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01.12.2014 | Research | Ausgabe 1/2014 Open Access

Hereditary Cancer in Clinical Practice 1/2014

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

Hereditary Cancer in Clinical Practice > Ausgabe 1/2014
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
Wichtige Hinweise

Electronic supplementary material

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.

Competing interests

The authors declare that they have no competing interests.

Authors’ contributions

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.
Authors’ original file for figure 1
Authors’ original file for figure 2
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