Publications by authors named "Axelle Riviere"

Introduction: In France, few centres per region offer genetics consultations. Consequently, each centre covers a large area, often requiring patients to take a day off to travel long distances. In certain situations, genetic counselling in particular, a physical exam is not required.

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Background: It is unclear whether delays in care affect prognosis of patients with lung cancer. The primary objective of this study was to describe the care pathway of patients diagnosed with lung cancer in a French region. Secondary objectives were to identify markers associated with 1) time from imaging to treatment and 2) with 1-year survival.

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Article Synopsis
  • Primary Ovarian Insufficiency (POI) affects 1-3.7% of women under 40, leading to issues like infertility and reduced lifespan, with many causes remaining unidentified; recent studies are exploring genetic links to POI through a large cohort of patients.* -
  • The research included 375 patients and uncovered a 29.3% success rate for clinical genetic diagnosis of POI, discovering new pathogenic genes and pathways previously unlinked to POI, while confirming the role of several known genes associated with cancer susceptibility and other genetic disorders.* -
  • This genetic understanding enables personalized medicine approaches, which aim to prevent or treat related health issues, predict ovarian reserve, and identify candidates for innovative therapies like in vitro
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