Медицинская библиотека · Nature communications · 2026

Multi-ancestry transcriptome-wide association studies uncover insights into breast cancer genetics and biology.

Ping Jie, Jia Guochong, Cai Qiuyin, Guo Xingyi, Wang Jifeng, Tao Ran, Li Bingshan, Bauer Joshua A, Xie Yuhan, Ambs Stefan, Barnard Mollie E, Chen Yu, Choi Ji-Yeob, Gao Yu-Tang, Garcia-Closas Montserrat, Gu Jian, Hu Jennifer J, Iwasaki Motoki, John Esther M, Kweon Sun-Seog, Li Christopher I, Matsuda Koichi, Matsuo Keitaro, Nathanson Katherine L, Nemesure Barbara, Olopade Olufunmilayo I, Pal Tuya, Park Sue K, Park Boyoung, Press Michael F, Sanderson Maureen, Sandler Dale P, Yao Song, Zheng Ying, Ahearn Thomas, Brewster Abenaa M, Falusi Adeyinka, Hennis Anselm J M, Ito Hidemi, Kubo Michiaki, Lee Eun-Sook, Makumbi Timothy, Mapoko Berthe S E, Noh Dong-Young, O'Brien Katie M, Ojengbede Oladosu, Olshan Andrew F, Park Min-Ho, Reid Sonya, Yamaji Taiki, Zirpoli Gary, Butler Ebonee N, Huang Maosheng, Low Siew-Kee, Obafunwa John, Weinberg Clarice R, Zhang Haoyu, Zhao Hongyu, Ambrosone Christine B, Cote Michelle L, Huo Dezheng, Haiman Christopher A, Kang Daehee, Palmer Julie R, Troester Melissa A, Shu Xiao-Ou, Long Jirong, Zheng Wei

СтатьяПеревод в очереди

Аннотация

Genome-wide association studies (GWAS) have identified over 200 genetic risk loci for breast cancer, yet their target genes remain largely unknown. We conduct multi-ancestry transcriptome-wide association studies (TWAS) to discover potential breast cancer susceptibility genes. We develop ancestry-specific genetic models to predict levels of gene expression, alternative splicing, and 3' UTR alternative polyadenylation using genomic and transcriptomic data from 652 normal female tissue samples and apply these models to GWAS data of 178,534 cases and 248,300 controls for association analyses. We identify 290 genes associated with breast cancer risk, including 103 previously unreported and 46 not located at known GWAS loci, and 39 genes show distinct associations with breast cancer risk by estrogen-receptor status. Single-cell RNA sequencing and in vitro experiment data provide additional functional evidence for 169 genes. These genes are enriched in pathways implicated in breast carcinogenesis. Our study uncovers insights into breast cancer genetics and biology.

Для цитирования: Ping Jie, Jia Guochong, Cai Qiuyin, Guo Xingyi, Wang Jifeng, Tao Ran, Li Bingshan, Bauer Joshua A, Xie Yuhan, Ambs Stefan, Barnard Mollie E, Chen Yu, Choi Ji-Yeob, Gao Yu-Tang, Garcia-Closas Montserrat, Gu Jian, Hu Jennifer J, Iwasaki Motoki, John Esther M, Kweon Sun-Seog, Li Christopher I, Matsuda Koichi, Matsuo Keitaro, Nathanson Katherine L, Nemesure Barbara, Olopade Olufunmilayo I, Pal Tuya, Park Sue K, Park Boyoung, Press Michael F, Sanderson Maureen, Sandler Dale P, Yao Song, Zheng Ying, Ahearn Thomas, Brewster Abenaa M, Falusi Adeyinka, Hennis Anselm J M, Ito Hidemi, Kubo Michiaki, Lee Eun-Sook, Makumbi Timothy, Mapoko Berthe S E, Noh Dong-Young, O'Brien Katie M, Ojengbede Oladosu, Olshan Andrew F, Park Min-Ho, Reid Sonya, Yamaji Taiki, Zirpoli Gary, Butler Ebonee N, Huang Maosheng, Low Siew-Kee, Obafunwa John, Weinberg Clarice R, Zhang Haoyu, Zhao Hongyu, Ambrosone Christine B, Cote Michelle L, Huo Dezheng, Haiman Christopher A, Kang Daehee, Palmer Julie R, Troester Melissa A, Shu Xiao-Ou, Long Jirong, Zheng Wei. Multi-ancestry transcriptome-wide association studies uncover insights into breast cancer genetics and biology.. Nature communications. 2026. DOI: 10.1038/s41467-026-73801-x.

Предметные рубрики MeSH

Female Humans Genome-Wide Association Study Breast Neoplasms Genetic Predisposition to Disease Transcriptome Polymorphism, Single Nucleotide Gene Expression Regulation, Neoplastic Alternative Splicing Gene Expression Profiling 3' Untranslated Regions

Подготовка и перевод публикации

Обработка статьи · этапы, ошибки и управление

Загрузка состояния…

История · было → стало

Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.

Тип публикации указан по данным источника. Уровень доказательности автоматически не присваивается.

Аннотация

Предметные рубрики MeSH

Ошибки и ограничения