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

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

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

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

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  4. The genetic evolution of metastatic uveal melanoma

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  5. A catalog of genetic loci associated with kidney function from analyses of a million individuals

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  1. The Number of Signaling Pathways Altered by Driver Mutations in Chronic Lymphocytic Leukemia Impacts Disease Outcome

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  2. Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

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  3. Variant in ERAP1 promoter region is associated with low expression in a patient with a Behçet-like MHC-I-opathy

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  4. Shared heritability and functional enrichment across six solid cancers

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Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underlying risk remain largely unknown. These regions were explored by combining association analysis with in silico genomic feature annotations. We defined 205 independent risk-associated signals with the set of credible causal variants in each one. In parallel, we used a Bayesian approach (PAINTOR) that combines genetic association, linkage disequilibrium and enriched genomic features to determine variants with high posterior probabilities of being causal. Potentially causal variants were significantly over-represented in active gene regulatory regions and transcription factor binding sites. We applied our INQUSIT pipeline for prioritizing genes as targets of those potentially causal variants, using gene expression (expression quantitative trait loci), chromatin interaction and functional annotations. Known cancer drivers, transcription factors and genes in the developmental, apoptosis, immune system and DNA integrity checkpoint gene ontology pathways were over-represented among the highest-confidence target genes.

Original languageEnglish
JournalNature Genetics
Volume52
Issue number1
Pages (from-to)56-73
Number of pages18
ISSN1061-4036
DOIs
Publication statusPublished - Jan 2020

ID: 59351842