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表皮生长因子受体 (EGFR) 突变作为头颈部鳞状细胞癌 (HNSCC) 的生物标志物。

Epidermal growth factor receptor (EGFR) mutations as biomarker for head and neck squamous cell carcinomas (HNSCC).

机构信息

Genetics Department, Bhagwan Mahavir Medical Research Centre , Hyderabad, Andhra Pradesh , India .

出版信息

Biomarkers. 2014 May;19(3):198-206. doi: 10.3109/1354750X.2014.895852. Epub 2014 Apr 8.

Abstract

CONTEXT

Mutations in tyrosine kinase domain (TK) of epidermal growth factor receptor (EGFR) lead to signalling interruptions in several cancers.

OBJECTIVE

To understand EGFR mutations in head and neck squamous cell carcinomas (HNSCC), and their role as biomarkers.

METHODS

Screened 129 HNSCC patients and 150 controls for mutations in the TK domain using polymerase chain reaction (PCR), single strand confirmatory polymorphism (SSCP) and sequencing.

RESULTS

81.39% of HNSCC had four mutations: G2155C, G2176A, C2188G and G2471A among these two mutations were also reported in other cancers where as two novel mutations are being reported for the first time in HNSCC. Mutational frequency was significantly associated with an advanced stage of HNSCC, habits of tobacco/alcohol and ages above 49 years.

CONCLUSION

EGFR single nucleotide polymorphisms could be useful biomarkers of HNSCC.

摘要

背景

表皮生长因子受体(EGFR)酪氨酸激酶结构域(TK)的突变导致多种癌症的信号中断。

目的

了解头颈部鳞状细胞癌(HNSCC)中的 EGFR 突变及其作为生物标志物的作用。

方法

使用聚合酶链反应(PCR)、单链构象多态性(SSCP)和测序筛查 129 例 HNSCC 患者和 150 例对照者 TK 结构域的突变。

结果

81.39%的 HNSCC 有四种突变:G2155C、G2176A、C2188G 和 G2471A,其中两种突变也在其他癌症中报道,而两种新的突变则是首次在 HNSCC 中报道。突变频率与 HNSCC 的晚期、吸烟/饮酒习惯和年龄超过 49 岁显著相关。

结论

EGFR 单核苷酸多态性可能是 HNSCC 的有用生物标志物。

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