A common polymorphism in the retinoic acid pathway modifies adrenocortical carcinoma age-dependent incidence.

ABSTRACT:

Background

Genome-wide association studies (GWASs) have enriched the fields of genomics and drug development. Adrenocortical carcinoma (ACC) is a rare cancer with a bimodal age distribution and inadequate treatment options. Paediatric ACC is frequently associated with TP53 mutations, with particularly high incidence in Southern Brazil due to the TP53 p.R337H (R337H) germline mutation. The heterogeneous risk among carriers suggests other genetic modifiers could exist.

Methods

We analysed clinical, genotype and gene expression data derived from paediatric ACC, R337H carriers, and adult ACC patients. We restricted our analyses to single nucleotide polymorphisms (SNPs) previously identified in GWASs to associate with disease or human traits.

Results

A SNP, rs971074, in th

SUBMITTER: Surakhy M 

PROVIDER: S-EPMC7156685 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature