Analysis of somatic mutations and key driving factors of cervical cancer progression

We investigated the somatic mutations and key driving factors of cervical cancer by whole exome sequencing . We found 22,183 somatic single nucleotide variations (SNVs) in 52 paired samples. Somatic SNVs in cervical cancer were significantly higher than those in high-grade intraepithelial lesion and...

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Published in:	Open medicine (Warsaw, Poland) Vol. 18; no. 1; p. 20230759
Main Authors:	Niyazi, Mayinuer, Han, Lili, Husaiyin, Sulaiya, Aishanjiang, Ayimila, Guo, Min, Muhaimati, Gulibanu, Rozi, Hankez, Sun, Haiyan, Lu, Jing, Ma, Chunhua, Rouzi, Nuermangul, Liu, Xiaowan, Zhu, Kaichun
Format:	Journal Article
Language:	English
Published:	Poland De Gruyter 28-07-2023 Walter de Gruyter GmbH
Subjects:	Cervical cancer hla polymorphism HPV insertion/integration Human papillomavirus Mutation polymorphism somatic mutations WES somatic mutations HLA polymorphism WES HPV insertion/integration cervical cancer
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Summary:	We investigated the somatic mutations and key driving factors of cervical cancer by whole exome sequencing . We found 22,183 somatic single nucleotide variations (SNVs) in 52 paired samples. Somatic SNVs in cervical cancer were significantly higher than those in high-grade intraepithelial lesion and low-grade squamous intraepithelial lesion groups ( < 0.05). C → T/G accounted for 44.12% of base substitution. Copy number variation (false discovery rate < 0.05) was found in 57 chromosome regions. The three regions with significant differences between cervical cancer and non-cervical cancer groups were 1q21.1, 3q26.33, and 13q33.1, covering genes related to tumor proliferation, differentiation, and apoptosis. The frequency of human papillomavirus (HPV) insertion/integration and the number of “ ” mutations in the cervical cancer group were significantly higher than those in the non-cervical cancer group ( < 0.05). The total number of mutations was positively correlated with the number of “ ” mutations ( = 0.7967). HPV insertion/integration (OR = 2.302, CI = 1.523–3.589, = 0.0005), enrichment (OR = 17.875, CI = 2.117–150.937, = 0.001), and in (OR = 6.435, CI = 0.823–48.919, = 0.0042) were risk factors for cervical cancer, while in was a protective factor (OR = 0.426, CI = 0.197–0.910, = 0.032). Conclusively, HPV insertion/integration, mutagenesis, and polymorphisms are high-risk factors for cervical cancer and may be causes of genome instability and somatic mutations. This study provides experimental data for revealing the molecular mechanism of cervical cancer.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 Equal contributors.
ISSN:	2391-5463 2391-5463
DOI:	10.1515/med-2023-0759