A5068005590- Cancer Genomics and Diagnostics
- Neuroblastoma Research and Treatments
- Genetic factors in colorectal cancer
- Sarcoma Diagnosis and Treatment
- Cancer-related Molecular Pathways
- Lung Cancer Treatments and Mutations
- Cancer, Hypoxia, and Metabolism
- Lymphoma Diagnosis and Treatment
- Retinal Development and Disorders
- Advanced biosensing and bioanalysis techniques
- Cancer Cells and Metastasis
- Genomic variations and chromosomal abnormalities
- RNA modifications and cancer
- RNA regulation and disease
- CRISPR and Genetic Engineering
- Colorectal Cancer Treatments and Studies
- Pancreatic and Hepatic Oncology Research
- Hepatocellular Carcinoma Treatment and Prognosis
- Fibroblast Growth Factor Research
- Lung Cancer Research Studies
- Genomics and Phylogenetic Studies
- Retinal Diseases and Treatments
- Cardiac tumors and thrombi
- Congenital Diaphragmatic Hernia Studies
- Cancer therapeutics and mechanisms
Institut Curie
2012-2017
Université Paris Sciences et Lettres
2014
Inserm
2014
École Nationale Supérieure des Mines de Paris
2014
Institute of Pathology and Genetics
2014
Centre National de la Recherche Scientifique
2014
IntegraGen (France)
2012-2014
Université Paris Cité
2014
McGill University Health Centre
2010-2011
McGill University
2010
Ewing sarcoma is a primary bone tumor initiated by EWSR1-ETS gene fusions. To identify secondary genetic lesions that contribute to progression, we performed whole-genome sequencing of 112 samples and matched germline DNA. Overall, tumors had relatively few single-nucleotide variants, indels, structural copy-number alterations. Apart from whole chromosome arm changes, the most common somatic mutations were detected in STAG2 (17%), CDKN2A (12%), TP53 (7%), EZH2, BCOR, ZMYM3 (2.7% each)....
Nontoxic multinodular goiter (MNG) is frequently observed in the general population, but little known about underlying genetic susceptibility to this disease. Familial cases of MNG have been reported, and published reports describe 5 families that also contain at least 1 individual with a Sertoli-Leydig cell tumor ovary (SLCT). Germline mutations DICER1, gene codes for an RNase III endoribonuclease, identified affected by pleuropulmonary blastoma (PPB), some whom include gonadal tumors such...
Purpose In neuroblastoma, the ALK receptor tyrosine kinase is activated by point mutations. We investigated potential role of mutations in neuroblastoma clonal evolution. Methods analyzed 54 paired diagnosis–relapse samples using Sanger sequencing. When an mutation was observed one sample, a minor mutated component other sample searched for more than 100,000× deep sequencing relevant hotspot, with sensitivity 0.17%. Results All nine ALK-mutated cases at diagnosis demonstrated same relapse,...
Circulating tumor DNA (ctDNA) is a new circulating biomarker which might be used as prognostic in way similar to cells (CTCs). Here, we the high prevalence of TP53 mutations triple negative breast cancer (TNBC) compare ctDNA and CTC detection rates value metastatic TNBC patients. Forty patients were enrolled before starting line treatment. characterized archived tissues plasma using two next generation sequencing (NGS) platforms parallel. Archived tissue was sequenced successfully for 31/40...
Abstract Motivation: Because of its low cost, amplicon sequencing, also known as ultra-deep targeted is now becoming widely used in oncology for detection actionable mutations, i.e. mutations influencing cell sensitivity to therapies. Amplicon sequencing based on the polymerase chain reaction amplification regions interest, a process that considerably distorts information copy numbers initially present tumor DNA. Therefore, additional experiments such single nucleotide polymorphism (SNP) or...
Multilocular cystic nephroma (CN) is a benign kidney tumour and part of family neoplasms including partially differentiated nephroblastoma Wilms (WT). CN rarely familial or bilateral, but it occurs in about 10% families where pleuropulmonary blastoma (PPB) present. Recently, germline mutations DICER1 were found PPB.To search for two with CN; PPB was present one family. Additionally, to test DNA from 50 children sporadic WT mutations.Both multiple have leading premature stop codons, predicted...
Dominant mutations in the gene encoding mRNA splicing factor PRPF31 cause retinitis pigmentosa, a hereditary form of retinal degeneration. Most these are characterized by DNA changes that lead to premature termination codons. We investigated 6 different mutations, represented single-base substitutions or microdeletions, cell lines derived from 9 patients with dominant pigmentosa. Five codons, and 1 leads skipping exon 2. Allele-specific measurement transcripts revealed strong reduction...
