Somatic Mutations and Genetic Variants of NOTCH1 in Head and Neck Squamous Cell Carcinoma Occurrence and Development

doi:10.1038/srep24014

中山醫學大學機構典藏 CSMUIR > 醫學科技學院 > 生物醫學科學學系暨碩士班 > 期刊論文 > Item 310902500/19248

Please use this identifier to cite or link to this item: https://ir.csmu.edu.tw:8080/ir/handle/310902500/19248

Title:	Somatic Mutations and Genetic Variants of NOTCH1 in Head and Neck Squamous Cell Carcinoma Occurrence and Development
Authors:	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
Contributors:	中山醫學大學
Date:	2016-04
Issue Date:	2018-06-21T08:30:03Z (UTC)
Publisher:	Sci Rep
ISSN:	2045-2322
Abstract:	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
Relation:	Sci Rep. 2016 Apr 1;6:24014
Appears in Collections:	[生物醫學科學學系暨碩士班] 期刊論文

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