Publications by authors named "Elodie Cosset"

Introduction: With the emergence of targeted therapies, there is a need to accurately identify more tumor biomarkers. The EXOMA trial was designed to offer tumor and germline exome sequencing (ES) to patients with solid malignant tumors and facing therapeutic failure. As hereditary cancer predispositions could be identified, with genetic counseling and health management implications, a genetic consultation was systematically established.

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Article Synopsis
  • The diagnosis of myopathies is complicated due to diverse genetic causes and overlapping symptoms, making it a challenge for clinicians.
  • A comprehensive study utilized Next-Generation Sequencing to analyze 156 patients, successfully identifying genetic causes in 74, which shows a diagnostic success rate similar to earlier studies.
  • It emphasized the importance of understanding variability in symptoms among patients, suggesting that milder forms may result from less harmful genetic variants, which is crucial for personalized medicine and better patient outcomes.
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