Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia.

ABSTRACT:

Background

Genome-wide sequencing may extensively identify potential pathogenic variants, which helps to understand mechanisms of tumorigenesis, but such study has not been reported in benzene-induced leukemia (BIL).

Methods

We recruited 10 BIL patients and conducted the whole-exome sequencing on their peripheral blood samples. The obtained sequencing data were screened for potential pathogenic and novel variants, then the variants-located genes were clustered to identify cancer-related pathways. Shared or recurrent variants among the BIL cases were also identified and evaluated for their potential functional impact.

Results

We identified 48,802 variants in exons in total, 97.3% of which were single nucleotide variants. After filtering out variants with minor allele f

SUBMITTER: Lin D 

PROVIDER: S-EPMC9878782 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature