Mismatch repair gene mutations (Lynch syndrome)

A A
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 a mismatch repair (MMR) gene, known as Lynch syndrome, is associated with an increased risk of endometrial cancer.

The size of the risk of developing endometrial cancer in someone with Lynch syndrome depends on which MMR gene is affected. Overall, about 1 in 3 women with Lynch syndrome will develop endometrial cancer.

Lynch syndrome is an inherited condition that increases a person’s risk of developing certain types of cancer. When a person has Lynch syndrome, it means that one or more genes involved in repairing DNA does not work properly. The genes involved in Lynch syndrome are called ‘mismatch repair (MMR) genes’. There are four of these genes: MLH1, MSH2, MSH6, and PMS2. Lynch syndrome can occur when any one of these genes is faulty.

When MMR genes do not work properly, DNA damage can build up in cells of the body, including cells in the uterus. If the DNA damage is not repaired, the cells can start to grow and divide in an uncontrolled way. This can lead to cancer, including endometrial cancer.

Further information can be found at: