L
Lenha Mobuchon
Researcher at PSL Research University
Publications - 14
Citations - 205
Lenha Mobuchon is an academic researcher from PSL Research University. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 5, co-authored 9 publications receiving 135 citations. Previous affiliations of Lenha Mobuchon include French Institute of Health and Medical Research & Curie Institute.
Papers
More filters
Journal ArticleDOI
Outlier response to anti-PD1 in uveal melanoma reveals germline MBD4 mutations in hypermutated tumors
Manuel Rodrigues,Lenha Mobuchon,Alexandre Houy,Alice Fiévet,Sophie Gardrat,Raymond L. Barnhill,Raymond L. Barnhill,Tatiana Popova,Vincent Servois,Aurore Rampanou,Aurore Mouton,Stéphane Dayot,Virginie Raynal,Michèle Galut,Marc Putterman,Sarah Tick,Nathalie Cassoux,Nathalie Cassoux,Sergio Roman-Roman,François-Clément Bidard,François-Clément Bidard,Olivier Lantz,Pascale Mariani,Sophie Piperno-Neumann,Marc-Henri Stern +24 more
TL;DR: A new hypermutated phenotype due to germline mutations and subsequent somatic loss of heterozygosity of MBD4 is described, and a dramatic response to the PD-1 inhibitor pembrolizumab in a patient with a MBD 4-inactivatedHypermutated uveal melanoma is presented.
Journal ArticleDOI
Evolutionary Routes in Metastatic Uveal Melanomas Depend on MBD4 Alterations.
Manuel Rodrigues,Lenha Mobuchon,Alexandre Houy,Samar Alsafadi,Sylvain Baulande,Odette Mariani,Benjamin Marande,Khadija Aït Raïs,Monique K van der Kooij,Ellen Kapiteijn,Sieta Gassama,Sophie Gardrat,Raymond L. Barnhill,Raymond L. Barnhill,Vincent Servois,Rémi Dendale,Marc Putterman,Sarah Tick,Sophie Piperno-Neumann,Nathalie Cassoux,Nathalie Cassoux,Gaëlle Pierron,Joshua J. Waterfall,Sergio Roman-Roman,Pascale Mariani,Marc-Henri Stern +25 more
TL;DR: MBD4-proficient uveal melanomas are stable at the nucleotide level, without new actionable alterations when metastatic, in contrast to MBD4 deficiency, which is associated with high genetic heterogeneity and acquisition of new driver mutations.
Journal ArticleDOI
Germline MBD4 Mutations and Predisposition to Uveal Melanoma
Anne-Céline Derrien,Manuel Rodrigues,Manuel Rodrigues,Alexandre Eeckhoutte,Stéphane Dayot,Alexandre Houy,Lenha Mobuchon,Sophie Gardrat,Sophie Gardrat,Delphine Lequin,Stelly Ballet,Gaëlle Pierron,Samar Alsafadi,Samar Alsafadi,Odette Mariani,Ahmed El-Marjou,Alexandre Matet,Alexandre Matet,Chrystelle Colas,Nathalie Cassoux,Nathalie Cassoux,Marc-Henri Stern,Marc-Henri Stern +22 more
TL;DR: It is demonstrated that MBD 4 is a new predisposing gene for UM associated with hypermutated M3 tumors and the tumor spectrum of this predisposing condition will likely expand with the addition of MBD4 to diagnostic panels.
Journal ArticleDOI
Three new cases of ataxia‐telangiectasia‐like disorder: No impairment of the ATM pathway, but S‐phase checkpoint defect
Alice Fiévet,Alice Fiévet,Alice Fiévet,Dorine Bellanger,Dorine Bellanger,Stéphanie Valence,Lenha Mobuchon,Lenha Mobuchon,Alexandra Afenjar,Fabienne Giuliano,Catherine Dubois d'Enghien,Béatrice Parfait,Jean-Michel Pedespan,Nathalie Auger,Guillaume Rieunier,Guillaume Rieunier,Agnès Collet,Lydie Burglen,Dominique Stoppa-Lyonnet,Dominique Stoppa-Lyonnet,Dominique Stoppa-Lyonnet,Marc-Henri Stern,Marc-Henri Stern,Marc-Henri Stern +23 more
TL;DR: The first three French ATLD patients are reported and a French founder variant is reported, and an S‐phase checkpoint activation study is proposed to evaluate the pathogenicity of MRE11 variants.
Journal ArticleDOI
A GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus.
Lenha Mobuchon,Aude Battistella,Claire Bardel,Ghislaine Scelo,Alexia Renoud,Alexandre Houy,Nathalie Cassoux,Maud Milder,Geraldine Cancel-Tassin,Olivier Cussenot,Olivier Delattre,Céline Besse,Anne Boland,Jean-François Deleuze,David G. Cox,Marc-Henri Stern +15 more
TL;DR: expression analyses showed that the CLPTM1L gene contained in this region was more expressed in people with the risk variants, pointing to CLPTL1L playing a role in tumor development.