Cancer risk associated with inherited CDH1 mutations
If you have tested positive for an inherited CDH1 mutation, we recommend that you speak with a genetics expert who can look at your personal and family history of cancer and can help you choose the best plan for managing your cancer risk.
Risks for women
Women who have a CDH1 gene mutation have an increased risk of developing a specific type of breast cancer called lobular breast cancer. The estimated lifetime risk in a woman with a CDH1 mutation is 40-60 percent.
Risks for men and women
Gastric cancer: Men and women who have an inherited CDH1 mutation have an increased risk of developing a specific type of stomach (gastric) cancer called diffuse gastric cancer.
- lifetime risk for gastric cancer is 67 percent for men and 83 percent for women. This compares to less than 1 percent in the general population.
- average age of diagnosis is 37 compared to 68 in the general population.
Some research has suggested that CDH1 mutations may increase the risk for other cancers. However, these studies are not conclusive and lifetime risks for these cancers are not clearly defined. For this reason, genetics experts often look at family history of cancer to help people with CDH1 mutations understand their risk for additional cancers. Research on CDH1 and other cancer risk is ongoing.
- NCT02665195: Prospective Registry Of MultiPlex Testing (PROMPT). PROMPT is an online research registry. The goal of PROMPT is to help researchers to better understand the risks that are linked to mutations in less well-studied genes. People with CDH1 mutations can enroll in PROMPT to help researchers learn more about cancer risks.
- NCT03030404: Hereditary Gastric Cancer Syndromes: An Integrated Genomic and Clinicopathologic Study of the Predisposition to Gastric Cancer. Researchers want to gather data about hereditary gastric cancers. They want to learn about changes these cause in the body and about the genes involved.