11 results on '"Cecile Reyes"'
Search Results
2. Supplementary Figure S1 from Chromatin Regulators as a Guide for Cancer Treatment Choice
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Geneviève Almouzni, Paul Cottu, Yves Pommier, Alfonso Valencia, David Gentien, Elisabetta Marangoni, Cecile Reyes, Fabricio G. Sousa, Sophie Postel-Vinay, Vera Pancaldi, Laurence O.W. Wilson, and Zachary A. Gurard-Levin
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Chromatin regulators included in this study
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- 2023
3. Supplementary Table S1 from Chromatin Regulators as a Guide for Cancer Treatment Choice
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Geneviève Almouzni, Paul Cottu, Yves Pommier, Alfonso Valencia, David Gentien, Elisabetta Marangoni, Cecile Reyes, Fabricio G. Sousa, Sophie Postel-Vinay, Vera Pancaldi, Laurence O.W. Wilson, and Zachary A. Gurard-Levin
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Clinical characteristics of the Institut Curie patient cohort
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- 2023
4. Multi-omics comparison of malignant and normal uveal melanocytes reveals molecular features of uveal melanoma
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David Gentien, Elnaz Saberi-Ansari, Nicolas Servant, Ariane Jolly, Pierre de la Grange, Fariba Némati, Géraldine Liot, Simon Saule, Aurélie Teissandier, Deborah Bourc’his, Elodie Girard, Jennifer Wong, Julien Masliah-Planchon, Erkan Narmanli, Yuanlong Liu, Emma Torun, Rebecca Goulancourt, Manuel Rodrigues, Laure Villoing Gaudé, Cécile Reyes, Matéo Bazire, Thomas Chenegros, Emilie Henry, Audrey Rapinat, Mylene Bohec, Sylvain Baulande, Radhia M’kacher, Eric Jeandidier, André Nicolas, Giovanni Ciriello, Raphael Margueron, Didier Decaudin, Nathalie Cassoux, Sophie Piperno-Neumann, Marc-Henri Stern, Johan Harmen Gibcus, Job Dekker, Edith Heard, Sergio Roman-Roman, and Joshua J. Waterfall
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CP: Cancer ,Biology (General) ,QH301-705.5 - Abstract
Summary: Uveal melanoma (UM) is a rare cancer resulting from the transformation of melanocytes in the uveal tract. Integrative analysis has identified four molecular and clinical subsets of UM. To improve our molecular understanding of UM, we performed extensive multi-omics characterization comparing two aggressive UM patient-derived xenograft models with normal choroidal melanocytes, including DNA optical mapping, specific histone modifications, and DNA topology analysis using Hi-C. Our gene expression and cytogenetic analyses suggest that genomic instability is a hallmark of UM. We also identified a recurrent deletion in the BAP1 promoter resulting in loss of expression and associated with high risk of metastases in UM patients. Hi-C revealed chromatin topology changes associated with the upregulation of PRAME, an independent prognostic biomarker in UM, and a potential therapeutic target. Our findings illustrate how multi-omics approaches can improve our understanding of tumorigenesis and reveal two distinct mechanisms of gene expression dysregulation in UM.
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- 2023
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5. A First High-Density Map of 981 Biallelic Markers on Human Chromosome 14
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Jacques S. Beckmann, Jean Weissenbach, T. Asao Fujiyama, Thomas Brüls, Jean-Louis Escary, Richard S. Cooper, G. Mark Lathrop, Yao Fiawoumo, Emmanuel Bottius, Christophe Caloustian, Gabor Gyapay, Cecile Reyes, Adebowale Adeyemo, Nathalie Prince, and T. Mario Foglio
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Chromosomes, Human, Pair 14 ,Genetic Markers ,Genetics ,Heterozygote ,Expressed sequence tag ,Polymorphism, Genetic ,dbSNP ,Contig ,Haplotype ,Chromosome Mapping ,Biology ,SNP genotyping ,Structural variation ,Gene mapping ,Genetic marker ,Humans ,Alleles - Abstract
As the largest set of sequence variants, single-nucleotide polymorphisms (SNPs) constitute powerful assets for mapping genes and mutations related to common diseases and for pharmacogenetic studies. A major goal in human genetics is to establish a high-density map of the genome containing several hundred thousand SNPs. Here we assayed 3.7 Mb (154,397 bp in 24 alleles) of chromosome 14 expressed sequence tags (ESTs) and sequence-tagged sites, for sequence variation in DNA samples from 12 African individuals. We identified and mapped 480 biallelic markers (459 SNPs and 21 small insertions and deletions), equally distributed between EST and non-EST classes. Extensive research in public databases also yielded 604 chromosome 14 SNPs (dbSNPs), 520 of which could be mapped and 19 of which are common between CNG (i.e., identified at the Centre National de Génotypage) and dbSNP polymorphisms. We present a dense map of SNP variation of human chromosome 14 based on 981 nonredundant biallelic markers present among 1345 radiation hybrid mapped sequence objects. Next, bioinformatic tools allowed 945 significant sequence alignments to chromosome 14 contigs, giving the precise chromosome sequence position for 70% of the mapped sequences and SNPs. In addition, these tools also permitted the identification and mapping of 273 SNPs in 159 known genes. The availability of this SNP map will permit a wide range of genetic studies on a complete chromosome. The recognition of 45 genes with multiple SNPs, by allowing the construction of haplotypes, should facilitate pharmacogenetic studies in the corresponding regions.
