Hereditary Uterine (Endometrial) Cancer - Lynch Syndrome

About 3% to 5% of colorectal cancers are believed to be caused by mutations in the MLH1MSH2MSH6PMS2, or EPCAM genes.40 When someone carries a mutation in any of these genes, they have a syndrome called Lynch syndrome. Lynch syndrome is also called Hereditary Non-polyposis Colorectal Cancer syndrome (HNPCC).

Myriad offers testing to determine whether a patient is a carrier of any one of these gene mutations.  When assessing the risk of carrying these mutations a patient’s personal and family history is collected to investigate the risk for Lynch syndrome. Once a patient is identified as being at increased risk for Lynch syndrome, genetic test results provide the most accurate means of cancer risk assessment for a patient.

People with Lynch syndrome are at higher risk of developing several different types of cancer, including:

  • Colorectal cancer
  • Uterine (Endometrial) cancer
  • Ovarian cancer
  • Stomach cancer
  • And rarely, urinary/renal, pelvis, biliary tract, small bowel, pancreas, and brain cancers
  • Some patients may also develop sebaceous adenomas, a non-cancerous tumor of an oil-producing gland

Colaris Increase Graph

Hereditary Cancer Testing for Uterine Cancer

The following questions can be asked to help determine whether someone has a higher risk for uterine cancer because of their own cancer history and their family's history.

Knowing the potential risk can help the healthcare provider and patient make better, more informed decisions about the patient’s health, before the onset of cancer or before a second cancer has a chance to develop. Testing should be considered for hereditary colon cancer if:

The Patient:

  • Has had colorectal or endometrial cancer before age 50
  • Has had MSI-high histology before age 60:


    • Mucinous
    • Signet ring
    • Tumor infiltrating lymphocytes
    • Crohn's-like lymphocytic reaction histology
    • Medullary growth pattern
  • Has had an abnormal MSI/IHC tumor test result (Colorectal/Endometrial)
  • Has had 2 or more Lynch syndrome cancers** at any age
  • Has had a Lynch syndrome cancer** with 1 or more relatives with a Lynch syndrome cancer**
  • Has a previously identified Lynch syndrome mutation in the family


The Patient’s Family:

  • Has had two or more relatives with a Lynch syndrome cancer**, one before the age of 50
  • Has had three or more relatives with a Lynch syndrome cancer** at any age
  • Has a previously identified Lynch syndrome mutation in the family

*Assessment criteria based on medical society guidelines.  For these individual medical society guidelines, go to

**Lynch-associated cancers include colon, endometrial, gastric, ovarian, ureter/renal pelvis, biliary tract, small bowel, pancreas, brain and sebaceous adenomas.

To help assess whether someone is a candidate for testing, they can take the Hereditary Cancer Quiz.  This quiz can help them get the information they need to discuss with their risk of cancer with their healthcare provider and ask for further evaluation. If someone matches any of the red flags above or takes the quiz and finds red flags in their own history or their family history, they may benefit from hereditary cancer testing.



COLARIS® testing assesses a person’s risk of developing hereditary colorectal cancer and a woman’s risk of developing hereditary uterine cancer. COLARISPLUS detects disease-causing mutations in the MLH1, MSH2, MSH6, PMS2EPCAM and MYH genes which are responsible for the majority of Lynch syndrome and MYH-associated polyposis (MAP) cases.


The results of COLARIS testing help healthcare providers and their patients make more informed healthcare decisions.  For example:

  • A patient who knows they carry a mutation associated with Lynch syndrome can start cancer screening at an earlier age. They can also choose options like risk-reducing medications and preventive surgery
  • Healthcare providers can help patients move forward with the right action plan for their particular risks
  • Patients already diagnosed with cancer may be able to prevent a second cancer
  • Test results can help relatives learn and understand more about inherited risk and how it may affect them

For more information about hereditary cancer testing, please visit:

For Physicians:

Myriad Pro genetic testing logo

For Patients:

My Support 360 hereditary cancer logo