Mutations and expressions of breast cancer 1/2 in lung cancer
Abstract Background Breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) tumor suppressor genes play crucial roles in DNA repair and regulation of transcription. Mutations in these genes are closely associated with the occurrence of cancers. However, the mutation status of BRCA gene in central south...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2023-06-01
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| Series: | Thoracic Cancer |
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| Online Access: | https://doi.org/10.1111/1759-7714.14920 |
| _version_ | 1797795317409644544 |
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| author | Bokang Yan Bin Xie Meiyuan Huang Jiaxing Guo Jingyue Sun Jielin Chen Yongguang Tao Desheng Xiao |
| author_facet | Bokang Yan Bin Xie Meiyuan Huang Jiaxing Guo Jingyue Sun Jielin Chen Yongguang Tao Desheng Xiao |
| author_sort | Bokang Yan |
| collection | DOAJ |
| description | Abstract Background Breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) tumor suppressor genes play crucial roles in DNA repair and regulation of transcription. Mutations in these genes are closely associated with the occurrence of cancers. However, the mutation status of BRCA gene in central south Chinese lung cancer patients remains unclear, and its expression levels in lung cancer also need to be further explored. Methods In this study, we use next‐generation sequencing (NGS) technology to analyze the BRCA genes mutations in 462 central south Chinese lung cancer patients. Public databases including cBioportal, Catalogue Of Somatic Mutations In Cancer (COSMIC), The Cancer Genome Atlas (TCGA), Human Protein Atlas (HPA) and Expression Profiling Interactive Analysis (GEPIA) are also applied to explore the expression level and mutation status of BRCA in lung cancer patients and their relationships with the prognosis. Results We found that the mutation rate of BRCA1/2 in central south Chinese lung cancer patients is 4.3% and 6.5% respectively, and missense mutations account for the majority in both BRCA1/2, which are similar to the international status of BRCA1/2 from public databases. In addition, 45 novel mutations of BRCA1/2 in lung cancer are reported in this study. Furthermore, we find that the BRCA2 mutations are negatively correlated with overall survival rate in lung cancer using cBioportal. Last, we demonstrate that both of the mRNA and protein levels of BRCA1/2 are upregulated in lung cancer, and the elevated mRNA expression levels are positively linked with poor prognosis. Conclusion In general, our study better complements knowledge of the BRCA1/2 mutation status in the Chinese lung cancer patients, and firstly reveals the association between BRCA1/2 expression levels and prognosis of lung cancer patients, which may provide great value for the early diagnosis and clinical treatment of lung cancer. |
| first_indexed | 2024-03-13T03:16:05Z |
| format | Article |
| id | doaj.art-6a5c70a335894556ac019039d33f7cc8 |
| institution | Directory Open Access Journal |
| issn | 1759-7706 1759-7714 |
| language | English |
| last_indexed | 2024-03-13T03:16:05Z |
| publishDate | 2023-06-01 |
| publisher | Wiley |
| record_format | Article |
| series | Thoracic Cancer |
| spelling | doaj.art-6a5c70a335894556ac019039d33f7cc82023-06-26T00:32:10ZengWileyThoracic Cancer1759-77061759-77142023-06-0114181753176310.1111/1759-7714.14920Mutations and expressions of breast cancer 1/2 in lung cancerBokang Yan0Bin Xie1Meiyuan Huang2Jiaxing Guo3Jingyue Sun4Jielin Chen5Yongguang Tao6Desheng Xiao7Department of Pathology, Zhuzhou Hospital Affiliated to Xiangya School of Medicine Central South University Zhuzhou ChinaDepartment of Pathology, Xiangya Hospital Central South University Changsha ChinaDepartment of Pathology, Zhuzhou Hospital Affiliated to Xiangya School of Medicine Central South University Zhuzhou ChinaDepartment of Hematology, Zhuzhou Hospital Affiliated to Xiangya School of Medicine Central South University Zhuzhou ChinaDepartment of Pathology, Xiangya Hospital Central South University Changsha ChinaDepartment of Pathology, Xiangya Hospital Central South University Changsha ChinaDepartment of Pathology, Xiangya Hospital Central South University Changsha ChinaDepartment of Pathology, Xiangya Hospital Central South University Changsha ChinaAbstract Background Breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) tumor suppressor genes play crucial roles in DNA repair and regulation of transcription. Mutations in these genes are closely associated with the occurrence of cancers. However, the mutation status of BRCA gene in central south Chinese lung cancer patients remains unclear, and its expression levels in lung cancer also need to be further explored. Methods In this study, we use next‐generation sequencing (NGS) technology to analyze the BRCA genes mutations in 462 central south Chinese lung cancer patients. Public databases including cBioportal, Catalogue Of Somatic Mutations In Cancer (COSMIC), The Cancer Genome Atlas (TCGA), Human Protein Atlas (HPA) and Expression Profiling Interactive Analysis (GEPIA) are also applied to explore the expression level and mutation status of BRCA in lung cancer patients and their relationships with the prognosis. Results We found that the mutation rate of BRCA1/2 in central south Chinese lung cancer patients is 4.3% and 6.5% respectively, and missense mutations account for the majority in both BRCA1/2, which are similar to the international status of BRCA1/2 from public databases. In addition, 45 novel mutations of BRCA1/2 in lung cancer are reported in this study. Furthermore, we find that the BRCA2 mutations are negatively correlated with overall survival rate in lung cancer using cBioportal. Last, we demonstrate that both of the mRNA and protein levels of BRCA1/2 are upregulated in lung cancer, and the elevated mRNA expression levels are positively linked with poor prognosis. Conclusion In general, our study better complements knowledge of the BRCA1/2 mutation status in the Chinese lung cancer patients, and firstly reveals the association between BRCA1/2 expression levels and prognosis of lung cancer patients, which may provide great value for the early diagnosis and clinical treatment of lung cancer.https://doi.org/10.1111/1759-7714.14920BRCAChinese lung cancer patientsexpressionmutation |
| spellingShingle | Bokang Yan Bin Xie Meiyuan Huang Jiaxing Guo Jingyue Sun Jielin Chen Yongguang Tao Desheng Xiao Mutations and expressions of breast cancer 1/2 in lung cancer Thoracic Cancer BRCA Chinese lung cancer patients expression mutation |
| title | Mutations and expressions of breast cancer 1/2 in lung cancer |
| title_full | Mutations and expressions of breast cancer 1/2 in lung cancer |
| title_fullStr | Mutations and expressions of breast cancer 1/2 in lung cancer |
| title_full_unstemmed | Mutations and expressions of breast cancer 1/2 in lung cancer |
| title_short | Mutations and expressions of breast cancer 1/2 in lung cancer |
| title_sort | mutations and expressions of breast cancer 1 2 in lung cancer |
| topic | BRCA Chinese lung cancer patients expression mutation |
| url | https://doi.org/10.1111/1759-7714.14920 |
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