By Ann Miller Baker
Recently, multiple news websites carried a story about a Washington state woman who opted to have her entire stomach removed because she tested positive for a genetic mutation linked to increased stomach cancer risk. Physicians suggested genetic testing for Emily LeFrancq because her father, a patient with brain cancer, had tested positive for the CDH1 mutation – one he might have passed along to his children.
So, how rare is this mutation – and the advice to remove a patient’s entire stomach as a precaution against cancer?
Dr. Rutika Mehta, a medical oncologist in the Gastrointestinal Oncology Program at Moffitt Cancer Center, said even though this condition is not very common, it’s one that all oncologists should be aware of, because it puts patients at increased risk for multiple cancers.
“For those who test positive for CDH1, the lifetime risk of developing gastric cancer by the age of 80 years is 70% for males and 56% for females,” explained Mehta. “There is also a higher risk for breast cancer in females, by as much as 42%. Individuals with the CDH1 mutation are recommended to have a prophylactic gastrectomy (surgical stomach removal) between the ages 20 and 30. Breast cancer screening guidelines should be followed as with any high risk breast cancer condition such as BRCA mutations and discussion of prophylactic mastectomy is necessary for female patients.”
Mehta said there are generally two types of stomach cancer. Gastric adenocarcinoma of intestinal type, which produces a mass or tumor in the stomach; and a second type called linitis plastica, the cancer spreads through the layers of the stomach without producing a distinct mass. This makes the walls of the stomach thick. It is usually this type of gastric cancer that’s associated with CDH1 mutations.
“If we see a patient with linitis plastica-type gastric cancer – or, for that matter any young patient with gastric cancer - we typically refer them to our genetic counselors for germline mutation testing,” said Mehta. “There are families that don’t like to talk about their cancer diagnosis. However, sometimes it can affect another person. If you have cancer, it is never wrong to ask your oncologist if your cancer is hereditary and whether they would recommend genetic testing. If you are a young cancer patient, you should undergo genetic testing regardless. It is important that you do this with a genetic counselor who can explain the risks of cancer and other precautions to take if you were to have a deleterious mutation.”
Mehta says she’s had to recommend testing and subsequent precautionary stomach removal for children of gastric cancer patients in the past. She said that having the entire stomach removed can be difficult, as it leaves patients unable to eat three main meals per day. “They have to eat small portions of food at regular intervals of time. For younger people who work or study, this can become challenging. It takes several months for your body to acclimatize to having no stomach and be able to tolerate more frequent, small meals. Weight loss is also imminent because of the fact that there is no stomach. However, I have seen that people develop much healthier eating habits as a result and in turn feel quite well.” For more information about life after stomach removal, Mehta said a foundation called No Stomach For Cancer provides valuable resources.
“It is important for everyone to know about their family history,” said Mehta. “I urge every patient to empower themselves with knowledge. “