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CDH1 Gene Mutations: Cancer Risk

Learn about the cancer risks associated with mutations in the CDH1 gene. Stay up to date by signing up for our community newsletter.

Hereditary Cancer and Genetic Testing > Hereditary Cancer Genes and Risk > Risk Management and Treatment by Mutation > CDH1 > Cancer Risk

CDH1: The Basics CDH1 Gene Mutations: Cancer Risk CDH1: Options for Managing Cancer Risk CDH1: Options for Cancer Treatment CDH1: Other Considerations

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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.

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.