The value of microsatellite instability in the detection of @entity14 families and of sporadic XXXX with special biological features: an investigation on a series of 100 consecutive cases.

@entity1 @entity124 @entity3079 @entity5 @entity14
BACKGROUND: @entity124 ( @entity124 ) is a biological characteristic of most @entity5 involved in @entity14 ( @entity14 ). This disease appears to be caused by germline mutations in mismatch repair (MMR) genes, which are responsible for repairing single base-pair mismatches. At least five @entity1 genes participate in MMR. @entity124 also occurs in 10%-15% of sporadic @entity14 . Because @entity124 has been suggested as an alternative diagnostic tool for identification of @entity14 families, in this study we analyzed the @entity124 pattern in 100 consecutive @entity14 in order to correlate them with the clinicopathologic features and family histories of the @entity1 . @entity1 AND METHODS: A series of 100 @entity14 was evaluated for @entity124 with 10 polymerase chain reaction primer sets. Instability results were compared with family history and other clinical and biological characteristics. RESULTS: @entity124 was detected in 36 of 100 @entity5 , 27 of which showed low instability and nine a high instability. The low- and high-instability cases showed similar clinicopathological characteristics, and significantly positive associations were observed between @entity124 and mucinous histological type (P = 0.0001) and @entity124 and peritumoral lymphocytic infiltration (P = 0.01). A single @entity14 family was identified in the high-grade @entity124 group, while two families belonged to the @entity124 -negative group. CONCLUSIONS: Our data suggest that @entity124 screening is probably not an efficient strategy for identifying @entity14 cases. @entity124 does, however, appear capable of defining a category of @entity14 with favourable prognostic features and should be investigated at least in all cases of @entity3079 .
