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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.


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?

SUBMITTER: Yang Y 

PROVIDER: S-EPMC6838373 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature

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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.

Yang Yaohua Y   Shu Xiang X   Shu Xiao-Ou XO   Bolla Manjeet K MK   Kweon Sun-Seog SS   Cai Qiuyin Q   Michailidou Kyriaki K   Wang Qin Q   Dennis Joe J   Park Boyoung B   Matsuo Keitaro K   Kwong Ava A   Park Sue Kyung SK   Wu Anna H AH   Teo Soo Hwang SH   Iwasaki Motoki M   Choi Ji-Yeob JY   Li Jingmei J   Hartman Mikael M   Shen Chen-Yang CY   Muir Kenneth K   Lophatananon Artitaya A   Li Bingshan B   Wen Wanqing W   Gao Yu-Tang YT   Xiang Yong-Bing YB   Aronson Kristan J KJ   Spinell John J JJ   Gago-Dominguez Manuela M   John Esther M EM   Kurian Allison W AW   Chang-Claude Jenny J   Chen Shou-Tung ST   Dörk Thilo T   Evans D Gareth R DGR   Schmidt Marjanka K MK   Shin Min-Ho MH   Giles Graham G GG   Milne Roger L RL   Simard Jacques J   Kubo Michiaki M   Kraft Peter P   Kang Daehee D   Easton Douglas F DF   Zheng Wei W   Long Jirong J  

EBioMedicine 20191016


<h4>Background</h4>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.<h4>Methods</h4>Of these 279 v  ...[more]

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