Splicing-Disrupting Mutations in Inherited Predisposition to Solid Pediatric Cancer.

ABSTRACT: The prevalence of hereditary cancer in children was estimated to be very low until recent studies suggested that at least 10% of pediatric cancer patients carry a germline mutation in a cancer predisposition gene. A significant proportion of pathogenic variants associated with an increased risk of hereditary cancer are variants affecting splicing. RNA splicing is an essential process involved in different cellular processes such as proliferation, survival, and differentiation, and alterations in this pathway have been implicated in many human cancers. Hereditary cancer genes are highly susceptible to splicing mutations, and among them there are several genes that may contribute to pediatric solid tumors when mutated in the germline. In this review, we have focused on the analysis of germli

SUBMITTER: Alba-Pavon P 

PROVIDER: S-EPMC9739414 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature