Hereditary Diffuse Gastric Cancer Syndrome
“People with HDGC caused by CDH1 gene mutations are born with one mutated copy of the gene in each cell. These mutations cause the production of an abnormally short, nonfunctional version of E-cadherin or alter the protein’s structure. For diffuse gastric cancer to develop, a second mutation involving the other copy of the CDH1 gene must occur in the cells of the stomach lining during a person’s lifetime. Women who are born with one mutated copy of the CDH1 gene have a 56 percent chance of acquiring a second mutation in the other copy of the gene and developing gastric cancer in their lifetimes; men have a 70 percent chance of acquiring a second mutation and developing gastric cancer.When both copies of the CDH1 gene are mutated in a particular cell, that cell cannot produce any functional E-cadherin. The loss of this protein prevents it from acting as a tumor suppressor, contributing to the uncontrollable growth and division of cells. A lack of E-cadherin also impairs cell adhesion, increasing the likelihood that cancer cells will not come together to form a tumor but will invade the stomach wall and metastasize as small clusters of cancer cells into nearby tissues.”
4. The most helpful information for patients and caregivers:
In my opinion, the most helpful information out there comes from www.nostomachforcancer.org. No Stomach For Cancer was founded by an HDGC patient and their mission is “To support research and unite the caring power of people worldwide affected by stomach cancer.” They are very helpful and responsive if you need to reach out to them directly. The following information is from their website.
- HDGC – what is it and what to do next
- Patient Stories
- Recommendations for treatment
- Caregiver information
- Prophylactic total gastrectomy
- Life after stomach removal
- Diet
- Locating a trustworthy doctor
- Community
- Medical guidelines (if you have medical professionals who need to read up on official research documentation) – It’s extremely common that your network of medical professionals have not heard of HDGC as it’s extremely rare.
- Be an advocate
- Fundraise
- and more!
Lastly, there are several Facebook groups that can be helpful as you go through this process. However, beware. Not every story is encouraging and happy. This is a difficult disease and it impacts patients and their families greatly. In Facebook, Search CDH1.
If you have questions, connect with me via Twitter @GoWithoutYoGut. I’ll do my best to connect with you.