title: TP53 mutation profile of esophageal squamous cell carcinomas of patients from Southeastern Brazil.
abstract: Esophageal cancer (EC) is among the 10 most common and fatal malignacies in the world, presenting a marked geographic variation in incidence rates between and within different countries. The TP53 tumor suppressor gene is highly mutated in esophageal tumors and its mutation pattern can offer clues to the etiopathology of the tumor. As Brazil presents one of the highest incidence areas in the West, a deeper knowledge of the molecular mechanisms related to EC development in the Brazilian population is needed. We analyzed the mutation profile of 110 esophageal squamous cell carcinomas (ESCC) of patients from Southeastern Brazil (Rio de Janeiro and São Paulo) and collected data regarding alcohol intake and tobacco smoking. We detected 41 mutations in tumor samples from 38 patients. There was no association between mutation frequency and tobacco smoking or alcohol drinking. The most frequently mutated codons were 179, 214, 220 and 248. Codons 179, 220 and 248 are hot-spots for ESCC, but codon 214 presents only 0.7% of the mutations registered in the IARC database. The mutation profile revealed a high percentage of mutations at A:T base pairs (34.1%) followed by deletions (17.1%). We concluded that the mutation profile detected in this study is different from that of patients from Southern Brazil but very similar to that previously seen in French patients, being characterized by a high frequency of mutations at A:T base pairs, which may be associated with acetaldehyde, the metabolic product of ethanol.
authors: Departamento de Bioquímica, IBRAG, UERJ, Av. 28 de Setembro, 87 fundos, 4° Andar, CEP: 20551-013, Rio de Janeiro, RJ, Brazil.
authors: Ana
authors: A
authors: Rossini
authors: Tatiana
authors: T
authors: de Almeida Simão
authors: Cynthia B
authors: CB
authors: Marques
authors: Sheila C
authors: SC
authors: Soares-Lima
authors: Suellen
authors: S
authors: Herbster
authors: Davy Carlos M
authors: DC
authors: Rapozo
authors: Nelson A
authors: NA
authors: Andreollo
authors: Maria A
authors: MA
authors: Ferreira
authors: Kenya Balbi
authors: KB
authors: El-Jaick
authors: Roberto
authors: R
authors: Teixeira
authors: Denise P
authors: DP
authors: Guimarães
authors: Rodolpho Mattos
authors: RM
authors: Albano
authors: Luis Felipe
authors: LF
authors: Ribeiro Pinto
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000428:Alcohol Drinking; D001938:Brazil / Q000453:epidemiology; D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D004938:Esophageal Neoplasms / Q000235:genetics; D005260:Female; D016158:Genes, p53; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012907:Smoking