Publications by authors named "O Cabaret"
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.
Introduction: Microsatellite instability (MSI) is a genetic marker that is useful in the detection and treatment of Lynch syndrome (Sd). Although conventional techniques such as immunohistochemistry (IHC) and polymerase chain reaction (PCR) are the standards for MSI detection, the advent of next-generation sequencing (NGS) has offered new possibilities, especially with circulating DNA.
Case Report: We present the case of a 26-year-old patient with Lynch Sd and a -mutated metastatic colon cancer.
Differential diagnosis between and ) is crucial as treatment and surveillance differ. We report the case of a girl with a clinical diagnosis of sporadic NF1 who developed a glioblastoma. Immunohistochemistry for MMR proteins identified PMS2 loss in tumour and normal cells and WES showed the tumour had an ultra-hypermutated phenotype, supporting the diagnosis of CMMRD.
View Article and Find Full Text PDFArticle Synopsis
- Somatic and germline mutations are key biomarkers for predicting how effective PARP inhibitors will be for treating high-grade serous ovarian cancer (HGSOC).
- In a study of 237 HGSOC patients, 16.2% showed pathogenic variants, and 22.1% of tumor samples had identified deleterious variants, indicating high levels of genetic variability.
- The findings highlight that combining mutation testing improves detection and understanding of low-cellularity samples and potential loss of heterozygosity, which plays a crucial role in tumor development.
Germline DNA alterations affecting homologous recombination pathway genes have been associated with pancreatic cancer (PC) risk. BRCA2 is the most studied gene and affects the management of PC patients and their families. Even though recent reports have suggested a similar role of germline ATM pathogenic variants (PV) in familial PC, there is still a disagreement between experts on how it could affect patient management given the lack of proper PC risk estimates.
View Article and Find Full Text PDF