Identification of Recurrent Variants in BRCA1 and BRCA2 across Multiple Cancers in the Chinese Population
Joint Authors
Chen, Jiaping
Jiang, Yue
Jin, Guangfu
Ma, Hongxia
Hu, Zhibin
Shen, Hongbing
Dai, Juncheng
Tian, Ting
Yu, Chengxiao
Zhou, Wen
Yang, Junzhe
Wang, Yifeng
Wen, Yang
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-11, 11 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-08-17
Country of Publication
Egypt
No. of Pages
11
Main Subjects
Abstract EN
BRCA1 and BRCA2 as important DNA repair genes have been thoroughly investigated in abundant studies.
The potential relationships of BRCA1/2 pathogenic variants between multicancers have been verified in Caucasians but few in Chinese.
In this study, we performed a two-stage study to screen BRCA1/2 pathogenic variants or variants of uncertain significance (VUS) with 7580 cancer cases and 4874 cancer-free controls, consisting of a discovery stage with 70 familial breast cancer cases and a subsequent validation stage with 7510 cases (3217 breast cancer, 1133 cervical cancer, 2044 hepatocellular carcinoma, and 1116 colorectal cancer).
48 variants were obtained from 70 familial breast cancer cases after BRCA1/2 exon detection, and finally, 20 pathogenic variants or VUS were selected for subsequent validation.
Four recurrent variants in sporadic cases (BRCA1 c.4801A>T, BRCA1 c.3257del, BRCA1 c.440del, and BRCA2 c.7409dup) were identified and three of them were labeled Class 5 by ENIGMA.
Two variants (BRCA1 c.3257del and c.440del) were specific in breast cancer cases, while BRCA2 c.7409dup and c.4307T>C were detected in two hepatocellular carcinoma patients and the BRCA1 c.4801A>T variant in one cervical cancer patient, respectively.
Moreover, BRCA1 c.3257del was the most frequent variant observed in Chinese sporadic breast cancer and showed increased proliferation of BRCA1c.3257del-overexpressing triple-negative breast cancer cell lines (MDA-MB-231) in vitro.
In addition to the known founder deleterious mutations, our findings highlight that the recurrently pathogenic variants in breast cancer cases could be taken as candidate genetic screening loci for a more efficient genetic screening of the Chinese population.
American Psychological Association (APA)
Jiang, Yue& Tian, Ting& Yu, Chengxiao& Zhou, Wen& Yang, Junzhe& Wang, Yifeng…[et al.]. 2020. Identification of Recurrent Variants in BRCA1 and BRCA2 across Multiple Cancers in the Chinese Population. BioMed Research International،Vol. 2020, no. 2020, pp.1-11.
https://search.emarefa.net/detail/BIM-1136145
Modern Language Association (MLA)
Jiang, Yue…[et al.]. Identification of Recurrent Variants in BRCA1 and BRCA2 across Multiple Cancers in the Chinese Population. BioMed Research International No. 2020 (2020), pp.1-11.
https://search.emarefa.net/detail/BIM-1136145
American Medical Association (AMA)
Jiang, Yue& Tian, Ting& Yu, Chengxiao& Zhou, Wen& Yang, Junzhe& Wang, Yifeng…[et al.]. Identification of Recurrent Variants in BRCA1 and BRCA2 across Multiple Cancers in the Chinese Population. BioMed Research International. 2020. Vol. 2020, no. 2020, pp.1-11.
https://search.emarefa.net/detail/BIM-1136145
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1136145