The first comprehensive database of germline pathogenic variants in East Asian cancer patients

Xiaoshun Shi; Ruidong Li; Jianxue Zhai; Allen Menglin Chen; Kailing Huang; Zhouxia Zheng; Zhuona Chen; Xiaoyin Dong; Xiguang Liu; Di Lu; Siyang Feng; Dingwei Diao; Pengfei Ren; Zhaoguo Liu; Grant Morahan; Kaican Cai

doi:10.1093/database/baab075

The first comprehensive database of germline pathogenic variants in East Asian cancer patients

Xiaoshun Shi, Ruidong Li, Jianxue Zhai, Allen Menglin Chen, Kailing Huang, Zhouxia Zheng, Zhuona Chen, Xiaoyin Dong, Xiguang Liu, Di Lu, Siyang Feng, Dingwei Diao, Pengfei Ren, Zhaoguo Liu, Grant Morahan, Kaican Cai

Research output: Contribution to journal › Article › peer-review

Abstract

Pathogenic germline variants in cancer-associated genes are risk factors for cancer predisposition. However, systematic mining and summarizing of cancer pathogenic or likely pathogenic variants has not been performed for people of East Asian descent. This study aimed to investigate publicly available data to identify germline variants in East Asian cancer cohorts and compare them to variants in Caucasian cancer cohorts. Based on the data we retrieved, we built a comprehensive database, named COGVIC (Catalog of Germline Variants in Cancer). A total of 233 variants in the East Asian population were identified. The majority (87%) of genes with cancer-associated variants were not shared between the East Asian and Caucasian cohorts. This included pathogenic variants in BRCA2. Our study summarized the prevalence of germline variants in East Asian cancer cohorts and provides an easy-to-use online tool to explore germline mutations related to cancer susceptibility. DATABASE URL: http://www.cogvic.vip/.

Original language	English
Article number	baab075
Journal	Database : the journal of biological databases and curation
Volume	2021
Issue number	2021
DOIs	https://doi.org/10.1093/database/baab075
Publication status	Published - 29 Dec 2021

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10.1093/database/baab075

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Shi, X., Li, R., Zhai, J., Chen, A. M., Huang, K., Zheng, Z., Chen, Z., Dong, X., Liu, X., Lu, D., Feng, S., Diao, D., Ren, P., Liu, Z., Morahan, G., & Cai, K. (2021). The first comprehensive database of germline pathogenic variants in East Asian cancer patients. Database : the journal of biological databases and curation, 2021(2021), Article baab075. https://doi.org/10.1093/database/baab075

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title = "The first comprehensive database of germline pathogenic variants in East Asian cancer patients",

abstract = "Pathogenic germline variants in cancer-associated genes are risk factors for cancer predisposition. However, systematic mining and summarizing of cancer pathogenic or likely pathogenic variants has not been performed for people of East Asian descent. This study aimed to investigate publicly available data to identify germline variants in East Asian cancer cohorts and compare them to variants in Caucasian cancer cohorts. Based on the data we retrieved, we built a comprehensive database, named COGVIC (Catalog of Germline Variants in Cancer). A total of 233 variants in the East Asian population were identified. The majority (87%) of genes with cancer-associated variants were not shared between the East Asian and Caucasian cohorts. This included pathogenic variants in BRCA2. Our study summarized the prevalence of germline variants in East Asian cancer cohorts and provides an easy-to-use online tool to explore germline mutations related to cancer susceptibility. DATABASE URL: http://www.cogvic.vip/.",

author = "Xiaoshun Shi and Ruidong Li and Jianxue Zhai and Chen, {Allen Menglin} and Kailing Huang and Zhouxia Zheng and Zhuona Chen and Xiaoyin Dong and Xiguang Liu and Di Lu and Siyang Feng and Dingwei Diao and Pengfei Ren and Zhaoguo Liu and Grant Morahan and Kaican Cai",

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year = "2021",

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doi = "10.1093/database/baab075",

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Shi, X, Li, R, Zhai, J, Chen, AM, Huang, K, Zheng, Z, Chen, Z, Dong, X, Liu, X, Lu, D, Feng, S, Diao, D, Ren, P, Liu, Z, Morahan, G & Cai, K 2021, 'The first comprehensive database of germline pathogenic variants in East Asian cancer patients', Database : the journal of biological databases and curation, vol. 2021, no. 2021, baab075. https://doi.org/10.1093/database/baab075

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T1 - The first comprehensive database of germline pathogenic variants in East Asian cancer patients

AU - Shi, Xiaoshun

AU - Li, Ruidong

AU - Zhai, Jianxue

AU - Chen, Allen Menglin

AU - Huang, Kailing

AU - Zheng, Zhouxia

AU - Chen, Zhuona

AU - Dong, Xiaoyin

AU - Liu, Xiguang

AU - Lu, Di

AU - Feng, Siyang

AU - Diao, Dingwei

AU - Ren, Pengfei

AU - Liu, Zhaoguo

AU - Morahan, Grant

AU - Cai, Kaican

PY - 2021/12/29

Y1 - 2021/12/29

N2 - Pathogenic germline variants in cancer-associated genes are risk factors for cancer predisposition. However, systematic mining and summarizing of cancer pathogenic or likely pathogenic variants has not been performed for people of East Asian descent. This study aimed to investigate publicly available data to identify germline variants in East Asian cancer cohorts and compare them to variants in Caucasian cancer cohorts. Based on the data we retrieved, we built a comprehensive database, named COGVIC (Catalog of Germline Variants in Cancer). A total of 233 variants in the East Asian population were identified. The majority (87%) of genes with cancer-associated variants were not shared between the East Asian and Caucasian cohorts. This included pathogenic variants in BRCA2. Our study summarized the prevalence of germline variants in East Asian cancer cohorts and provides an easy-to-use online tool to explore germline mutations related to cancer susceptibility. DATABASE URL: http://www.cogvic.vip/.

AB - Pathogenic germline variants in cancer-associated genes are risk factors for cancer predisposition. However, systematic mining and summarizing of cancer pathogenic or likely pathogenic variants has not been performed for people of East Asian descent. This study aimed to investigate publicly available data to identify germline variants in East Asian cancer cohorts and compare them to variants in Caucasian cancer cohorts. Based on the data we retrieved, we built a comprehensive database, named COGVIC (Catalog of Germline Variants in Cancer). A total of 233 variants in the East Asian population were identified. The majority (87%) of genes with cancer-associated variants were not shared between the East Asian and Caucasian cohorts. This included pathogenic variants in BRCA2. Our study summarized the prevalence of germline variants in East Asian cancer cohorts and provides an easy-to-use online tool to explore germline mutations related to cancer susceptibility. DATABASE URL: http://www.cogvic.vip/.

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The first comprehensive database of germline pathogenic variants in East Asian cancer patients

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Genomic analyses of cancer susceptibility genes

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