Hereditary diffuse gastric cancer

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Disease Overview

Hereditary diffuse gastric cancer (HDGC) leads to an increased risk (predisposition) of developing a specific form of stomach cancer called diffuse gastric cancer. Women with HDGC also have an increased risk for lobular breast cancer. Cancers associated with HDGC generally occur at earlier ages than those seen in people who do not have a hereditary predisposition to cancer. HDGC is caused by genetic variants in the CDH1 gene and the CTNNA1 gene. It is inherited in an autosomal dominant pattern. Diagnosis of HDGC is based on the symptoms, family history, and may be confirmed by the results of genetic testing. Treatment is focused on reducing the risk to develop cancer and includes increased screening for gastric cancer (endoscopy) and breast cancer in women (mammography). In some cases, surgery is done to remove the stomach before cancer develops (prophylactic surgery).[8515][15929][15930]


Synonyms

  • HDGC
  • Gastric cancer, hereditary diffuse
  • Gastric cancer, familial diffuse
  • Familial diffuse cancer of stomach
  • Familial diffuse gastric cancer
  • FDGC
  • Hereditary diffuse cancer of stomach
  • Hereditary diffuse gastric adenocarcinoma

For more information, visit GARD.

National Organization for Rare Disorders