Integrative genomic analysis reveals cancer-associated mutations in patients with ophthalmic tumors.

ABSTRACT:

Objective

Apart from the role of the retinoblastoma gene, the genomic events associated with poor outcomes in patients with ophthalmic tumors are poorly understood.

Methods

We retrospectively analyzed 48 patients with six types of ophthalmic tumors. We searched for high-frequency mutated genes and susceptibility genes in these patients using combined exome and transcriptome analysis.

Results

We identified four clearly causative genes (TP53, PTCH1, SMO, BAP1). Susceptibility gene analysis identified hotspot genes, including RUNX1, APC, IDH2, and BRCA2, and high-frequency gene analysis identified several genes, including TP53, TTN, and MUC16. Transcriptome analysis identified 5868 differentially expressed genes, of which TOP2A a

SUBMITTER: Zhu F 

PROVIDER: S-EPMC11283671 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature