Increasing awareness of HDGC and the rapid advances in genetic diagnostic tools, endoscopic modalities and the increasing use of laparoscopic surgery led a group of clinical geneticists, gastroenterologists, surgeons, oncologists, pathologists, molecular biologists, dietitians and patients’ representatives from nine different countries to convene a workshop in order to update the management guidelines for this condition set in 2010 and to propose directions for future research.
The workshop was held during the month of March 2014 in Nijmegen, The Netherlands. I had the privilege of participating in the workshop as Chair of the Patients and Dietitians group, and to represent those patients and families I have talked with and learned from over the years though my work with No Stomach For Cancer.
The group organized to discuss a variety of topics including genetic testing, surgery, surveillance strategies, pathology reporting and the patient’s perspective on multiple aspects, including diet post gastrectomy. It was an interesting and educational experience, and I am excited to share the new guideline (download link below) published online this month in the Journal of Medical Genetics.
Workshop discussions were focused on five major topics:
• Genetic counseling and mutation analysis
• Endoscopic surveillance and screening of cancer
• Risk-reduction surgery of the stomach and breasts
• Pathological specimen processing and diagnosis
• Patients’ and dietician’ perspective
Updates and new areas addressed in the latest guideline include:
• Updated cancer risks for CDH1 mutation carriers
• Broadened criteria for genetic testing
• Genetic testing lab perspective
• Panel sequencing
• Psychosocial effects of counseling
• Pregnancy and assisted reproduction
• Post-gastrectomy symptoms and treatment options
• Post-surgical care and nutrition
• Patient advocacy and the next steps in patient care and HDGC research
In addition, two supplementary protocols have been published along with the guideline:
• Endoscopy protocol for HDGC
• Protocol and reporting of CDH1 mutation-related gastrectomy specimens
Download the updated guideline: Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers, May 2015