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runs in familiesHereditary Diffuse Gastric Cancer testing criteria has been established and is considered in families who meet any of the following criteria.

  • Two or more cases of gastric cancer in first- or second-degree relatives, with at least one case confirmed to be diffuse gastric cancer
  • One case of diffuse gastric cancer diagnosed under age 40
  • A personal or family history of both diffuse gastric cancer and lobular breast cancer, with one diagnosis under age 50

In addition, families in whom testing could be considered are those who meet any of the following criteria.

  • Bilateral lobular breast cancer or family history of two or more cases of lobular breast cancer under age 50
  • A personal or family history of cleft lip/palate in a patient with diffuse gastric cancer
  • In situ signet ring cells and/or pagetoid spread of signet ring cells

Affected patients from families meeting the criteria are referred for genetic counseling and testing for a CDH1 gene mutation. The genetic testing is performed in two stages, diagnostic testing and predictive testing. Diagnostic testing is done using a blood sample from a patient affected with gastric cancer, to identify if a mutation in the CDH1 gene exists to cause the cancer. If a mutation is identified, healthy family members who are at risk for inheriting the same mutation may choose to undergo predictive testing for the same mutation.

People from HDGC families are at an increased risk of developing diffuse-type gastric cancer and lobular breast cancer. It is estimated that the risk of developing gastric cancer by age 80 is 70% in men and 56% in women. Additionally, female carriers are at an increased risk (42% by age 80) for lobular breast cancer.


Know Your Family History As we now know, hereditary diffuse gastric cancer is a rare inherited syndrome that is caused by a genetic mutation in the CDH1 gene. This gene has the possibility of being passed from generation to generation, and the effects of the inheritance can be devastating. Looking beyond HDGC, we notice...

Family HDGC Stories Many families have shared their stomach cancer journeys with the media with the goals of raising awareness of stomach cancer and HDGC. While each of these features stories are about a particular family, the underlying message is the same for HDGC families throughout the world. Change the family...

Interviews on HDGC Medical professional Johanna Chelcun discusses her experience with HDGC and prophylactic gastrectomy in the Yale Cancer Center's Cancer Bytes series . Gut Feelings: Hereditary Gastric and Lobular Breast Cancer (16 min) 05/17/10 Listen Here No Stomach For Cancer: Prophylactic Gastrectomy in a CDH1...