Article: A food lover’s decision to remove her stomach highlights difficult decisions around cancer risk

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ARTICLE AT A GLANCE

This article is about the experience of a woman with a CDH1 mutation facing an increased risk of an aggressive form of stomach cancer and a high risk of lobular breast cancer.

Sáša Woodruff’s story highlights the difficult preventive decisions CDH1 carriers face and the sometimes unconventional path to discovering a cancer-causing mutation in one’s family.

Why is this article important?

This article draws attention to a type of cancer-causing mutation that the media rarely covers. CDH1 mutations cause hereditary diffuse gastric cancer (HDGC) syndrome. People with HDGC have a very high risk of developing aggressive stomach cancer. They also have a high risk of developing a type of breast cancer called lobular cancer. Living with increased cancer risk and making risk-management decisions can cause emotional stress. Because CDH1 mutations are rare, it may be more difficult for people with CDH1 mutations to find peer support and resources. Increasing awareness of CDH1 mutations can lead to more resources and help people with these mutations feel less alone.

Breast cancer runs in Woodruff’s family; her aunt, mom and great-grandmother all had breast cancer, but tests for BRCA mutations in affected family members came back negative. A multigene panel test revealed that Woodruff’s sister carried a mutation linked to Lynch syndrome, which increases the risk for colorectal and other cancers, like pancreatic cancer that her sister had. Woodruff tested negative for Lynch syndrome. Because Lynch syndrome would not have caused all the breast cancer in her family, Woodruff pursued additional genetic testing, which revealed her CDH1 mutation.

What is hereditary diffuse gastric cancer?

Hereditary diffuse gastric cancer is a rare type of stomach cancer that runs in families. Typically occurring at a younger age it is difficult to detect in its early stages because it grows throughout the lining of the stomach. By the time the cancer is big enough to find with screening tools such as upper endoscopy, it is usually advanced. About half of HDGCs are caused by inherited mutations in the CDH1 gene. CDH1 mutations can also increase the risk of lobular breast cancer, a type of breast cancer that develops in the glands that make milk.

How does HDGC syndrome affect cancer risk?

Experts note that while CDH1 mutations can increase cancer risk, this risk may vary widely. Some people with an inherited CDH1 mutation do not have a family history or personal history of related cancers. Others have a family history of lobular breast cancer but not stomach cancer. This makes it difficult to predict the risk of cancer in people with a CDH1 mutation. For this reason, genetic counselors often look at family history to help people with CDH1 mutations understand their risk for cancer and to provide recommendations for managing that risk. Current expert guidelines list the following risks:

For people assigned female at birth:

• 40 to 60% chance of developing lobular breast cancer
• 83% lifetime risk for stomach cancer

For people assigned male at birth:

• 67% lifetime risk for stomach cancer

The lifetime risk of stomach cancer in the general population is less than one percent. For a person with an inherited CDH1 mutation, the lifetime risk of developing diffuse gastric cancer can be up to 83 percent and often occurs at younger ages (the average age at diagnosis is 37).

Risk-reducing strategies for hereditary stomach cancer

Due to Sáša Woodruff’s family history of stomach, colon and breast cancer, her healthcare providers strongly recommended a total gastrectomy (stomach removal) to prevent the deadliest cancer that ran in her family.

In her article, Woodruff talks about screening for people who are at risk for hereditary diffuse gastric cancer. The screening procedure is done under anesthesia and involves looking at the stomach using an endoscope (a thin tube with a camera that is threaded through the mouth to the stomach). The doctor takes about 30 biopsies in different parts of the stomach lining to test for cancer. Even with this invasive screening, diffuse stomach cancer is usually detected at an advanced stage. For this reason, experts recommend gastrectomy to prevent the disease.

