Hereditary Diffuse Gastric Cancer

Inheritance

How is hereditary diffuse gastric cancer inherited?

Hereditary diffuse gastric cancer is inherited in an autosomal dominant manner. This means, an individual only needs one mutation in order to have an increased risk for cancer. If a parent has a mutation there is a 50% chance that each of their children could inherit the mutation. If an individual has a mutation there is a 50% chance that their siblings also have the mutation.

References
  • Kaurah P, Huntsman DG. Hereditary Diffuse Gastric Cancer. 2002 Nov 4 [Updated 2014 Jul 31]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
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What does it mean to have inherited a "variant" in the gene for hereditary diffuse gastric cancer?

What does it mean to have inherited a "variant" in the gene for hereditary diffuse gastric cancer?

For hereditary diffuse gastric cancer, a variant means that the change in the DNA sequence of a gene has unknown effects on the gene function or the risk for disease. Individuals who have a variant identified are treated as if it were a negative result until it is reclassified.

Only 30-50% of individuals who undergo genetic testing will have a mutation identified in the CDH1 gene. This suggests that perhaps there is another gene, currently unknown, which may be causing hereditary diffuse gastric cancer.

References
  • Reference: Lindor, N.M. et al. (2007). Concise handbook of familial cancer susceptibility syndromes. Journal of the National Cancer Institute. Monographs, (38) 1-93.

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