PTEN gene mutation (Cowden syndrome)

Convincing: There is compelling and consistent evidence that the factor increases or decreases the risk of endometrial cancer. Increases risk

There is convincing evidence that having a fault in the PTEN gene as part of Cowden syndrome is associated with an increased risk of endometrial cancer.

Around 1 in 4 women who have a PTEN gene fault are likely to develop endometrial cancer by the age of 70 years.

Cowden syndrome is a rare inherited condition that is associated with some benign (non-cancerous) growths in different parts of the body. It is also associated with an increased risk of some types of cancer, including endometrial cancer. Cowden syndrome is one of the disorders caused by a fault in the PTEN gene.

The PTEN gene is involved in controlling the way in which cells divide and grow. If the PTEN gene is not working properly, cells can grow and divide in an uncontrolled way. This includes cells in the uterus. Uncontrolled growth of cells in the uterus and can lead to development of endometrial cancer.