Hereditary Endometrial Cancer

Lynch syndrome, also called Hereditary Non-polyposis Colorectal Cancer (HNPCC) syndrome, is a hereditary cancer syndrome that increases a patient’s risk of developing several different types of cancer, including endometrial and colorectal cancer. Lynch syndrome is linked to mutations in the MLH1MSH2, EPCAM, MSH6 or PMS2 genes.1

In addition to endometrial and colon cancer, patients with Lynch syndrome are also at higher risk of developing:

  • Ovarian cancer
  • Gastric cancer
  • In addition, rarely, urinary tract, renal/pelvis, biliary tract, small bowel, pancreatic, and brain cancers

Some patients with Lynch syndrome may also develop sebaceous adenomas, noncancerous tumors of the sebaceous glands.

Myriad offers genetic testing to determine whether a patient is a carrier of the MLH1, MSH2, MSH6, PMS2 or EPCAM gene mutations.

risk of cancer in patients with lynch syndrome mutations

Who Should Be Tested for Lynch Syndrome

If a patient’s personal and family history indicates that he/she may be at increased risk for Lynch syndrome, genetic test results provide the most accurate means of assessing that patient’s cancer risk. Knowing the potential risk can help you and your patient make better, more informed decisions about your patient’s health, before the onset of cancer or before a second cancer has had a chance to develop.

Genetic testing for Lynch syndrome should be considered for hereditary endometrial 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 (endometrial/colorectal)
  • Has had two or more Lynch syndrome cancers** at any age
  • Has had a Lynch syndrome cancer with one or more relatives also 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

You can use the Myriad Hereditary Cancer Quiz as a tool to help you identify patients who may benefit from hereditary cancer testing.

Get Your Custom Hereditary Cancer Quiz

Using the Results of Hereditary Cancer Testing to Reduce Endometrial Cancer Risk

If the Myriad MyRisk® Hereditary Cancer test confirms the presence of a MLH1, MSH2, MSH6 or PMS2 mutation, the following medical management options may help reduce cancer risk and either delay the onset of endometrial cancer or detect cancer at an earlier, more treatable stage:

  • Increased surveillance for endometrial, colon and ovarian cancer, including screenings at an earlier age and screening more frequently
  • Surgical management, such as prophylactic hysterectomy with bilateral salpingo-oophorectomy
  • Chemoprevention (risk-reducing medications)

medical management options for reducing colon cancer risk in lynch syndrome

Using Hereditary Cancer Testing Results to Improve Patient Care

Hereditary cancer gene panel testing results may assist you in developing personalized medical management plans that help to improve patient care by:

  • Maximizing clinical efficiency by targeting increased surveillance and other interventions to patients with an MLH1, MSH2, MSH6 or PMS2 mutation
  • Improving outcomes and reducing medical costs through earlier diagnosis and treatment
  • Counselling patients and their families on the underlying causes of the pattern of endometrial, colon and/or other cancers in their family and how this affects their cancer risk
  • Avoiding unnecessary interventions for family members who do not test positive for the mutation known to be in the family

*Assessment criteria are based on individual medical society guidelines.

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

Any discussion of medical management options is for general informational purposes only and does not constitute a recommendation. While genetic testing and medical society guidelines provide important and useful information, all medical management decisions should be made based on consultation between each patient and his or her healthcare professional.


1. Giardiello FM, et al. Guidelines on Genetic Evaluation and Management of Lynch Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer. Am J Gastroenterol. 2014 109:1159-79. PMID:25070057.

Paul Diaz at the 40th Annual J.P. Morgan Health Care Conference