Expert guidelines for risk management in people with CDH1 mutations include the following:

For managing risk of stomach cancer

• Risk-reducing surgery to remove the stomach between the ages of 18-40 years
• Screening every 6–12 months by upper endoscopy with multiple random biopsies for people who have not had surgery

For managing the risk of breast cancer

• Yearly mammogram beginning at age 30
• Discussion with a doctor about the benefits, risks and costs of an annual breast MRI
• Discussion with a doctor about the benefits, risks and costs of risk-reducing mastectomy

Difficult decisions
Gastrectomy surgery results in major lifestyle changes. In her article, Woodruff writes about her grief surrounding the loss of her stomach because she loves eating, and food is significant for her cultural and social identity. She couldn’t imagine life without a stomach. Woodruff writes about the idea of a preventive gastrectomy, saying:

“It was new to me, unimaginable and frankly, it felt barbaric.”

The stomach helps break down food so the body can easily absorb nutrients. However, most of the digestion happens in the small intestine, where the food is passed after it leaves the stomach. For this reason, people can live relatively normal lives without a stomach. During a total gastrectomy, surgeons remove the entire stomach and attach the esophagus to the small intestine. This changes what and how much food a person can eat, but most people can eventually eat small portions of most of the foods they previously enjoyed.

After making peace with her decision to undergo a total gastrectomy, Woodruff also wrote:

“There are many people who live full, if not altered lives, without a stomach. There are few happy endings with stomach cancer.”

Recovering from stomach removal
Recovery from a total gastrectomy takes time and patience. People often lose weight for a couple of months after their gastrectomy. They may experience symptoms like abdominal cramping, pain, diarrhea and lightheadedness when food moves too fast through their digestive system. These symptoms usually resolve over time. A year after surgery, most people have settled into a new normal with their eating habits.

Woodruff wrote this article just before her gastrectomy. Seven months after her surgery, she spoke about her experience on NPR, saying:

“Once you don’t have a stomach, you actually realize that you don’t really need one.”

Risk-reduction strategies for lobular breast cancer

People with a CDH1 mutation have a high lifetime risk of lobular breast cancer. Because breast cancer is more easily detected at its early stages, some people choose increased surveillance. Alternatively, because of the high lifetime risk of breast cancer, risk-reducing surgery to remove breast tissue (bilateral mastectomy) may be an approach to consider for women with an inherited CDH1 mutation.

What does this mean for me?

Diffuse gastric cancer is rare in the general population, but people with a CDH1 mutation have a very high risk of developing the disease. If you have been diagnosed with HDGC syndrome because of a CDH1 mutation, make sure you speak with a  genetic counselor, who will closely assess your family history of cancer.

Because no reliable screening method exists for detecting early-stage diffuse gastric cancer, expert guidelines recommend that people with HDGC syndrome have surgery to remove their stomach. The recommended age for surgery varies and may depend on your family history.

While these surgeries can reduce your cancer risk, they can be life-changing. You should carefully weigh the pros and cons of the procedures with a team of experts before making a decision.

People with a CDH1 mutation have a high risk of lobular breast cancer in their lifetimes. You may want to discuss with your doctor the most appropriate screening or prevention approaches for your personal and family history.

People with CDH1 mutations looking for resources and support should check out the FORCE website and the website for No Stomach for Cancer.

Reference

Woodruff, Sáša, A food lover faces an unimaginable choice: Give up her stomach or risk a fatal cancer, National Public Radio, published online November 7, 2021.

Additional references:

Blair VR, McLeod M, Carneiro F, et al., Hereditary Diffuse Gastric Cancer: Updated Clinical Practice Guidelines. Lancet Oncology; 2020; 21: Article number 8. Published online August 1, 2020.

Genetic testing: is it better not to know? Consider This, National Public Radio, published online May 13, 2022.

Disclosure: FORCE receives funding from industry sponsors, including companies that manufacture cancer drugs, tests and devices. All XRAYS articles are written independently of any sponsor and are reviewed by members of our Scientific Advisory Board prior to publication to assure scientific integrity.

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posted 5/17/23