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Sequencing Analysis of <i>MUC6</i> and <i>MUC16</i> Gene Fragments in Patients with Oropharyngeal Squamous Cell Carcinoma Reveals Novel Mutations: A Preliminary Study
oleh: Jadwiga Gaździcka, Krzysztof Biernacki, Silvia Salatino, Karolina Gołąbek, Dorota Hudy, Agata Świętek, Katarzyna Miśkiewicz-Orczyk, Anna Koniewska, Maciej Misiołek, Joanna Katarzyna Strzelczyk
| Format: | Article |
|---|---|
| Diterbitkan: | MDPI AG 2023-07-01 |
Deskripsi
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 <i>MUC6</i> and <i>MUC16</i> 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 <i>MUC6</i> and <i>MUC16</i> cDNA fragments were performed. Our study found 13 and 3 mutations in <i>MUC6</i> and <i>MUC16</i>, respectively. In particular, one novelty variant found that the <i>MUC6</i> 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 <i>MUC6</i> and <i>MUC16</i> 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.