Performance of clinical guidelines compared with molecular tumour screening methods in identifying possible Lynch syndrome among colorectal cancer patients: a Norwegian population-based study

作者: G Tranø , W Sjursen , HH Wasmuth , E Hofsli , LJ Vatten

DOI: 10.1038/SJ.BJC.6605509

关键词:

摘要: The aim of this study was to assess the performance Revised Bethesda Guidelines (RBG) and accuracy Amsterdam II criteria (AM II) in identifying possible Lynch syndrome (LS) compared with results molecular tumour testing. Tumours from 336 unselected colorectal cancer patients were analysed by three tests (namely microsatellite instability (MSI), BRAF mutation methylation mismatch-repair genes), classified according RBG AM criteria. A total 87 (25.9%) fulfilled for analyses (MSI and/or immunohistochemistry), identified 8 (2.4%) as having LS. Molecular 12 tumours (3.6%) probable 6 (sensitivity 50%), whereas 5 who not likely be LS, based on (predictive value positive test, 38%). Assuming a fairly high testing, LS poor, falsely large proportion This favours use testing diagnosis

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