Article
Familial uveal melanoma and other tumors in 25 families with monoallelic germline MBD4 variants.
Journal of the National Cancer Institute - 5 Apr 2024
Villy Marie-Charlotte, Le Ven Anaïs, Le Mentec Marine, Masliah-Planchon Julien, Houy Alexandre, Bièche Ivan, Vacher Sophie, Vincent-Salomon Anne, Dubois d'Enghien Catherine, Schwartz Mathias, Piperno-Neumann Sophie, Matet Alexandre, Malaise Denis, Bubien Virginie, Lortholary Alain, Ait Omar Amal, Cavaillé Mathias, Stoppa-Lyonnet Dominique, Cassoux Nathalie, Stern Marc-Henri, Rodrigues Manuel, Golmard Lisa, Colas Chrystelle
Abstract excerpt
BACKGROUND: Monoallelic germline MBD4 pathogenic variants were recently reported to cause a predisposition to uveal melanoma, associated with a specific tumor mutational signature and good response to immunotherapy. Monoallelic tumor pathogenic variants have also been described in brain tumors, breast cancers, and myxofibrosarcomas, whereas biallelic germline MBD4 pathogenic variants have been involved in a...
Topics
- Humans
- Adult
- Female
- Genetic Predisposition to Disease
- Melanoma
- Skin Neoplasms
- Germ-Line Mutation
- Breast Neoplasms