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

التفاصيل البيبلوغرافية
العنوان: Analysis of somatic mutations and key driving factors of cervical cancer progression
المؤلفون: 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
المصدر: Open Medicine, Vol 18, Iss 1, Pp 363-85 (2023)
بيانات النشر: De Gruyter, 2023.
سنة النشر: 2023
المجموعة: LCC:Medicine
مصطلحات موضوعية: cervical cancer, wes, hla polymorphism, hpv insertion/integration, somatic mutations, Medicine
الوصف: 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 (P < 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 “tCw” mutations in the cervical cancer group were significantly higher than those in the non-cervical cancer group (P < 0.05). The total number of mutations was positively correlated with the number of “tCw” mutations (R 2 = 0.7967). HPV insertion/integration (OR = 2.302, CI = 1.523–3.589, P = 0.0005), APOBEC enrichment (OR = 17.875, CI = 2.117–150.937, P = 0.001), and HLA-B*39 in HLA-I (OR = 6.435, CI = 0.823–48.919, P = 0.0042) were risk factors for cervical cancer, while HLA-DQB1*05 in HLA-II was a protective factor (OR = 0.426, CI = 0.197–0.910, P = 0.032). Conclusively, HPV insertion/integration, APOBEC mutagenesis, and HLA 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.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 2391-5463
Relation: https://doaj.org/toc/2391-5463
DOI: 10.1515/med-2023-0759
URL الوصول: https://doaj.org/article/b165969c01f2415897a4c4dc6046ea36
رقم الانضمام: edsdoj.b165969c01f2415897a4c4dc6046ea36
قاعدة البيانات: Directory of Open Access Journals
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