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Hereditary diffuse gastric cancer
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Hereditary diffuse gastric cancer

Hereditary diffuse gastric cancer (HDGC) is an inherited disorder that significantly increases the risk of developing a specific, invasive form of stomach cancer.

Overview

Hereditary diffuse gastric cancer (HDGC) is an inherited disorder that greatly increases the chance of developing diffuse gastric cancer. In this form, there is no solid tumor; instead, malignant cells multiply underneath the stomach lining, making it thick and rigid. This invasive nature makes it highly likely that cancer cells will spread (metastasize) to other tissues, such as the liver or nearby bones.

Symptoms

Symptoms typically occur late in the disease and include:

  • Stomach pain, nausea, and vomiting
  • Difficulty swallowing (dysphagia)
  • Decreased appetite and weight loss

If the cancer metastasizes, it may lead to an enlarged liver, jaundice, fluid buildup in the abdominal cavity (ascites), firm lumps under the skin, or broken bones.

Risk Factors

Gastric cancer in HDGC usually occurs in a person's late thirties or early forties. Some individuals also have an increased risk of other cancers, including:

  • Lobular breast cancer in women
  • Prostate cancer
  • Colorectal cancer

Causes

Approximately 20 to 40 percent of individuals with HDGC have a mutation in the CDH1 gene. This gene provides instructions for making the protein E-cadherin, which helps cells stick together and acts as a tumor suppressor. When both copies of the CDH1 gene are mutated in a cell, the loss of functional E-cadherin prevents the protein from acting as a tumor suppressor, contributing to the development of cancer.

Inheritance

HDGC is inherited in an autosomal dominant pattern, meaning one copy of the altered CDH1 gene in each cell is sufficient to increase the risk of developing cancer.

Frequently Asked Questions

Because symptoms often appear late, be alert for persistent abdominal pain, early satiety, unexplained weight loss, nausea, vomiting, or difficulty swallowing. If any of these occur, especially if they persist for more than a few weeks, schedule an evaluation with a gastroenterologist promptly.
If you have a family history of diffuse gastric cancer, lobular breast cancer, or colorectal cancer, especially if multiple relatives were diagnosed before age 50, it is recommended to discuss CDH1 genetic testing with a genetic counselor. Early identification can guide preventive measures and surveillance for you and at-risk family members.
The standard approach is a prophylactic total gastrectomy, typically performed before age 30–35, to remove the stomach before cancer develops. If surgery is declined or delayed, regular endoscopic surveillance every 6–12 months is advised, though it is less effective because diffuse cancer often lacks visible lesions.
Carriers have an increased risk of lobular breast cancer (up to 70% lifetime risk) and, to a lesser extent, prostate and colorectal cancers. Women should start breast MRI and mammography at age 30–35 and consider prophylactic mastectomy if high risk. Colonoscopy should begin at age 40–45 and repeat every 5 years.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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