Germline functional variants contribute to somatic mutation and outcomes in neuroblastoma.

ABSTRACT: Germline genetic context may play a significant role in the development and evolution of cancer, particularly in childhood cancers such as neuroblastoma. This study investigates the role of putatively functional germline variants in neuroblastoma, even if they do not directly increase disease risk. Our whole-exome sequencing analysis of 125 patients with neuroblastoma reveals a positive correlation between germline variant burden and somatic mutations. Moreover, patients with higher germline variant burden exhibit worse outcomes. Similar findings are observed in the independent neuroblastoma cohort where a higher germline variant burden correlates with a higher somatic mutational burden and a worse overall survival outcome. However, contrasting results emerge in adult-onset cancer, emphasi

SUBMITTER: Seo ES 

PROVIDER: S-EPMC11437149 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature