Lynch Syndrome Mutations And Ec

Cederquist et al. (39) studied MSI-positive double primary CRC and EC in women of Lynch syndrome kindreds, and found that 14 of the 23 patients with both CRC and EC carried mutations of MLH1, MSH2, or MSH6 that likely affect protein function. Five of the mutations (36%) were in MLH1, three (21%) in MSH2, and six (43%) in MSH6. Families that carry MSH6 mutations have higher proportions of EC than those that carry MLH1 and MSH2 mutations. Ten out of 14 patients were diagnosed with cancer before 50 years of age. Carriers of MSH6 mutations had later mean ages for the diagnoses of both CRC and EC. The mean age of 58 years at which EC was diagnosed in MSH6 mutation carriers contrasted with the mean age of 48 years at which EC was diagnosed in MLH1 and MSH2 mutation carriers.

Mutation of MSH6 merits special attention when considering its role in the Lynch syndrome in general and EC in particular. Hendriks et al. (40) investigated the cumulative risk for cancer in a large series of MSH6 mutation carriers and compared them with MLH1 and MSH2 mutation carriers. This study found that, for female MSH6 mutation carriers, the cumulative risk of 71% by age 70 years for EC, exceeded the 30% cumulative risk for CRC by this age. Although, the risk for CRC was significantly lower in female MSH6 mutation carriers than in female MLH1 or MSH2 mutation carriers, the risk for EC was significantly higher (p = 0.02) in MSH6 carriers compared with carriers of MLH1 and MSH2 mutations.

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