Article
Germline MBD4 Mutations and Predisposition to Uveal Melanoma.
Journal of the National Cancer Institute - 4 Jan 2021
Derrien Anne-Céline, Rodrigues Manuel, Eeckhoutte Alexandre, Dayot Stéphane, Houy Alexandre, Mobuchon Lenha, Gardrat Sophie, Lequin Delphine, Ballet Stelly, Pierron Gaëlle, Alsafadi Samar, Mariani Odette, El-Marjou Ahmed, Matet Alexandre, Colas Chrystelle, Cassoux Nathalie, Stern Marc-Henri
Abstract excerpt
BACKGROUND: Uveal melanoma (UM) arises from malignant transformation of melanocytes in the uveal tract of the eye. This rare tumor has a poor outcome with frequent chemo-resistant liver metastases. BAP1 is the only known predisposing gene for UM. UMs are generally characterized by low tumor mutation burden, but some UMs display a high level of CpG>TpG mutations associated with MBD4 inactivation. Here, we explored...
Topics
- Aged
- Endodeoxyribonucleases
- Female
- Genetic Predisposition to Disease
- Genotype
- Germ-Line Mutation
- Humans
- Male
- Melanoma
- Middle Aged