5246 results for "*oma"

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• Genome and transcriptome sequence data from a metastatic chordoma of the c-spine patient

  Genome and transcriptome sequence data from a metastatic chordoma of the c-spine patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001015995

• Genome and transcriptome sequence data from a urothelial carcinoma - primary unknown patient

  Genome and transcriptome sequence data from a urothelial carcinoma - primary unknown patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001015999

• Genome and transcriptome sequence data from a epitheloid angiosarcoma of bone patient

  Genome and transcriptome sequence data from a epitheloid angiosarcoma of bone patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001016000

• Genome and transcriptome sequence data from a esthesioneuroblastoma recurrent patient

  Genome and transcriptome sequence data from a esthesioneuroblastoma recurrent patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001016001

• Genome and transcriptome sequence data from a metastatic pancreatic adenocarcinoma patient

  Genome and transcriptome sequence data from a metastatic pancreatic adenocarcinoma patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001016002

• Genome and transcriptome sequence data from a metastatic squamous cell carcinoma patient

  Genome and transcriptome sequence data from a metastatic squamous cell carcinoma patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001016003

• Genome and transcriptome sequence data from a dedifferentiated liposarcoma patient

  Genome and transcriptome sequence data from a dedifferentiated liposarcoma patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001016008

• Genome and transcriptome sequence data from a sclerosing epithelioid fibrosarcoma patient

  Genome and transcriptome sequence data from a sclerosing epithelioid fibrosarcoma patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001016009

• Genome and transcriptome sequence data from a large cell neuroendocrine carcinoma of prostate patient

  Genome and transcriptome sequence data from a large cell neuroendocrine carcinoma of prostate patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001015861

• Genome and transcriptome sequence data from a metastatic low grade stromal sarcoma endometrial cancer patient

  Genome and transcriptome sequence data from a metastatic low grade stromal sarcoma endometrial cancer patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001015862

• Genome and transcriptome sequence data from a uterine leiomyosarcoma patient

  Genome and transcriptome sequence data from a uterine leiomyosarcoma patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001015863

• Genome and transcriptome sequence data from a goblet cell adenocarcinoma of the appendix patient

  Genome and transcriptome sequence data from a goblet cell adenocarcinoma of the appendix patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001015865

• Genome and transcriptome sequence data from a small cell carcinoma of the cervix patient

  Genome and transcriptome sequence data from a small cell carcinoma of the cervix patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001015868

• Genome and transcriptome sequence data from a squamous cell carcinoma of larynx patient

  Genome and transcriptome sequence data from a squamous cell carcinoma of larynx patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001015870

• Genome and transcriptome sequence data from a astrocytoma patient

  Genome and transcriptome sequence data from a astrocytoma patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001015871

• Genome and transcriptome sequence data from a oligodendroglioma patient

  Genome and transcriptome sequence data from a oligodendroglioma patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001015874

• Genome and transcriptome sequence data from a metastatic pancreatic ductal adenocarcinoma patient

  Genome and transcriptome sequence data from a metastatic pancreatic ductal adenocarcinoma patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001015875

• Genome and transcriptome sequence data from a metastatic cholangiocarcinoma vs unknown primary patient

  Genome and transcriptome sequence data from a metastatic cholangiocarcinoma vs unknown primary patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001015876

• Genome and transcriptome sequence data from a uterine leiomyosarcoma patient

  Genome and transcriptome sequence data from a uterine leiomyosarcoma patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001015882

• Genome and transcriptome sequence data from a metastatic melanoma patient

  Genome and transcriptome sequence data from a metastatic melanoma patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001015884

• Genome and transcriptome sequence data from a metastatic pancreatic adenocarcinoma patient

  Genome and transcriptome sequence data from a metastatic pancreatic adenocarcinoma patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001015886

• Genome and transcriptome sequence data from a metastatic high grade small cell neuroendocrine carcinoma patient

  Genome and transcriptome sequence data from a metastatic high grade small cell neuroendocrine carcinoma patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001015887

• Genome and transcriptome sequence data from a metastatic osteosarcoma patient

  Genome and transcriptome sequence data from a metastatic osteosarcoma patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001015888

• Genome and transcriptome sequence data from a lung adenocarcinoma patient

  Genome and transcriptome sequence data from a lung adenocarcinoma patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001015893

• Genome and transcriptome sequence data from a nasopharyngeal carcinoma patient

  Genome and transcriptome sequence data from a nasopharyngeal carcinoma patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001015896

• Genome and transcriptome sequence data from a metastatic sebaceous gland carcinoma patient

  Genome and transcriptome sequence data from a metastatic sebaceous gland carcinoma patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001015899

• Genome and transcriptome sequence data from a cervical squamous carcinoma patient

  Genome and transcriptome sequence data from a cervical squamous carcinoma patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001015900

• Genome and transcriptome sequence data from a adenocarcinoma of the lung patient

