'Familial Gastric Cancer' Study: Report Form

Summary of Research

Hereditary cancer syndromes have provided the samples for linkage analysis that made possible the identification of novel cancer-causing genes. Diffuse type gastric cancer remains one of the more common and aggressive human cancers. We propose to collect information from families with clustered cases of gastric cancer and identify pedigrees, which suggest a pattern of autosomal dominant inheritance. Linkage and candidate gene analysis in these pedigrees will be used to identify a potential major susceptibility locus. Mutations have been identified rarely in individuals under the age of 50 so it appears justified to search for germline mutations in gastric cancer cases diagnosed under the age of 45.

In addition, the second part of the study 'The Hereditary Diffuse Gastric Cancer Registry' will collect detailed molecular pathological and clinical information (including quality of life) for cases in whom a mutation in E-cadherin (CDH1) has been identified. This is in order to inform the future management of these families.

Further information about the research study may be found in the full study protocol.

Inclusion Criteria:

  • Any family with two documented cases of diffuse gastric cancer in first or second degree relatives with one case under the age of 50

  • Three or more cases of gastric cancer in the family, diagnosed in any age, with at least one documented case of diffuse gastric cancer


  • Any individual diagnosed with diffuse gastric cancer before the age of 45


  • Any individual diagnosed with both diffuse gastric cancer and lobular breast cancer


  • One member diagnosed with diffuse gastric cancer and another with lobular breast cancer


  • One family member diagnosed with diffuse gastric cancer and another with signet ring colon cancer
  • However, if necessary, the research team will seek confirmation of cancer pathologies

Referral to the study

Clinicians who have identified patients will need to contact the Research Nurse, Sarah Dwerryhouse, by telephone (01223 330019) or email sd449@medschl.cam.ac.uk. Sarah will then send you a permission slip to be given to the patient to sign which will allow the research team in Cambridge to contact them to provide further information about the study.

Details of the study are on Cancer Research UK’s website: www.cancerresearchuk.org