Analysis of polymorphisms in genes associated with the FA/BRCA pathway in three patients with multiple primary malignant neoplasms
Cases of more than three primary cancers are very rare. This study analyzed the genetic susceptibility of gene polymorphisms in three patients with multiple primary malignant neoplasms and examined the possible pathogenesis. The clinical data and whole genome sequence of three patients (1 with 5 pri...
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| Format: | Article |
| Language: | English |
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Taylor & Francis Group
2019-12-01
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| Series: | Artificial Cells, Nanomedicine, and Biotechnology |
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| Online Access: | https://www.tandfonline.com/doi/10.1080/21691401.2019.1575846 |
| _version_ | 1818140724243202048 |
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| author | Le Wang Hao Wang Ting Wang Jinhui Liu Wei Chen Yamin Wang Chao Chen Hongli Zhu Penggao Dai |
| author_facet | Le Wang Hao Wang Ting Wang Jinhui Liu Wei Chen Yamin Wang Chao Chen Hongli Zhu Penggao Dai |
| author_sort | Le Wang |
| collection | DOAJ |
| description | Cases of more than three primary cancers are very rare. This study analyzed the genetic susceptibility of gene polymorphisms in three patients with multiple primary malignant neoplasms and examined the possible pathogenesis. The clinical data and whole genome sequence of three patients (1 with 5 primary cancers, 1 with 4 primary cancers, and 1 with 3 primary cancers) were aligned with a series of databases. We found the three patients contained a total of seven types of malignant tumours (endometrial cancer, ovarian cancer, breast cancer, colon cancer, ureter cancer, bladder cancer and kidney cancer). It was found that the varied genes in Patient 1 (5 primary cancers) were BRIP1, FANCG, NBN, AXIN2, SRD5A2, and CEBPA. Patient 2 (4 primary cancers) had variations in the following genes: BMPR1A, FANCD2, MLH3, BRCA2, and FANCM. Patient 3 (3 primary cancers) had variations in the following genes: MEN1, ATM, MSH3, BRCA1, FANCL, CEBPA, and FANCA. String software was used to analyze the KEGG pathway of the variations in these three samples, which revealed that the genes are involved in the Fanconi anaemia pathway. Defects in DNA damage repair may be one of the causes of multiple primary cancers. |
| first_indexed | 2024-12-11T10:48:32Z |
| format | Article |
| id | doaj.art-910bb70ce4464d6ba454722df2b25c63 |
| institution | Directory Open Access Journal |
| issn | 2169-1401 2169-141X |
| language | English |
| last_indexed | 2024-12-11T10:48:32Z |
| publishDate | 2019-12-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Artificial Cells, Nanomedicine, and Biotechnology |
| spelling | doaj.art-910bb70ce4464d6ba454722df2b25c632022-12-22T01:10:25ZengTaylor & Francis GroupArtificial Cells, Nanomedicine, and Biotechnology2169-14012169-141X2019-12-014711101111210.1080/21691401.2019.1575846Analysis of polymorphisms in genes associated with the FA/BRCA pathway in three patients with multiple primary malignant neoplasmsLe Wang0Hao Wang1Ting Wang2Jinhui Liu3Wei Chen4Yamin Wang5Chao Chen6Hongli Zhu7Penggao Dai8The National Engineering Research Center for Miniaturized Detection Systems, The College of Life Sciences, Northwest University, Xi'an, PR ChinaThe National Engineering Research Center for Miniaturized Detection Systems, The College of Life Sciences, Northwest University, Xi'an, PR ChinaFaculty of Pharmacy, School of Food and Biological Engineering, Shaanxi University of Science and Technology, Xi’an, PR ChinaCollege of Medical Technology, Shanxi University of Chinese Medicine, Xianyang, PR ChinaMedical Affairs Department, Zhongyuan Union Clinical Laborotory Co. Ltd, Tianjin, PR ChinaThe National Engineering Research Center for Miniaturized Detection Systems, The College of Life Sciences, Northwest University, Xi'an, PR ChinaThe National Engineering Research Center for Miniaturized Detection Systems, The College of Life Sciences, Northwest University, Xi'an, PR ChinaThe National Engineering Research Center for Miniaturized Detection Systems, The College of Life Sciences, Northwest University, Xi'an, PR ChinaThe National Engineering Research Center for Miniaturized Detection Systems, The College of Life Sciences, Northwest University, Xi'an, PR ChinaCases of more than three primary cancers are very rare. This study analyzed the genetic susceptibility of gene polymorphisms in three patients with multiple primary malignant neoplasms and examined the possible pathogenesis. The clinical data and whole genome sequence of three patients (1 with 5 primary cancers, 1 with 4 primary cancers, and 1 with 3 primary cancers) were aligned with a series of databases. We found the three patients contained a total of seven types of malignant tumours (endometrial cancer, ovarian cancer, breast cancer, colon cancer, ureter cancer, bladder cancer and kidney cancer). It was found that the varied genes in Patient 1 (5 primary cancers) were BRIP1, FANCG, NBN, AXIN2, SRD5A2, and CEBPA. Patient 2 (4 primary cancers) had variations in the following genes: BMPR1A, FANCD2, MLH3, BRCA2, and FANCM. Patient 3 (3 primary cancers) had variations in the following genes: MEN1, ATM, MSH3, BRCA1, FANCL, CEBPA, and FANCA. String software was used to analyze the KEGG pathway of the variations in these three samples, which revealed that the genes are involved in the Fanconi anaemia pathway. Defects in DNA damage repair may be one of the causes of multiple primary cancers.https://www.tandfonline.com/doi/10.1080/21691401.2019.1575846Multiple primary malignant neoplasmsgene polymorphismssecond-generation whole-genome sequencing technologyFA/BRCA pathwayDNA damage repair |
| spellingShingle | Le Wang Hao Wang Ting Wang Jinhui Liu Wei Chen Yamin Wang Chao Chen Hongli Zhu Penggao Dai Analysis of polymorphisms in genes associated with the FA/BRCA pathway in three patients with multiple primary malignant neoplasms Artificial Cells, Nanomedicine, and Biotechnology Multiple primary malignant neoplasms gene polymorphisms second-generation whole-genome sequencing technology FA/BRCA pathway DNA damage repair |
| title | Analysis of polymorphisms in genes associated with the FA/BRCA pathway in three patients with multiple primary malignant neoplasms |
| title_full | Analysis of polymorphisms in genes associated with the FA/BRCA pathway in three patients with multiple primary malignant neoplasms |
| title_fullStr | Analysis of polymorphisms in genes associated with the FA/BRCA pathway in three patients with multiple primary malignant neoplasms |
| title_full_unstemmed | Analysis of polymorphisms in genes associated with the FA/BRCA pathway in three patients with multiple primary malignant neoplasms |
| title_short | Analysis of polymorphisms in genes associated with the FA/BRCA pathway in three patients with multiple primary malignant neoplasms |
| title_sort | analysis of polymorphisms in genes associated with the fa brca pathway in three patients with multiple primary malignant neoplasms |
| topic | Multiple primary malignant neoplasms gene polymorphisms second-generation whole-genome sequencing technology FA/BRCA pathway DNA damage repair |
| url | https://www.tandfonline.com/doi/10.1080/21691401.2019.1575846 |
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