Article
Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.
PloS one - 1 Jan 2013
De Lellis Laura, Aceto Gitana Maria, Curia Maria Cristina, Catalano Teresa, Mammarella Sandra, Veschi Serena, Fantini Fabiana, Battista Pasquale, Stigliano Vittoria, Messerini Luca, Mareni Cristina, Sala Paola, Bertario Lucio, Radice Paolo, Cama Alessandro
Abstract excerpt
The identification of germline variants predisposing to hereditary nonpolyposis colorectal cancer (HNPCC) is crucial for clinical management of carriers, but several probands remain negative for such variants or bear variants of uncertain significance (VUS). Here we describe the results of integrative molecular analyses in 132 HNPCC patients providing evidences for improved genetic testing of HNPCC with...
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