A5044703228- PARP inhibition in cancer therapy
- DNA Repair Mechanisms
- Cancer Genomics and Diagnostics
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- PI3K/AKT/mTOR signaling in cancer
- Colorectal Cancer Screening and Detection
- Polyamine Metabolism and Applications
- Genetic factors in colorectal cancer
- Fungal Plant Pathogen Control
- Cholangiocarcinoma and Gallbladder Cancer Studies
Institut Bergonié
2024
McGill University
2021
Centre Hospitalier Universitaire de Bordeaux
2020
The development of whole-exome sequencing (WES) and whole-genome (WGS) for clinical purposes now allows the identification multiple pathogenic variants in patients with a rare disease. This occurs even when single causative gene was initially suspected. We report case an 8-year-old patient global developmental delays dysmorphic features, possibly variant three distinct genes.Trio-based exome performed by IntegraGen SA (Evry, France), on Illumina HiSeq4000 (Illumina, San Diego, CA, USA)....
Abstract It was hypothesized that variants in underexplored homologous recombination repair (HR) genes could explain unsolved multiple-case breast cancer (BC) families. We investigated HR deficiency (HRD)-associated mutational signatures and second hits tumor DNA from familial BC cases. No candidates were associated with HRD 38 probands previously tested negative gene panels. conclude it is unlikely unknown HRD-associated a large fraction of BC.
Colorectal neoplasia is one of the most common tumors affecting Western populations.
Background PTEN hamartoma tumour syndrome (PHTS) encompasses distinct syndromes, including Cowden resulting from pathogenic variants. Missense variants account for 30% of PHTS cases, but their classification remains challenging. To address these difficulties, guidelines were published by the Clinical Genome Resource Variant Curation Expert Panel. Methods Between 2010 and 2020, Bergonie Institute reference laboratory identified 76 different non-truncating in 166 patients, 17 which have not...