FORCE Blog

This blog will cover topics of interest that affect our community. Unless otherwise stated, the blog articles will be written by Sue Friedman, Executive Director of FORCE.

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My CDH1 Mutation and Why I Chose Preventive Gastrectomy

August 12, 2019

by Jonathan Grossman

photo of Jonathan

On January 4, 2018, my mom died of hereditary diffuse gastric cancer. She carried a CDH1 mutation that we only learned about after her diagnosis. Doctors diagnosed her with the disease roughly three years before she died. Originally, her doctors told her she had only months to live. The gene and cancer site may be different, but our family’s story will likely be familiar for people with a mutation in BRCA1, BRCA2 or another gene associated with significantly increased cancer risk.

One thing about my mom’s early death that is difficult to cope with is that it was avoidable. All the information we would have needed to prevent her death existed before she developed the disease. Specifically, the connection between CDH1 mutations and diffuse gastric cancer was discovered over 15 years before her diagnosis. Genetic testing had become cheaper and more mainstream. Total gastrectomy surgery was possible. And my mom had a cousin who died young of stomach cancer.

Unfortunately, we were unable to connect the dots in time. Plus, diffuse gastric cancer is difficult to diagnose. Usually when someone finds out they have the disease, it is too late.

Mutations in the CDH1 gene are associated with a high risk of developing diffuse gastric cancer. People with the mutation have up to an 80% chance of developing the disease before the age of 80. Women also have about a 50% chance of developing lobular breast cancer in their lifetime.

The connection between CDH1 mutations and cancer was published for the first time in the late 1990s. Despite the discovery, finding which mutation carriers will develop the disease and at what age is challenging. For instance, my mom’s father (also a CDH1 mutation carrier) lived into his mid to late 80s and died of causes unrelated to the CDH1 mutation. In contrast, doctors diagnosed my mom with the disease in her early 60s.

For some cancers, surveillance is a viable option. However, for diffuse gastric cancer, surveillance is not because the cancer is hard to detect. Using modern surveillance techniques to look for cancer cells in the stomach is akin to finding a needle in a haystack. Therefore, negative endoscopic results does not necessarily mean you do not have the disease. Simply, it means they could not find any. For lobular breast cancer, surveillance is more effective. However, many female CDH1 mutation carriers opt to have a double mastectomy.

Luckily, CDH1 mutation carriers have an effective, albeit extreme, way to prevent developing diffuse stomach cancer. Total gastrectomy. Yes, the worldwide medical community recommends that a CDH1 mutation carrier have their stomach removed. Although extreme, with no stomach tissue, one cannot develop stomach cancer.

After learning that my mom carried a CDH1 mutation, word quickly spread within our family. Those of us who also could potentially carry a mutation had genetic testing. My mom’s two sisters, three of my cousins, and I tested positive for the mutation.

On June 1, 2018, I had my stomach removed. My aunt and two cousins had already had theirs removed. Although it has been very challenging at times, I am so grateful to have the option to avoid developing stomach cancer. I wish my mom had the same opportunity. However, because of her, at least six of her family members (plus generations to come) have the option to avoid developing diffuse gastric cancer.

Now, to help others avoid the same fate as my mom, I am raising awareness about CDH1 mutations and genetic mutations in general. My website www.cdh1gene.com has more information about my family’s experience with hereditary cancers, other families’ experiences with hereditary cancers, and what the medical experts have to say.

Jonathan Grossman carriers a CDH1 mutation. He has been thriving without a stomach since June 1, 2018. Mr. Grossman has been researching, writing about, and orally explaining complicated medical and biotechnology issues since 2005.

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3 Comments

  1. Monica Oldenbourg Keck says:

    Brave young man!

  2. Stephen P Maslan says:

    I am so proud of you for doing this research on your mom. I can see how much you loved her. We love you Jon and expect many great things from you.

    Uncle Steve

  3. Bobbi McCall says:

    Your story sounds SO very familiar to mine, but my Mom passed away 30 years ago, in 1989, from stomach cancer. She managed to live a year after diagnosis and surgery, chemo and other treatments.
    I recently, in the past month, had my test done, because we only just learned exactly what to look for, due to other family members. I am positive for the mutation and will opt to have TG and very possibly double mastectomy, as soon as possible, for fear of not living a long and happy life.
    I am very thankful for the testing and options that are available to us now and want to do my part to help raise awareness for this very avoidable cancer.
    Stay strong my friend!

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