Certain mutations in the CDH1 gene have been linked to a rare hereditary syndrome that can increase your risk for diffuse stomach cancer and lobular breast cancer.
The human body is thought to contain more than
Some diseases are caused by gene mutations present from birth. A gene mutation is an abnormal change in the DNA building blocks that makes up a gene.
Research suggests that people with HDGC syndrome have as high as an 80% chance of developing diffuse stomach cancer in their lifetime. As many as 60% of females with HDGC syndrome develop lobular breast cancer.
In this article, we take a deeper look at CDH1 gene mutations and how they relate to cancer.
CDH1, or cadherin 1, is a gene found on
Some people have mutations in their CDH1 gene that predisposes them to HDGC syndrome. These harmful changes are known as pathogenic mutations. A parent with a CDH1 mutation that causes HDGC syndrome has a 50% chance of passing on the gene to a child.
It’s thought that pathogenic CDH1 mutations are particularly common among the
People with CDH1 mutations associated with HDGC syndrome are at an increased risk of developing diffuse stomach cancer. Females are at an increased risk of lobular breast cancer.
Diffuse stomach cancer
Signs and symptoms of diffuse stomach cancer
Lobular breast cancer
Lobular breast cancer is the
Signs and symptoms of lobular breast cancer
Lobular breast cancer tends to cause similar symptoms as other breast cancers, but it can be harder to detect during a breast exam. You may not have symptoms in the early stages. When symptoms do appear, they can include:
- a hardened area inside your breast or under your arm
- dimpling or puckering of skin on your breast
- fullness or swelling of your breast
- changes to your nipple, such as new inversion
- changes in the size or shape of your breast
Researchers are still investigating if there’s a connection between CDH1 mutations and other types of cancer like colorectal cancer or appendix cancer. Some studies have uncovered a potential link while others haven’t.
Doctors can test for CDH1 gene mutations with a blood test. You may consider genetic counseling and screening for a CDH1 mutation if a member of your immediate family has had gastric cancer, or if you’ve been diagnosed with stomach cancer before the age of 40.
- having diffuse stomach cancer and a personal or family history of a cleft lip or cleft palate
- receiving a diagnosis of multiple lobular breast cancers before age 50
- having a family history of two or more cases of lobular breast cancer diagnosed before age 50
- having a personal or family history of diffuse stomach cancer and lobular breast cancer if at least one person received the diagnosis before age 50
If you’re carrying a pathogenic CDH1 gene mutation, your doctor will likely want to start screening you for cancer at a young age. They may also recommend surgically removing your stomach before cancer develops. However, this is a major surgery and it’s important to weigh the pros and cons carefully with your medical team.
- removing the stomach after age 20 before stomach cancer forms to reduce the risk of future cancer
- breast cancer screening in women starting at age 35 with a yearly mammogram as well as a breast MRI and a clinical breast exam every 6 months
- colonoscopy starting at age 40 if you have a family history of colon cancer
Can you live without a stomach?
Yes, a person can live without a stomach. In people who have had their stomach removed, food moves directly from their esophagus to their small intestines.
What’s the outlook for people with diffuse gastric cancer?
The 5-year survival rate for people with diffuse gastric cancer is above
What’s the outlook for people with lobular breast cancer?
In a 2022 study, researchers found the 5-year survival rate among people with lobular breast cancer was 93.6%. The survival rate drops significantly if cancer spreads to distant tissues. It’s
People with certain mutations in their CDH1 gene are at an increased risk of developing HDGC syndrome.
The majority of people with this syndrome develop diffuse stomach cancer in their lifetime. Females have a significant risk of developing lobular breast cancer.
Some studies have found a potential link between CDH1 mutations and colorectal cancer, but more research is needed to understand if there’s a connection.
If you have a CDH1 mutation associated with cancer, your doctor may recommend the removal of your stomach before cancer forms. They may also recommend aggressive screening for breast cancer or colorectal cancer.