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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Lynch syndrome


Other Names for this Disease

  • COCA1
  • Colon cancer, familial nonpolyposis
  • Colorectal cancer, hereditary nonpolyposis
  • Familial nonpolyposis colon cancer
  • Hereditary nonpolyposis colorectal cancer
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Your Question

I have an MLH1 mutation and therefore have Lynch Syndrome. I keep reading about Lynch Syndrome I (LSI) and Lynch Syndrome II (LSII). Are these distinctions still used?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Is the distinction between Lynch Syndrome I and Lynch Syndrome II still used?

Lynch syndrome is an inherited condition that increases the chance to develop certain types of cancers (a cancer predisposition syndrome).  In the past, this condition was divided into two subtypes: Lynch syndrome 1 referred to a condition that increased the chance of developing colon cancer only and Lynch syndrome 2 referred to a condition that increased the chance of developing cancers other than colon cancer, such as cancers of the uterus, stomach, biliary tract and pancreas, and urinary tract.[1]  However, it is now known that both Lynch syndrome 1 and Lynch syndrome 2 are caused by mutations in the same genes (MLH1MSH2MSH6PMS2, and EPCAM).[2]  Because the underlying genetic cause is similar for both subtypes, they are now referred to as one condition, "Lynch syndrome".
Last updated: 5/27/2014

References
Other Names for this Disease
  • COCA1
  • Colon cancer, familial nonpolyposis
  • Colorectal cancer, hereditary nonpolyposis
  • Familial nonpolyposis colon cancer
  • Hereditary nonpolyposis colorectal cancer
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.