نتایج جستجو برای: ژن pms2
تعداد نتایج: 16271 فیلتر نتایج به سال:
سابقه و هدف: بیشتر سرطانهای کولون از پولیپ های خوش خیم منشاء می گیرند. با پیشرفت آهسته و مرحله به مرحله بافت شناسی پولیپ های آدنوماتوز و آدنوم serrated به آدنوکارسینوم و سرطان بدخیم تبدیل می شوند. تغییرات ژنتیکی و اپی ژنتیک با مراحل خاصی از پیشرفت پولیپ به آدنوکارسینوم و نیز تغییرات بافت شناسی در سرطان کولون ارتباط دارد. در این مطالعه، با استفاده از رنگ آمیزی immunohistochemistry (ihc) در پولیپ...
The human mismatch repair (MMR) proteins hMLH1 and hPMS2 function in MMR as a heterodimer. Cells lacking either protein have a strong mutator phenotype and display microsatellite instability, yet mutations in the hMLH1 gene account for approximately 50% of hereditary nonpolyposis colon cancer families, whereas hPMS2 mutations are substantially less frequent and less penetrant. Similarly, in the...
Dissecting DNA repair in adult high grade gliomas for patient stratification in the post-genomic era
Deregulation of multiple DNA repair pathways may contribute to aggressive biology and therapy resistance in gliomas. We evaluated transcript levels of 157 genes involved in DNA repair in an adult glioblastoma Test set (n=191) and validated in 'The Cancer Genome Atlas' (TCGA) cohort (n=508). A DNA repair prognostic index model was generated. Artificial neural network analysis (ANN) was conducted...
Germline mutations in PMS2 are associated with Lynch syndrome (LS), the most common known cause of hereditary colorectal cancer. Mutation detection in PMS2 has been difficult due to the presence of several pseudogenes, but a custom-designed long-range PCR strategy now allows adequate mutation detection. Many mutations are unique. However, some mutations are observed repeatedly across individual...
MutLα, a heterodimer consisting of MLH1 and PMS2, is key player in the DNA mismatch repair (MMR) system great importance to correct incorporation errors that occur during replication. Previously, we identified posttranslational phosphorylation at amino acid position serine 477 can switch off MMR activity vitro. We also found mutation prevented phosphorylation. Since involved numerous MMR-indepe...
Among hereditary colorectal cancer predisposing syndromes, Lynch syndrome (LS) caused by mutations in DNA mismatch repair genes MLH1, MSH2, MSH6 or PMS2 is the most common. Patients with LS have an increased risk of early onset colon and endometrial cancer, but also other tumors that generally have an earlier onset compared to the general population. However, age at first primary cancer varies ...
Mismatch repair (MMR) is important for repairing of nucleotide mismatches during DNA replication. Germline mutations in MMR genes are associated with hereditary non-polyposis colorectal cancer (HNPCC). Ovarian cancer occurs as part of the HNPCC phenotype, and so common variants in MMR genes are candidates for ovarian cancer susceptibility. We performed a large multicentre case-control study to ...
background: germline mutations in mmr genes are reported to be present in more than 70% of hnpcc cases. but, there is a paucity of data regarding the importance of defect of mmr system in the gastric cancer in general. so, in this study, we used ihc stain formlh1,msh2, pms2 andmsh6 to reveal profile ofmmr expression in patients with gastric cancer. materials and methods: this study was performe...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید