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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 300-500 people. Inherited mutations in the MLH1, MSH2, MSH6, PMS2 genes, or certain mutations in the EPCAM gene, are associated with Lynch syndrome

People with an inherited mutation in a gene associated with Lynch syndrome have an increased risk for the following cancers:

  • colorectal
  • endometrial

The exact risks for each gene differ. People with mutations in MLH1, MSH2, MSH6 and EPCAM may also have an increased risk for the following cancers: 

  • ovarian
  • gastric  
  • urinary tract 
  • small bowel 

People with an MLH1 mutation are also at increased risk for pancreatic cancer.

Men with MSH2 mutation are at increased risk for prostate cancer. Men with an MLH1 mutation may also be at increased 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 03/06/2020

FORCE:Facing Our Risk of Cancer Empowered