Comprehensive analysis of serum tumor markers and BRCA1/2 germline mutations in Chinese ovarian cancer patients
Abstract Background The serum tumor markers has been widely used in ovarian cancer diagnosis. BRCA1/2 germline mutations are the most common predisposing factors for ovarian cancer development. This study aimed to comprehensively investigate serum tumor markers and BRCA1/2 germline mutations and ana...
| Main Authors: | , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2019-06-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.672 |
| _version_ | 1819037768851914752 |
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| author | Hongyu Deng Ming Chen Xinwu Guo Jianfu Heng Xunxun Xu Limin Peng Hui Jiang Guoli Li Julia X. Day Jinliang Li Dongyong Shan Yinghua Li Yanjie Zhou Bin Liu Lizhong Dai Xiaochun Wang Jun Wang |
| author_facet | Hongyu Deng Ming Chen Xinwu Guo Jianfu Heng Xunxun Xu Limin Peng Hui Jiang Guoli Li Julia X. Day Jinliang Li Dongyong Shan Yinghua Li Yanjie Zhou Bin Liu Lizhong Dai Xiaochun Wang Jun Wang |
| author_sort | Hongyu Deng |
| collection | DOAJ |
| description | Abstract Background The serum tumor markers has been widely used in ovarian cancer diagnosis. BRCA1/2 germline mutations are the most common predisposing factors for ovarian cancer development. This study aimed to comprehensively investigate serum tumor markers and BRCA1/2 germline mutations and analyze their associations with ovarian cancer. Methods Levels of 11 serum tumor markers were examined in ovarian cancer patients and controls with benign gynecologic diseases. By integrating multiplex PCR and next‐generation sequencing technologies, BRCA1/2 germline mutations were analyzed and confirmed by Sanger sequencing. The discriminative models with serum tumor markers and BRCA1/2 mutation status were constructed for ovarian cancer detection and patient stratification. Results Among 11 markers, six of them were significantly elevated and only beta‐human chorionic gonadotropin (β‐HCG) was significantly reduced in ovarian cancer patients. A total of 54 (23.3%) ovarian cancer patients were found to harbor BRCA1/2 deleterious mutations, and BRCA1/2 mutations were significantly associated with Hereditary Breast and Ovarian Cancer‐related tumors and family history of cancer. Carbohydrate antigen 125 showed a good performance in ovarian cancer detection as a single marker (AUC = 0.799), while a panel of eight markers showed a good performance in BRCA1 mutation detection with an AUC value of 0.974. In addition, a panel of five serum tumor markers combined with BRCA1/2 mutation status showed a good performance in lymph node metastasis prediction (AUC = 0.843). Conclusions We found the association between BRCA1/2 germline mutation status and serum tumor marker levels, and identified discriminative models that combined serum tumor markers with BRCA1/2 mutation status for ovarian cancer detection and patient stratification. |
| first_indexed | 2024-12-21T08:26:40Z |
| format | Article |
| id | doaj.art-9febb45bec8e4281b01c4e3539e78a6a |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-12-21T08:26:40Z |
| publishDate | 2019-06-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-9febb45bec8e4281b01c4e3539e78a6a2022-12-21T19:10:19ZengWileyMolecular Genetics & Genomic Medicine2324-92692019-06-0176n/an/a10.1002/mgg3.672Comprehensive analysis of serum tumor markers and BRCA1/2 germline mutations in Chinese ovarian cancer patientsHongyu Deng0Ming Chen1Xinwu Guo2Jianfu Heng3Xunxun Xu4Limin Peng5Hui Jiang6Guoli Li7Julia X. Day8Jinliang Li9Dongyong Shan10Yinghua Li11Yanjie Zhou12Bin Liu13Lizhong Dai14Xiaochun Wang15Jun Wang16Department of Laboratory Medicine, Xiangya School of Medicine Central South University Changsha ChinaSanway Gene Technology Inc. Changsha ChinaSanway Gene Technology Inc. Changsha ChinaHunan Cancer Hospital & The Affiliated Cancer Hospital of Xiangya School of Medicine Central South University Changsha ChinaSanway Gene Technology Inc. Changsha ChinaSanway Gene Technology Inc. Changsha ChinaSchool of Life Sciences Central South University Changsha ChinaSchool of Life Sciences Central