8213 results for "canc*"

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• Non-invasive anal (pre)cancer dataset DAC

  Dac EGAC00001003635

• Synthetic longitudinal breast cancer whole-genome sequencing dataset

  Synthetic longitudinal breast cancer whole-genome sequencing dataset generated at the Barcelona Supercomputing Center (BSC). This study contains fully simulated longitudinal whole-genome sequencing data for one synthetic female breast cancer patient. It includes one matched-normal paired-end sample generated at a nominal depth of 30× and three longitudinal tumour samples generated at a nominal depth of 60×.

  Dataset EGAD50000002802

• Division of Molecular Oncology, National Cancer Center Research Institute Data Access Committee

  Dac EGAC00001001272

• RAIDs cervical cancer project

  The RAIDS project, launched by the Curie Institute in 2013, aims to molecularly characterize cervical cancer (CC) and improve patient risk stratification. As part of the Bio-RAIDS study (NCT02428842), next-generation sequencing was performed on tumor samples (whole-exome sequencing, shallow whole-genome sequencing and RNA-sequencing) identified frequent alterations, including PIK3CA (30%) and prognostic biomarkers like TERT, linked to poor progression-free survival. Over 50 clinically targetable mutations were found, offering new therapeutic opportunities. Transcriptomic analysis also linked specific genes and pathways to prognosis and tumor necrosis.

  Study EGAS50000001012

• RAIDs transcriptomic dataset

  Here, we describe molecular alterations in 270 cervical cancer patients using 270 tumor frozen samples using RNA-sequencing technology. Tumor samples were obtained from cervical tumor tissue collected at diagnosis. FASTQ files are deposited in the dataset.

  Dataset EGAD50000001479

• RAIDs Whole Exome Sequencing dataset

  Here, we describe molecular alterations in 291 cervical cancer patients using 291 paired tumor and constitutional frozen samples sequenced using Whole Exome Sequencing technology. Tumor samples were obtained from cervical tumor tissue collected at diagnosis. FASTQ files are deposited files are deposited in the dataset

  Dataset EGAD50000001480

• RAIDs shallow Whole Genome Sequencing dataset

  shallow Whole Genome sequencing of 302 patients with cervival cancer. Tissue cervical cancer at diagnosis....

  Dataset EGAD50000001481

• Colorectal Cancer, NDS Oxford

  Data Access Committee governing the terms on which access will be granted to the genotype data generated within the Colorectal Cancer studies research group at the Nuffield Department of Surgical Sciences (NDS), University of Oxford.

  Dac EGAC50000001075

• Mutational order shapes cell state and chromatin accessibility during early colorectal cancer evolution

  Using CRISPR mediated gene editing in patient-derived human colon organoids, we investigate how mutational order shapes cell state and downstream phenotype. We find that loss of FBXW7 on a wild-type background produces minimal phenotypic or transcriptomic change but induces a subtle shift towards a foetal-like, regenerative stem cell identity. Strikingly, the order of mutation acquisition produces markedly different outcomes. 'FA' organoids (i.e. FBXW7 loss preceding APC mutation) retain a near-normal morphology and transcriptional profile. In contrast, 'AF' organoids adopt a proliferative stem cell state and a more transformed phenotype, despite identical final genotype. These differences were associated with distinct chromatin accessibility landscapes, and reflect a cell state-dependent constraint on the transcriptional consequences of subsequent mutations.

  Study EGAS50000001945

• RNA-seq of Breast Cancer Cells in Bone-Mimetic Matrices

  Bulk RNA sequencing dataset of four breast cancer cell lines (MDA-MB-231, SCP2, MCF7 and BT-4747) cultured in collagen or in collagen-hydroxyapatite (bone mimetic) matrices to model microenvironment-driven gene expression changes.

  Study EGAS50000001966

• RNA sequencing of breast cancer cells in collagen and mineralized matrices

  The dataset includes 45 FASTQ files generated from RNA sequencing (RNA-seq) of breast cancer cells cultured in monolayer, 3D collagen and 3D mineralized extracellular matrices. RNA-seq libraries were prepared using the Illumina Stranded Total RNA Prep with Ribo-Zero Plus (Illumina). Sequencing was performed on Illumina NextSeq 550 System using NextSeq 500/550 High-Output v2.5 Kit - 150 cycles (Illumina)

  Dataset EGAD50000002847

• MD Anderson Data Access Committee: Pembrolizumab in Advanced Rare Cancers

  Dac EGAC50000000860

• Immune-driven response to chemoradiotherapy in POLE-mutated rectal cancer

  This study aimed to investigate the chemoradiotherapy response and potential molecular mechanisms underlying chemoradiotherapy response in POLE exonuclease domain mutation-positive rectal cancer.

