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Abstract：
The growing incidence of oropharyngeal squamous cell carcinoma (OPSCC) calls for better understanding of the mutational landscape of such cases. Mucins (MUCs) are multifunctional glycoproteins expressed by the epithelial cells and may be associated with the epithelial tumour invasion and progression. The present study aimed at the analysis of the sequence of selected MUC6 and MUC16 gene fragments in the tumour, as well as the margin, samples obtained from 18 OPSCC patients. Possible associations between the detected mutations and the clinicopathological and demographic characteristics of the study group were analysed. Sanger sequencing and bioinformatic data analysis of the selected MUC6 and MUC16 cDNA fragments were performed. Our study found 13 and 3 mutations in MUC6 and MUC16, respectively. In particular, one novelty variant found that the MUC6 gene (chr11:1018257 A>T) was the most frequent across our cohort, in both the tumour and the margin samples, and was then classified as a high impact, stop-gain mutation. The current study found novel mutations in MUC6 and MUC16 providing new insight into the genetic alternation in mucin genes among the OPSCC patients. Further studies, including larger cohorts, are recommended to recognise the pattern in which the mutations affect oropharyngeal carcinogenesis.
摘要：
口咽鳞状细胞癌（OPSCC）的发病率不断上升，需要更好地了解此类病例的突变情况。粘蛋白（MUC）是由上皮细胞表达的多功能糖蛋白，可能与上皮肿瘤的侵袭和进展有关。本研究旨在分析肿瘤中选定的MUC6和MUC16基因片段的序列，以及保证金，从18名OPSCC患者获得的样本。分析了检测到的突变与研究组的临床病理和人口统计学特征之间的可能关联。对所选MUC6和MUC16cDNA片段进行Sanger测序和生物信息学数据分析。我们的研究在MUC6和MUC16中分别发现了13和3个突变。特别是,一个新奇的变异发现MUC6基因(chr11:1018257A>T)是我们队列中最常见的基因，在肿瘤和边缘样本中，然后被归类为高影响力，停止增益突变。目前的研究发现MUC6和MUC16中的新突变为OPSCC患者中粘蛋白基因的遗传变化提供了新的见解。进一步研究,包括更大的队列，建议识别突变影响口咽癌变的模式。
