The first comprehensive database of germline pathogenic variants in East Asian cancer patients-Reference-Cited by-全球学者库

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

Published:2021-12-01 Issue:2021 Volume:2021 Page:
ISSN:1758-0463
Container-title:Database
language:en
Short-container-title:

Author:

Shi Xiaoshun¹²,Li Ruidong³^ORCID,Zhai Jianxue¹,Chen Allen Menglin⁴,Huang Kailing⁴,Zheng Zhouxia⁴,Chen Zhuona⁴,Dong Xiaoyin¹,Liu Xiguang¹,Lu Di¹,Feng Siyang¹,Diao Dingwei¹,Ren Pengfei¹,Liu Zhaoguo¹,Morahan Grant²,Cai Kaican¹^ORCID

Affiliation:

1. Department of Thoracic Surgery, Nanfang Hospital, Southern Medical University, 1838 Guang Zhou Avenue North, Guangzhou 510515, P. R. China

2. Harry Perkins Institute of Medical Research, QEII Medical Centre and Centre for Medical Research, The University of Western Australia, 6 Verdun St, Nedlands WA 6009, Australia

3. Genetics, Genomics, and Bioinformatics Program, University of California, 900 University Ave, Riverside, CA 92507, USA

4. Guangzhou Mendel Genomics and Medical Technology Co., Ltd., 6/F, Bldg D, 188 Kaiyuan Ave, Guangzhou 510535, P. R. China

Abstract

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/

Funder

the Science and Technology Program of Guangzhou

the Major Science and Technology Planning Project of Guangdong Province

the Research Initiative Fund of Southern Hospital 2018

the National Natural Science Foundation of China

Publisher

Oxford University Press (OUP)

Subject

General Agricultural and Biological Sciences,General Biochemistry, Genetics and Molecular Biology,Information Systems

Link

https://academic.oup.com/database/article-pdf/2021/2021/baab075/41969128/baab075.pdf

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