Article
A de novo germline pathogenic BRCA1 variant identified following an osteosarcoma pangenomic molecular analysis.
Familial cancer - 1 Nov 2024
Mouren Adrien, Chansavang Albain, Hamzaoui Nadim, Srikaran Arunya, Laurent-Puig Pierre, Marisa Laetitia, De Percin Sixtine, Lupo Audrey, Larousserie Frédérique, Blons Hélène, L'Haridon Anais, Burnichon Nelly, Pasmant Eric, Tlemsani Camille
Abstract excerpt
De novo germline pathogenic variants (gPV) of the BReast CAncer 1 (BRCA1) gene are very rare. Only a few have been described up to date, usually in patients with a history of ovarian or breast cancer. Here, we report the first case of an incidental de novo BRCA1 germline pathogenic variant which was identified within the framework of the Plan France Médecine Génomique (PFMG) 2025 French national tumor sequencing...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.