Clinical significance of tumor microsatellite instability and immunohistochemistry for mismatch repair deficiency in colorectal cancers

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1 Citation (Scopus)

Abstract

Referrals to genetics services are becoming increasingly common for patients who are diagnosed with early-onset colorectal cancer (CRC) or patients who have a family history of CRC. Microsatellite instability (MSI) testing and immunohistochemical analysis (IHC) of the patient's tumor tissue, which assess indirectly the cellular status of DNA mismatch repair, have proven important tools for geneticists and genetic counselors to determine whether or not these individuals may be at risk for an inherited cancer syndrome, Lynch syndrome (a subset of hereditary nonpolyposis colorectal cancer). The application of tumor MSI/ IHC also extends to the group of providers involved in the diagnosis and management of CRC, demonstrating the growing clinical applicability of MSI/IHC testing. This review discusses the clinical utility of MSI/IHC analysis, including its benefits and limitations, and addresses some of the current debates surrounding testing.

Original languageEnglish (US)
Pages (from-to)103-109
Number of pages7
JournalCurrent Colorectal Cancer Reports
Volume1
Issue number2
DOIs
StatePublished - Sep 2005

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Microsatellite Instability
Colorectal Neoplasms
Immunohistochemistry
Hereditary Nonpolyposis Colorectal Neoplasms
Neoplasms
Genetic Services
DNA Mismatch Repair
Referral and Consultation
Turcot syndrome

ASJC Scopus subject areas

  • Oncology
  • Gastroenterology
  • Hepatology

Cite this

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abstract = "Referrals to genetics services are becoming increasingly common for patients who are diagnosed with early-onset colorectal cancer (CRC) or patients who have a family history of CRC. Microsatellite instability (MSI) testing and immunohistochemical analysis (IHC) of the patient's tumor tissue, which assess indirectly the cellular status of DNA mismatch repair, have proven important tools for geneticists and genetic counselors to determine whether or not these individuals may be at risk for an inherited cancer syndrome, Lynch syndrome (a subset of hereditary nonpolyposis colorectal cancer). The application of tumor MSI/ IHC also extends to the group of providers involved in the diagnosis and management of CRC, demonstrating the growing clinical applicability of MSI/IHC testing. This review discusses the clinical utility of MSI/IHC analysis, including its benefits and limitations, and addresses some of the current debates surrounding testing.",
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