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Related Concept Videos

Gastritis II: Pathophysiology01:26

Gastritis II: Pathophysiology

The pathophysiology of gastritis begins with the colonization of the stomach lining by Helicobacter pylori (H. pylori). This bacterium spreads mainly via the oral-oral route through saliva or shared utensils, and can also be transmitted in overcrowded or unhygienic environments through contaminated water, despite its brief survival outside the body.ColonizationOnce ingested, H. pylori enters the stomach and begins colonization by navigating through the mucus layer lining the stomach wall. It...
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Cancer-Critical Genes I: Proto-oncogenes01:33

Cancer-Critical Genes I: Proto-oncogenes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Gastritis-II: Pathophysiology01:17

Gastritis-II: Pathophysiology

Gastritis is marked by disruption of the mucosal barrier that usually protects the stomach tissue from digestive juices and manifests in acute and chronic forms.
In acute gastritis, the gastric mucosa becomes swollen and red and undergoes superficial erosion. Superficial ulceration may lead to bleeding.
In chronic gastritis, persistent or repeated insults lead to chronic inflammatory changes and, eventually, thinning or atrophy of the gastric tissue.
Gastritis can stem from various causes, each...
Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...

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Related Experiment Video

Updated: May 19, 2026

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform
06:21

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

Published on: May 10, 2024

[Hereditary diffuse gastric cancer].

A Puchmajerová1, P Vasovčák, E Macháčková

  • 1Ústav biologie a lékařské genetiky, Fakultní nemocnice v Motole, Praha. alena.puchmajerova@lfmotol.cuni.cz

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti
|August 28, 2012
PubMed
Summary

Hereditary diffuse gastric cancer (HDGC) is an inherited condition with high risks of gastric and breast cancers, often linked to CDH1 gene mutations. Genetic testing and preventive strategies are crucial for managing this syndrome.

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Detection of a CDH1 Rare Transcript Variant in Fresh-frozen Gastric Cancer Tissues by Chip-based Digital PCR
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Detection of a CDH1 Rare Transcript Variant in Fresh-frozen Gastric Cancer Tissues by Chip-based Digital PCR

Published on: February 5, 2018

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Last Updated: May 19, 2026

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform
06:21

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

Published on: May 10, 2024

Detection of a CDH1 Rare Transcript Variant in Fresh-frozen Gastric Cancer Tissues by Chip-based Digital PCR
09:16

Detection of a CDH1 Rare Transcript Variant in Fresh-frozen Gastric Cancer Tissues by Chip-based Digital PCR

Published on: February 5, 2018

Area of Science:

  • Genetics
  • Oncology
  • Gastroenterology

Background:

  • Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant cancer syndrome.
  • It presents with a high lifetime risk for diffuse gastric cancer and lobular breast carcinoma.
  • HDGC is associated with late onset and poor prognosis, with an average age of 38.

Purpose of the Study:

  • To outline indications for genetic testing of germline CDH1 gene mutations.
  • To discuss predictive testing, preventive care, and management options for HDGC.
  • To explore prophylactic gastrectomy and preimplantation diagnosis for families with HDGC.

Main Methods:

  • Review of genetic testing protocols for CDH1 mutations.
  • Analysis of risk factors and clinical presentation of HDGC.
  • Evaluation of current preventive and diagnostic strategies.

Main Results:

  • Germline mutations in the E-cadherin (CDH1) gene are frequently identified in HDGC families.
  • Lifetime risk of gastric cancer by age 80 is 67% for men and 83% for women.
  • Late presentation and poor prognosis are characteristic of HDGC.

Conclusions:

  • Genetic testing for CDH1 mutations is essential for diagnosing HDGC.
  • Proactive management including genetic counseling, surveillance, and prophylactic surgery is vital.
  • Preimplantation diagnosis offers reproductive options for affected families.