National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Lynch syndrome



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?

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

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

Warm regards,
GARD Information Specialist

Please see our Disclaimer.


  1. McKusick, VA et al.. Lynch syndrome I. In: Hamosh, A. Online Mendelian Inheritance of Man. 2014; http://www.omim.org/entry/120435. Accessed 5/27/2014.
  2. Kohlmann W & Gruber S. Lynch syndrome. GeneReviews. May 22, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1211/.