Noninvasive genomic profiling of somatic mutations in oral cavity cancers.

ABSTRACT:

Objectives

Somatic mutations may predict prognosis, therapeutic response, or cancer progression. We evaluated targeted sequencing of oral rinse samples (ORS) for non-invasive mutational profiling of oral squamous cell carcinomas (OSCC).

Materials and methods

A custom hybrid capture panel targeting 42 frequently mutated genes in OSCC was used to identify DNA sequence variants in matched ORS and fresh-frozen tumors from 120 newly-diagnosed patients. Receiver operating characteristic (ROC) curves determined the optimal variant allele fraction (VAF) cutoff for variant discrimination in ORS. Behavioral, clinical, and analytical factors were evaluated for impacts on assay performance.

Results

Half of tumors involved oral tongue (50 %), and a majority were T1-T2 tumor stage

SUBMITTER: Xi Y 

PROVIDER: S-EPMC10367182 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature