Genetic heterogeneity in childhood leukemia/lymphoma: a Turkish cohort with strong predisposition.

ABSTRACT:

Background

Leukemia is the most common cancer in children, and 10%-15% of patients with leukemia/lymphoma carry pathogenic germline cancer-predisposing variants. Identifying these variants is critical for understanding the genetic predisposition and optimizing clinical management.

Methods

We performed germline short-read sequencing in 36 individuals from 20 families with suspected leukemia/lymphoma predisposition, including 20 index cases, 9 affected relatives, and 7 unaffected members.

Results

We identified 13 clinically relevant germline variants in known cancer predisposition genes including TP53, ETV6, MSH6, MLH1, and BRCA1. Notably, we uncovered novel candidate variants in ATR, TNFRSF9, ETAA1, and KSR1, which was supported by segregati

SUBMITTER: Onder G 

PROVIDER: S-EPMC12454056 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature