نتایج جستجو برای: pms2
تعداد نتایج: 505 فیلتر نتایج به سال:
Microsatellite instability (MSI) has been reported in various tumors, with colon cancer as the prototype. However, little is known about MSI in Barrett esophagus (BE)-associated adenocarcinoma. Thus, the aim of this study was to compare the clinicopathologic and molecular features of BE-associated adenocarcinomas with and without MSI. The study cohort consisted of 76 patients with BE-associated...
Mutations in DNA MMR genes, mainly MSH2 and MLH1, are the most frequent cause of HNPCC, an autosomal dominant predisposition to colorectal cancer and other malignancies. In our study we tested 46 unrelated patients with suspected HNPCC, who met Bethesda criteria. Tumors from probands (when available) were tested by immunohistochemistry for deficiencies in MLH1, PMS2, MSH2 and MSH6. DNA samples ...
BACKGROUND Using immunohistochemistry (IHC) to select cases for mismatch repair (MMR) genetic testing, we failed to identify a large kindred with the deleterious PMS2 mutation c.989-1G > T. The purpose of the study was to examine the sensitivity of IHC and microsatellite instability-analysis (MSI) to identify carriers of the mutation, and to estimate its penetrance and expressions. METHODS Al...
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