A state-wide population-based program for detection of XXXX based upon immunohistochemical and molecular testing of @entity14 .

@entity1 @entity6756 @entity124 @entity4309 @entity5 @entity4311 @entity14437 @entity8554 @entity14 @entity817 @entity4638
We have previously established in a large retrospective study that testing for @entity124 ( @entity124 ) in @entity14 ( @entity14 ) from @entity1 aged <60 years was an effective first screen to identify individuals with @entity4309 ( @entity4309 ). From these findings, @entity124 and/or immunohistochemical (IHC) screening was recommended for all newly diagnosed @entity14 @entity1 aged <60 years in Western Australia, regardless of family history of @entity5 . In the current study we evaluated the utility of routine @entity124 /IHC screening by diagnostic pathology laboratories for the detection of previously undiagnosed individuals and families with @entity4309 . From January 2009 to December 2010, 270 @entity5 were tested for @entity124 and for expression of @entity6756 , @entity14437 , @entity4311 and @entity4638 using IHC. Cases showing @entity124 and/or loss of expression were also tested for the @entity817 @entity8554 hotspot mutation. Seventy cases were found to have @entity124 , of which 25 were excluded from further investigation as possible @entity4309 cases due to presence of the @entity817 @entity8554 mutation. The remaining 45 "red flag" cases were eligible for germline testing based on their @entity124 , IHC and @entity817 status. From 31 cases tested to date, 15 germline mutations have been found. Thirteen were from individuals not previously recognized as @entity4309 and two were untested members from known @entity4309 families. Extrapolation of the mutation incidence (15/31, 48%) to all red flag cases (n = 45) suggests that approximately 22 mutation carriers exist in this cohort. This value approximates the number of @entity14 cases due to @entity4309 that could be expected to arise in the Western Australian population over a two-year period (n = 24), assuming that 1% of all CRCs are due to @entity4309 . Although further improvements in workflow can be made, our preliminary findings following the implementation of state-wide routine @entity124 and IHC testing in Western Australia indicate that the majority of @entity4309 cases are being identified.
