TP53 p.Arg337His geographic distribution correlates with adrenocortical tumor occurrence.

ABSTRACT:

Background

The p.Arg337His mutation of the TP53 is the most frequent germline missense variant associated with cancer described so far in this gene. It is mainly found in the South and Southeastern regions of Brazil, where it has been associated with a high incidence of pediatric adrenocortical (ACT) and choroid plexus tumors. The frequency and geographic distribution of this mutation is largely unknown, except for the Parana State, where a mean prevalence of 0.27% was reported. In the present study, we developed a high-throughput method for p.Arg337His genotyping, what allowed us to determine the frequency and geographic distribution of this mutation in a cohort from the most populous state in Brazil.

Methods

Consecutive samples from 31,612 newborns from São Paulo State wer

SUBMITTER: Seidinger AL 

PROVIDER: S-EPMC7503091 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature