國家衛生研究院 NHRI:Item 3990099045/12293
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    題名: Patterns of germline and somatic mutations in 16 genes associated with mismatch repair function or containing tandem repeat sequences
    作者: Chang, SC;Lan, YT;Lin, PC;Yang, SH;Lin, CH;Liang, WY;Chen, WS;Jiang, JK;Lin, JK
    貢獻者: Institute of Molecular and Genomic Medicine
    摘要: BACKGROUND: We assumed that targeted next-generation sequencing (NGS) of mismatch repair-associated genes could improve the detection of driving mutations in colorectal cancers (CRC) with microsatellite instability (MSI) and microsatellite alterations at selected tetranucleotide repeats (EMAST) and clarify the somatic mutation patterns of CRC subtypes. MATERIAL AND METHODS: DNAs from tumors and white blood cells were obtained from 81 patients with EMAST(+)/MSI-high (MSI-H), 78 patients with EMAST(+)/microsatellite stable (MSS), and 72 patients with EMAST(-)/MSI-H. The germline and somatic mutations were analyzed with a 16-genes NGS panel. RESULTS: In total, 284 germline mutations were identified in 161 patients. The most common mutations were in EPCAM (24.8%), MSH6 (24.2%), MLH1 (21.7%), and AXIN2 (21.7%). Germline mutations of AXIN2, POLE, POLD1, and TGFBR2 also resulted in EMAST and MSI. EMAST(+)/MSI-H tumors had a significant higher mutation number (205.9 +/- 95.2 mut/MB) than tumors that were only EMAST(+) or MSI-H (118.6 +/- 64.2 and 106.2 +/- 54.5 mut/MB, respectively; both P < .001). In patients with AXIN2 germline mutations, the number of pathological somatic mutations in the tumors was significantly higher than those without AXIN2 germline mutations (176.7 +/- 94.2 mut/MB vs 139.6 +/- 85.0 mut/MB, P = .002). CONCLUSION: Next-generation sequencing could enhance the detection of familial CRC. The somatic mutation burden might result from not only the affected genes in germline mutations but also through the dysfunction of downstream effectors. The AXIN2 gene might associate with hypermutation in tumors. Further in vitro experiments to confirm the causal relationship is deserved.
    日期: 2020-01
    關聯: Cancer Medicine. 2020 Jan;9(2):476-486.
    Link to: http://dx.doi.org/10.1002/cam4.2702
    JIF/Ranking 2023: http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=NHRI&SrcApp=NHRI_IR&KeyISSN=2045-7634&DestApp=IC2JCR
    Cited Times(WOS): https://www.webofscience.com/wos/woscc/full-record/WOS:000498383700001
    Cited Times(Scopus): https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=85075517692
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