A patient received a diagnosis of adenocarcinoma the ampulla Vater at 34 years age. Two decades later, adenomatous polyps were found, followed by multiple primary invasive adenocarcinomas both colon and stomach. Premature chromatid separation mosaic variegated aneuploidy, combined with structural chromosomal abnormalities, detected in his cells. We identified germline homozygous intronic mutation, c.2386-11A→G, spindle-assembly checkpoint gene BUB1B, which creates de novo splice site that is...
Adult stem cells may acquire mutations that modify cellular behavior, leading to functional declines in homeostasis or providing a competitive advantage resulting premalignancy. However, the frequency, phenotypic impact, and mechanisms underlying spontaneous mutagenesis during aging are unclear. Here, we report two of genome instability adult Drosophila intestinal (ISCs) cause alterations intestine. First, found frequent loss heterozygosity arising from mitotic homologous recombination ISCs...
The SHIVA trial is a multicentric randomised proof-of-concept phase II comparing molecularly targeted therapy based on tumour molecular profiling vs conventional in patients with any type of refractory cancer. Results the feasibility study first 100 enrolled are presented. Adult metastatic cancer who failed standard were eligible for study. profile was performed mandatory biopsy, and included mutations gene copy number alteration analyses using high-throughput technologies, as well...
Abstract Purpose: In neuroblastoma, activating ALK receptor tyrosine kinase point mutations play a major role in oncogenesis. We explored the potential occurrence of at subclonal level using targeted deep sequencing. Experimental Design: clinically representative series 276 diagnostic neuroblastoma samples, exons 23 and 25 gene, containing F1174 R1275 mutation hotspots, respectively, were resequenced with an extremely high depth coverage. Results: At hotspot (exon 23), observed 15 277...
Dominant mutations in the mRNA splicing factor gene PRPF31 (RP11) cause retinitis pigmentosa with reduced penetrance. We studied expression of RP11 lymphoblast cell lines from 10 patients, including three who were clinically asymptomatic, six distinct mutations. Five characterized and all five created premature nonsense codons or eliminated normal initiation codon. Semiquantitative RT-PCR indicated that an average only 17% was derived mutant allele, likely because transcripts degraded by...
We report the study of a large American family displaying autosomal dominant retinitis pigmentosa with reduced penetrance, form hereditary retinal degeneration. Although inheritance pattern and previous linkage mapping pointed to involvement PRPF31 gene, extensive screening all its exons their boundaries failed in past reveal any mutation. In this work, we sequenced entire genomic region by both classical Sanger method ultrahigh throughput (UHT) sequencing. Among many variants identified,...
Dominant mutations in the gene encoding ubiquitously-expressed splicing factor PRPF31 cause retinitis pigmentosa, a form of hereditary retinal degeneration, with reduced penetrance. We and others have previously shown that penetrance is tightly correlated expression, as lymphoblastoid cell lines (LCLs) from affected patients produce less abundant transcripts than LCLs their unaffected relatives carrying same mutation. investigated genetic elements determining variable expression PRPF31,...
Neuroblastoma is a pediatric cancer of the peripheral nervous system in which structural chromosome aberrations are emblematic aggressive tumors. In this study, we performed an in-depth analysis somatic rearrangements two neuroblastoma cell lines and primary tumors using paired-end sequencing mate-pair libraries RNA-seq. The presented with typical genetic alterations belong to group exhibiting profile chromothripsis. Inter intra-chromosomal were identified four samples, allowing particular...
// Wulfran Cacheux 1, 2, *, # , Virginie Dangles-Marie 3, 4, Etienne Rouleau * Julien Lazartigues Elodie Girard 5, Adrien Briaux Pascale Mariani 6 Sophie Richon 7 Vacher 2 Bruno Buecher 8 Marion Richard-Molard 9 Emmanuelle Jeannot Nicolas Servant 3 Fereshteh Farkhondeh 10 Odette Thomas Rio-Frio 11 Sergio Roman-Roman Emmanuel Mitry 1 Ivan Bieche 12, and Astrid Lièvre 13, 14, Département d'oncologie médicale, Ensemble Hospitalier de l'Institut Curie, Hôpital René Huguenin, Saint-Cloud, 92210...
Autism spectrum disorders (ASD) are highly heritable complex neurodevelopmental with a 4:1 male: female ratio. Common genetic variation could explain 40-60% of the variance in liability to autism. Because their small effect, genome-wide association studies (GWASs) have only identified number individual single-nucleotide polymorphisms (SNPs). To increase power GWASs disorders, methods like convergent functional genomics (CFG) emerged extract true signals from noise and identify prioritize...