Genetic screening analysis of patients with hereditary diffuse gastric cancer from northern and northeastern Brazil

Hereditary Cancer in Clinical Practice

Rommel Rodriguez Burbano⁵  Giovanny Rebouças Pinto¹  Juan Antonio Rey⁴  Paulo Pimentel Assumpção⁵  Amanda Braga Bona³  Helem Ferreira Ribeiro³  Leticia Martins Lamarão⁶  Raquel Carvalho Montenegro⁵  Bárbara do Nascimento Borges²  Mariceli Baia Leão Barros³  Caroline Aquino Moreira-Nunes³ 

[1] Genetics and Molecular Biology Laboratory, Federal University of Piaui, Parnaiba, PI 64049-550, Brazil;Biotecnology Institute, Federal Rural University of Amazon, Belem, PA 66077830, Brazil;Biological Science Institute, Federal University of Para, Belem, PA 66075110, Brazil;Molecular Neuro-oncogenetics Laboratory, Research Unit-Unidad de Investigación, Hospital Universitario La Paz, 28046 Madrid, Spain;Nucleus of Research in Oncology, Federal University of Para, Belem, PA 66073000, Brazil;Center of Hematology and Hemotherapy of Para – HEMOPA Foundation, Belem, PA 66033000, Brazil

关键词: HDGC;    CDH1;    Hereditary diffuse gastric cancer;    aCGH;    Array comparative genomic hybridization;   

Others  :  1140077
DOI  :  10.1186/1897-4287-12-18

 received in 2014-05-06, accepted in 2014-08-08,  发布年份 2014

【 摘 要 】

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.

【 授权许可】

   
2014 Moreira-Nunes et al; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

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