Application value of whole exome sequencing in screening and identifying novel mutations of hypopharyngeal cancer.

Yao, Jingwei; Ding, Yubo; Liu, Xiong; Huang, Jialu; Zhang, Minghui; Zhang, Yu; Lv, Yufan; Xie, Zhuoyi; Zuo, Jianhong

Yao, Jingwei; Ding, Yubo; Liu, Xiong; Huang, Jialu; Zhang, Minghui; Zhang, Yu; Lv, Yufan; Xie, Zhuoyi; Zuo, Jianhong.

Afiliación

Yao J; Gastroenterology Department, The Affiliated Nanhua Hospital of University of South China, Hengyang, 421001, Hunan, People's Republic of China.
Ding Y; Department of Hematology, The First Affiliated Hospital of Xiamen University and Institute of Hematology, School of Medicine, Xiamen University, Xiamen, 361003, People's Republic of China.
Liu X; Transformation Research Lab, Hunan Province Key Laboratory of Tumor Cellular and Molecular Pathology, Hengyang Medical School, University of South China, Hengyang, 421001, Hunan, People's Republic of China.
Huang J; Clinical Laboratory, The Third Affiliated Hospital of University of South China, Hengyang, 421000, Hunan, People's Republic of China.
Zhang M; Gastroenterology Department, The Affiliated Nanhua Hospital of University of South China, Hengyang, 421001, Hunan, People's Republic of China.
Zhang Y; Transformation Research Lab, Hunan Province Key Laboratory of Tumor Cellular and Molecular Pathology, Hengyang Medical School, University of South China, Hengyang, 421001, Hunan, People's Republic of China.
Lv Y; Department of Otolaryngology-Head and Neck Surgery, Nanfang Hospital, Southern Medical University, Guangzhou, 510515, People's Republic of China.
Xie Z; Transformation Research Lab, Hunan Province Key Laboratory of Tumor Cellular and Molecular Pathology, Hengyang Medical School, University of South China, Hengyang, 421001, Hunan, People's Republic of China.
Zuo J; Transformation Research Lab, Hunan Province Key Laboratory of Tumor Cellular and Molecular Pathology, Hengyang Medical School, University of South China, Hengyang, 421001, Hunan, People's Republic of China.

Sci Rep ; 13(1): 107, 2023 01 03.

Article en En | MEDLINE | ID: mdl-36596842

RESUMEN

The research on targeted therapy of hypopharyngeal cancer is very scarce. The discovery of new targeted driver genes will promote the progress of hypopharyngeal cancer therapy to a great extent. In our research, whole-exome sequencing in 10 patients with hypopharyngeal cancer was performed to identify single nucleotide variations (SNVs) and insertions and deletions (INDELs). American College of Medical Genetics and Genomics (ACMG) guidelines were used to evaluate the pathogenicity of the selected variants. 8113 mutation sites in 5326 genes were identified after strict screening. We identified 72 pathogenic mutations in 53 genes according to the ACMG guidelines. Gene Ontology (GO) annotation and KEGG enrichment analysis show the effect of these genes on cancer. Protein-protein interaction (PPI) was analyzed by string online software. The validation results of the ualcan database showed that 22 of the 53 genes may be related to the poor prognosis of patients with hypopharyngeal cancer. RBM20 has the most significant correlation with hypopharyngeal cancer, and it is likely to be the driver gene of hypopharyngeal cancer. In conclusion, we found possible therapeutic targets for hypopharyngeal cancer, especially RBM20 and KMT2C. Our study provides a basis for the pathogenesis and targeted therapy of hypopharyngeal cancer.

Asunto(s)

Neoplasias Hipofaríngeas; Humanos; Secuenciación del Exoma; Neoplasias Hipofaríngeas/genética; Detección Precoz del Cáncer; Mutación; Genómica

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias Hipofaríngeas Tipo de estudio: Diagnostic_studies / Guideline / Screening_studies Límite: Humans Idioma: En Revista: Sci Rep Año: 2023 Tipo del documento: Article Pais de publicación: Reino Unido

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