The online version of this article (doi:10.1186/1897-4287-12-18) contains supplementary material, which is available to authorized users.
Caroline Aquino Moreira-Nunes contributed equally to this work.
The authors declare that they have no competing interests.
Conceived and designed the experiments: CFAMN, MBLB, BNB, LML, RMRB. Performed the experiments: CFAMN, MBLB, BNB, LML, ABB. Analyzed the data: CFAMN MBLB, BNB, HFR, RMRB. Wrote the paper: CFAMN, PPA, JAR, GRP, RMRB. All authors read and approved the final manuscript.
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.
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.
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.
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.
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- Genetic screening analysis of patients with hereditary diffuse gastric cancer from northern and northeastern Brazil
Caroline Aquino Moreira-Nunes
Mariceli Baia Leão Barros
Bárbara do Nascimento Borges
Raquel Carvalho Montenegro
Leticia Martins Lamarão
Helem Ferreira Ribeiro
Amanda Braga Bona
Paulo Pimentel Assumpção
Juan Antonio Rey
Giovanny Rebouças Pinto
Rommel Rodriguez Burbano
- BioMed Central
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