CDH1 Gene Mutations: Cancer Risk
Cancer Risks Associated with Inherited Mutations
People with a mutation have an increased risk for lobular breast cancer and a type of stomach (gastric) cancer called diffuse hereditary gastric cancer (DHGC). However, research published in 2024 suggests that the lifetime risk for stomach cancer in mutation carriers may be lower than previously reported.
If you have tested positive for an inherited mutation, we recommend that you speak with a genetics expert who can look at your personal and family history of cancer and help you decide on a plan for managing your cancer risk.
It is important to note that cancer risks are estimates over the course of a person's lifetime. Your risk will vary, depending on your:
- current age
- sex assigned at birth
- specific mutation
- personal and family health history
- diet, exercise, lifestyle and other factors
Note that when we use the term "men" and "male," we are referring to people assigned male at birth. When we use the term "women" and "female," we are referring to people assigned female at birth.
Cancer Type |
Risk to Age 80 with a CDH1 Mutation |
Lifetime Risk for General Population |
Notes |
Breast cancer in women |
37% - 55% |
12.5% |
Lobular breast cancer is the most common type with a CDH1 mutation. |
Any stage stomach cancer in females |
14% - 33% |
Less than 1% |
The risks appear to be in the higher range in people with 3 or more first-degree relatives (parent, child, sibling) with stomach cancer. |
Advanced stomach cancer in females |
6.5% |
Less than 1% |
|
Any stage stomach cancer in males |
21% - 42% |
Less than 1% |
The risks appear to be in the higher range in people with 3 or more first-degree relatives (parent, child, sibling) with stomach cancer. |
Advanced stomach cancer in males |
10.3% |
Less than 1% |
|
Sources: NCCN Guidelines: Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, vs. 1, 2025; NCCN Guidelines: Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, Gastric, vs. 1, 2024; Ryan CE, et. al. Germline CDH1 Variants and Lifetime Cancer Risk. JAMA. 2024 Jun 14. doi: 10.1001/jama.2024.10852. Epub ahead of print. PMID: 38873722. |
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Other cancers
Researchers are studying whether mutations increase the risk for other cancers. To date, these studies are not conclusive, and the risks for other cancers are unclear. For this reason, genetics experts often look at a family’s history of cancer to help people with mutations understand their risk for additional cancers.
Participate in Research
Clinicaltrials.gov identifier:
NCT04535414
Inherited Cancer Registry (ICARE): Contribute to Research While Staying Informed
Clinicaltrials.gov identifier:
NCT03231891