  Genome and transcriptome sequence data from a adenocarcinoma of the lung patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001015902

• Genome and transcriptome sequence data from a metastatic poorly differentiated (likely basaloid squamous cell) carcinoma of unknown primary patient

  Genome and transcriptome sequence data from a metastatic poorly differentiated (likely basaloid squamous cell) carcinoma of unknown primary patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001015904

• Genome and transcriptome sequence data from a metastatic rectal adenocarcinoma patient

  Genome and transcriptome sequence data from a metastatic rectal adenocarcinoma patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001015906

• Genome and transcriptome sequence data from a lung squamous cell carcinoma patient

  Genome and transcriptome sequence data from a lung squamous cell carcinoma patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001015907

• RNAseq and WES of CHC patients years before HCC development

  We conducted a nested case–control study within a prospective liver biopsy biobank at the University Hospital Basel. Patients with chronic hepatitis C (CHC) who developed hepatocellular carcinoma (HCC) during follow-up (index cases, CHC-HCC) were identified and 1:2 propensity score-matched to CHC controls without HCC (controls, CHC-nonHCC). Matching included clinical, demographic, and virological risk factors for HCC. Liver biopsies were analyzed using RNA and whole-exome sequencing.

  Dataset EGAD50000001591

• Genome and transcriptome sequence data from a adenocarcinoma, non-small cell lung cancer patient

  Genome and transcriptome sequence data from a adenocarcinoma, non-small cell lung cancer patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001016149

• Genome and transcriptome sequence data from a adenocarcinoma of the duodenum patient

  Genome and transcriptome sequence data from a adenocarcinoma of the duodenum patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001016150

• Genome and transcriptome sequence data from a rectal adenocarcinoma patient

  Genome and transcriptome sequence data from a rectal adenocarcinoma patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001016151

• Genome and transcriptome sequence data from a esophageal adenocarcinoma patient

  Genome and transcriptome sequence data from a esophageal adenocarcinoma patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001016152

• snRNA sequencing of high-grade pancreatic neuroendocrine carcinoma (panNEC)

  High-grade pancreatic neuroendocrine carcinoma (panNEC) is a rare, aggressive cancer with limited tissue availability. Single-nucleus transcriptomics of five large-cell panNECs revealed two interesting neuroendocrine cell states: one highly proliferative with an aberrant brain-specific neuronal differentiation program and another stress-responsive state enriched for heat stress, hypoxia, and glycolysis. Our findings suggest potential therapeutic vulnerabilities, highlighting the need to evaluate the efficacy of combination therapies.

  Dataset EGAD00001016154

• GBM-Space: Whole Genome Sequencing of Laser Capture Microdissected Glioblastoma (LCM-WGS)

  Cancer cells display heterogeneous and dynamic states in glioblastoma, but how these malignant states arise and whether they follow a tractable cellular trajectory across tumours is poorly understood. Here, we generate a deep single cell and spatial multi-region atlas of 12 isocitrate dehydrogenase wild-type (IDH-wt) primary glioblastomas that integrates transcriptomic, epigenomic and genomic analysis to comprehensively characterise their tumour heterogeneity. This dataset contains whole genome sequencing (WGS) data generated from regions of interest (ROIs) collected via laser capture microdissection (LCM), towards identifying copy number alterations and subclones directly at the DNA level.

  Dataset EGAD00001016155

• Targeted DNA sequencing of 60 non-Hodgkin lymphoma biopsies using a custom gene panel for hematological malignancies: raw (FASTQ) data

  Targeted DNA sequencing was performed on 60 non-Hodgkin lymphoma (NHL) samples using a custom next-generation sequencing panel targeting the coding regions of 190 genes recurrently mutated in hematological malignancies. Libraries were sequenced on an Illumina NovaSeq 6000 platform using 2 × 150 bp paired-end reads. The dataset includes the raw sequencing data (FASTQ files) for all 60 samples.

  Dataset EGAD50000002845

• scRNAseq and spatial transcriptomics data of melanoma samples

  Paired-end 10x single-cell RNA sequencing and Visium spatial transcriptomics data from samples derived from 11 melanoma patients. Sequencing was performed on the Illumina NovaSeq 6000 using 10xGenomics Chromium Next GEM Single-Cell 5 Reagent Kits v2 or 10xGenomics Visium Gene Expression kit.

  Dataset EGAD50000002902

• RNA-seq of adult T-cell leukemia-lymphoma patient-derived xenograft (PDX) models treated with the MALT1 protease inhibitor CRD-1441551

  To elucidate the therapeutic effect of MALT1 protease inhibition in adult T-cell leukemia/lymphoma (ATL), we performed RNA-seq on tumor tissues from five ATL patient-derived xenograft (PDX) models. NOG mice engrafted with each PDX model were treated with the MALT1 protease inhibitor CRD-1441551 or vehicle for 21 days, in biological triplicate (n = 3 per condition; 30 samples in total). Mouse-derived reads were removed and the remaining human reads were aligned to the human reference genome (hg19). These data underlie the gene-expression analyses reported in the associated publication.

