Single nucleotide variants in nuclear pore complex disassembly pathway associated with poor survival in osteosarcoma.

ABSTRACT:

Introduction

The bone tumor, osteosarcoma, remains challenging to treat in children and young adults, especially when patients present with metastatic disease. Developing new therapies based on genomic data from sequencing projects has proven difficult given the lack of recurrent genetic lesions across tumors. MYC overexpression has been associated with poor outcomes in osteosarcoma. However, other genomic markers of disease severity are lacking.

Materials and methods

We utilized whole genome sequencing of 106 tumors and matched normal controls in order to define genomic characteristics that correlate with overall survival. Single nucleotide variants were overlaid onto annotated molecular pathways in order to define aberrant pathway signatures specific to aggressive osteosar

SUBMITTER: Jacobs JE 

PROVIDER: S-EPMC10982431 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature