Hereditary Endometrial Cancer

What is endometrial cancer?

Endometrial cancer is the most common type of uterine (womb) cancer. The endometrium is another name for the lining of the uterus. 

How common is endometrial cancer?

The average risk for endometrial cancer is about 3%. This means that 1 out of 33 women will develop endometrial cancer at some point in their lifetime. Some women have a higher-than-average risk for endometrial cancer due to certain risk factors. 

Who is at risk for endometrial cancer?

Women (people assigned femal at birth) are at risk for endometrial cancer. The risk for each person varies based on multiple factors, including:

• age
• presence of an inherited mutation
• personal and family history of cancer
• other risk factors, such as hormone exposure and obesity

Is endometrial cancer genetic?

All endometrial cancers are caused by damage to genes in the cells of the uterus. Most of this damage happens during the course of a person's lifetime. When genes are damaged over the course of a person's lifetime, the gene changes are called somatic mutations.  

Some endometrial cancers are hereditary. These are caused by inherited mutations that are present at birth and increase the risk for endometrial cancer. Unlike somatic mutations, inherited mutations can be passed on from parents to their children. 

Are most endometrial cancers hereditary?

Most endometrial cancers are not hereditary. About 5-15% of people with endometrial cancer have an inherited mutation linked to cancer risk. Genetic counseling and testing can help people learn if they are at high risk for endometrial cancer. 

Which genes are linked to hereditary endometrial cancer?

The most common genes associated with hereditary endometrial cancer are the Lynch syndrome genes, EPCAM, MLH1, MSH2, MSH6 and PMS2. See the table below for a more complete list of genes that can increase the risk for endometrial cancer. 

What else affects endometrial cancer risk?

Diet, weight, exercise, hormone exposure, and medications like tamoxifen can affect endometrial cancer risk in the general population and in people at high risk for cancer. Researchers are studying how much these factors influence risk in people with inherited mutations.

What can people do to manage their endometrial cancer risk?

There are three main medical approaches to managing an increased endometrial cancer risk: 

• increased screening
• medications to lower risk
• risk-reducing surgery

Each of these options comes with benefits, costs and risks. Expert guidelines for endometrial cancer risk management are based on your level of risk.

How are hereditary endometrial cancers different?

Hereditary endometrial cancers are more likely to occur at a young age. They are also more likely to test positive for the biomarkers MSI-High or dMMR (also known as MMR-D). Endometrial cancers with these biomarkers are more common in people with Lynch syndrome.  You can learn more about treatment options for MSI-High and dMMR endometrial cancers here.