Maud Blanluet
A5031347432- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- Cancer-related molecular mechanisms research
- Colorectal Cancer Screening and Detection
- Epigenetics and DNA Methylation
- RNA modifications and cancer
- Cancer-related Molecular Pathways
- DNA Repair Mechanisms
- Chromatin Remodeling and Cancer
- Protein Degradation and Inhibitors
- Genomics and Phylogenetic Studies
- Renal and related cancers
- Genomics and Rare Diseases
- Birth, Development, and Health
- Hepatitis C virus research
- Blood disorders and treatments
- PI3K/AKT/mTOR signaling in cancer
- RNA regulation and disease
- Prenatal Screening and Diagnostics
- CRISPR and Genetic Engineering
- Prenatal Substance Exposure Effects
- Ocular Oncology and Treatments
- Lung Cancer Research Studies
- interferon and immune responses
- Peptidase Inhibition and Analysis
Institut Curie
2018-2024
Université d'Angers
2023-2024
Centre Hospitalier Universitaire de La Réunion
2023
Inserm
2011-2023
Centre National de la Recherche Scientifique
2023
Université Paris Sciences et Lettres
2023
Normandie Université
2017-2021
Université de Rouen Normandie
2017-2021
University Medical Center Rizk Hospital
2020
Hôpital Charles-Nicolle
2019
Background Development of tumours such as adrenocortical carcinomas (ACC), choroid plexus (CPT) or female breast cancers before age 31 multiple primary belonging to the Li-Fraumeni (LFS) spectrum is, independently familial history, highly suggestive a germline TP53 mutation. The aim this study was determine contribution de novo and mosaic mutations LFS. Methods results Among 328 unrelated patients harbouring mutation identified by Sanger sequencing and/or QMPSF, we could show that had...
Abstract Background DNA methylation‐based classification of cancer provides a comprehensive molecular approach to diagnose tumours. In fact, methylation profiling human brain tumours already profoundly impacts clinical neuro‐oncology. However, current implementation using hybridisation microarrays is time consuming and costly. We recently reported on shallow nanopore whole‐genome sequencing for rapid cost‐effective generation genome‐wide 5‐methylcytosine profiles as input supervised...
Abstract DNA methylation-based classification of cancer provides a comprehensive molecular approach to diagnose tumors. In fact, methylation profiling human brain tumors already profoundly impacts clinical neuro-oncology. However, current implementations using hybridization microarrays are time-consuming and costly. We recently reported on shallow nanopore whole-genome sequencing for rapid cost-effective generation genome-wide 5-methylcytosine profiles as input supervised random forests...
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...
is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with
Cowden syndrome (CS) is an autosomal dominant mendelian disease related to germline pathogenic variants affecting the PTEN-gene. CS characterized by macrocephaly, mucocutaneous lesions, and increased risk of breast thyroid cancers. Rare ovarian cancer cases (mostly embryonic tumors) associated with PTEN have been described in literature, but no current guidelines are available for management. We report on a woman diagnosed clear cell carcinoma (OCCC) at 28 years age. The patient displayed...
Karyomegalic interstitial nephritis (KMIN; OMIM 814617, ORPHA 401996) is a very rare autosomal recessive inherited systemic disease caused by germline pathogenic variants in the FAN1 gene, which encodes FANCD2/FANCI-associated nuclease 1.1 Kidneys are involved most if not all patients with KMIN, characteristics of chronic tubulointerstitial nephropathy at presentation. Kidney pathology mainly shows infiltration inflammatory cells and fibrosis, tubular atrophy, membrane degeneration, unusual...
Fanconi anemia (FA) is the most common inherited bone marrow failure syndrome and presents with cytopenias, characteristic physical features, increased chromosomal breaks, a higher risk of malignancy. Genetic features this disease vary among different ethnic groups. We aimed to identify incidence, outcome, overall condition, genetic patients affected FA in Lebanon optimize management, genes, describe new mutations, offer prenatal diagnosis counseling families. Over period 17 years, 40 were...
Background: Fetal Alcohol Spectrum Disorders (FASD) are the most common cause of neurocognitive impairment and social inadaptation, affecting 1 birth in 100. Despite existence precise diagnostic criteria, diagnosis remains difficult, often confounded with other genetic syndromes or neurodevelopmental disorders. Since 2016, Reunion Island has been a pilot region for identification, diagnosis, care FASD France. Objective: To evaluate prevalence types Copy Number Variations (CNV) patients....
We present the phenotype of an infant with largest ATN1 CAG expansion reported to date (98 repeats). He presented at 4 months developmental delay, poor eye contact, acquired microcephaly, failure thrive. progressively developed dystonia-parkinsonism paroxysmal oromandibular and limbs dyskinesia fatal outcome 17 months. Cerebral MRI disclosed globus pallidus T2-WI hyperintensities brain atrophy. Molecular analysis was performed post-mortem following diagnosis dentatorubral-pallidoluysian...
Balanced translocations are associated with a risk of transmission unbalanced chromosomal rearrangements in the offspring. Such inherited abnormalities typically non-mosaic as they present germline. We report recurrence two siblings mosaicism for rearrangement from their asymptomatic father who carried balanced t(2;11)(q35;q25) translocation. Both exhibited similar phenotype including intellectual disability, dysmorphic features, kyphoscoliosis, and cervical spinal stenosis. Karyotyping,...
Abstract Medulloblastoma (MB) can be classified into four molecular subgroups (WNT group, SHH group 3, and 4). The gold standard of assignment subgroup through DNA methylation profiling uses Illumina EPIC array. However, this tool has some limitation in terms cost timing, order to get the results soon enough for clinical use. We present an alternative assay based on nanopore sequencing efficient rapid, cheaper, reliable subgrouping MB samples. Low-depth whole genome with long-read...