Stomach cancer is one of the most common types of cancers in Southeast Asia, Central and South America. However, most cases of gastric cancer are not the diffuse type. An estimated 1 to 3% of gastric cancer cases are diffuse.
Exact risks of cancer are difficult to estimate and vary between families with HDGC. Some studies have shown that men with the CDH1 gene variant and a strong family history of stomach cancer have up to a 70% risk of having diffuse gastric cancer in their lifetime, while women have up to a 56% risk of having diffuse gastric cancer and around 40% risk of lobular breast cancer in their lifetime. These cancers can affect all age groups, sometimes as early as the teens or twenties. Although some earlier studies have suggested a possible link to other cancers like colon and/or rectal cancers, the current findings suggest there is likely no increased risk for these cancers in people with an inherited CDH1 mutation.
Once an inherited CDH1 gene variant is detected in a person, a multidisciplinary team of experts comprised of surgeons, gastroenterologists, genetic counselors, nutritionists and pathologists, such as the team at the UChicago Medicine Gastrointestinal Cancer Risk and Prevention Clinic, can provide personalized recommendations. These options vary greatly by patient, but often include:
- Endoscopic surveillance with random biopsies. This method of surveillance involves being sedated and having samples of the stomach lining biopsied to attempt to identify cancerous cells. However, this method is like “looking for a needle in a haystack” due to the diffuse nature of the cancer. It can be difficult to identify these cells by taking biopsies because there are usually no visual differences of the stomach that can be seen with a scope to help target the biopsies. Therefore, the best way we have to reduce the risk of gastric cancer in CDH1 carriers is to have surgery.
- Surgery. If you have an increased cancer risk based on criteria met (a strong family history and CDH1 gene variant), your doctor may recommend a prophylactic (preventive) total gastrectomy. During a total gastrectomy, the entire stomach is removed and a part of the small bowel is then extended straight up to meet the esophagus. The cut end of the duodenum is then reconnected to the small bowel.
Life after surgery is very manageable, and while not having a stomach may seem daunting, over time the body will adjust to the "new normal." Your care team will discuss post-surgery recommendations with you, such as nutritional needs.
- Breast cancer surveillance. Managing your breast cancer risk through breast surveillance is important for women in HDGC families. It is recommended that women affected by a CDH1 gene mutation meet with a breast oncologist or breast surgeon for yearly clinical breast exams and to talk about screening for lobular breast cancer. Beginning at age 30, active surveillance may include screening breast MRIs, in addition to annual mammograms and medication therapy. Some patients may even consider preventative mastectomy as an option, but this is not routinely recommended for CDH1 mutation carriers.
GI Cancer Risk and Prevention
The Gastrointestinal Cancer Risk and Prevention Clinic cares for individuals who have an increased risk of gastrointestinal cancer due to family history, medical and genetic factors, and more.Learn about GI cancer risk and prevention
Stomach removal eliminates risk of cancer for patient with CDH1 mutation
After Jon Grossman learned he was at high risk for stomach cancer, the UChicago Medicine gastrointestinal cancer team provided personalized care — from genetic testing to surgery to nutrition counseling, and more.
Understanding Stomach Cancer
Physicians Sonia Kupfer, MD, and Kevin Roggin, MD, discuss the genetic factors of stomach cancer, the comprehensive care offered at UChicago Medicine, such as personalized assessments and preventive options, as well as the unique resources available.