HDGC Clinical Guidelines Updated
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 workshops were held in 2014 and 2019. Our Founder, Karen Chelcun Schreiber, had the privilege of participating in the workshops, and to represent those patients and families she has talked with and learned from over the years through her work with No Stomach For Cancer.
The groups organize 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.
Workshop discussions are 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, supplementary protocols have been published along with the guidelines:
- Protocol and reporting of CDH1 mutation-related gastrectomy specimens
- Cumulative cancer risk in carriers of pathogenic CDH1 variants
- Endoscopy Surveillance Protocol for HDGC
- Summary of Guidelines on the Management of Breast Cancer Risk
- Surgery & Recovery
- Lobular Breast Cancer
- Emerging research areas divided into sections based on patient groups
Updated Consensus Guidelines for HDGC
Download the updated guideline here.
Hereditary Diffuse Gastric Cancer: The past, the present, and hope for the future
Speaker: Dr. Parry Guilford, BSC, MSC, PHD
Professor, Cancer Genetics Laboratory University