. J Natl Cancer Inst. 2021 Jan 4;113(1):80-87. doi: 10.1093/jnci/djaa047. J Natl Cancer Inst. 2021. PMID: 32239153 Free PMC article.
Functional characterization of 5p15.33 risk locus in uveal melanoma reveals rs452384 as a functional variant and NKX2.4 as an allele-specific interactor.
Derrien AC, Houy A, Ganier O, Dingli F, Ningarhari M, Mobuchon L, Espejo Díaz MI, Loew D, Cassoux N, Cussenot O, Cancel-Tassin G, Margueron R, Noirel J, Zucman-Rossi J, Rodrigues M, Stern MH. Derrien AC, et al. Among authors: mobuchon l. Am J Hum Genet. 2022 Dec 1;109(12):2196-2209. doi: 10.1016/j.ajhg.2022.11.004. Am J Hum Genet. 2022. PMID: 36459980 Free PMC article.
Three new cases of ataxia-telangiectasia-like disorder: No impairment of the ATM pathway, but S-phase checkpoint defect.
Fiévet A, Bellanger D, Valence S, Mobuchon L, Afenjar A, Giuliano F, Dubois d'Enghien C, Parfait B, Pedespan JM, Auger N, Rieunier G, Collet A, Burglen L, Stoppa-Lyonnet D, Stern MH. Fiévet A, et al. Among authors: mobuchon l. Hum Mutat. 2019 Oct;40(10):1690-1699. doi: 10.1002/humu.23773. Epub 2019 May 15. Hum Mutat. 2019. PMID: 31033087
20 results