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- 2000
6. Linkage analysis of candidate myelin genes in familial multiple sclerosis
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Jonathan L. Haines, Jackie B. Rimmler, O. Boesplug-Tanguy, Margaret A. Pericak-Vance, A. Dautigny, Melissa E. Garcia, Sabine Fauré, C. Gartioux, Cécile Fizames, Florence Ribierre, Robin R. Lincoln, R. Carsique, Stephen L. Hauser, Antony Rombos, Jorge R. Oksenberg, Eric Seboun, R. Fitoussi, Cecile Reyes, D. Pham-Dinh, Koishiro Usuku, Gabor Gyapay, Donald E. Goodkin, Jean Weissenbach, and Michael Wong
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Genetic Markers ,Multiple Sclerosis ,Proteolipid protein 1 ,Genotype ,Genetic Linkage ,Population ,GPI-Linked Proteins ,White People ,Myelin oligodendrocyte glycoprotein ,Cellular and Molecular Neuroscience ,Myelin ,Genetic linkage ,Genetics ,Demyelinating disease ,medicine ,Humans ,Myelin Proteolipid Protein ,education ,Genetics (clinical) ,DNA Primers ,Family Health ,education.field_of_study ,biology ,Myelin Basic Protein ,medicine.disease ,Myelin basic protein ,Myelin-Associated Glycoprotein ,Oligodendrocyte-Myelin Glycoprotein ,medicine.anatomical_structure ,nervous system ,biology.protein ,Myelin-Oligodendrocyte Glycoprotein ,Myelin Proteins - Abstract
Multiple sclerosis (MS) is an autoimmune demyelinating disease of the central nervous system. A complex genetic etiology is thought to underlie susceptibility to this disease. The present study was designed to analyze whether differences in genes that encode myelin proteins influence susceptibility to MS. We performed linkage analysis of MS to markers in chromosomal regions that include the genes encoding myelin basic protein (MBP), proteolipid protein (PLP), myelin-associated glycoprotein (MAG), oligodendrocyte myelin glycoprotein (OMGP), and myelin oligodendrocyte glycoprotein (MOG) in a well-characterized population of 65 multiplex MS families consisting of 399 total individuals, 169 affected with MS and 102 affected sibpairs. Physical mapping data permitted placement of MAG and PLP genes on the Genethon genetic map; all other genes were mapped on the Genethon genetic map by linkage analysis. For each gene, at least one marker within the gene and/or two tightly linked flanking markers were analyzed. Marker data analysis employed a combination of genetic trait model-dependent (parametric) and model-independent linkage methods. Results indicate that MAG, MBP, OMGP, and PLP genes do not have a significant genetic effect on susceptibility to MS in this population. As MOG resides within the MHC, a potential role of the MOG gene could not be excluded.
