Abstract
Background/aims:The identification of Lynch syndrome is hampered by the absence of specific diagnostic features and underutilisation of genetic testing. Prediction models have therefore been developed, but they have not been...
Highlights
Lynch syndrome, known as hereditary non-polyposis colorectal cancer, is the most common form of hereditary colorectal cancer (CRC)
Performing microsatellite instability (MSI) and IHC in CRC cases selected by the pathologists has been proposed as a diagnostic strategy by some authors[9, 15, 16], while others propose fulfilment of Bethesda guidelines (BG) followed by MSI and IHC analysis as a more effective strategy.[10]
In this study we found adequate discriminative ability of five different mutation prediction models for Lynch syndrome using clinical data of 321 index probands with suspicion of Lynch syndrome
Summary
Known as hereditary non-polyposis colorectal cancer, is the most common form of hereditary colorectal cancer (CRC). Molecular screening by MSI testing and IHC staining of proteins has a higher sensitivity compared to the AC II and BG [5,6,7,8,9,10,11] but MSI with absent staining of MLH1 and PMS2 is present in 15% of sporadic CRC cases.[12,13,14] MSI and IHC analysis can only be performed when tumour tissue is available. Mutation prediction models are potentially useful in clinical practice to optimise the identification of Lynch syndrome carriers, but the performances of these models have not been evaluated other than in similar settings as where they were developed.
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