Lynch syndrome is a hereditary cancer syndrome that increases a person’s risk of developing several different types of cancer, including endometrial (uterine) cancer. Myriad myRisk® Hereditary Cancer uses next-generation sequencing technology to identify patients who may be at an elevated risk of disease.

Lynch syndrome, also called Hereditary Non-polyposis Colorectal Cancer (HNPCC) syndrome, is a hereditary cancer syndrome that increases a person’s risk of developing several different types of cancer, including endometrial (uterine) and colorectal cancer. Lynch syndrome is linked to mutations in the MLH1, MSH2, EPCAM, MSH6 or  PMS2 genes.1

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

  • Ovarian (fallopian tube/peritoneal) cancer
  • Stomach cancer
  • In addition, rarely, urinary tract, renal/pelvis, biliary tract, small bowel, pancreatic, and brain cancers

Some people may also develop sebaceous adenomas, which are noncancerous tumors of an oil-producing gland of the skin.

risk of cancer in patients with lynch syndrome mutations

Assessing Your Risk for Lynch Syndrome

Myriad offers genetic testing to determine whether you are a carrier of any of the gene mutations associated with Lynch syndrome. In order to assess your risk of carrying these mutations, your healthcare professional may ask you questions about your personal and family medical history. If you are identified as being at increased risk for Lynch syndrome, genetic testing provides the most accurate means of determining your risk of developing cancer.

To help you assess whether you may be benefit from hereditary cancer genetic testing, take the Myriad Hereditary Cancer Quiz. This quiz can help you get the information you need to discuss your risk of cancer with your healthcare professional and ask for further evaluation.

Take the Hereditary Cancer Quiz

Risk Factors for Lynch Syndrome

Knowing your potential risk for Lynch syndrome can help you and your healthcare professional make better, more informed decisions about your health, before the onset of cancer or before a second cancer has had a chance to develop. Genetic testing for hereditary endometrial (uterine) cancer with the Myriad myRisk® Hereditary Cancer test should be considered if:*

You have any of the following personal histories:

  • A first or second degree relative with endometrial (uterine) cancer or colorectal cancer before age 50
  • Abnormal tumor test results (colorectal/endometrial)
  • Two or more Lynch syndrome cancers** at any age
  • A Lynch syndrome cancer** at any age with one or more relatives also with a Lynch syndrome cancer**
  • A previously identified Lynch syndrome or MAP syndrome mutation in the family

You have any of the following family histories:

  • A first or second degree relative with colorectal or endometrial (uterine) cancer before the age of 50
  • Two or more relatives with a Lynch syndrome cancer,** one before the age of 50
  • Three or more relatives with a Lynch syndrome cancer** at any age
  • A previously identified Lynch syndrome or MAP syndrome mutation in the family

Using Hereditary Cancer Testing to Reduce Your Endometrial Cancer Risk

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

  • Increased surveillance for endometrial, colon and ovarian cancer, such as starting cancer screening at an earlier age or screening more frequently
  • Surgical management
  • Chemoprevention (risk-reducing medications)

*Assessment criteria are based on medical society guidelines.

**Lynch-associated cancers include colon, endometrial/uterine, gastric, ovarian, urinary tract, renal/pelvic, biliary tract, small bowel, pancreatic, brain and sebaceous adenomas. Cancer history should be on the same side of the family.

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.

References

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.