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A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

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  1. Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease

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  2. Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer

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  3. Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

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  4. Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition

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  5. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

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  1. Cardiac chamber volumes and left ventricular mass in people living with HIV and matched uninfected controls

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  2. Impact of cardiovascular risk factors and genetics on 10-year absolute risk of dementia: risk charts for targeted prevention

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  3. Low high-density lipoprotein and increased risk of several cancers: 2 population-based cohort studies including 116,728 individuals

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The breast cancer risk variants identified in genome-wide association studies explain only a small fraction of the familial relative risk, and the genes responsible for these associations remain largely unknown. To identify novel risk loci and likely causal genes, we performed a transcriptome-wide association study evaluating associations of genetically predicted gene expression with breast cancer risk in 122,977 cases and 105,974 controls of European ancestry. We used data from the Genotype-Tissue Expression Project to establish genetic models to predict gene expression in breast tissue and evaluated model performance using data from The Cancer Genome Atlas. Of the 8,597 genes evaluated, significant associations were identified for 48 at a Bonferroni-corrected threshold of P < 5.82 × 10-6, including 14 genes at loci not yet reported for breast cancer. We silenced 13 genes and showed an effect for 11 on cell proliferation and/or colony-forming efficiency. Our study provides new insights into breast cancer genetics and biology.

Original languageEnglish
JournalNature Genetics
Volume50
Issue number7
Pages (from-to)968-978
Number of pages11
ISSN1061-4036
DOIs
Publication statusPublished - Jul 2018

ID: 56620381