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Updated: May 17, 2026

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform

Published on: May 10, 2024

Hereditary gastric cancer.

¹Institute of Molecular Pathology and Immunology, University of Porto, Rua Dr Roberto Frias S/N, 4200-465 Porto, Portugal. fcarneiro@ipatimup.pt

|October 12, 2012

Summary

Hereditary diffuse gastric cancer (HDGC) and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) are distinct genetic syndromes. Understanding these hereditary gastric cancer syndromes is crucial for early detection and management.

Area of Science:

Gastroenterology
Oncology
Genetics

Background:

Hereditary diffuse gastric cancer (HDGC) is linked to germline CDH1 gene alterations, with over 100 mutations identified.
Prophylactic total gastrectomy is advised for mutation carriers, revealing intramucosal signet-ring cell carcinoma and pre-invasive lesions.
Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is a distinct syndrome identified in 2011.

Purpose of the Study:

To differentiate between HDGC and GAPPS syndromes.
To highlight the genetic basis and clinical manifestations of these hereditary gastric cancer syndromes.
To inform diagnostic and management strategies for individuals at risk.

Main Methods:

Review of literature on HDGC and GAPPS.

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Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer

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Published on: September 18, 2020

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Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform

Published on: May 10, 2024

Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer

Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer

Published on: September 18, 2020

Analysis of genetic alterations (CDH1 mutations) in HDGC.

Histopathological examination of prophylactic gastrectomies in HDGC patients.

Characterization of GAPPS based on its unique polyposis and cancer risk profile.

Main Results:

HDGC is caused by germline CDH1 alterations, leading to signet-ring cell carcinoma.
GAPPS presents as fundic gland polyposis in the proximal stomach with a high risk of adenocarcinoma.
GAPPS is inherited in an autosomal dominant pattern and is not associated with colorectal or duodenal polyposis.

Conclusions:

HDGC and GAPPS are distinct hereditary gastric cancer syndromes with different genetic underpinnings and clinical presentations.
Accurate diagnosis of these syndromes is essential for appropriate genetic counseling and clinical management.
Further research into the molecular mechanisms and optimal surveillance strategies for both syndromes is warranted.