  Study JGAS000921

• Impact of Mutated CTCF DNA binding sites of Topologically associating domains on nearby Cancer Gene Regulation: A Multi-Omics Analysis

  Cutaneous squamous cell carcinoma (cSCC) is the most common lethal malignancy world-wide. Due in most part to the extremely high mutational burden (TMB) in cSCC, making sense of it’s non-coding and regulatory regional genomic variation has lagged that of other far less common cancers. This study presents the first investigation of mutations at CCCTC-binding factor binding sites (CTCFbs) of Topologically associating domains (TAD) across defined cSCC progression stages—primary non-metastatic (PNM), primary metastat-ic (PM), and lymph node metastasis (LNM).

  Study EGAS50000001686

• CTCF Binding Site Mutations: Linking Topologically Associated Domains Dysregulation to Cutaneous Squamous Cell Carcinoma Progression

  Fresh tumor tissue from nodal metastases (n = 41) was harvested during surgery and immediately snap-frozen. A total of 72/75 cSCC, WGS samples were included in the analysis (refer to QC section), comprising primary tumors (both metastatic (PM (n = 16)) and non-metastatic (PNM (n = 15)), as well as lymph node metastases (LNM (n = 41)). The metastatic cohort included matched PM and LNM samples for 13 patients. The PNM group had to meet the following criteria: absence of metastases at > 24 months follow-up after resection of the primary or negative sentinel lymph node biopsy at time of resection or histologically negative neck dissection. Somatic variant analysis was performed using DRAGEN pipeline version 4.3.6 on the Illumina Connected Analytics (ICA) v2 environment using in house shell scripting. Tumor-normal paired analyses were carried out in three stages: alignment, variant calling, and integrative somatic analysis. Further information on the somatic calling is available at https://help.dragen.illumina.com/product-guides/dragen-v4.3/dragen-dna-pipeline/small-variant-calling/somatic-mode.

  Dataset EGAD50000002416

• IMC-F106C-101 dose escalation

  Brenetafusp is an ImmTAC bispecific (PRAME×CD3) targeting the cancer testis antigen PRAME. In this phase 1 study (NCT04262466), 126 HLA-A*02:01+ patients with advanced solid tumors received weekly IV doses from 0.3-320 mcg. The primary objective was to identify the maximum tolerated dose (MTD) or recommended phase 2 dose (RP2D); additional objectives included pharmacokinetics, pharmacodynamics, and preliminary anti-tumor activity. Brenetafusp demonstrated manageable safety and preliminary efficacy in PRAME+ tumors. A phase 3 trial in metastatic cutaneous melanoma is ongoing

  Study EGAS50000001976

• RNA-seq for "A preinvasive regulatory T cell axis for lung cancer interception" paper

  Bulk RNA sequencing data generated from primary resected non-small cell lung cancer (NSCLC) tumour tissue collected through the ASCENT study (Analysis of Screen-Detected Lung Cancers’ Genomic Traits; NCT04204499). The dataset comprises tumour RNA-seq from 89 patients with CT screen-detected NSCLC, predominantly early-stage disease, including lung adenocarcinoma and lung squamous cell carcinoma. The RNA-seq data were used to characterise tumour-immune transcriptional programmes and were analysed alongside matched peripheral blood immune profiling and clinical follow-up data.

  Dataset EGAD50000002852

• LUAD RNAseq – LORD

  RNA-seq data from paired normal and adenocarcinoma lung samples obtained from 515 patients that underwent lung cancer surgery.

  Study EGAS50000001705

• LUAD RNAseq - LORD

  The Lung Oncology Research and Discovery (LORD) program is a multi-omics translational initiative aimed at advancing precision medicine in lung cancer. It builds on a lung tissue biobank and leverages biological samples collected from patients who underwent lung cancer surgery at the IUCPQ-UL (Quebec City, Canada). LORD is therefore a single-site, retrospective, case-only study. Genomic profiling of biobanked samples is ongoing, with samples being analyzed sequentially in phases defined by sample type and omic modality. For this dataset, we provide RNA-seq data from paired normal and adenocarcinoma lung samples obtained from 515 patients.

  Dataset EGAD50000002450

• Projet LORD- LUAD RNAseq data

  RNAseq data from paired samples of non affected lung parenchyma and Lung adenocarcinoma (LUAD) from 515 patients surgically intervened at the Institut universitaire de cardiologie et de pneumologie de Québec- Université Laval

  Dac EGAC50000000846

• ICGC Oesophageal adenocarcinoma - 100 tumour samples

  The oesophageal project will focus on adenocarcinoma which is increasing in incidence in the UK and other developed countries and has a very poor outcome. The primary aims of this project are to deeply sequence tumour and normal genomic DNA (including the precursor condition Barrett’s oesophagus when material is available) to provide a comprehensive catalogue of somatic mutations. This will be achieved through a UK-wide network of hospitals involved in a research collaboration called the OCCAMS consortium. The goal of this project is to use high quality clinical material with accurately annotated clinic-pathological, treatment and outcome data.

