PubMed_ArguminSci  

PubMed:15289847 JSONTXT 4 Projects

Annnotations TAB TSV DIC JSON TextAE

Id Subject Object Predicate Lexical cue
T1 159-252 DRI_Background denotes Hereditary non-polyposis colorectal cancer (HNPCC) represents 1-3% of all colorectal cancers.
T2 253-383 DRI_Background denotes HNPCC is caused by a constitutional defect in a mismatch repair (MMR) gene, most commonly affecting the genes MLH1, MSH2 and MSH6.
T3 384-528 DRI_Background denotes The MMR defect results in an increased cancer risk, with the greatest lifetime risk for colorectal cancer and other cancers associated to HNPCC.
T4 529-700 DRI_Background denotes The HNPCC-associated tumor phenotype is generally characterized by microsatellite instability (MSI) and immunohistochemical loss of expression of the affected MMR protein.
T5 701-853 DRI_Background denotes The aim of this study was to determine the sensitivity of IHC for MLH1, MSH2 and MSH6, and MSI analysis in tumors from known MMR gene mutation carriers.
T6 854-1076 DRI_Approach denotes Fifty-eight paired normal and tumor samples from HNPCC families enrolled in our high-risk colorectal cancer registry were studied for the presence of germline mutations in MLH1, MSH2 and MSH6 by DGGE and direct sequencing.
T7 1077-1148 DRI_Approach denotes MSI analysis and immunostaining for MLH1, MSH2 and MSH6 were evaluated.
T8 1149-1316 DRI_Background denotes Of the 28 patients with a real pathogenic mutation, loss of immunohistochemical expression for at least 1 of these MMR proteins was found, and all except 1 have MSI-H.
T9 1354-1560 DRI_Background denotes IHC analysis had a sensitivity of 100% in detecting MMR deficiency in carriers of a pathogenic MMR mutation, and can be used to predict which gene is expected to harbor the mutation for MLH1, MSH2 and MSH6.
T10 1561-1732 DRI_Approach denotes This study suggests that both analyses are useful for selecting high-risk patients because most MLH1, MSH2 and MSH6 gene carriers will be detected by this 2-step approach.
T11 1733-1865 DRI_Outcome denotes This practical method should have immediate application in the clinical work of patients with inherited colorectal cancer syndromes.