GSE74718 | Datasets2Tools

Noncoding somatic and inherited single-nucleotide variants converge to promote ESR1 expression in breast cancer

Transcriptomics Dataset

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General Information

Accession	GSE74718
Title	Noncoding somatic and inherited single-nucleotide variants converge to promote ESR1 expression in breast cancer
Description	Sustained expression of the estrogen receptor- (ESR1) drives two-thirds of breast cancer and defines the ESR1-positive subtype. ESR1 engages enhancers upon estrogen stimulation to establish an oncogenic expression program1. Somatic copy number alterations involving the ESR1 gene occur in approximately 1 %% of ESR1-positive breast cancers25, suggesting that other mechanisms underlie the persistent expression of ESR1. We report significant enrichment of somatic mutations within the set of regulatory elements (SRE) regulating ESR1 in 7%% of ESR1-positive breast cancers. These mutations regulate ESR1 expression by modulating transcription factor binding to the DNA. The SRE includes a recurrently mutated enhancer whose activity is also affected by rs9383590, a functional inherited single-nucleotide variant (SNV) that accounts for several breast cancer riskassociated loci. Our work highlights the importance of considering the combinatorial activity of regulatory elements as a single unit to delineate the impact of noncoding genetic alterations on single genes in cancer.
Landing Page	https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE74718
Repository	Gene Expression Omnibus

Tools used to analyze the dataset

Dataset Accession

ARCHS4

Published September 2017

ARCHS4 provides access to gene counts from HiSeq 2000 and HiSeq 2500 platforms for human and mouse experiments from GEO ...

4645

Clustergrammer

Published October 2017

Web-based tool for visualizing and analyzing high-dimensional data as interactive and shareable heatmaps

4645

Canned Analyses generated with the dataset

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