CDH1 and HDGC - the key facts

• Hereditary Diffuse Gastric Cancer (HDGC) is caused by inherited mutations in the E-cadherin gene (CDH1).
• Mutation carriers have a 56-70% lifetime risk of developing stomach cancer.
• Female carriers have an additional 39-55% risk of developing breast cancer (lobular type).
• It is recommended that mutation carriers have their stomachs removed after the age of about 20-30 years to eliminate further risk. Otherwise, annual endoscopic surveillance is recommended, although this comes with some risk.
• Most people return to largely normal lives 6-12 months after stomach removal (gastrectomy).
• Annual MRIs are recommended for breast cancer surveillance from age 30.

HDGC in New Zealand

• There are over 500 known HDGC families worldwide, with new families being identified each week.
• There are approximately 25 known HDGC families in New Zealand.
• HDGC was first identified in New Zealand in a research partnership between an affected whānau from the Bay of Plenty and the University of Otago.

HDGC Management Guidelines

There is a wealth of information to be found on Diffuse Gastric Cancer specific websites including:

• No Stomach for Cancer

• Hereditary Diffuse Gastric Cancer.org
• Zane Cohen Centre for Digestive Diseases

A pamphlet for NZ based patients:

• CDH1 journey by our whānau - my hospital passport pdf

Research into CDH1 at Te Aho Matatū

• Understanding CDH1 mutations and their effects
• Synthetic Lethality as a potential treatment option
• Epigenetic chemoprevention of gastric cancer