  Study EGAS00001000724

• ICGC Oesophageal adenocarcinoma - tumour samples

  The oesophageal project will focus on adenocarcinoma which is increasing in incidence in the UK and other developed countries and has a very poor outcome. The primary aims of this project are to deeply sequence tumour and normal genomic DNA (including the precursor condition Barrett’s oesophagus when material is available) to provide a comprehensive catalogue of somatic mutations. This will be achieved through a UK-wide network of hospitals involved in a research collaboration called the OCCAMS consortium. The goal of this project is to use high quality clinical material with accurately annotated clinic-pathological, treatment and outcome data.

  Study EGAS00001000725

• Sequencing data for ICGC Oesophageal Adenocarcinoma tissue samples - pilot normal and pre/post-chemo

  Dataset EGAD00001000704

• Whole-blood RNA-seq in AtezoBev-treated HCC

  This dataset contains RNA-sequencing BAM files generated from paired whole-blood RNA samples collected from patients with advanced hepatocellular carcinoma treated with first-line atezolizumab–bevacizumab immunotherapy. Samples were collected at baseline before the first infusion (T0) and immediately prior to the second infusion (T1). The dataset includes paired longitudinal samples from 24 patients, comprising 13 responders and 11 progressors. RNA sequencing was performed by Novogene using a GlobinClear-based non-directional mRNA library preparation strategy. These data support transcriptomic analyses of circulating immune activation, treatment response and resistance mechanisms under atezolizumab–bevacizumab therapy.

  Study EGAS00001008486

• Sequencing data for oesophageal and related samples - Rogerson et al (RNA)

  Data supporting: "Repurposing of KLF5 activates a cell cycle signature during the progression from Barrett’s Oesophagus to Oesophageal Adenocarcinoma." Rogerson et al. RNA-seq data 2 samples

  Dataset EGAD00001005915

• Sequencing data for oesophageal and related samples - Ng et al (WGS Oxford Nanopore)

  Data supporting: "Disentangling oncogenic amplicons in esophageal adenocarcinoma" Ng et al (WGS Oxford Nanopore)

  Dataset EGAD00001011313

• Sequencing data for oesophageal and related samples - Ng et al (WGS Illumina)

  Data supporting: "Disentangling oncogenic amplicons in esophageal adenocarcinoma" Ng et al (WGS Illumina)

  Dataset EGAD00001011314

• Whole-blood RNA-seq in AtezoBev-treated HCC

  This dataset contains RNA-sequencing BAM files generated from paired whole-blood RNA samples collected from patients with advanced hepatocellular carcinoma treated with first-line atezolizumab–bevacizumab immunotherapy. Samples were collected at baseline before the first infusion (T0) and immediately prior to the second infusion (T1). The dataset includes paired longitudinal samples from 24 patients, comprising 13 responders and 11 progressors. RNA sequencing was performed by Novogene using a GlobinClear-based non-directional mRNA library preparation strategy. These data support transcriptomic analyses of circulating immune activation, treatment response and resistance mechanisms under atezolizumab–bevacizumab therapy.

  Dataset EGAD00001016415

• Single-cell RNA sequencing of large B cell lymphoma relapsed after CAR T-cell therapy and in vitro serial killing models

  Relapsed/refractory large B-cell lymphoma (rrLBCL) following CAR T-cell therapy remains associated with a poor prognosis. Using single-cell RNA sequencing (scRNA-seq), we characterized the T-cell profiles in 7 post-CAR T rrLBCL and 5 CAR T-naïve rrLBCL, revealing dysfunctional transcriptional features in T cells after CAR T-cell therapy. In addition, the dataset includes T cell profiling of CAR T-cell products and samples obtained after serial killing assays in vitro, performed with or without supplementation with non-IL2Rα agonist pegenzileukin. These analyses demonstrated that IL-2 was the most depleted cytokine following the coculture assay.

  Study EGAS50000001982

• Single-cell RNA sequencing of large B cell lymphoma relapsed after CAR T-cell therapy and in vitro serial killing models

  Relapsed/refractory large B-cell lymphoma (rrLBCL) following CAR T-cell therapy remains associated with a poor prognosis. Using single-cell RNA sequencing (scRNA-seq), we characterized the T-cell profiles in 7 post-CAR T rrLBCL and 5 CAR T-naïve rrLBCL, revealing dysfunctional transcriptional features in T cells after CAR T-cell therapy. In addition, the dataset includes T cell profiling of CAR T-cell products and samples obtained after serial killing assays in vitro, performed with or without supplementation with non-IL2Rα agonist pegenzileukin. These analyses demonstrated that IL-2 was the most depleted cytokine following the coculture assay.

