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Wnt基因家族的遗传改变及其与头颈部鳞状细胞癌的潜在关联。

Genetic alterations in Wnt family of genes and their putative association with head and neck squamous cell carcinoma.

作者信息

Aditya Jain, Smiline Girija A S, Paramasivam A, Vijayashree Priyadharsini J

机构信息

Department of Microbiology, Saveetha Dental College, Saveetha Institute of Medical and Technical Sciences (SIMATS), Saveetha University, Chennai 600077, India.

Biomedical Research Unit and Laboratory Animal Centre-Dental Research Cell, Saveetha Dental College, Saveetha Institute of Medical and Technical Sciences (SIMATS), Saveetha University, Chennai 600077, India.

出版信息

Genomics Inform. 2021 Mar;19(1):e5. doi: 10.5808/gi.20065. Epub 2021 Mar 26.

Abstract

Head and neck squamous cell carcinoma (HNSCC) is the most frequent type of head and neck cancer that usually arises from the mucosal surfaces of several organs including nasal cavity, paranasal sinuses, oral cavity, tongue, pharynx, and larynx. The Wnt signaling pathway is a crucial mechanism for cellular maintenance and development. It regulates cell cycle progression, apoptosis, proliferation, migration, and differentiation. Dysregulation of this pathway correlates with oncogenesis in various tissues including breast, colon, pancreatic as well as head and neck cancers. The present study aims to assess the gene alterations in the Wnt family of genes so as to derive an association with HNSCC. Computational approaches have been utilized for the identification of gene alterations in the Wnt family of genes. Several databases such as cBioportal, STRING, and UALCAN were used for the purpose. The frequency of alteration was high in case of Wnt family member 11 (5%). Gene amplification, deep deletions, missense and truncating mutations were observed in HNSCC patients. There was a marked difference in the gene expression profile of WNT11 between grades as well as normal samples. The survival probability measured using the Kaplan-Meier curve also presented with a significant difference among male and female subjects experiencing a low/medium level expression. The female patients showed less survival probability when compared to the male subjects. This provides the prognostic significance of the WNT11 gene in HNSCC. Taken together, the present study provides clues on the possible association of WNT11 gene alterations with HNSCC, which has to be further validated using experimental approaches.

摘要

头颈部鳞状细胞癌(HNSCC)是头颈部最常见的癌症类型,通常起源于包括鼻腔、鼻窦、口腔、舌头、咽部和喉部在内的多个器官的黏膜表面。Wnt信号通路是细胞维持和发育的关键机制。它调节细胞周期进程、凋亡、增殖、迁移和分化。该通路的失调与包括乳腺癌、结肠癌、胰腺癌以及头颈部癌在内的各种组织的肿瘤发生相关。本研究旨在评估Wnt基因家族中的基因改变,以便得出其与HNSCC的关联。已采用计算方法来识别Wnt基因家族中的基因改变。为此使用了几个数据库,如cBioportal、STRING和UALCAN。Wnt家族成员11的改变频率较高(5%)。在HNSCC患者中观察到基因扩增、深度缺失、错义突变和截断突变。WNT11在不同分级以及正常样本之间的基因表达谱存在显著差异。使用Kaplan-Meier曲线测量的生存概率在低/中等水平表达的男性和女性受试者之间也存在显著差异。与男性受试者相比,女性患者的生存概率较低。这提供了WNT11基因在HNSCC中的预后意义。综上所述,本研究为WNT11基因改变与HNSCC的可能关联提供了线索,这有待使用实验方法进一步验证。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2425/8042306/b64c916bd083/gi-20065f1.jpg

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