Molecular pathology of familial gastric cancer, with an emphasis on hereditary diffuse gastric cancer
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Updated: Jul 14, 2026

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform
Published on: May 10, 2024
F Carneiro1, C Oliveira, G Suriano
1Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal. fcarneiro@ipatimup.pt
Abstract:
Gastric cancer is one of the major causes of cancer-related death worldwide. Familial clustering is observed in about 10% of cases; 1-3% of cases are hereditary. In the latter group, a syndrome which has been well characterised is hereditary diffuse gastric cancer; this is specifically associated with CDH1 (E-cadherin) germline mutations in about 30% of families. In this article, the state of the art of familial gastric cancer regarding the clinical, molecular and pathology features is reviewed, as well as the practical aspects for a correct diagnosis and clinical management.
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