While a number of factors can lead to the development of endometrial cancer (EC), such as age, hormones and weight, inherited genetic conditions can play a big role. Cowden disease, also known as Cowden syndrome, is a rare genetic disorder that increases the risk for several types of cancer, including those of the breast, thyroid and uterus.
What is Cowden disease?
Cowden disease is caused by mutations in the PTEN gene, which produces a protein that keeps cell growth under control. This helps prevent tumors from forming. But when this gene isn’t working properly, cells can grow out of control, making cancer more likely.
People with Cowden disease are also prone to developing noncancerous tumors called hamartomas. These can develop anywhere on the body, but are most often seen on the neck, face or head.
The link between Cowden disease and endometrial cancer
For women with Cowden disease, the lifetime risk of developing endometrial cancer is between 13% and 30%. This is significantly higher than the risk for the general population, which is about 3%. They’re also more likely to develop EC at a younger age.
Additionally, women with Cowden disease may experience other uterine issues, like endometrial polyps, abnormal bleeding or thickening of the uterine lining, which can sometimes lead to cancer.
Diagnosing Cowden disease
Diagnosing Cowden disease isn’t always straightforward. Some people show visible signs, like skin growths, while others may not have any obvious symptoms and only find out they have Cowden syndrome after developing a related cancer.
If your doctor suspects Cowden disease due to a combination of family history, symptoms or related cancers, genetic testing can confirm a diagnosis.
Learn more about EC testing and diagnosis
Cancer screening and prevention for people with Cowden disease
Because of their increased cancer risk, people with Cowden syndrome need closer monitoring. For women, this might include annual ultrasounds or endometrial biopsies starting at age 35. Since Cowden disease also means an increased risk of breast cancer, the American Cancer Association recommends yearly mammograms and breast MRI, starting at age 30.
Colonoscopies to screen for colorectal cancers are also recommended every five years beginning at the age of 35.
If a woman is done having children, some doctors may recommend a preventive hysterectomy to remove the uterus before cancer has a chance to develop.
Early detection of endometrial and other types of cancer can dramatically improve outcomes for people with Cowden disease.
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