Whole-exome sequencing to identify novel somatic mutations in squamous cell lung cancers
| العنوان: | Whole-exome sequencing to identify novel somatic mutations in squamous cell lung cancers |
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| المؤلفون: | Yi Xiang, Huan-Ying Wan, Rong-Xin Zhang, Zhaohui Gu, Bing Han, Cui-Xia Zheng, Xia Chen, Xia-Jun Rong, Qingyun Li, Chun-Ming Pan |
| المصدر: | International Journal of Oncology. 43:755-764 |
| بيانات النشر: | Spandidos Publications, 2013. |
| سنة النشر: | 2013 |
| مصطلحات موضوعية: | Adult, Male, Cancer Research, Lung Neoplasms, Carcinogenesis, Nonsense mutation, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Germline mutation, medicine, Humans, Missense mutation, Exome, Lung cancer, Exome sequencing, Aged, Aged, 80 and over, Genetics, Cancer, Sequence Analysis, DNA, Middle Aged, medicine.disease, Oncology, Mutation, Carcinoma, Squamous Cell, Female, RNA Splice Sites |
| الوصف: | Squamous cell lung cancer is a major histotype of non-small cell lung cancer (NSCLC) that is distinct from lung adenocarcinoma. We used whole-exome sequencing to identify novel non-synonymous somatic mutations in squamous cell lung cancer. We identified 101 single-nucleotide variants (SNVs) including 77 non-synonymous SNVs (67 missense and 10 nonsense mutations) and 11 INDELs causing frameshifts. We also found four SNVs located within splicing sites. We verified 62 of the SNVs (51 missense, 10 nonsense and 1 splicing-site mutation) and 10 of the INDELs as somatic mutations in lung cancer tissue. Sixteen of the mutated genes were also mutated in at least one patient with a different type of lung cancer in the Catalogue of Somatic Mutation in Cancer (COSMIC) database. Four genes (LPHN2, TP53, MYH2 and TGM2) were mutated in approximately 10% of the samples in the COSMIC database. We identified two missense mutations in C10orf137 and MS4A3 that also occurred in other solid-tumor tissues in the COSMIC database. We found another somatic mutation in EP300 that was mutated in 4.2% of the 2,020 solid-tumor samples in the COSMIC database. Taken together, our results implicate TP53, EP300, LPHN2, C10orf137, MYH2, TGM2 and MS4A3 as potential driver genes of squamous cell lung cancer. |
| تدمد: | 1791-2423 1019-6439 |
| DOI: | 10.3892/ijo.2013.1991 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::677703c9c603bf0b9cc043ac3fbf3a3d https://doi.org/10.3892/ijo.2013.1991 |
| Rights: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....677703c9c603bf0b9cc043ac3fbf3a3d |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 17912423 10196439 |
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| DOI: | 10.3892/ijo.2013.1991 |