AI-guided identification of risk variants for adrenocortical tumours in TP53 p.R337H carrier children: a genetic association study.

ABSTRACT:

Background

Adrenocortical tumours (ACT) in children are part of the Li-Fraumeni cancer spectrum and are frequently associated with a germline TP53 pathogenic variant. TP53 p.R337H is highly prevalent in the south and southeast of Brazil and predisposes to ACT with low penetrance. Thus, we aimed to investigate whether genetic variants exist which are associated with an increased risk of developing ACT in TP53 p.R337H carrier children.

Methods

A genetic association study was conducted in trios of children (14 girls, 7 boys) from southern Brazil carriers of TP53 p.R337H with (n = 18) or without (n = 3) ACT and their parents, one of whom also carries this pathogenic variant (discovery cohort). Results were confirmed in a validation cohor

SUBMITTER: Figueiredo BC 

PROVIDER: S-EPMC11386259 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature