Hereditary Cancer

Hereditary Stomach Cancer (CDH1)

  • Mutation analysis of CDH1 gene
  • Interrogation for specific mutation (relatives)

Hereditary diffuse gastric cancer (HDGC) is a syndrome that is inherited in an autosomal dominant manner.

It is clinically diagnosed based on the family history of a patient and is verified by genetic analysis. 40% of the families analyzed have been found with germline mutations in the CDH1 gene, which codes for the tumor suppressor protein E-cadherin.

Detecting a pathogenic mutation in this gene allows the interrogation of carriers within a family, thus allowing for personalized preventative medicine.

At the BioGenomica laboratory we screen by direct DNA sequencing the entire coding and intronic region of the gene, which allows the detection of known or novel mutations.

Genetic analysis

  • A short family history must be taken. Any information regarding the patient's family history is important and quickens the analysis completion.
  • 2 x 3ml of peripheral blood in EDTA anticoagulant are required. The sample is either sent to BioGenomica laboratory on the same day the blood is being drawn, or can be stored for a longer time period in the freezer (-20 °C) until its postage. (Contant us for more information regarding postage details).
  • Genetic reports are handed to the attending physician in less than six (6) calendar weeks.

OMIM* 192090