South University Changsha ChinaSanway Gene Technology Inc. Changsha ChinaSchool of Life Sciences Central South University Changsha ChinaDepartment of Oncology The Third Xiangya Hospital of Central South University Changsha ChinaHunan Cancer Hospital & The Affiliated Cancer Hospital of Xiangya School of Medicine Central South University Changsha ChinaHunan Cancer Hospital & The Affiliated Cancer Hospital of Xiangya School of Medicine Central South University Changsha ChinaDepartment of Obstetrics and Gynecology Dalian Municipal Central Hospital Affiliated to Dalian Medical University Dalian ChinaSanway Gene Technology Inc. Changsha ChinaDepartment of Laboratory Medicine, Xiangya School of Medicine Central South University Changsha ChinaSchool of Life Sciences Central South University Changsha ChinaAbstract Background The serum tumor markers has been widely used in ovarian cancer diagnosis. BRCA1/2 germline mutations are the most common predisposing factors for ovarian cancer development. This study aimed to comprehensively investigate serum tumor markers and BRCA1/2 germline mutations and analyze their associations with ovarian cancer. Methods Levels of 11 serum tumor markers were examined in ovarian cancer patients and controls with benign gynecologic diseases. By integrating multiplex PCR and next‐generation sequencing technologies, BRCA1/2 germline mutations were analyzed and confirmed by Sanger sequencing. The discriminative models with serum tumor markers and BRCA1/2 mutation status were constructed for ovarian cancer detection and patient stratification. Results Among 11 markers, six of them were significantly elevated and only beta‐human chorionic gonadotropin (β‐HCG) was significantly reduced in ovarian cancer patients. A total of 54 (23.3%) ovarian cancer patients were found to harbor BRCA1/2 deleterious mutations, and BRCA1/2 mutations were significantly associated with Hereditary Breast and Ovarian Cancer‐related tumors and family history of cancer. Carbohydrate antigen 125 showed a good performance in ovarian cancer detection as a single marker (AUC = 0.799), while a panel of eight markers showed a good performance in BRCA1 mutation detection with an AUC value of 0.974. In addition, a panel of five serum tumor markers combined with BRCA1/2 mutation status showed a good performance in lymph node metastasis prediction (AUC = 0.843). Conclusions We found the association between BRCA1/2 germline mutation status and serum tumor marker levels, and identified discriminative models that combined serum tumor markers with BRCA1/2 mutation status for ovarian cancer detection and patient stratification.https://doi.org/10.1002/mgg3.672BRCA1/2 mutationnext‐generation sequencingovarian cancerserum tumor markers |
| spellingShingle | Hongyu Deng Ming Chen Xinwu Guo Jianfu Heng Xunxun Xu Limin Peng Hui Jiang Guoli Li Julia X. Day Jinliang Li Dongyong Shan Yinghua Li Yanjie Zhou Bin Liu Lizhong Dai Xiaochun Wang Jun Wang Comprehensive analysis of serum tumor markers and BRCA1/2 germline mutations in Chinese ovarian cancer patients Molecular Genetics & Genomic Medicine BRCA1/2 mutation next‐generation sequencing ovarian cancer serum tumor markers |
| title | Comprehensive analysis of serum tumor markers and BRCA1/2 germline mutations in Chinese ovarian cancer patients |
| title_full | Comprehensive analysis of serum tumor markers and BRCA1/2 germline mutations in Chinese ovarian cancer patients |
| title_fullStr | Comprehensive analysis of serum tumor markers and BRCA1/2 germline mutations in Chinese ovarian cancer patients |
| title_full_unstemmed | Comprehensive analysis of serum tumor markers and BRCA1/2 germline mutations in Chinese ovarian cancer patients |
| title_short | Comprehensive analysis of serum tumor markers and BRCA1/2 germline mutations in Chinese ovarian cancer patients |
| title_sort | comprehensive analysis of serum tumor markers and brca1 2 germline mutations in chinese ovarian cancer patients |
| topic | BRCA1/2 mutation next‐generation sequencing ovarian cancer serum tumor markers |
| url | https://doi.org/10.1002/mgg3.672 |
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