Tumor suppressor genes (TSGs) are genes whose protein products function in the control of cellular proliferation. In contrast to oncogenes, which are activated in cancer, TSGs are functionally inactivated in cancer. In general, TSGs are characterized by loss-offunction mutations in human tumors. These loss-of-fuunction mutations can be missense mutations that alter critical amino acid residues, mutations that cause premature protein truncation resulting in the loss of functional domains or unstable products, or deletion of the entire gene. Loss-of-function mutations are often accompanied by loss of heterozygosity (LOH) at the TSG locus; LOH can be detected by comparing the pattern of a polymorphic DNA marker in tumor versus normal DNA (see Chapter 1).
KeywordsTumor Suppressor Gene Mismatch Repair Clear Cell Renal Carcinoma Mismatch Repair Gene Single Base Mismatch
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