Hereditary Cancer and Genetic Testing

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.

Graph of lifetime risk for stomach cancer in women with a <abbr
                data-toggle='tooltip'
                class='glossary-tip tt-cdh1'
                title='<p>CDH1 is the name of a gene that has been&nbsp;associated with hereditary diffuse gastric cancer syndrome. Mutations in CDH1 increase&nbsp;the risk of stomach cancer and breast cancer in women. CDH1 stands for "Cadherin-1."</p>
'
            >CDH1</abbr> mutation     Graph of lifetime risk of stomach cancer in man with a <abbr
                data-toggle='tooltip'
                class='glossary-tip tt-cdh1'
                title='<p>CDH1 is the name of a gene that has been&nbsp;associated with hereditary diffuse gastric cancer syndrome. Mutations in CDH1 increase&nbsp;the risk of stomach cancer and breast cancer in women. CDH1 stands for "Cadherin-1."</p>
'
            >CDH1</abbr> mutation

Graph of lifetime risk for breast cancer in woman with a <abbr
                data-toggle='tooltip'
                class='glossary-tip tt-cdh1'
                title='<p>CDH1 is the name of a gene that has been&nbsp;associated with hereditary diffuse gastric cancer syndrome. Mutations in CDH1 increase&nbsp;the risk of stomach cancer and breast cancer in women. CDH1 stands for "Cadherin-1."</p>
'
            >CDH1</abbr> mutation

 

clinical-trials
Last updated September 02, 2021