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Identification of mutations and structural rearrangements in plasma DNA form metastatic prostate cancer patients

ABSTRACT: In this study we analysed patients with metastatic prostate cancer to scan their tumor genomes noninvasively in plasma DNA. We enriched 1.3 Mbp of seven plasma DNAs (4 CRPC cases: CRPC1-3 and CRPC5; 3 CSPC cases: CSPC1-2 and CSPC4) including exonic sequences of 55 cancer genes and 38 introns of 18 genes, where fusion breakpoints have been described using Sure Select Custom DNA Kit.

PROVIDER: EGAS00001000453 | EGA |

REPOSITORIES: EGA

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Tumor-associated copy number changes in the circulation of patients with prostate cancer identified through whole-genome sequencing.

Heitzer Ellen E Ulz Peter P Belic Jelena J Gutschi Stefan S Quehenberger Franz F Fischereder Katja K Benezeder Theresa T Auer Martina M Pischler Carina C Mannweiler Sebastian S Pichler Martin M Eisner Florian F Haeusler Martin M Riethdorf Sabine S Pantel Klaus K Samonigg Hellmut H Hoefler Gerald G Augustin Herbert H Geigl Jochen B JB Speicher Michael R MR

Genome medicine 20130405 4

<h4>Background</h4>Patients with prostate cancer may present with metastatic or recurrent disease despite initial curative treatment. The propensity of metastatic prostate cancer to spread to the bone has limited repeated sampling of tumor deposits. Hence, considerably less is understood about this lethal metastatic disease, as it is not commonly studied. Here we explored whole-genome sequencing of plasma DNA to scan the tumor genomes of these patients non-invasively.<h4>Methods</h4>We wanted to ...[more]

PMID: 23561577

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2011-05-11 | E-GEOD-19881 | biostudies-arrayexpress

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2014-12-15 | PXD000959 | Pride

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2012-12-19 | E-GEOD-42917 | biostudies-arrayexpress

Utilising Psych Arrays for the identification of CNVs and SNPs from Schizophrenia cases and controls from South-India.

Project description:Genotyping data on 192 schizophrenia cases and 181 healthy controls was generated using Psych Array V 1.3 Aim: To identify CNVs and SNPs associated with increased risk of schizophrenia

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Analysis of AR Gene Rearrangements in Prostate Cancer

Project description:<p>Molecularly-targeted therapies for advanced prostate cancer include castration modalities that suppress ligand-dependent transcriptional activity of the androgen receptor (AR). However, persistent AR signaling undermines therapeutic efficacy and promotes progression to lethal castration-resistant prostate cancer (CRPC), even when patients are treated with potent second-generation AR-targeted therapies abiraterone and enzalutamide. Here we define diverse AR genomic structural rearrangements (AR-GSRs) as a class of molecular alterations occurring in one third of CRPC-stage tumors. AR-GSRs occur in the context of copy-neutral and amplified AR and display heterogeneity in breakpoint location, rearrangement class, and sub-clonal enrichment in tumors within and between patients. Despite this heterogeneity, one common outcome in tumors with high sub-clonal enrichment of AR-GSRs is outlier expression of diverse AR variant species lacking the ligand binding domain and possessing ligand-independent transcriptional activity. Collectively, these findings reveal AR-GSRs as important drivers of persistent AR signaling in CRPC.</p>

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