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Title: Re-evaluating genetic variants identified in candidate gene studies of breast cancer risk using data from nearly 280,000 women of Asian and European ancestry
Authors: Yang, Yaohua
Shu, Xiang
Shu, Xiao-ou
Bolla, Manjeet K
Kweon, Sun-Seog
Cai, Qiuyin
Michailidou, Kyriaki
Wang, Qin
Dennis, Joe
Park, Boyoung
Matsuo, Keitaro
Kwong, Ava
Park, Sue Kyung
Wu, Anna H
Teo, Soo Hwang
Iwasaki, Motoki
Choi, Ji-Yeob
Li, Jingmei 
Hartman, Mikael 
Shen, Chen-Yang
Muir, Kenneth
Lophatananon, Artitaya
Li, Bingshan
Wen, Wanqing
Gao, Yu-Tang
Xiang, Yong-Bing
Aronson, Kristan J
Spinell, John J
Gago-Dominguez, Manuela
John, Esther M
Kurian, Allison W
Chang-Claude, Jenny
Chen, Shou-Tung
Dork, Thilo
Evans, D Gareth R
Schmidt, Marjanka K
Shin, Min-Ho
Giles, Graham G
Milne, Roger L
Simard, Jacques
Kubo, Michiaki
Kraft, Peter
Kang, Daehee
Easton, Douglas F
Zheng, Wei
Long, Jirong
Keywords: Science & Technology
Life Sciences & Biomedicine
Medicine, General & Internal
Medicine, Research & Experimental
General & Internal Medicine
Research & Experimental Medicine
Genetic variants
Candidate gene studies
Breast cancer risk
Issue Date: 1-Oct-2019
Publisher: ELSEVIER
Citation: Yang, Yaohua, Shu, Xiang, Shu, Xiao-ou, Bolla, Manjeet K, Kweon, Sun-Seog, Cai, Qiuyin, Michailidou, Kyriaki, Wang, Qin, Dennis, Joe, Park, Boyoung, Matsuo, Keitaro, Kwong, Ava, Park, Sue Kyung, Wu, Anna H, Teo, Soo Hwang, Iwasaki, Motoki, Choi, Ji-Yeob, Li, Jingmei, Hartman, Mikael, Shen, Chen-Yang, Muir, Kenneth, Lophatananon, Artitaya, Li, Bingshan, Wen, Wanqing, Gao, Yu-Tang, Xiang, Yong-Bing, Aronson, Kristan J, Spinell, John J, Gago-Dominguez, Manuela, John, Esther M, Kurian, Allison W, Chang-Claude, Jenny, Chen, Shou-Tung, Dork, Thilo, Evans, D Gareth R, Schmidt, Marjanka K, Shin, Min-Ho, Giles, Graham G, Milne, Roger L, Simard, Jacques, Kubo, Michiaki, Kraft, Peter, Kang, Daehee, Easton, Douglas F, Zheng, Wei, Long, Jirong (2019-10-01). Re-evaluating genetic variants identified in candidate gene studies of breast cancer risk using data from nearly 280,000 women of Asian and European ancestry. EBIOMEDICINE 48 : 203-211. ScholarBank@NUS Repository.
Abstract: Background: We previously conducted a systematic field synopsis of 1059 breast cancer candidate gene studies and investigated 279 genetic variants, 51 of which showed associations. The major limitation of this work was the small sample size, even pooling data from all 1059 studies. Thereafter, genome-wide association studies (GWAS) have accumulated data for hundreds of thousands of subjects. It's necessary to re-evaluate these variants in large GWAS datasets. Methods: Of these 279 variants, data were obtained for 228 from GWAS conducted within the Asian Breast Cancer Consortium (24,206 cases and 24,775 controls) and the Breast Cancer Association Consortium (122,977 cases and 105,974 controls of European ancestry). Meta-analyses were conducted to combine the results from these two datasets. Findings: Of those 228 variants, an association was observed for 12 variants in 10 genes at a Bonferroni-corrected threshold of P < 2·19 × 10−4. The associations for four variants reached P < 5 × 10−8 and have been reported by previous GWAS, including rs6435074 and rs6723097 (CASP8), rs17879961 (CHEK2) and rs2853669 (TERT). The remaining eight variants were rs676387 (HSD17B1), rs762551 (CYP1A2), rs1045485 (CASP8), rs9340799 (ESR1), rs7931342 (CHR11), rs1050450 (GPX1), rs13010627 (CASP10) and rs9344 (CCND1). Further investigating these 10 genes identified associations for two additional variants at P < 5 × 10−8, including rs4793090 (near HSD17B1), and rs9210 (near CYP1A2), which have not been identified by previous GWAS. Interpretation: Though most candidate gene variants were not associated with breast cancer risk, we found 14 variants showing an association. Our findings warrant further functional investigation of these variants. Fund: National Institutes of Health.
ISSN: 23523964
DOI: 10.1016/j.ebiom.2019.09.006
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