10117 results for "cancer rna-seq"

in 36.11 milliseconds.

• Defining the metastasome in colorectal cancer: Implications for hypotheses on metastasis evolution and personalized therapy (HIPO-032)

  Personalized cancer therapy aims at individual genetic changes characterizing primary cancers. Still, however, metastasis is the major clinically unmet problem, also due to an incomplete understanding of its molecular evolution.This study is the first to define the metastasis-specific whole genome landscape of human colorectal primary vs. matched metastatic lesions.Protein coding, ncRNA genes and 3’UTRs harbored about a third each of single nucleotide variations (SNVs)/indels, 19% of them being metastasis-specific. We found novel mutational hills among ncRNAs and 3’UTRs, copy number changes able to explain changes in microRNA expression in metastases, and novel metastasis-specific mutations in the 3’UTRs on important cancer signalling genes. Some metastatic lesions showed targetable mutations not detected in the primaries. Analysis of mutual exclusivity patterns supported a model that has progressive alterations in important colorectal cancer genes and revealed new partners. Metastatic lesions were enriched in SNVs, specific structural variations, and alterations in genes affecting cell adhesion and extracellular matrix interaction.Furthermore, a hepatic stellate activation cascade was enriched in metastases, suggesting genetic programs for site-specific colonization. Allele frequency distribution and mutational signature analysis suggests a common ancestor clone to both the primary tumor and the metastasis, with additional mutagenesis ongoing in both sites independently. Taken together, our results significantly add to hypothesis generation on metastasis evolution, and suggest novel metastasis-specific genomic changes which would be missed by current personalized therapy concepts. (HIPO-032)

  Study EGAS00001002717

• Prostate Cancer Upgrading Reference Set

  This study aimed to investigate clinical, demographic, and molecular features of men diagnosed with low-risk prostate cancer [ISUP Grade Group 1 (GG1)] at biopsy who underwent radical prostatectomy, and for whom an increased tumor grade (ISUP Grade Group 2 or above) was subsequently detected in the resected prostate. This phenomenon is termed upgrading. In collaboration with the Early Detection Research Network (EDRN), a blinded reference set was established to facilitate upgrading biomarker detection and validation. A prospective, multi-institutional, cohort of men with the GG1 prostate cancer and intention to undergo prostatectomy was recruited. Biospecimens (blood, urine) were collected and this biorepository comprises the official EDRN Upgrading Reference Set (URS). Recording of case-control status (case = upgrading at prostatectomy, control = no upgrading at prostatectomy) was coordinated by the Data Management and Coordinating Center (DMCC) of the EDRN, who ensured blinding of all participating researchers. A subset of the reference set (n = 192) was chosen to undergo whole genome sequencing (WGS) for the investigation of a germline genomic biomarker of upgrading. Variant calls from all sequenced URS whole genomes are available through dbGaP, with the exception of one sample for which sequencing was not successful. Among investigated clinical features, prostate-specific antigen (PSA) density and percent of cancer in pre-prostatectomy positive biopsy cores were significantly associated with upgrading. Two polygenic risk score-based biomarkers were computed in the genetic sub-cohort and tested against case-control status. Neither was predictive of upgrading.

  Study phs003670

• Multiscale heterogeneity in gastric adenocarcinoma evolution is an obstacle to precision medicine

  Study EGAS00001004525

• Sequencing_of_rare_human_histiocytic_tumour

  Sequencing of rare human histiocytic tumour

  Study EGAS00001000591

• Low_Coverage_Sequencing_of_rare_human_histiocytic_tumour

  Sequencing of rare human histiocytic tumour

  Study EGAS00001000768

• Primary_angiosarcoma_Whole_Genome_Sequencing

  Whole genome sequencing of primary angiosarcoma

  Study EGAS00001000851

• Induction Failure in Childhood and Young Adult T-cell Acute Lymphoblastic Leukemia

  Study EGAS00001006411

• Genome-wide DNA Copy Number Analysis of high hyperdiploid acute lymphoblastic leukemia

  Study EGAS00001007049

• Targeted next-generation sequencing of 13 chordoid gliomas of the third ventricle

  Study EGAS00001002733

• Organoid Models of Human Liver Cancers Derived from Tumor Needle Biopsies

  Study EGAS00001003115

• Whole-genome and transcriptome sequencing of blastic plasmacytoid dendritic cell neoplasm

  Study EGAS00001003660

• Multi Omics of glioma in the the Chinese Glioma Genome Atlas (CGGA) project

  Study EGAS00001004729

• Detection of Gene Fusions using Targeted Next-Generation Sequencing – a Comparative Evaluation

  Study EGAS00001004934

• Stromal cell diversity associated with immune evasion in human triple‐negative breast cancer

  Study EGAS00001005061

• Mixed Histology Lung Cancers Driven by Transcriptomic Features rather than Genomic Characteristics

  Study EGAS00001005140

• TK-EPN862 - Patient-dervied xenograft model of Posterior Fossa A Ependymoma - WGS

  Study EGAS00001006843

• TRACERx Non-small cell lung cancer

  Dac EGAC00001000632

• Barts Cancer Institute - Follicular Lymphoma Whole Genome Sequencing Project Data Access Committee

  Dac EGAC00001000086

• The University of Hong Kong Gastric Cancer Genomics Study Data Access Committee

  Dac EGAC00001000136

• The University of Hong Kong Gastric Cancer Organoids Genomics Study Data Access Committee

  Dac EGAC00001000981

• Genomics to select patients with metastatic breast cancer for targeted therapy DAC

  Dac EGAC00001002293

• Bladder cancer sequencing data

  Dataset EGAD00001001036

• PELICAN45 and GP21 prostate cancer studies Data Access Committee

  Dac EGAC00001001309

• The genomic imprint of cancer therapies helps timing the formation of metastases

  Study EGAS00001003416

• The University of Hong Kong Gastric Cancer Organoids RHO Signaling Study Data Access Committee

  Dac EGAC00001002705