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There are three main mechanisms by which colorectal cancer develops. The first, and most common, is chromosomal instability (CIN), which is the consequence of the loss of function of APC. The gene that codes for APC is called APC, an important tumor suppressor gene and the first driver gene whose function is lost in the progression from normal colorectal epithelium to cancer. The second mechanism is microsatellite instability (MSI), which is the consequence of loss of function of DNA mismatch repair, and the third is the CpG Island Methylator Phenotype (CIMP), due to hypermethylation of gene promoters and associated with pathogenic variants in BRAF. The nature and significance of DNA mismatch repair to colorectal cancer is discussed in this chapter.

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Testing of Tumors for the Presence of DNA Mismatch Repair Is Becoming Routine in Many Hospitals, but Why? What Is Mismatch Repair, and What Is Its Relevance to Patient Care?

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  • 发表日期：

    2025年

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  • James M. Church

摘要

There are three main mechanisms by which colorectal cancer develops. The first, and most common, is chromosomal instability (CIN), which is the consequence of the loss of function of APC. The gene that codes for APC is called APC, an important tumor suppressor gene and the first driver gene whose function is lost in the progression from normal colorectal epithelium to cancer. The second mechanism is microsatellite instability (MSI), which is the consequence of loss of function of DNA mismatch repair, and the third is the CpG Island Methylator Phenotype (CIMP), due to hypermethylation of gene promoters and associated with pathogenic variants in BRAF. The nature and significance of DNA mismatch repair to colorectal cancer is discussed in this chapter.