  Dataset EGAD50000002866

• MOSAIC Window Mesothelioma Data

  This dataset will include Spatial Transcriptomics from the 10x Genomics Visium SD technology, Single-Cell RNA-Seq from the 10x Genomics Chromium Flex protocol, Bulk RNA-Seq (sequenced on Illumina), WES (sequenced on Illumina), H&E, and Clinical data from 10 Mesothelioma patients. For Visium and Chromium data we are sharing the outputs of respectively Space Ranger and Cell Ranger. For Bulk RNA-Seq we are including processed files such as counts.tsv, FPKM.tsv, fusion_genes.tsv, TPM count matrix.tsv, DESeq2 count matrix.tsv, multiqc_report. For WES, we are sharing the presence or absence of single nucleotide variants (SNVs), small insertions and deletions (indels), and copy number variants (CNVs).* Researchers from private or public institutions outside the MOSAIC Consortium will be able to apply to access this data and, pending approval, use the data for their research.

  Dataset EGAD50000001706

• MOSAIC Window Glioblastoma Data

  This dataset will include Spatial Transcriptomics, Single-Cell RNA-Seq, Bulk RNA-Seq, Clinical data, WES, and H&E data from 10 Glioblastoma (GBM) Cancer patients. Researchers from private or public institutions outside the MOSAIC Consortium will be able to apply to access this data and, pending approval, use the data for their research.

  Dataset EGAD50000001352

• Multi-omic and functional analysis for classification and treatment of sarcomas with FUS-TFCP2 or EWSR1-TFCP2 fusions(H021/INF)

  Many rare cancers are not well understood, and pathogenesis-directed therapies are often lacking, resulting in poor patient outcomes. Leveraging two (inter)national precision oncology trials that enroll large numbers of rare cancers, we investigated the clinical, histopathologic, molecular, and functional characteristics of rhabdomyosarcoma (RMS) with fusions of FUS or EWSR1 to the TFCP2 transcription factor, a recently discovered ultra-rare entity whose classification, pathogenesis, and optimal treatment are unclear. Unusually for fusion-driven sarcomas, most cases had highly rearranged genomes, including chromothripsis, and signs of defective homologous recombination DNA repair. All tumors showed extreme expression of a truncated TERT variant and the ALK receptor tyrosine kinase, which was additionally affected by intragenic deletions and aberrant splicing, resulting in the expression of shortened variants in 58% of cases. Three ALK variants were oncogenic in immortalized cells, and patient-derived tumor cells expressing two variants responded to certain ALK inhibitors. Other recurrent alterations included CDKN2A/MTAP co-deletions and mutations in PAPPA2, encoding an IGFBP5-specific proteinase, in 67% and 25% of cases, respectively. DNA methylation analysis, along with 19 other soft-tissue sarcoma classes, revealed a close relationship with undifferentiated sarcoma but not other RMS subtypes, suggesting that TFCP2-rearranged RMS is a separate entity, possibly arising from a distinct cell of origin. Expression of TFCP2 fusions in immortalized human cells blocked late myogenic differentiation and significantly induced genes that were also highly expressed in patient tumors, including ALK, TERT, and two known regulators of skeletal muscle cells, IGFBP5 and PTH1R. Genome-wide chromatin profiling demonstrated direct binding of FUS-TFCP2 to the ALK and TERT loci outside their regular promoters, which correlated with the expression of alternative transcript variants. Finally, FUS-TFCP2 inhibited the repair of DNA double-strand breaks in immortalized cells, rendering them sensitive to treatment with cisplatin. This study provides insight into the pathogenesis and therapeutic vulnerabilities of a new RMS subtype and illustrates the value of linking comprehensive molecular diagnostics and functional annotation within multicenter consortia to improve the understanding and clinical management of rare cancers.

  Study EGAS00001006939

• Genome-wide genotype data of 125 Agotes individuals presented in Portela-Estevez et al. 2026

  Genome-wide genotype data of 125 Agotes individuals presented in Portela-Estevez et al. 2026

  Dataset EGAD00010002839

• Paediatric MN1::ZNF341-associated cancer scRNA-seq

  A lethal round-cell malignancy with an MN1::ZNF341 fusion has recently been reported. Here, using single-cell RNA sequencing data derived from monozygotic twins, we find the tumour to be transcriptionally distinct from neuroblastoma. Instead, it exhibits steroidogenic differentiation. These data, in combination with the clinical, radiological, histopathological and additional molecular findings, corroborate suggestions that this tumour is a distinct and aggressive childhood cancer.

  Dataset EGAD00001016421

• Subset of dataset EGAD00001010108

  This is a subset of data from EGAD00001010108 containing WES/RNA/WGS TFCP2-rearranged rhabdomyosarcoma samples.

