Publications by authors named "L Brugieres"
Article Synopsis
- Next-generation sequencing (NGS) has helped uncover genetic causes of primary ovarian insufficiency (POI), while the reasons for diminished ovarian reserve (DOR) are less understood.
- A 14-year-old patient with isolated DOR was found to have two frameshift mutations in the BRCA1 gene, but surprisingly showed no signs of Fanconi anemia (FA).
- Despite the absence of FA symptoms, the patient's cells exhibited high chromosomal fragility, and studies indicated a shortened version of the BRCA1 protein was produced, suggesting that BRCA1 is crucial for ovarian health and functioning.
Article Synopsis
- The study investigates the link between pregnancy-related factors and the risk of childhood lymphoma, focusing on non-Hodgkin lymphoma (NHL) and Hodgkin lymphoma (HL) in a large French case-control analysis.
- Results indicate that maternal coffee and alcohol consumption during pregnancy, as well as paternal smoking, are associated with an increased risk of childhood NHL, with a dose-response relation seen in coffee intake.
- The research suggests that understanding these associations can improve knowledge of childhood lymphoma aetiology, although further studies are needed to confirm these findings.
Objective: To describe treatments and outcomes of French children treated for relapsed/refractory anaplastic lymphoma kinase-positive anaplastic large cell lymphoma (ALK+ ALCL).
Methods: We conducted the analysis of a series of 75 French children treated for a first relapsed/refractory ALK+ ALCL between 1999 and 2017.
Results: The median time to first relapse was 8.
Article Synopsis
- Constitutional mismatch repair deficiency (CMMRD) is a rare genetic condition that significantly increases the lifetime risk of various cancers and has distinct non-cancer features, leading to evolving diagnosis and surveillance practices.* -
- A comprehensive set of 82 recommendations for CMMRD diagnosis, surveillance, and clinical management has been developed by experts to standardize care across Europe, incorporating new research findings and patient input.* -
- These recommendations provide detailed guidelines regarding testing criteria, age of initiation, frequency of surveillance, cancer treatment, and quality of life considerations—allowing for personalized adjustments based on individual patient needs.*
Purpose: Describe clinical characteristics and outcome of Li-Fraumeni syndrome (LFS)-associated osteosarcomas.
Methods: TP53 germline pathogenic/likely pathogenic variant carriers diagnosed with osteosarcoma in France between 1980 and 2019 were identified via the French Li-Fraumeni database at Rouen University Hospital. Sixty-five osteosarcomas in 52 patients with available clinical and histological data were included.