Dataset Information

Genome- and transcriptome-wide association studies of 386,000 Asian and European-ancestry women provide new insights into breast cancer genetics.

ABSTRACT: By combining data from 160,500 individuals with breast cancer and 226,196 controls of Asian and European ancestry, we conducted genome- and transcriptome-wide association studies of breast cancer. We identified 222 genetic risk loci and 137 genes that were associated with breast cancer risk at a p < 5.0 × 10^-8 and a Bonferroni-corrected p < 4.6 × 10^-6, respectively. Of them, 32 loci and 15 genes showed a significantly different association between ER-positive and ER-negative breast cancer after Bonferroni correction. Significant ancestral differences in risk variant allele frequencies and their association strengths with breast cancer risk were identified. Of the significant associations identified in this study, 17 loci and 14 genes are located 1Mb away from any of the previously reported breast cancer risk variants. Pathways analyses including 221 putative risk genes identified multiple signaling pathways that may play a significant role in the development of breast cancer. Our study provides a comprehensive understanding of and new biological insights into the genetics of this common malignancy.

SUBMITTER: Jia G

PROVIDER: S-EPMC9748250 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature

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Genome- and transcriptome-wide association studies of 386,000 Asian and European-ancestry women provide new insights into breast cancer genetics.

Jia Guochong G Ping Jie J Shu Xiang X Yang Yaohua Y Cai Qiuyin Q Kweon Sun-Seog SS Choi Ji-Yeob JY Kubo Michiaki M Park Sue K SK Bolla Manjeet K MK Dennis Joe J Wang Qin Q Guo Xingyi X Li Bingshan B Tao Ran R Aronson Kristan J KJ Chan Tsun L TL Gao Yu-Tang YT Hartman Mikael M Ho Weang Kee WK Ito Hidemi H Iwasaki Motoki M Iwata Hiroji H John Esther M EM Kasuga Yoshio Y Kim Mi-Kyung MK Kurian Allison W AW Kwong Ava A Li Jingmei J Lophatananon Artitaya A Low Siew-Kee SK Mariapun Shivaani S Matsuda Koichi K Matsuo Keitaro K Muir Kenneth K Noh Dong-Young DY Park Boyoung B Park Min-Ho MH Shen Chen-Yang CY Shin Min-Ho MH Spinelli John J JJ Takahashi Atsushi A Tseng Chiuchen C Tsugane Shoichiro S Wu Anna H AH Yamaji Taiki T Zheng Ying Y Dunning Alison M AM Pharoah Paul D P PDP Teo Soo-Hwang SH Kang Daehee D Easton Douglas F DF Simard Jacques J Shu Xiao-Ou XO Long Jirong J Zheng Wei W

American journal of human genetics 20221109 12

By combining data from 160,500 individuals with breast cancer and 226,196 controls of Asian and European ancestry, we conducted genome- and transcriptome-wide association studies of breast cancer. We identified 222 genetic risk loci and 137 genes that were associated with breast cancer risk at a p < 5.0 × 10<sup>-8</sup> and a Bonferroni-corrected p < 4.6 × 10<sup>-6</sup>, respectively. Of them, 32 loci and 15 genes showed a significantly different association between ER-positive and ER-negativ ...[more]

PMID: 36356581

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Dataset Information

Genome- and transcriptome-wide association studies of 386,000 Asian and European-ancestry women provide new insights into breast cancer genetics.

Publications

Genome- and transcriptome-wide association studies of 386,000 Asian and European-ancestry women provide new insights into breast cancer genetics.

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