UseCases_ArguminSci_Discourse  

PubMed:17054581 JSONTXT 8 Projects

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Id Subject Object Predicate Lexical cue
T1 0-147 DRI_Background denotes Microsatellite instability and novel mismatch repair gene mutations in northern Chinese population with hereditary non-polyposis colorectal cancer.
T2 159-303 DRI_Background denotes Hereditary non-polyposis colorectal cancer (HNPCC) syndrome is the most common cause of hereditary colorectal cancer with an early age of onset.
T3 304-525 DRI_Challenge denotes Microsatellite instability (MSI) and germline mutation in one of the DNA mismatch repair (MMR) genes are found in the majority of HNPCC families and provide an opportunity for genetic diagnosis and prophylactic screening.
T4 526-673 DRI_Background denotes The MMR gene mutation spectrum may vary across different populations and be influenced by founder mutations that prevail in specific ethnic groups.
T5 674-823 DRI_Background denotes China is a big and ancient nation with enormous genetic diversity, which is especially notable between the northern and southern Chinese populations.
T6 824-940 DRI_Background denotes A MMR gene mutation database for the southern Chinese population based in Hong Kong has been previously established.
T7 941-1067 DRI_Background denotes This study compares the MMR gene mutation spectrum and the MSI of HNPCC between the northern and southern Chinese populations.
T8 1077-1153 DRI_Unspecified denotes Twenty-five HNPCC families from northern China were systematically analyzed.
T9 1154-1334 DRI_Approach denotes The MSI analysis was performed using five loci in the USA National Cancer Institute (NCI) panel (D2S123, D5S346, BAT-25, BAT-26 and BAT-40) by PCR from the tumor and normal tissue.
T10 1335-1405 DRI_Background denotes MSH2, MSH6 and MLH1 were performed using immunohistochemical staining.
T11 1406-1601 DRI_Background denotes Two founder mutations of MSH2 and MLH1 were examined by PCR base analyses using primers flanking the two deletion sites (c.1452_1455delAATG in MSH2 and 1.8 kb deletion involving exon 11 of MLH1).
T12 1611-1690 DRI_Unspecified denotes Of the 25 families collected, 19 met Bethesda guideline (BG) 1 and six met BG3.
T13 1691-1811 DRI_Background denotes Twenty-two (15.7%) were extra-colonic cancers with gastric cancer (in seven patients) being the most common cancer type.
T14 1812-1947 DRI_Outcome denotes Of the 25 tumors analyzed, 21 (84%) were high level microsatellite instability (MSI-H) and four (16%) were microsatellite stable (MSS).
T15 1948-2037 DRI_Background denotes Eighteen (86%) of the 21 MSI-H tumors showed loss of either the MLH1 or the MSH2 protein.
T16 2038-2136 DRI_Outcome denotes Three MSI-H tumors and all four MSS tumors showed no loss of expression of the three MMR proteins.
T17 2137-2264 DRI_Approach denotes Out of the 21 patients with MSI-H tumors, 12 (57%) showed pathogenic germline mutations in either MLH1 (n = 8) or MSH2 (n = 4).
T18 2265-2348 DRI_Approach denotes Overall, three novel mutations (in patients H22, H17 and H29) have been identified.
T19 2349-2421 DRI_Approach denotes One of them, c.503_4insA, caused a frameshift mutation in the MLH1 gene.
T20 2422-2564 DRI_Approach denotes The other two were found in the MSH2 gene, including a frameshift (c.899_890insAT) and a splice junction (IVS7-1G-->A, SA of Exon 8) mutation.
T21 2578-2858 DRI_Background denotes The results suggest a distinctly different mutation spectrum of MMR genes between northern and southern Chinese populations and call for a systematic, nationwide study to facilitate the design of a MMR gene mutation detection strategy tailored for individual populations in China.