1. A second case report of medulloblastoma in a patient carrying biallelic pathogenic MUTYH germline variants.
- Author
-
Cipri, Selene, Del Baldo, Giada, Carai, Andrea, Cacchione, Antonella, Agolini, Emanuele, Novelli, Antonio, Rossi, Sabrina, Colafati, Giovanna Stefania, Boccuto, Luigi, and Mastronuzzi, Angela
- Subjects
- *
RECESSIVE genes , *GERM cells , *MEDULLOBLASTOMA , *BRCA genes , *CANCER genetics , *INFORMED consent (Medical law) , *MEDICAL genetics - Abstract
This article discusses a case report of a patient with medulloblastoma (MB) who carried biallelic pathogenic MUTYH germline variants. The MUTYH gene is involved in DNA repair and is associated with a type of adenomatous polyposis affecting the colon and duodenum. While there is speculation about an increased risk of other cancers, such as ovarian, endometrial, and breast cancers, the connection remains unclear. The case report highlights the importance of considering MUTYH in the context of MB and related conditions and the need for further research to understand the genetic factors contributing to this cancer. [Extracted from the article]
- Published
- 2024
- Full Text
- View/download PDF