Study on Genomic Changes in Mismatch Repair Deficient Tumors

Open to:

  • Age: 18 and older  
  • Healthy Volunteers: No 
  • Sex: Any 

Keywords: Colorectal cancer, mismatch repair deficient, DNA, genome rearrangements

Description:  In this study, researchers will analyze DNA from healthy tissue and pre-cancerous or cancerous polyps to compare genetic differences. This work aims to better understand the range of changes associated with defects in mismatch repair proteins, advance knowledge of mismatch repair–deficient tumors and potentially support the development of improved diagnostic tools and therapies for certain cancers, benefiting future patients. 

This Study Requires:  

  • Access to your medical records. 
  • Use of the remanent tissue collected during your colonoscopy or surgery that would normally be discarded as medical waste.  

Who Can Participate: 

  • Diagnosed with Lynch syndrome and undergoing routine colonoscopy; OR
  • Diagnosed with Lynch syndrome and undergoing colorectal surgery; OR
  • Undergoing colorectal surgery for a tumor that is mismatch repair (MMR) deficient

Benefits and Risks of Participating: 

  • Benefits: We cannot promise any benefit to you because of taking part in this research study. 
  • Risks: There are minimal risks. All specimens and data are collected during standard care, with no additional physical risk. A potential risk is loss of confidentiality, but safeguards such as sample anonymization and secure data access will be used to protect your information. 
  • Compensation: You will not be compensated for participating in this study. 

Contact and Additional Information:

  • Lead Contact: Diedre Reitz, Ph.D. (dfreitz@ucdavis.edu)
  • Phone: 916-469-5764 (call or text)
  • Patients are consented to the UC Davis Pathology Biorepository – Tissue, Blood, Urine And Other Biological Material (IRB 218204)
  • Study design, data collection, and data interpretation is overseen by Wolf-Dietrich Heyer, Ph.D. and Megan Dennis, Ph.D.
heyer lab lynch study flyerDownload