Abstract

Doc number: 18

Abstract

Background: Hereditary diffuse gastric cancer (HDGC) is a hereditary autosomal inherited syndrome associated with CDH1 germline mutations. In Brazil, gastrointestinal tumors are among the most prevalent tumor types and constitute a serious public health problem, especially in the northern and northeastern regions. This study aimed to investigate germline mutations, methylation pattern and genomic rearrangements in the CDH1 gene and quantitative changes in the DNA of HDGC patients in northern and northeastern Brazil.

Methods: Twenty-seven DNA samples from the members of four families affected by HDGC were analyzed using array comparative genomic hybridization (aCGH), DNA sequencing and methylation pattern.

Results: No evidence of gain and loss events or any rearrangements were found in any of the samples tested using aCGH. No promoter region hypermethylation was observed either. Two of the four families presented different types of germline mutations. The 185G > T and 1018A > G germline mutations detected in this study have been described in Asian and European families, respectively. The ancestors of the two families carrying these mutations had originated from those continents.

Conclusion: This is the first study to evaluate CDH1 gene germline mutations in Brazilian families with HDGC. In our study, 50% of the families showed no CDH1 gene alterations, and it is possible that in regions with a high incidence of gastric cancer, such as northern and northeastern Brazil, environmental factors might have induced the different genetic alterations analyzed in this study.

Details

Title
Genetic screening analysis of patients with hereditary diffuse gastric cancer from northern and northeastern Brazil
Author
Moreira-Nunes, Caroline Aquino; Barros, Mariceli Baia Leão; do Nascimento Borges, Bárbara; Montenegro, Raquel Carvalho; Lamarão, Leticia Martins; Ribeiro, Helem Ferreira; Bona, Amanda Braga; Assumpção, Paulo Pimentel; Rey, Juan Antonio; Pinto, Giovanny Rebouças; Burbano, Rommel Rodriguez
Publication year
2014
Publication date
2014
Publisher
BioMed Central
ISSN
17312302
e-ISSN
18974287
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
1558887699
Copyright
© 2014 Moreira-Nunes et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.