نتایج جستجو برای: pms2
تعداد نتایج: 505 فیلتر نتایج به سال:
BACKGROUND Microsatellite instability (MSI) operates as the second major pathway in the colorectal carcinogenesis. Although genetic testing remains the gold standard for the detection of MSI, the College of American Pathologists (CAP) recommends an initial immunohistochemical workup with a four-antibody panel (MLH1, PMS2, MSH2, and MSH6) to screen for a defective mismatch repair system. An incr...
BACKGROUND Lynch syndrome is caused by inherited mutations in DNA mismatch repair genes (primarily MSH2, MLH1, MSH6, and PMS2) and is one of the most prevalent inherited cancer syndromes. Several models have been developed to predict the occurrence of Lynch syndrome in high-risk patients and families, but it is not known how these models compare with one another or how they perform for colorect...
University of Connecticut 1.1 Abstract . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1-1 1.2 Introduction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1-1 1.3 Algorithms for Planted Motif Search . . . . . . . . . . . . . . . 1-2 A Probabilistic Analysis • The WINNOWER and SP-STAR Algorithms • Pattern Br...
Background Lynch syndrome (LS) is responsible for around 2-3% of all colorectal cancers [1]. Germline mutations within one of four mismatch repair (MMR) genes, MLH1, MSH2, MSH6, or PMS2, cause an increased risk in colorectal, endometrial, urinary tract, and other cancers. Tumor screening, by microsatellite instability (MSI) and immunohistochemistry (IHC) analysis, can be utilized prior to mutat...
Background Literature on the ethics of returning research-generated genetic results to research participants has not reported on the practical experience of this activity. The Colon Cancer Family Registry (Colon CFR) has recruited participants from the US, Canada, Australia and New Zealand. Colon CFR-wide molecular testing has identified deleterious germline mutations in a DNA mismatch repair (...
Mutations in human DNA mismatch repair (MMR) genes are commonly associated with hereditary nonpolyposis colorectal cancer (HNPCC). MLH1 protein heterodimerizes with PMS2, PMS1, and MLH3 to form MutLα, MutLβ, and MutLγ, respectively. We reported recently stable expression of GFP-linked MLH3 in human cell lines. Monitoring these cell lines during the cell cycle using live cell imaging combined wi...
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