中山醫學大學機構典藏 CSMUIR:Item 310902500/19248
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    题名: Somatic Mutations and Genetic Variants of NOTCH1 in Head and Neck Squamous Cell Carcinoma Occurrence and Development
    作者: YF, Liu
    SL, Chiang
    CY, Lin
    JG, Chang
    CM, Chung
    AM, Ko
    YZ, Lin
    CH, Lee
    KW, Lee
    MK, Chen
    CH, Hua
    MH, Tsai
    YC, Chen
    YC, Ko
    贡献者: 中山醫學大學
    日期: 2016-04
    上传时间: 2018-06-21T08:30:03Z (UTC)
    出版者: Sci Rep
    ISSN: 2045-2322
    摘要: A number of genetic variants have been associated with cancer occurrence, however it may be the acquired somatic mutations (SMs) that drive cancer development. This study investigates the potential SMs and related genetic variants associated with the occurrence and development of head and neck squamous cell carcinoma (HNSCC). We identified several SMs in NOTCH1 from whole-exome sequencing and validated them in a 13-year cohort of 128 HNSCC patients using a high-resolution melting analysis and resequencing. Patients who have NOTCH1 SMs show higher 5-year relapse-free recurrence (P = 0.0013) and lower survival proportion (P = 0.0447) when the risk-associated SMs were analysed by Cox proportional hazard models. Interestingly, the NOTCH1 gene rs139994842 that shares linkage with SMs is associated with HNSCC risk (OR = 3.46), increasing when SMs in NOTCH1 are involved (OR = 7.74), and furthermore when there are SMs in conjunction to betel quid chewing (OR = 32.11), which is a related independent environmental risk factor after adjusting for substances use (alcohol, betel quid, cigarettes) and age. The findings indicate that betel quid chewing is highly associated with NOTCH1 SMs (especially with changes in EGF-like domains), and that rs139994842 may potentially serve as an early predictive and prognostic biomarker for the occurrence and development of HNSCC.
    URI: http://dx.doi.org/10.1038/srep24014
    https://ir.csmu.edu.tw:8080/ir/handle/310902500/19248
    關聯: Sci Rep. 2016 Apr 1;6:24014
    显示于类别:[生物醫學科學學系暨碩士班] 期刊論文

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