A5038933857- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- Pharmacogenetics and Drug Metabolism
- Colorectal Cancer Screening and Detection
- Epigenetics and DNA Methylation
- RNA and protein synthesis mechanisms
- Genomic variations and chromosomal abnormalities
- Neuroendocrine Tumor Research Advances
- Neuroblastoma Research and Treatments
- Genomics and Phylogenetic Studies
- Glioma Diagnosis and Treatment
- Multiple and Secondary Primary Cancers
- Tracheal and airway disorders
- Gene expression and cancer classification
- Sarcoma Diagnosis and Treatment
- Cystic Fibrosis Research Advances
- Lung Cancer Research Studies
- Radiomics and Machine Learning in Medical Imaging
- Colorectal Cancer Treatments and Studies
- Glutathione Transferases and Polymorphisms
- Renal cell carcinoma treatment
- Wnt/β-catenin signaling in development and cancer
- Drug Transport and Resistance Mechanisms
- RNA modifications and cancer
- Cancer-related gene regulation
Université de Rouen Normandie
2022-2025
Université du Québec à Montréal
2024
Centre Intégré Universitaire de Santé et de Services Sociaux du Centre-Sud-de-l'Île-de-Montréal
2024
Centre intégré universitaire de santé et de services sociaux du Nord-de-l’Île-de-Montréal
2024
Centre Hospitalier Universitaire de Rouen
2024
Centre National des Soins Palliatifs et de la Fin de Vie
2024
Inserm
2008-2022
Université de Lille
2015-2022
Centre National de la Recherche Scientifique
2018-2022
Centre Hospitalier Universitaire de Lille
2010-2022
Numerous lung cell lines are currently used as in vitro models for pharmacological and toxicological studies. However, no exhaustive report about the metabolic capacities of these comparison with those tissues is available. In present study, we a high-throughput quantitative real-time reverse transcription-polymerase chain reaction strategy to characterize expression profiles 380 genes encoding proteins involved metabolism disposition xenobiotics 10 commonly (A549, H292, H358, H460, H727,...
Actionable fibroblast growth factor receptor 3 (FGFR3)-transforming acidic coiled-coil protein fusions (F3T3) are found in approximately 3% of gliomas, but their characteristics and prognostic significance still poorly defined. Our goal was to characterize the clinical, radiological, molecular profile F3T3 positive diffuse gliomas.We screened fusion by real-time (RT)-PCR FGFR3 immunohistochemistry a large series characterized for main genetic alterations, histology, clinical evolution. We...
Microsatellite instability (MSI) is a molecular phenotype due to defective DNA mismatch repair (MMR) system. It used predict outcome of colorectal tumours and screen for Lynch syndrome (LS). A pentaplex panel composed five mononucleotide markers has been largely recommended determination the MSI status. However, its sensitivity may be taken in default occasional situations. The aim study was optimise this detection MSI. We developed an assay allowing co-amplification six repeat (BAT25,...
The serrated neoplasia pathway accounts for 20-30% of colorectal cancers (CRC), which are characterized by extensive methylation (CpG island phenotype, CIMP), frequent BRAF mutation and high microsatellite instability (MSI). We recently identified MUC5AC mucin gene hypomethylation as a specific marker MSI CRC. early identification preneoplastic lesions among polyps is currently challenging. Here, we performed detailed pathological molecular analysis large series evaluated the usefulness...
The high frequency of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene mutation p.Arg117His in patients with congenital bilateral absence vas deferens (CBAVD) and newborns screened for CF has created a dilemma.Phenotypic genotypic data were retrospectively collected 179 non-newborn French individuals carrying second CFTR referred symptoms or family history, by all molecular genetics laboratories, referring physicians, care centres infertility clinics.97% had intronic...
Identifying among nephroblastoma those with a high propensity for distant metastases using cell cycle markers: cyclin E as regulator of progression through the and Ki-67 tumor proliferation marker, since both are often deregulated in many human malignancies.A staining index (SI) was obtained by immunohistochemistry anti-cyclin anti-Ki-67 antibodies paraffin sections 54 postchemotherapy including 42 without metastasis 12 metastases. Median SI were 46% 33% blastemal cells, 30% 10% stromal 37%...
Lynch syndrome (LS) is the most frequent cause of hereditary colorectal cancer. A subset patients with a history LS shows no causal germline pathogenic alteration and are identified as having Lynch-like (LLS). Alu retrotransposons abundant mobile DNA sequences in human genome have been associated numerous cancers by either disrupting coding regions or altering epigenetic modifications splicing signals. We report family first classified LLS Sanger sequencing analysis. Next-generation (NGS)...
Background Heterozygous germline PMS2 variants are responsible for about 5% of Lynch syndrome (LS) but their prevalence is most likely underestimated because complicated routine screening caused by highly homologous pseudogenes. Consequently, there limited knowledge on the implication gene in LS. Methods We report 200 heterozygous identified 195 French patients, including 112 unique classified as class-3/4/5. Results Genomic rearrangements account 18% alterations. The c.137G>T variant was...
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...
Inosine 5'-monophosphate dehydrogenase (IMPDH), which catalyzes a key step in the de novo biosynthesis of guanine nucleotide, is mediated by two highly conserved isoforms, IMPDH1 and IMPDH2. In this study, IMPDH2 genetic polymorphism was investigated 96 individuals Caucasian origin. Four single-nucleotide polymorphisms were identified, comprising one previously described single base-pair substitution close vicinity consensus donor splice site intron 7 (IVS7+10T>C), three novel polymorphisms,...
Since human cytochrome P450 2F1 (CYP2F1) is predominantly expressed in lung tissue and involved the metabolism of various pneumotoxicants with potential carcinogenic effects, variations nucleotidic sequence its gene may contribute to interindividual interethnic differences susceptibility tumorigenesis. The aim current study was compare frequency a previously reported frameshift mutation, namely c.14_15insC, responsible for synthesis severely truncated protein, between several populations...
Objective We previously described a family in which predisposition to pheochromocytoma (PCC) segregates with germline heterozygous KIF1B nucleotide variant (c.4442G>A, p.Ser1481Asn) three generations. During the clinical follow-up, one proband’s brother, negative for variant, developed bilateral PCC at 31 years. This prompted us reconsider genetic analysis. Design and methods Germline DNA was analyzed by next-generation sequencing (NGS) using multi-gene panel plus MLPA or whole exome...