  Dataset EGAD00001016432

• Transcriptomic analysis of liver CD8+ T cells

  Sorted single CD8+T cells expressing CD14 from human liver for SMARTSeq2. Livers processed: Kucykowicz et al STAR Prot 2022:pubmed.ncbi.nlm.nih.gov/35516846/ Published: Pallett et al Nature 2022 Tissue CD14+CD8+T-cells are reprogrammed by myeloid cells and modulated by LPS The liver is bathed in bacterial products including LPS transported from the intestinal portal vasculature, but maintains a state of tolerance exploited by persistent pathogens and tumours1,2,3,4. The cellular basis mediating this tolerance, yet allowing a switch to immunity or immunopathology, needs to be better understood for successful immunotherapy of liver diseases. Here we show that a variable proportion of CD8+T-cells compartmentalised in the human liver co-stain for CD14 and other prototypic myeloid membrane proteins; CD14+CD8+T-cells preferentially accumulate within the donor pool in liver allografts, amongst hepatic virus-specific and tumour-infiltrating responses, and in cirrhotic ascites. CD14+CD8+T-cells exhibit increased turnover, activation and constitutive immunomodulatory features with high homeostatic IL-10/IL-2 production directly ex vivo, and an enhanced capacity to rapidly produce antiviral/anti-tumour cytokines upon TCR engagement. This CD14+CD8+T-cell profile can be recapitulated by acquisition of membrane proteins, including the LPS receptor complex, from mononuclear phagocytes, resulting in augmented tumour killing by TCR-redirected T-cells in vitro. CD14+CD8+T-cells express integrins and chemokine receptors favouring interactions with the local stroma, which can promote their induction through CXCL12. LPS can also increase the frequency of CD14+CD8+T-cells in vitro and in vivo, and skew their function towards the production of chemotactic and regenerative cytokines. Thus, bacterial products in the gut-liver axis and tissue stromal factors can tune liver immunity by driving myeloid instruction of CD8+T-cells with immunomodulatory capacity. For the analysis of the single cell transcriptome two intrahepatic perfusate samples were isolated and frozen at -80 'C for storage prior to transportation to Newcastle, UK. Once thawed in pre-warmed HBSS containing 0.001% DNaseI, intrahepatic leukocytes were sorted by FACS to index classical mononuclear phagocytes (MNP) defined as Singlets, CD3-CD56-CD19-CD14hiHLA-DR+ or CD14± CD8+T-cells as follows: Singlets, CD3+CD56-CD19-CD4-CD8+V7.2- and split in to CD14± based on an isotype control. Single cells were sorted into 96-well skirted LoBind plates (Eppendorf) containing 5 µL lysis buffer (TCL buffer [Qiagen], supplemented with 1% b-mercaptoethanol [Sigma Aldrich; Merck]) on a BD Bioscience FACSFusion. The sorted plates were subsequently immediately sealed, centrifuged, and placed on dry ice to flash-freeze the cell lysate and stored at -80 'C. A modified SMART-seq2 protocol57 was performed on the single flow cytometry sorted-cells as previously described58. After cDNA generation, libraries were prepared (384 cells per library) using the Illumina Nextera XT kit (Illumina). Each library was sequenced to achieve a minimum depth of 1-2 million raw reads per cell using an Illumina HiSeq 4000 using v. 4 SBS chemistry to generate 75-bp paired-end reads.

  Study EGAS00001006885

• NOTCH1 fusion genes in pediatric T-cell lymphoblastic lymphoma hallmark a common high-risk subgroup with blood TARC levels as possible biomarker

  T-cell lymphoblastic lymphoma (T-LBL) is a common pediatric malignancy accounting for approximately 20% of the non-Hodgkin lymphomas during childhood. Survival rates of T-LBL are ~80%, but outcome after relapse is dismal, with salvage rates reaching only ~15. Considering the extremely poor prognosis after relapse and absence of clinically relevant high-risk genetics, there is an urgent need for the identification of molecular risk factors and new prognostic biomarkers in T-LBL, as well as identification of new therapeutic strategies. In this study we present a novel entity of high-risk pediatric T-LBL patients characterized by previously unknown NOTCH1 gene fusions and highly elevated blood TARC levels

  Study EGAS00001007703

• Mechanisms of resistance to pembrolizumab treatment in classical Hodgkin Lymphoma

  In this project we are applying whole exome sequencing (WES) on plasma-derived ctDNA samples to identify mutations that drive resistance to pembrolizumab treatment in classical Hodgkin Lymphoma

  Study EGAS50000001985

• Whole-exome sequencing (WES) data from a classical Hodgkin lymphoma patient obtained before pembrolizumab treatment and at relapse

  This dataset contains raw paired-end whole-exome sequencing (WES) FASTQ files generated from plasma-derived cell-free DNA (cfDNA) collected from a patient with classical Hodgkin lymphoma before pembrolizumab treatment and at the time of relapse, together with a matched normal sample. Libraries were prepared using a whole-exome capture kit and sequenced on the Element AVITI platform to generate 2 × 150 bp paired-end reads. The submitted data comprise the primary sequencing output in gzipped FASTQ format.

