Recognition of genetic syndromes in families with suspected hereditary colon cancer syndromes  Noralane M Lindor  Clinical Gastroenterology and Hepatology  Volume 2, Issue 5, Pages 366-375 (May 2004) DOI: 10.1016/S1542-3565(04)00120-X

Figure 1 Diagram of HNPCC cascade testing and clinical translation of test results. 1HNPCC is defined here as that disorder due to inherited defect of DNA mismatch repair gene, which can be detected as an MSI-high tumor phenotype or as loss of expression of one of the mismatch repair gene protein products by IHC. 2To date, in families with proven HNPCC/Lynch syndrome, mutations in hMLH1 and hMSH2 account for more than 90%, with rare families having mutation in hMSH6, and even rarer families with mutations in hPMS2. Mutations in hMLH1 and hMSH2 are consistently associated with tumors with MSI-high phenotype. Mutations in hMSH6 and hPMS2 are not as consistent in their tumor MSI phenotype. Families with hMSH2 mutations might have more extracolonic cancers than families with hMLH1, so one could make an educated guess as to which gene to test first, if the laboratory will allow sequential testing. 3Published guidelines for clinical management of HNPCC found in Burke et al.3 Clinical Gastroenterology and Hepatology 2004 2, 366-375DOI: (10.1016/S1542-3565(04)00120-X)

Figure 2 Diagnostic considerations for individuals with suspected hereditary predisposition to colorectal cancers. Clinical Gastroenterology and Hepatology 2004 2, 366-375DOI: (10.1016/S1542-3565(04)00120-X)