Related Experiment Video
Updated: Oct 16, 2025
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
6.3K
Hereditary diffuse gastric cancer (HDGC). An overview.
L Taja-Chayeb1, S Vidal-Millán2, C Trejo-Becerril1
1Epigenetics Laboratory, Basic Research Division, Instituto Nacional de Cancerología (INCAN), México.
Clinics and Research in Hepatology and Gastroenterology
|October 17, 2021
Summary
Hereditary diffuse gastric cancer (HDGC) is a rare, inherited cancer linked to CDH1/CTNNA1 gene mutations. Early identification and genetic testing are crucial for effective management and prevention in at-risk families.
Area of Science:
- Oncology
- Genetics
- Gastroenterology
Background:
- Gastric cancer exhibits familial aggregation in up to 10% of cases, with 1-3% being hereditary.
- Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant condition linked to CDH1 and CTNNA1 gene mutations.
- The multifocal nature and subtle precursor lesions of HDGC complicate endoscopic diagnosis, highlighting the importance of awareness for preventive surgery.
Purpose of the Study:
- To provide a comprehensive overview of Hereditary Diffuse Gastric Cancer (HDGC).
- To detail the epidemiological, clinical, genetic, and pathological characteristics of HDGC.
- To present updated guidelines for the diagnosis, genetic testing, counseling, surveillance, and management of HDGC.
Main Methods:
- Literature review and synthesis of existing data on HDGC.
- Analysis of epidemiological trends and genetic underpinnings.
- Compilation of current international guidelines for HDGC management.
Main Results:
- HDGC is characterized by autosomal dominant inheritance involving CDH1 or CTNNA1 gene mutations.
- Early diagnosis is challenging due to multifocal disease and difficulty visualizing precursor lesions.
- Surgical prevention is highly effective if implemented proactively.
Conclusions:
- HDGC is a rare, highly penetrant disease requiring accurate identification for optimal patient and family management.
- Genetic testing is critical for identifying affected individuals and at-risk relatives.
- Adherence to International Gastric Cancer Linkage (IGCL) recommendations is essential for managing HDGC.
Related Concept Videos
02:59Cancer Prevention
6.4K
Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
Some...
Some...
6.4K
01:33Cancer-Critical Genes I: Proto-oncogenes
9.3K
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...
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...
9.3K
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
94
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
94
01:27Gastritis-I: Introduction and Types
1.2K
Gastritis, defined by the inflammation or irritation of the stomach lining or gastric mucosa, manifests in several distinct forms: acute, chronic, reactive, and a specific subtype known as autoimmune metaplastic atrophic gastritis.
Acute gastritis presents as a sudden inflammation triggered by various stressors to the stomach lining, such as exposure to corrosive agents, local irritants like aspirin and other NSAIDs, alcohol consumption, radiation therapy, physical trauma, severe burns, sepsis,...
Acute gastritis presents as a sudden inflammation triggered by various stressors to the stomach lining, such as exposure to corrosive agents, local irritants like aspirin and other NSAIDs, alcohol consumption, radiation therapy, physical trauma, severe burns, sepsis,...
1.2K
01:05Cancer-Critical Genes II: Tumor Suppressor Genes
8.4K
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...
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...
8.4K
01:20The Retinoblastoma Gene
4.3K
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.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.3K