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- 1999
7. HRAS is a therapeutic target in malignant chemo-resistant adenomyoepithelioma of the breast
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Ivan Bièche, Florence Coussy, Rania El-Botty, Sophie Vacher, Sophie Château-Joubert, Ahmed Dahmani, Elodie Montaudon, Cécile Reyes, David Gentien, Fabien Reyal, Francesco Ricci, André Nicolas, Caterina Marchio, Anne Vincent-Salomon, Marick Laé, and Elisabetta Marangoni
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Adenomyoepithelioma ,HRAS ,PDX ,MEK inhibitor ,Diseases of the blood and blood-forming organs ,RC633-647.5 ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,RC254-282 - Abstract
Abstract Malignant adenomyoepithelioma (AME) of the breast is an exceptionally rare form of breast cancer, with a significant metastatic potential. Chemotherapy has been used in the management of advanced AME patients, however the majority of treatments are not effective. Recent studies report recurrent mutations in the HRAS Q61 hotspot in small series of AMEs, but there are no preclinical or clinical data showing H-Ras protein as a potential therapeutic target in malignant AMEs. We performed targeted sequencing of tumours’ samples from new series of 13 AMEs, including 9 benign and 4 malignant forms. Samples from the breast tumour and the matched axillary metastasis of one malignant HRAS mutated AME were engrafted and two patient-derived xenografts (PDX) were established that reproduced the typical AME morphology. The metastasis-derived PDX was treated in vivo by different chemotherapies and a combination of MEK and BRAF inhibitors (trametinib and dabrafenib). All malignant AMEs presented a recurrent mutation in the HRAS G13R or G12S hotspot. Mutation of PIK3CA were found in both benign and malignant AMEs, while AKT1 mutations were restricted to benign AMEs. Treatment of the PDX by the MEK inhibitor trametinib, resulted in a marked anti-tumor activity, in contrast to the BRAF inhibitor and the different chemotherapies that were ineffective. Overall, these findings further expand on the genetic features of AMEs and suggest that patients carrying advanced HRAS-mutated AMEs could potentially be treated with MEK inhibitors.
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- 2021
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8. PLK1 inhibition exhibits strong anti-tumoral activity in CCND1-driven breast cancer metastases with acquired palbociclib resistance
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Elodie Montaudon, Joanna Nikitorowicz-Buniak, Laura Sourd, Ludivine Morisset, Rania El Botty, Léa Huguet, Ahmed Dahmani, Pierre Painsec, Fariba Nemati, Sophie Vacher, Walid Chemlali, Julien Masliah-Planchon, Sophie Château-Joubert, Camilla Rega, Mariana Ferreira Leal, Nikiana Simigdala, Sunil Pancholi, Ricardo Ribas, André Nicolas, Didier Meseure, Anne Vincent-Salomon, Cécile Reyes, Audrey Rapinat, David Gentien, Thibaut Larcher, Mylène Bohec, Sylvain Baulande, Virginie Bernard, Didier Decaudin, Florence Coussy, Muriel Le Romancer, Guillaume Dutertre, Zakia Tariq, Paul Cottu, Keltouma Driouch, Ivan Bièche, Lesley-Ann Martin, and Elisabetta Marangoni
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Science - Abstract
Identifying novel therapies for the treatment of CDK4/6 inhibitor-resistant patients is of great importance. Here, the authors demonstrate that PLK1 inhibition is a potential therapeutic target in CCND1-driven and in RB-positive Palbociclib-resistant breast cancers.
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- 2020
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9. Decentralization of Next-Generation RNA Sequencing-Based MammaPrint® and BluePrint® Kit at University Hospitals Leuven and Curie Institute Paris
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Laurence Slembrouck, Lauren Darrigues, Cecile Laurent, Lorenza Mittempergher, Leonie JMJ Delahaye, Isabelle Vanden Bempt, Sara Vander Borght, Liesbet Vliegen, Petra Sintubin, Virginie Raynal, Mylene Bohec, Cécile Reyes, Audrey Rapinat, Céline Helsmoortel, Lynn Jongen, Griet Hoste, Patrick Neven, Hans Wildiers, Ann Smeets, Ines Nevelsteen, Kevin Punie, Els Van Nieuwenhuysen, Sileny Han, Anne Vincent Salomon, Enora Laas Faron, Timothé Cynober, David Gentien, Sylvain Baulande, Mireille HJ Snel, Anke T Witteveen, Sari Neijenhuis, Annuska M Glas, Fabien Reyal, and Giuseppe Floris
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Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,RC254-282 - Abstract
A previously developed and centrally validated MammaPrint® (MP) and BluePrint® (BP) targeted RNA next-generation sequencing (NGS) kit was implemented and validated in two large academic European hospitals. Additionally, breast cancer molecular subtypes by MP and BP RNA sequencing were compared with immunohistochemistry (IHC). Patients with early breast cancer diagnosed at University Hospitals Leuven and Curie Institute Paris were prospectively included between September 2017 and January 2018. Formalin-fixed paraffin-embedded tissue sections were analyzed with MP and BP NGS technology at the beta sites and with both NGS and microarray technology at Agendia. Raw NGS data generated on Illumina MiSeq instruments at the beta sites were interpreted and compared with NGS and microarray data at Agendia. MP and BP NGS molecular subtypes were compared to surrogate IHC breast cancer subtypes. Equivalence of MP and BP indices was determined by Pearson's correlation coefficient. Acceptable limits were defined a priori, based on microarray data generated at Agendia between 2012 and 2016. The concordance, the Negative Percent Agreement and the Positive Percent Agreement were calculated based on the contingency tables and had to be equal to or higher than 90%. Out of 124 included samples, 48% were MP Low and 52% High Risk with microarray. Molecular subtypes were BP luminal, HER2 or basal in 82%, 8% and 10% respectively. Concordance between MP microarray at Agendia and MP NGS at the beta sites was 91.1%. Concordance of MP High and Low Risk classification between NGS at the beta sites and NGS at Agendia was 93.9%. Concordance of MP and BP molecular subtyping using NGS at the beta sites and microarray at Agendia was 89.5%. Concordance between MP and BP NGS subtyping, and IHC was 71.8% and 76.6%, for two IHC surrogate models. The MP/BP NGS kit was successfully validated in a decentralized setting.
