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Genetics of Colorectal Cancer (PDQ®): Genetics - Health Professional Information [NCI] - Colon Cancer Genes

Table 2. Major Genes Associated with Risk of Colorectal Cancer continued...

Until the 1990s, the diagnosis of genetically inherited polyposis syndromes was based on clinical manifestations and family history. Now that some of the genes involved in these syndromes have been identified, a few studies have attempted to estimate the spontaneous mutation rate (de novo mutation rate) in these populations. Interestingly, FAP, JPS, PJS, Cowden syndrome, and BRRS are all thought to have high rates of spontaneous mutations, in the 25% to 30% range,[58,59,60] while estimates of de novo mutations in the MMR genes associated with LS are thought to be low, in the 0.9% to 5% range.[61,62,63] These estimates of spontaneous mutation rates in LS seem to overlap with the estimates of nonpaternity rates in various populations (0.6% to 3.3%),[64,65,66] making the de novo mutation rate for LS seem quite low in contrast to the relatively high rates in the other polyposis syndromes.


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Last Updated: February 25, 2014
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