Article: A food lover’s decision to remove her stomach highlights difficult decisions around cancer risk
National Public Radio reporter Sáša Woodruff shares her story of learning about her CDH1 mutation and making a decision about risk-reducing surgery. Mutations in the CDH1 gene significantly increase a person’s risk of stomach and breast cancers. Woodruff’s personal essay describes the psychological challenge of making decisions about risk-reducing surgeries and draws attention to a lesser-known mutation linked to hereditary cancer. (Posted 5/17/23)
This article is about the experience of a woman with a 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 mutations in affected family members came back negative. A multigene panel test revealed that Woodruff’s sister carried a mutation linked to , 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 . 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 beginning at age 30
Discussion with a doctor about the benefits, risks and costs of an annual breast
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 ( 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 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.
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
Questions To Ask Your Doctor
I have a family or personal history of stomach cancer or lobular breast cancer. Should I consider genetic testing?
What is my risk of hereditary diffuse gastric cancer?
What is my risk of other cancers associated with my CDH1 mutation?
What options do I have for risk reduction?
What are the benefits and downsides of risk-reducing surgeries? Of surveillance?
What risk-reducing options are best suited to my family history?
FORCE offers many peer support programs for people with inherited mutations.
Our Message Boards allow people to connect with others who share their situation. Once registered, you can post on the Diagnosed With Cancer board to connect with other people who have been diagnosed.
Our Peer Navigation Program will match you with a volunteer who shares your mutation and situation.
Our moderated, private Facebook group allows you to connect with other community members 24/7.
This article draws attention to a lesser-known mutation that is linked to hereditary stomach and breast cancer.
The article is most relevant for people with a CDH1 mutation and/or a family history of diffuse gastric cancer. However, the author discusses aspects of genetic testing and preventive surgery that could be relevant for others in the hereditary cancer community.
Quality of Writing: High
This is a well-written personal essay about Woodruff’s experience with genetic testing and making decisions to reduce her risk of cancer. The essay highlights the challenging decisions and life changes people with cancer-causing mutations must contemplate to take control of their cancer risk.
The scientific information in the essay is accurate. The author discusses key issues about hereditary diffuse gastric syndrome in the context of her personal story.
Because this is a personal essay, the author does not use outside sources to help tell the story. She only quotes the doctor who called to tell her that she has a CDH1 mutation.
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