Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

ABSTRACT:

Background

Acute lymphoblastic leukemia (ALL) is the most common hematologic malignancy in children, representing 25% of all new cancer diagnoses. Advances in genomic sequencing have demonstrated that inherited genetic risk factors play a larger role in leukemia development than previously appreciated.

Aim

We identified a father-daughter dyad with childhood B-cell ALL and aimed to investigate whether the pair shared a gene associated with leukemia predisposition.

Methods

We performed whole exome sequencing on their leukemia and germline samples and RNA-seq on their leukemia samples.

Results

We discovered a novel germline chromosomal structural variant in chromosome 1q32.2 within the TRAF3IP3 gene. TRAF3IP3 regulates B-cell lymphopoiesis, and this mutation likel

SUBMITTER: Pommert L 

PROVIDER: S-EPMC8222551 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature