Comparative Study on Mutations in CDH1 Gene in Iranian Patients with Hereditary Diffuse Gastric Cancer (HDGC) and Sporadic Diffuse Gastric Cancer (SDGC)
Background: Gastric cancer (GC) is the fourth common cancer worldwide and the second cause of mortality among all cancers. Mutations in the CDH1 gene are the most common cause of hereditary diffuse gastric cancer (HDGC) and sporadic diffuse gastric cancer (SDGC). CDH1 gene encode for E-cadherin prot...
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| Format: | Article |
| Language: | fas |
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Isfahan University of Medical Sciences
2017-07-01
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| Series: | مجله دانشکده پزشکی اصفهان |
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| Online Access: | http://jims.mui.ac.ir/index.php/jims/article/view/7869 |
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| author | Abbas Moridnia Majid Kheirollahi Mohammad Amin Tabatabaeefar Mehrdad Zeinalian |
| author_facet | Abbas Moridnia Majid Kheirollahi Mohammad Amin Tabatabaeefar Mehrdad Zeinalian |
| author_sort | Abbas Moridnia |
| collection | DOAJ |
| description | Background: Gastric cancer (GC) is the fourth common cancer worldwide and the second cause of mortality among all cancers. Mutations in the CDH1 gene are the most common cause of hereditary diffuse gastric cancer (HDGC) and sporadic diffuse gastric cancer (SDGC). CDH1 gene encode for E-cadherin protein. We compared the nucleotide alterations and copy number variations in CDH1 gene between Iranian patients with HDGC and SDGC.
Methods: We evaluated 45 patients including 17 cases with HDGC and 28 cases with SDGC identified according to the histopathological criteria and familial history. DNA extraction was obtained from peripheral blood and formalin-fixed paraffin-embedded (FFPE) tissues. The DNA sequencing was completed using polymerase chain reaction (PCR) amplification of 16 exons of the CDH1 gene. Multiplex ligation-dependent probe amplification (MLPA) method was accomplished on samples with no pathogenic variants in sequencing.
Findings: Synonymous substitution of L116L and A692A was detected in patients with HDGC and SDGC; but non-synonymous substitution of D777E, c.889delA, and c.1177delA deletions only detected in patients with HDGC. MLPA results revealed one deletion in exon 1 of CDH1 gene in patients with HDGC and one deletion in exon 2, and one duplication in exon 9 of CDH1 gene in patients with SDGC.
Conclusion: According to the results, different variants in CDH1 gene was presented in patients with HDGC and SDGC that emphasis the survey of CDH1 variants and especially detected variants in this study in the diagnosis of diffuse gastric cancer disease. |
| first_indexed | 2024-03-12T09:08:32Z |
| format | Article |
| id | doaj.art-fc8699f8eaaa4f7a8de5331f5b7c091e |
| institution | Directory Open Access Journal |
| issn | 1027-7595 1735-854X |
| language | fas |
| last_indexed | 2024-03-12T09:08:32Z |
| publishDate | 2017-07-01 |
| publisher | Isfahan University of Medical Sciences |
| record_format | Article |
| series | مجله دانشکده پزشکی اصفهان |
| spelling | doaj.art-fc8699f8eaaa4f7a8de5331f5b7c091e2023-09-02T15:09:44ZfasIsfahan University of Medical Sciencesمجله دانشکده پزشکی اصفهان1027-75951735-854X2017-07-01354326226282544Comparative Study on Mutations in CDH1 Gene in Iranian Patients with Hereditary Diffuse Gastric Cancer (HDGC) and Sporadic Diffuse Gastric Cancer (SDGC)Abbas Moridnia0Majid Kheirollahi1Mohammad Amin Tabatabaeefar2Mehrdad Zeinalian3Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, IranAssociate Professor, Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease AND Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, IranAssociate Professor, Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, IranAssistant Professor, Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, IranBackground: Gastric cancer (GC) is the fourth common cancer worldwide and the second cause of mortality among all cancers. Mutations in the CDH1 gene are the most common cause of hereditary diffuse gastric cancer (HDGC) and sporadic diffuse gastric cancer (SDGC). CDH1 gene encode for E-cadherin protein. We compared the nucleotide alterations and copy number variations in CDH1 gene between Iranian patients with HDGC and SDGC. Methods: We evaluated 45 patients including 17 cases with HDGC and 28 cases with SDGC identified according to the histopathological criteria and familial history. DNA extraction was obtained from peripheral blood and formalin-fixed paraffin-embedded (FFPE) tissues. The DNA sequencing was completed using polymerase chain reaction (PCR) amplification of 16 exons of the CDH1 gene. Multiplex ligation-dependent probe amplification (MLPA) method was accomplished on samples with no pathogenic variants in sequencing. Findings: Synonymous substitution of L116L and A692A was detected in patients with HDGC and SDGC; but non-synonymous substitution of D777E, c.889delA, and c.1177delA deletions only detected in patients with HDGC. MLPA results revealed one deletion in exon 1 of CDH1 gene in patients with HDGC and one deletion in exon 2, and one duplication in exon 9 of CDH1 gene in patients with SDGC. Conclusion: According to the results, different variants in CDH1 gene was presented in patients with HDGC and SDGC that emphasis the survey of CDH1 variants and especially detected variants in this study in the diagnosis of diffuse gastric cancer disease.http://jims.mui.ac.ir/index.php/jims/article/view/7869CDH1Diffuse gastric cancerIran |
| spellingShingle | Abbas Moridnia Majid Kheirollahi Mohammad Amin Tabatabaeefar Mehrdad Zeinalian Comparative Study on Mutations in CDH1 Gene in Iranian Patients with Hereditary Diffuse Gastric Cancer (HDGC) and Sporadic Diffuse Gastric Cancer (SDGC) مجله دانشکده پزشکی اصفهان CDH1 Diffuse gastric cancer Iran |
| title | Comparative Study on Mutations in CDH1 Gene in Iranian Patients with Hereditary Diffuse Gastric Cancer (HDGC) and Sporadic Diffuse Gastric Cancer (SDGC) |
| title_full | Comparative Study on Mutations in CDH1 Gene in Iranian Patients with Hereditary Diffuse Gastric Cancer (HDGC) and Sporadic Diffuse Gastric Cancer (SDGC) |
| title_fullStr | Comparative Study on Mutations in CDH1 Gene in Iranian Patients with Hereditary Diffuse Gastric Cancer (HDGC) and Sporadic Diffuse Gastric Cancer (SDGC) |
| title_full_unstemmed | Comparative Study on Mutations in CDH1 Gene in Iranian Patients with Hereditary Diffuse Gastric Cancer (HDGC) and Sporadic Diffuse Gastric Cancer (SDGC) |
| title_short | Comparative Study on Mutations in CDH1 Gene in Iranian Patients with Hereditary Diffuse Gastric Cancer (HDGC) and Sporadic Diffuse Gastric Cancer (SDGC) |
| title_sort | comparative study on mutations in cdh1 gene in iranian patients with hereditary diffuse gastric cancer hdgc and sporadic diffuse gastric cancer sdgc |
| topic | CDH1 Diffuse gastric cancer Iran |
| url | http://jims.mui.ac.ir/index.php/jims/article/view/7869 |
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