Publications by authors named "S Nambot"
Article Synopsis
- Sarcomas are not typically associated with Lynch Syndrome (LS), but recent literature suggests a connection, prompting a national study to investigate their characteristics in LS patients.
- The SarcLynch study included 81 patients, finding that 83% had soft-tissue sarcomas, particularly pleomorphic variants like undifferentiated pleomorphic sarcoma and pleomorphic rhabdomyosarcoma, with 40% having sarcoma as their first cancer event.
- Results showed a high prevalence of mismatch repair deficiency and promising responses to immune checkpoint inhibitors, suggesting the need for screening and potential immunotherapy for these sarcomas.
Rationale & Objective: Monoallelic predicted Loss-of-Function (pLoF) variants in IFT140 have recently been associated with an autosomal dominant polycystic kidney disease (ADPKD)-like phenotype. This study sought to enhance the characterization of this phenotype.
Study Design: Case series.
Article Synopsis
- The OlympiA study approved olaparib as an adjuvant treatment for high-risk early breast cancer patients with BRCA1/2 mutations, but the actual percentage of patients meeting these high-risk criteria in practical settings is unknown.
- The study analyzed data from the Côte d'Or Breast and Gynecological Cancer Registry, examining the long-term prognosis of patients treated for early breast cancer between 2005 and 2015, finding only 1.8% had BRCA mutations and 14.2% were classified as high risk.
- Results showed high-risk patients had significantly worse 10-year overall survival rates compared to other patients, highlighting the need for careful patient identification to ensure those who could benefit from olaparib receive appropriate care
Article Synopsis
- Prenatal exome sequencing (pES) is increasingly used to diagnose fetuses with structural defects, identifying additional conditions in about 30% who have normal chromosomal microarray analysis (CMA).
- A study categorized prenatal phenotypes for fetuses with pathogenic variants, finding typical features in 67.9% of cases, while uncommon or unreported features complicated some interpretations.
- Recommendations include standardizing prenatal feature descriptions, enhancing follow-up practices, and collecting larger datasets to improve pES analysis.
Article Synopsis
- SCN5A gene variants are linked to various cardiac electrical disorders, but they can also result in complex phenotypes like overlap syndromes, which haven't been thoroughly studied.
- The study analyzed DNA from over 13,500 patients with a focus on those carrying pathogenic SCN5A variants, finding that most were tied to well-defined conditions like Brugada syndrome and long QT syndrome.
- About 19% of the variants were associated with complex phenotypes, and only a small number (8 out of 9,960 patients) showed a potential link to dilated cardiomyopathies (DCM), suggesting it's a rare association.