Publications by authors named "Pierre Fermey"

Article Synopsis
  • Development of certain tumors before age 31 or multiple cancers may indicate germline mutations, which are significant in the context of Li-Fraumeni syndrome (LFS).
  • This study analyzed 328 patients with germline mutations, finding that 14% of cases involved de novo mutations, with some occurring during embryonic development.
  • The researchers also discovered mosaic mutations in both affected individuals and their unaffected relatives, emphasizing the need for medical labs to effectively identify these mutations during testing.
View Article and Find Full Text PDF
Article Synopsis
  • * A family study revealed a specific stop mutation in the EXT2 gene associated with isolated chondrosarcomas, primarily in the ribs, regardless of traditional signs of multiple osteochondromas on imaging.
  • * This finding suggests that EXT2 mutations should be considered when evaluating patients for inherited chondrosarcoma risk, even if they don't show typical symptoms of multiple osteochondromas.
View Article and Find Full Text PDF
Article Synopsis
  • The study aimed to enhance understanding of Li-Fraumeni syndrome (LFS), a genetic condition linked to a high risk of different cancers, by examining 1,730 patients and their TP53 mutations.
  • In their findings, 322 mutation carriers developed 552 tumors, with many experiencing multiple cancers, and early onset of tumors was common, particularly in childhood, where certain types like osteosarcomas and adrenocortical carcinomas were prevalent.
  • The study concludes that the severity and type of cancer associated with TP53 mutations vary, suggesting a need for personalized treatment strategies based on the specific mutation type.
View Article and Find Full Text PDF