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Rare Disease Forum by Genetidoc Genetic Clinic › Forums › Cancer Genetics › Hereditary Cancer Syndromes › Hereditary diffuse gastric cancer › What family history pattern should prompt someone to consider genetic testing?

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    • #360
      Anonymous
      Moderator

      What family history pattern should prompt someone to consider genetic testing for Hereditary diffuse gastric cancer ?

    • #376

      Testing is typically considered when a family shows one or more of these patterns:

      *Two or more cases of gastric cancer in close relatives, with at least one being diffuse-type, at any age
      *One case of diffuse-type gastric cancer diagnosed before age 40, even without other affected relatives
      *A personal or family history of diffuse gastric cancer together with a specific type of breast cancer called lobular breast cancer (CDH1 gene mutations also raise this risk in women)
      *A family history of cleft lip or cleft palate alongside diffuse gastric cancer (seen in some families with CDH1 gene mutations)
      A genetic counselor can assess the specific family pattern and advise whether testing for the CDH1 or CTNNA1 genes is appropriate, since not every family history needs testing.

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