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- 2019
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10. Tyro3 Targeting as a Radiosensitizing Strategy in Bladder Cancer through Cell Cycle Dysregulation
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Linda Silina, Florent Dufour, Audrey Rapinat, Cécile Reyes, David Gentien, Fatlinda Maksut, François Radvanyi, Pierre Verrelle, Isabelle Bernard-Pierrot, and Frédérique Mégnin-Chanet
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bladder cancer ,TYRO3 ,radiosensitivity ,TAM receptors ,receptor tyrosine kinase ,NanoString ,Biology (General) ,QH301-705.5 ,Chemistry ,QD1-999 - Abstract
Bladder cancer is a common cancer; it is the tenth most common cancer in the world. Around one fourth of all diagnosed patients have muscle-invasive bladder cancer (MIBC), characterized by advanced tumors and which remains a lethal disease. The standard treatment for MIBC is the bladder removal by surgery. However, bladder-preserving alternatives are emerging by combining chemotherapy, radiotherapy and minimal surgery, aiming to increase the patient’s quality of life. The aim of the study was to improve these treatments by investigating a novel approach where in addition to radiotherapy, a receptor, TYRO3, a member of TAM receptor tyrosine kinase family known to be highly expressed on the bladder cancer cells and involved in the control of cell survival is targeted. For this, we evaluated the influence of TYRO3 expression levels on a colony or cell survival assays, DNA damage, γH2AX foci formation, gene expression profiling and cell cycle regulation, after radiation on different bladder cell models. We found that TYRO3 expression impacts the radiation response via the cell cycle dysregulation with noeffets on the DNA repair. Therefore, targeting TYRO3 is a promising sensitization marker that could be clinically employed in future treatments.
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- 2022
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11. Vocal Cord and Pharyngeal Weakness with Autosomal Dominant Distal Myopathy: Clinical Description and Gene Localization to 5q31
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Cecile Reyes, Lori B. Schneider, Eric Seboun, Jacques S. Beckmann, Charles E. Jackson, Guy A. Rouleau, Reine-Paule Fitoussi, Jorge A. Gutiérrez, Howard Feit, Bernard Brais, and Alice K. Silbergleit
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Adult ,Male ,Weakness ,Cord ,Distal myopathy ,Vocal Cords ,Biology ,Atrophy ,Gene mapping ,Muscular Diseases ,Genetics ,Paralysis ,medicine ,Vocal cord dysfunction ,Humans ,Genetics(clinical) ,Myopathy ,Muscle, Skeletal ,Genetics (clinical) ,Fluorescent Dyes ,Genes, Dominant ,Muscle Weakness ,Genome, Human ,Linkage ,Chromosome Mapping ,Anatomy ,Middle Aged ,medicine.disease ,Pedigree ,Haplotypes ,Chromosome 5q31 ,Distal Myopathies ,Pharyngeal Muscles ,Chromosomes, Human, Pair 5 ,Female ,DNA pooling ,medicine.symptom ,Lod Score ,Microsatellite Repeats ,Research Article - Abstract
SummaryDistal myopathy refers to a heterogeneous group of disorders in which the initial manifestations are weakness and atrophy of the hands and feet. We report a family segregating an autosomal dominant distal myopathy, with multiple affected individuals in whom vocal cord and pharyngeal weakness may accompany the distal myopathy, without involvement of the ocular muscles. To our knowledge, this pedigree displays a distinct distal myopathy with the added features of pharyngeal and vocal cord dysfunction (VCPDM) that has not been previously reported. We mapped the MPD2 gene for VCPDM to chromosome 5q within a 12-cM linkage interval between markers D5S458 and D5S1972 in a large pedigree (a maximum LOD score of 12.94 at a recombination fraction of 0 for D5S393) and combined genome screening and DNA pooling successfully adapted to fluorescent markers. This technique provides for the possibility of fully automated genome scans.
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