  Dataset EGAD50000002869

• ICGC Oesophageal adenocarcinoma - pilot samples

  The oesophageal project will focus on adenocarcinoma which is increasing in incidence in the UK and other developed countries and has a very poor outcome. The primary aims of this project are to deeply sequence tumour and normal genomic DNA (including the precursor condition Barrett's oesophagus when material is available) to provide a comprehensive catalogue of somatic mutations. This will be achieved through a UK-wide network of hospitals involved in a research collaboration called the OCCAMS consortium. The goal of this project is to use high quality clinical material with accurately annotated clinic-pathological, treatment and outcome data.

  Study EGAS00001000559

• MutWP1__CRUK_Grand_Challenge_Mutographs_of_Cancer__Oesophageal_adenocarcinoma

  The Mutographs project aims to advance our understanding of the causes of cancer through studies of mutational signatures. Led by Mike Stratton, together with Paul Brennan, Ludmil Alexandrov, Allan Balmain, David Phillips and Peter Campbell, this large-scale international research endeavour was awarded a Cancer Research UK Grand Challenge. Different patterns of somatic mutation are generated by the different environmental, lifestyle and genetic factors that cause cancer, many of them are still unknown. Within Mutographs, the International Agency for Research on Cancer is coordinating the recruitment of 5000 individuals with cancer (colorectal, renal, pancreatic, oesophageal adenocarcinoma or oesophageal squamous cancers) across 5 continents to explore whether different mutational signatures explain marked variation in incidence. In brief, through an international network of collaborators around the world, biological materials are collected, along with demographic, histological, clinical and questionnaire data. Whole genome sequences of tumour-germline DNA pairs are generated at the Wellcome Trust Sanger Institute (40X and 20X depth respectively). Somatic mutational signatures are subsequently extracted by non-negative matrix factorisation methods and correlated with risk factors data. Through an enhanced understanding of cancer aetiology, Mutographs unprecedented effort is anticipated to outline modifiable risk factors, lead to new approaches to prevent cancer, and provide opportunities to empower early detection, refine high-risk groups and contribute to further therapeutic development.

  Study EGAS00001003702

• ICGC Oesophageal adenocarcinoma - normal samples

  The oesophageal project will focus on adenocarcinoma which is increasing in incidence in the UK and other developed countries and has a very poor outcome. The primary aims of this project are to deeply sequence tumour and normal genomic DNA (including the precursor condition Barrett’s oesophagus when material is available) to provide a comprehensive catalogue of somatic mutations. This will be achieved through a UK-wide network of hospitals involved in a research collaboration called the OCCAMS consortium. The goal of this project is to use high quality clinical material with accurately annotated clinic-pathological, treatment and outcome data. - This study contains the Normal tissue samples.

  Study EGAS00001000723

• Familial Melanoma Sequencing

  In this experiment we have sequenced the exome of 15 individuals from eight families who have familial melanoma. By sequencing the exome we hope to be able to identify new genes that are associated with this disease.

  Study EGAS00001000017

• Elevated circulating tumor cells reflect high proliferation and genomic complexity in multiple myeloma - WGS validation cohort

  This reposiroty contains bulk WGS data generated by Blood Cancer Research Group (Ostrava, Czech Republic) as a part of publication named "Elevated circulating tumor cells reflect high proliferation and genomic complexity in multiple myeloma" published in Hemapshere.

  Study EGAS50000001211

• Elevated circulating tumor cells reflect high proliferation and genomic complexity in multiple myeloma - RNA validation cohort

  This reposiroty contains bulk RNA data generated by Blood Cancer Research Group (Ostrava, Czech Republic) as a part of publication named "Elevated circulating tumor cells reflect high proliferation and genomic complexity in multiple myeloma" published in Hemapshere.

  Study EGAS50000001212

• Elevated circulating tumor cells reflect high proliferation and genomic complexity in multiple myeloma - WGS

  This reposiroty contains bulk WGS data generated by Blood Cancer Research Group (Ostrava, Czech Republic) as a part of publication named "Elevated circulating tumor cells reflect high proliferation and genomic complexity in multiple myeloma" published in Hemapshere. The dataset contains 11 tumor-normal sample pairs.

  Dataset EGAD50000001724

• Elevated circulating tumor cells reflect high proliferation and genomic complexity in multiple myeloma - RNA

  This reposiroty contains bulk RNA data generated by Blood Cancer Research Group (Ostrava, Czech Republic) as a part of publication named "Elevated circulating tumor cells reflect high proliferation and genomic complexity in multiple myeloma" published in Hemapshere. The dataset contains RNAseq samples from bone marrows.

  Dataset EGAD50000001725

• Bulk RNA sequencing of 36 multi-region IPMN–PDAC tumours comprising 160 sequencing runs

  This dataset contains bulk RNA sequencing data generated from 36 multi-region tumour samples obtained from patients with intraductal papillary mucinous neoplasms (IPMN) and associated pancreatic ductal adenocarcinoma (PDAC). A total of 160 sequencing runs are included. Libraries were prepared from poly(A)-selected RNA and sequenced on an Illumina platform. The data are provided as raw sequencing files for downstream transcriptomic analyses.

