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Familial gastric cancer study

The familial gastric cancer study aims to identify new gastric cancer predisposing genes and to improve the treatment and management of individuals with an inherited predisposition to gastric cancer.

Box: 279
Cambridge University Hospitals NHS Foundation Trust
Hills Road,

Telephone: 01223 348933


The study was set up in 1997 by Professor Carlos Caldas originally to collect information and blood samples from families with clustered cases of gastric cancer in the UK.  However, since then there have been several amendments, the last one in February 2011 following publication of updated consensus guidelines for clinical management and directions for future research in 2010.  The Hereditary diffuse Gastric Cancer Registry, maintained here in Cambridge, was also set up a few years ago.

The Chief Investigator for the study is Professor Carlos Caldas and the Principle Investigator is Dr Rebecca Fitzgerald.  The Co-Investigators are Mr Richard Hardwick, Dr Paul Pharoah and Dr Maria O’Donovan.  Also, Dr Marc Tischkowitz, University Lecturer and Honorary Consultant in Medical Genetics, has recently joined the team to bring in his knowledge and expertise.

Currently, the study aims to:

  • Identify those families who fit the criteria for Hereditary Diffuse Gastric Cancer (HDGC) in order to screen their DNA for mutations in the E cadherin gene (CDH1) and to search for mutations in other novel genes.
  • Collect detailed information (clinical, psychological and molecular) on individuals undergoing clinical testing for mutations in order to assess the implications of testing, surveillance and prophylactic surgery on these individuals. 
  • Determine the most effective form of endoscopic surveillance.  An endoscopy protocol has been developed using a Trimodal imaging technique in order to try to detect micro foci of gastric cancer. 
  • Information is being gathered to determine the metabolic sequelae of gastrectomy and we hope to expand this area in the future.

Individuals who fulfil the study criteria will be contacted by the Research Nurse in Cambridge and sent an information sheet about the study and asked to complete a consent form. They will also provide the opportunity for the individual to ask questions about the study.

The Research Nurse will record the family history of cancer and, with your consent, confirm cancers in deceased members of the family. The research team may also request to look at a sample or your (or your relative’s) cancer.  This will have been stored by the hospital at the time of a biopsy or operation, and with your permission, the team will contact the hospital pathology department about this.  A copy of any reports to confirm the diagnosis of everyone taking part in the study will also be requested.  Any information obtained about the pathology in family members is relayed to the Medical Genetic Department to help with the clinical management of family members.  On some occasions patients are referred to the study by a genetic centre so we may already information about family history/cancer confirmations.

If the individual consents to provide a blood sample or saliva sample (which can be done at home) the relevant kit and envelope for return will be sent in the post to be returned to the Research Nurse in Cambridge. These samples are stored for DNA analysis. Your GP will also be contacted to inform them that their patient is participating in the study. 

A few people taking part in the study will be found to have an alteration (mutation) in a gene called CDH-1, and the research team would like to collect more information about this.  Individuals from families who meet the criteria for Hereditary Diffuse Gastric Cancer and who have undergone clinical testing will be invited to take part in the second part of the study called the “Hereditary Diffuse Gastric Cancer Registry”.  If consent is given information will be held on the register which is maintained here in Cambridge.  Quality of Life questionnaires will be sent to the individual at regular intervals e.g. genetic testing, endoscopic screening and before/after surgery.  The aim of the questionnaires is to measure the impact of screening and surgery including morbidity, quality of life and the psychological effects of surgery.