PMS2 Cancer Research

Types of Cancers and Level of Cancer Risk Among Individuals with PMS2 Mutations

A mutation in the PMS2 gene diagnoses an individual with Lynch syndrome. Individuals with Lynch syndrome are at an increased risk of developing several cancers, including colorectal, endometrial, ovarian, gastric, and small bowel. There are at least five genes (MLH1, MSH2, MSH6, PMS2, EPCAM) associated with Lynch syndrome. Although it is believed each gene places individuals at different risk levels for Lynch syndrome related cancers, screening guidelines are currently the same regardless of which gene has the mutation. Additionally, data suggests that individuals with Lynch syndrome may be at an increased risk to develop breast cancer. However, there is not enough data to make formal recommendations at this time. This is particularly true for the PMS2 gene, as it was not routinely analyzed until several years ago and less data is available.


We aim to help determine the cancers associated with a PMS2 mutation and an individual’s risk of developing such a cancer. Through a better understanding, we can help detect cancers early or even prevent them.


  • Informed Consent form
  • Initial Questionnaire
  • Follow-up questionnaires to gather updates to your personal and family history
  • Provide copies of your genetic test results and family tree (if applicable)


If you would like to participate in this PMS2 effort, please enroll in the Inherited Cancer Registry (ICARE) Initiative now by clicking the link below.

Enroll in ICARE now!

Please note if you are already an ICARE participant with a PMS2 mutation, we have already collected much of the information needed from you to contribute to this focused effort. We will inform you of any additional information that may be needed for study purposes.

For more information about ICARE and our focused research efforts, please fill out a participant contact form or contact the study team directly.
US: (615) 875-2444