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

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 availabl...

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Autores principales: Shi, Xiaoshun, Li, Ruidong, Zhai, Jianxue, Chen, Allen Menglin, Huang, Kailing, Zheng, Zhouxia, Chen, Zhuona, Dong, Xiaoyin, Liu, Xiguang, Lu, Di, Feng, Siyang, Diao, Dingwei, Ren, Pengfei, Liu, Zhaoguo, Morahan, Grant, Cai, Kaican
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8730286/
https://www.ncbi.nlm.nih.gov/pubmed/34964846
http://dx.doi.org/10.1093/database/baab075
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author Shi, Xiaoshun
Li, Ruidong
Zhai, Jianxue
Chen, Allen Menglin
Huang, Kailing
Zheng, Zhouxia
Chen, Zhuona
Dong, Xiaoyin
Liu, Xiguang
Lu, Di
Feng, Siyang
Diao, Dingwei
Ren, Pengfei
Liu, Zhaoguo
Morahan, Grant
Cai, Kaican
author_facet Shi, Xiaoshun
Li, Ruidong
Zhai, Jianxue
Chen, Allen Menglin
Huang, Kailing
Zheng, Zhouxia
Chen, Zhuona
Dong, Xiaoyin
Liu, Xiguang
Lu, Di
Feng, Siyang
Diao, Dingwei
Ren, Pengfei
Liu, Zhaoguo
Morahan, Grant
Cai, Kaican
author_sort Shi, Xiaoshun
collection PubMed
description 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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spelling pubmed-87302862022-01-06 The first comprehensive database of germline pathogenic variants in East Asian cancer patients Shi, Xiaoshun Li, Ruidong Zhai, Jianxue Chen, Allen Menglin Huang, Kailing Zheng, Zhouxia Chen, Zhuona Dong, Xiaoyin Liu, Xiguang Lu, Di Feng, Siyang Diao, Dingwei Ren, Pengfei Liu, Zhaoguo Morahan, Grant Cai, Kaican Database (Oxford) Original Article 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/ Oxford University Press 2021-12-29 /pmc/articles/PMC8730286/ /pubmed/34964846 http://dx.doi.org/10.1093/database/baab075 Text en © The Author(s) 2021. Published by Oxford University Press. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Shi, Xiaoshun
Li, Ruidong
Zhai, Jianxue
Chen, Allen Menglin
Huang, Kailing
Zheng, Zhouxia
Chen, Zhuona
Dong, Xiaoyin
Liu, Xiguang
Lu, Di
Feng, Siyang
Diao, Dingwei
Ren, Pengfei
Liu, Zhaoguo
Morahan, Grant
Cai, Kaican
The first comprehensive database of germline pathogenic variants in East Asian cancer patients
title The first comprehensive database of germline pathogenic variants in East Asian cancer patients
title_full The first comprehensive database of germline pathogenic variants in East Asian cancer patients
title_fullStr The first comprehensive database of germline pathogenic variants in East Asian cancer patients
title_full_unstemmed The first comprehensive database of germline pathogenic variants in East Asian cancer patients
title_short The first comprehensive database of germline pathogenic variants in East Asian cancer patients
title_sort first comprehensive database of germline pathogenic variants in east asian cancer patients
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8730286/
https://www.ncbi.nlm.nih.gov/pubmed/34964846
http://dx.doi.org/10.1093/database/baab075
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