  Dataset EGAD50000002215

• EGA dataset for High Grade Serous Ovarian Carcinomas Originate in the Fallopian Tube

  The dataset for High Grade Serous Ovarian Carcinomas Originate in the Fallopian Tube includes 46 bam files from next-generation sequencing on the Illumina HiSeq2500. The samples analyzed include multiple lesions from nine patients, five with high grade serous ovarian carcinoma and four who are BRCA-carriers.

  Dataset EGAD00001003792

• Integrated Genomic, Epigenetic, and Expression Analyses of Ovarian Cancer Cell Lines

  In this dataset there are 55 whole genome sequencing samples of epithelial ovarian carcinoma (bam files).

  Dataset EGAD00001004532

• Genome and transcriptome sequence data from a unknown – likely pancreatobiliary / intrahepatic cholangiocarcinoma in liver patient

  Genome and transcriptome sequence data from a unknown – likely pancreatobiliary / intrahepatic cholangiocarcinoma in liver patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001010989

• Dataset for "Characterizing the cfDNA fragmentome in patients with hepatocellular carcinoma"

  The dataset includes 63 BAM files from Oxford Nanopore PromethION whole-genome sequencing, generated by base calling POD5 files with Dorado (super-accurate, modified base model v5.0.0_5mCG_5hmCG@v3) and aligning reads to the hg19 reference genome.

  Dataset EGAD00001015823

• Genome and transcriptome sequence data from a invasive metastatic adenocarcinoma, originating from extramammary paget’s disease patient

  Genome and transcriptome sequence data from a invasive metastatic adenocarcinoma, originating from extramammary paget’s disease patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001015940

• Genome and transcriptome sequence data from a metastatic breast carcinoma patient

  Genome and transcriptome sequence data from a metastatic breast carcinoma patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001016179

• Genome and transcriptome sequence data from a metastatic breast carcinoma patient

  Genome and transcriptome sequence data from a metastatic breast carcinoma patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001016181

• Genome and transcriptome sequence data from a metastatic colorectal carcinoma patient

  Genome and transcriptome sequence data from a metastatic colorectal carcinoma patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001016183

• Genome and transcriptome sequence data from a metastatic adenocarcinoma of the sigmoid colon patient

  Genome and transcriptome sequence data from a metastatic adenocarcinoma of the sigmoid colon patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001016190

• Genome and transcriptome sequence data from a metastatic melanoma patient

  Genome and transcriptome sequence data from a metastatic melanoma patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001016194

• Genome and transcriptome sequence data from a pancreatic ductal adenocarcinoma patient

  Genome and transcriptome sequence data from a pancreatic ductal adenocarcinoma patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001016195

• Genome and transcriptome sequence data from a metastatic colon adenocarcinoma patient

  Genome and transcriptome sequence data from a metastatic colon adenocarcinoma patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001016196

• Genome and transcriptome sequence data from a metastatic colon adenocarcinoma patient

  Genome and transcriptome sequence data from a metastatic colon adenocarcinoma patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001016197

• Genome and transcriptome sequence data from a metastatic adenocarcinoma of the lung patient

  Genome and transcriptome sequence data from a metastatic adenocarcinoma of the lung patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001016200

• Genome and transcriptome sequence data from a pancreatic adenocarcinoma patient

  Genome and transcriptome sequence data from a pancreatic adenocarcinoma patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001016201

• Genome and transcriptome sequence data from a metastatic rectal adenocarcinoma patient

  Genome and transcriptome sequence data from a metastatic rectal adenocarcinoma patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001016389

• Genome and transcriptome sequence data from a metastatic low-grade serous carcinoma of ovarian origin patient

  Genome and transcriptome sequence data from a metastatic low-grade serous carcinoma of ovarian origin patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001016357

• Genome and transcriptome sequence data from a nasal vestibule squamous cell carcinoma patient

  Genome and transcriptome sequence data from a nasal vestibule squamous cell carcinoma patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001016359

• Genome and transcriptome sequence data from a pancreatic adenocarcinoma metastatic to the liver patient

  Genome and transcriptome sequence data from a pancreatic adenocarcinoma metastatic to the liver patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001016363

• Genome and transcriptome sequence data from a metastatic high-grade synovial sarcoma patient

  Genome and transcriptome sequence data from a metastatic high-grade synovial sarcoma patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001016365

• Genome and transcriptome sequence data from a metastatic rectal carcinoma with metastasis to the liver patient

  Genome and transcriptome sequence data from a metastatic rectal carcinoma with metastasis to the liver patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001016383

• Genome and transcriptome sequence data from a metastatic colorectal adenocarcinoma patient

  Genome and transcriptome sequence data from a metastatic colorectal adenocarcinoma patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001016384

• Genome and transcriptome sequence data from a metastatic neuroendocrine carcinoma of unknown primary patient

  Genome and transcriptome sequence data from a metastatic neuroendocrine carcinoma of unknown primary patient,generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001002975