Study
Cistrome-partitioning reveals convergence of somatic mutations and risk-variants on master transcription regulators in primary prostate tumors
Study ID | Alternative Stable ID | Type |
---|---|---|
EGAS00001003928 | Other |
Study Description
Thousands of noncoding somatic Single Nucleotide Variants (SNVs) of unknown
function are reported in tumors. Partitioning the genome according to cistromes,
reveals the enrichment of somatic SNVs in prostate tumors as opposed to adjacent
normal tissue cistromes of master transcription regulators, including AR, FOXA1 and
HOXB13. This parallels enrichment of prostate cancer genetic predispositions over
these transcription regulators’ tumor cistromes, exemplified at the 8q24 locus harboring
both risk-variants and somatic SNVs in cis-regulatory elements, upregulating MYC
expression and altering the binding of transcription regulators to DNA. However, Massively-Parallel Reporter Assays reveal that few SNVs can alter the transactivation
potential of individual CREs. Instead, SNVs accumulate, similarly to inherited riskvariants,
in cistromes of master transcription regulators required for prostate cancer
development.
Difficulties in inferring the biological significance of noncoding mutations have limited
their inclusion in precision genomics medicine pipelines. Most attempts to ... (Show More)
Study Datasets 1 dataset.
Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data
Dataset ID | Description | Technology | Samples |
---|---|---|---|
EGAD00001005374 |
ChIP-seq for AR, FOXA1 and HOXB13 on 8 prostectomy samples, both regions with/-out tumor cells, Fastq files.
|
Illumina HiSeq 2500 | 50 |
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