# TP53 Mutations in Chagasic Megaesophagus

## TL;DR

This study found TP53 gene mutations in patients with Chagasic megaesophagus, which may increase their risk of developing esophageal carcinoma.

## Contribution

The study reports the first observation of simultaneous TP53 mutations at codons 184 and 185 in Chagasic patients.

## Key findings

- TP53 mutations at codon 184 (GAT > AAT) were found in 14.8% of G1, 10% of G2, and 5% of G3 patients.
- Codon 185 mutations (AGC > AGG) were observed in 14.8% of G1, 10% of G2, and 7.5% of G3 patients.
- An intronic mutation in exon 7 (G > T) was found in 2.7% of G1 and 7.5% of G2 patients.

## Abstract

Patients carrying Chagasic megaesophagus (CME) are at high risk for esophageal carcinoma. We aimed to investigate mutations in the TP53 in patients carrying CME. Blood samples from 114 patients with Chagas disease (CD) were used. The samples were subjected to PCR-SSCP analysis and DNA sequencing in exons 5 and 7 of the TP53 gene. We observed mutations in the exon 5 codon 184 (GAT > AAT) in 14.8% of G1 (11/74), 10% of G2 (4/40), and 5% of G3 (2/40). We also observed the codon 185 mutation (AGC > AGG) in 14.8% of G1 (11/74), 10% of G2 (4/40), and 7.5% of G3 (3/40). Regarding Exon 7, a mutation (G > T) was observed in the intronic region in 2.7% of G1 (2/74), 7.5% of G2 (3/40), and none of G3 (0/40). Our study showed, for the first time, simultaneous mutations at codons 184 and 185 of the TP53 gene in patients with CME and Chagasic patients without megaesophagus. More studies are needed to assess whether the simultaneous presence of mutations at codons 184 and 185 increases the risk of developing esophageal carcinoma in these patients.