A5007213313- Genetic factors in colorectal cancer
- Cancer Genomics and Diagnostics
- Pancreatic and Hepatic Oncology Research
- Colorectal and Anal Carcinomas
- DNA Repair Mechanisms
- RNA modifications and cancer
- Adrenal and Paraganglionic Tumors
- Cancer, Hypoxia, and Metabolism
- Cancer Immunotherapy and Biomarkers
- Epigenetics and DNA Methylation
- Colorectal Cancer Treatments and Studies
- Hormonal Regulation and Hypertension
- Cancer-related Molecular Pathways
- Lung Cancer Treatments and Mutations
- Sarcoma Diagnosis and Treatment
- Inflammatory mediators and NSAID effects
- Estrogen and related hormone effects
- Eicosanoids and Hypertension Pharmacology
- Cardiac tumors and thrombi
- Chronic Lymphocytic Leukemia Research
- Neurofibromatosis and Schwannoma Cases
- Bacteriophages and microbial interactions
- Immunodeficiency and Autoimmune Disorders
- Chromatin Remodeling and Cancer
- Inflammatory Bowel Disease
Hôpital Cochin
2013-2025
Assistance Publique – Hôpitaux de Paris
2012-2025
Institut Cochin
2009-2025
Université Paris Cité
2009-2025
Inserm
2009-2025
Centre National de la Recherche Scientifique
2022-2025
Laboratoire d’immunologie intégrative du cancer
2022
Hôpital Lyon Sud
2007
Institut Pasteur
1998-2004
DNA methylation is a mechanism for gene expression silencing in cancer. Limited information available adrenocortical tumors. Abnormal at the IGF2/H19 locus common carcinomas. Our aim was to characterize carcinomas whole-genome scale and assess its clinical significance impact on expression.Methylation patterns of CpG islands promoter regions 51 84 adenomas were studied by Infinium HumanMethylation27 Beadchip (Illumina, San Diego, CA). Methylation 33 genes methylation-specific multiplex...
Abstract Missense mutations in the polymerase epsilon (POLE) gene have been reported to generate proofreading defects resulting an ultramutated genome and sensitize tumors checkpoint blockade immunotherapy. However, many POLE-mutated do not respond such treatment. To better understand link between POLE mutation variants response immunotherapy, we prospectively assessed efficacy of nivolumab a multicenter clinical trial patients bearing advanced mismatch repair–proficient solid tumors. We...
The risk stratification of adrenocortical carcinoma (ACC) based on tumor proliferation index and stage is limited. Adjuvant therapy after surgery recommended for most patients. Pan-genomic studies have identified distinct molecular groups closely associated with outcome.
Adrenocortical cancer (ACC) is an aggressive tumor with a heterogeneous outcome. Prognostic stratification difficult even based on stage and Ki67. Recently integrated genomics studies have demonstrated that CpG islands hypermethylation correlated poor survival. The goal of this study was to confirm the prognostic value methylation independent cohort. Methylation measured by methylation-specific multiplex ligation–dependent probe amplification (MS-MLPA). MS-MLPA performed in training cohort...
A case series evaluating efficacy and safety of immune checkpoint blockade in Li-Fraumeni syndrome
β1 integrins are anchored on the basal membrane of enterocytes, but little is known about their localization in M cells, which main entry route into intestinal mucosa for many bacterial pathogens. In particular, it has been suggested that adhesion enteropathogenic Yersinia to cells mediated by interaction protein invasin and apical integrins. Using a novel vitro model we demonstrate an augmented basolateral targeting associated with increased total α chain synthesis. The α3 α6 subunits were...
The MSH3 gene is part of the DNA mismatch repair system, but has never been shown to be involved in Lynch syndrome. A first report four patients from two families, bearing biallelic germline variants, with a phenotype attenuated colorectal adenomatous polyposis raised question its involvement hereditary cancer predisposition. patients' tumours exhibited elevated microsatellite alterations at selected tetranucleotide repeats (EMAST), hallmark deficiency.We five new unrelated MSH3-associated...
Only a few patients with germline AXIN2 variants and colorectal adenomatous polyposis or cancer have been described, raising questions about the actual contribution of this gene to (CRC) susceptibility. To assess clinical relevance for testing in suspected genetic predisposition CRC, we collected molecular data from French Oncogenetics laboratories analyzing context. Between 2004 June 2020, 10 different pathogenic/likely pathogenic were identified 11 unrelated individuals. Eight consecutive...
Background Point mutations of the PRKAR1A gene are a genetic cause Carney complex (CNC) and primary pigmented nodular adrenocortical disease (PPNAD), but in 30% patients no mutation is detected. Objective Set up routine-based technique for systematic detection large deletions or duplications this functionally characterize these mutations. Methods Multiplex ligation-dependent probe amplification (MLPA) 12 exons was validated used to detect rearrangements 13 typical CNC 39 confirmed putative...
Abstract Biallelic pathogenic variants in the NTHL1 (Nth like DNA glycosylase 1) gene cause a recently identified autosomal recessive hereditary cancer syndrome predisposing to adenomatous polyposis and colorectal cancer. Half of biallelic carriers also display multiple colonic or extra‐colonic primary tumors, mainly breast, endometrium, urothelium, brain tumors. Published data designate as an important contributor cancers but underline scarcity available informations. Thanks French...
Abstract Background Constitutional mismatch repair deficiency (CMMRD) is a cancer predisposition due to biallelic mutations in one of the (MMR) genes associated with early onset cancers, especially high-grade gliomas. Our aim was decipher molecular specificities these Methods Clinical, histopathological, and whole exome sequencing data were analyzed 12 children genetically proven CMMRD glioma. Results PDL1 expression present immunohistochemistry 50% samples. In 9 patients, glioma harbored an...
Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | 1479-6848 (online)