Early-age-at-onset XXXX and microsatellite instability as markers of @entity14 .

@entity1 @entity6756 @entity2198 @entity72635 @entity5 @entity4311 @entity72634 @entity14 @entity72633
PURPOSE: Early-age-at-onset @entity14 and microsatellite instability are characteristic features of @entity14 . Our aim was therefore to investigate whether these features might be useful markers in screening for @entity14 and mismatch repair gene mutations. METHODS: From 1,132 consecutive @entity1 who underwent surgery for @entity14 at our department between 1980 and 1999, we selected all @entity1 40 years of age or younger (study group, n = 59) and a subset of @entity1 40 years of age or older (control group, n = 60) who were matched for gender and pathologic TNM stage. @entity1 for whom a complete family @entity5 history or microsatellite status was unavailable were excluded from the study. @entity5 histories, retrieved from archival charts, were reassessed. Microsatellite status was investigated with the five microsatellites from the Bethesda recommended panel (BAT-26, BAT-25, D2S123, D5S346, and D17S250). On the basis of the number of altered microsatellites (> or = 2, 1, or 0), @entity5 were considered as having high or low instability or microsatellite stability, respectively. Mutation analysis for @entity6756 and @entity4311 genes was performed only in cases of high instability. DNA was investigated for mutations by single-strand conformational polymorphism and sequencing analysis. RESULTS: Data from 95 @entity1 (study group: n = 37, 18 males, mean age 35 years; control group: n = 58, 29 males, mean age 62 years) were available for analysis. Four @entity1 (study group, n = 3; control group, n = 1) fulfilled the Amsterdam II criteria for @entity14 . Of the 37 study group @entity5 , 12 (32.4 percent) showed @entity2198 instability, and 25 had microsatellite stability, whereas among the 58 control group @entity5 , 4 (7 percent) showed @entity2198 instability, and 54 had microsatellite stability (P < 0.002). Mismatch repair gene mutation analysis was performed in 12 cases (study group, n = 7; control group, n = 5). We found four mutations ( @entity4311 @entity72633 , @entity6756 ex9 @entity72634 , @entity4311 @entity72635 , and @entity6756 del0.8 Kb) in the study group @entity1 and none in the control group. Of four @entity14 @entity1 who underwent mismatch repair gene mutation analysis, one had a mutation. CONCLUSIONS: Early-age-at-onset @entity14 is significantly correlated with @entity2198 status and is a useful criterion to identify @entity14 @entity1 . Moreover, when used in association with @entity2198 instability status, it is effective in selecting @entity1 for mismatch repair gene mutation analysis.
