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Genes Associated with Hereditary Cancers

Learn about genes and cancer, signs of hereditary cancer, genetic counseling, types of genetic tests and what results mean for you and your family.

Lynch syndrome (MLH1, MSH2, MSH6, PMS2, or EPCAM)

Lynch syndrome (also sometimes called hereditary nonpolyposis colorectal cancer, or HNPCC) is hereditary and affects 1 in 500-1,000 people. Inherited mutations in the MLH1, MSH2, MSH6, PMS2 genes, or certain mutations in the EPCAM gene, are associated with Lynch syndrome

Increased cancer risks associated with Lynch syndrome include:

  • colon (30-75% lifetime risk)
  • uterine (30-45% lifetime risk)
  • ovarian cancers (6-14% lifetime risk)
  • gastric  (1-13% lifetime risk)
  • urinary tract  (2-11% lifetime risk)
  • small bowel (1-7% lifetime risk)
  • central nervous system (1-4% lifetime risk)
  • pancreatic (elevated risk)

The exact increase in risk for each cancer depends upon which of the Lynch syndrome-associated genes mutations runs in the family, and recommendations for surveillance and risk reduction should be tailored to the gene involved.  Which Lynch syndrome mutations may be associated with an increased risk of breast cancer remains unclear. Research in this area is ongoing. 

Clinical guidelines have been established for managing cancer risk in people with Lynch syndrome.  Management options depend upon the specific inherited mutation that is associated with Lynch syndrome. FORCE recommends consulting with a genetics expert to understand your exact risk and risk management options.

Updated 06/14/2018

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