Diagnosis and management of DNA mismatch repair-deficient colorectal cancer

Hematol Oncol Clin North Am. 2015 Feb;29(1):29-41. doi: 10.1016/j.hoc.2014.09.008.


Colorectal tumors exhibiting defective DNA mismatch repair (MMR-D)/microsatellite instability (MSI-H) form a distinct subgroup of CRCs associated with important clinical and pathologic features. The identification of MMR-D/MSI-H may impact CRC prognosis, prediction of response to chemotherapeutic agents, and may necessitate the need for genetic assessment for Lynch syndrome. Oncologists remain at the forefront of diagnosing, treating, and managing patients with MMR-D/MSI-H CRC and ensuring that the clinical care of these patients reflect our evolving understanding of this unique CRC subtype.

Keywords: Colorectal cancer prognosis; Microsatellite instability; Mismatch repair deficiency.

Publication types

  • Review

MeSH terms

  • Adenoma / genetics
  • Animals
  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use
  • Carcinoma / genetics
  • Colorectal Neoplasms / diagnosis*
  • Colorectal Neoplasms / drug therapy
  • Colorectal Neoplasms / genetics*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / diagnosis
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics
  • DNA Mismatch Repair*
  • Disease Management
  • Early Detection of Cancer
  • Fluorouracil / administration & dosage
  • Humans
  • Microsatellite Instability
  • Prognosis


  • Fluorouracil