Publications by authors named "N Hamzaoui"
Article Synopsis
- Constitutional mismatch repair deficiency (CMMRD) leads to a significant cancer risk, primarily resulting in high-grade gliomas in children due to mutations in mismatch repair genes.
- Analysis of clinical and genetic data from 12 affected children revealed that 50% of their glioma samples expressed PDL1 and exhibited an ultra-hypermutated phenotype, with numerous mutations and specific driver mutations identified.
- The research indicates that CMMRD gliomas have distinct oncogenic properties, differing from typical glioblastomas, suggesting potential for targeted therapies, particularly those targeting MAPK pathways and PD1 inhibitors.
Article Synopsis
- The study examines the effectiveness and safety of immune checkpoint inhibitors in patients with Li-Fraumeni syndrome, a condition that increases cancer risk.
- Researchers conducted a series of cases to assess patient responses to this type of cancer treatment, gathering data on outcomes and side effects.
- Findings suggest that immune checkpoint blockade may offer potential benefits in treating cancers in individuals with Li-Fraumeni syndrome, but further research is needed to confirm these results.
De novo germline pathogenic variants (gPV) of the BReast CAncer 1 (BRCA1) gene are very rare. Only a few have been described up to date, usually in patients with a history of ovarian or breast cancer. Here, we report the first case of an incidental de novo BRCA1 germline pathogenic variant which was identified within the framework of the Plan France Médecine Génomique (PFMG) 2025 French national tumor sequencing program.
View Article and Find Full Text PDFBackground: The gene is part of the DNA mismatch repair system, but has never been shown to be involved in Lynch syndrome. A first report of four patients from two families, bearing biallelic germline variants, with a phenotype of attenuated colorectal adenomatous polyposis raised the question of its involvement in hereditary cancer predisposition. The patients' tumours exhibited elevated microsatellite alterations at selected tetranucleotide repeats (EMAST), a hallmark of deficiency.
View Article and Find Full Text PDFSome patients with Lynch syndrome (LS) have extreme phenotypes, i.e. cancer before the recommended screening age, or cancer for which there are no screening guidelines.
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