  Study JGAS000919

• Research on constructing a genome analysis database for malignant tumors

  Germline pathogenic variants (GPVs) in BRCA1/2 are established cancer predisposition factors; however, their biological and clinical significance in gastric cancer (GC) remain unclear. In particular, the directionality and evolutionary timing of locus-specific loss of heterozygosity (LOH) and their relationships with homologous recombination deficiency (HRD) have not been systematically examined in BRCA1/2-associated GC. We conducted integrative genomic analyses of four GCs from BRCA1/2 GPV carriers using tumour-normal tissue paired whole-exome sequencing and allele-specific copy number profiling. LOH directionality was inferred by integrating the variant allele fraction, tumour purity, and locus-specific copy number. The relative timing of LOH events during tumour evolution was estimated, and HRD was evaluated using genome instability scores and mutational signature analyses.

  Study JGAS000920

• Malignancy of breast cancer cells is increased in a luminal-hybrid state defined by progenitor markers CD146 and keratin 14

  We first analyzed a patient-derived xenograft (PDX)-derived breast cancer cell line by dividing cell populations based on CD146-expression by FACS and found that this marker defines a cellular state with increased expression of a selection of luminal hybrid markers, including KRT14. We then knocked out CD146 or KRT14 in another patient-derived xenograft (PDX)-derived breast cancer cell line to investigate further the role of these markers in the hybrid state. For all these populations, we studied their gene expression by bulk RNA sequencing.

  Study EGAS50000001972

• Transcriptomic characterization of breast cancer cells in a luminal-hybrid state

  Background: We have previously identified a subset of early human breast epithelial progenitors that, despite their luminal affiliation, are enriched for basal markers, including CD146 and keratin 14 (K14). This simultaneous presence of both lineages thus defines a luminal-hybrid state. As luminal progenitors are generally proposed as a cell of origin of breast carcinoma, we examined how cells within this luminal hybrid state relate to breast cancer malignancy. Findings: We first analyzed two patient-derived xenograft (PDX)-derived breast cancer cell lines by dividing cell populations based on CD146-expression by FACS and found that this marker defines a cellular state with increased expression of a selection of luminal hybrid markers, including KRT14. When subjecting the sorted cells to in vitro transwell filter analysis, CD146HI/K14HI luminal hybrid state cells were less invasive. Knocking out either CD146- or K14-expression by CRISPR/Cas9 on a CD146/K14-positive background did not affect the in vivo tumorigenic potential, nor the differentiation state. However, when subjecting the respective sorted populations to a soft agar colony formation assay or as in vivo xenografts, CD146HI/K14HI cells exhibited more growth and metastasis, suggesting that the luminal hybrid state contributes to malignant properties. Conclusions: Our findings demonstrate that multiple components of the luminal hybrid state provide distinct properties to tumor malignancy. The fact that breast cancer can reflect a significant part of the original breast gland differentiation hierarchy may add weight to the argument that the search for novel strategies for treating basal-like breast cancer should include manipulation of cellular differentiation states.

  Dataset EGAD50000002857

• NGS sequencing data of archival FFPE tumor tissue

  The aim of the study was to identify mutations in key ovarian cancer genes (BRCA1, BRCA2,TP53, PTEN, ATM, ATR, NF1) in archival fresh-frozen paraffin embedded (FFPE) tumor tissue from platinum-resistant ovarian cancer patients enrolled in the phase I/II GANNET53 clinical trial. From the enrolled 133 patients, archival FFPE tissue was available and DNA was extracted thereof. The DNA samples passing quality control (n=118) were NGS sequenced using the SureSeq™ Ovarian Cancer Panel and the NGS Library Preparation kit (Oxford Gene Technology), which covers all exons of 7 key ovarian cancer genes for single nucleotide variants (SNV) and indels, and the Illumina MiSeq platform. For the paired-end runs, one Read 1 (R1) and one Read 2 (R2) FASTQ file were created for each sample. FASTQ files were compressed and created with the extension .fastq.gz.

  Dataset EGAD50000001371

• Tissue architecture and immune niches govern ctDNA release in colorectal cancer

  Circulating tumor DNA (ctDNA) is central to liquid biopsy-based cancer detection, yet its release into the bloodstream varies widely and remains poorly understood. To define the tissue-level determinants of ctDNA shedding in colorectal cancer (CRC), we integrated tumor-informed plasma sequencing with detailed histopathology, immunophenotyping, spatial transcriptomics, and in situ mutation detection in resectable stages (I–III). ctDNA detectability increased with tumor burden, and high ctDNA shedders exhibited a distinct architectural and microenvironmental phenotype characterized by expanded necrotic pseudolumina, frequent epithelial barrier disruption, and dense myeloid infiltration. Spatial profiling revealed stress-associated malignant programs and a myeloid-rich immune-luminal niche. In situ sequencing confirmed plasma-detected mutations within pseudoluminal debris, identifying these structures as focal reservoirs of shed DNA. These findings provide a mechanistic framework linking tissue architecture, immune remodelling, and spatially organized cell death to ctDNA release with implications for refining liquid biopsy applications.

  Study EGAS50000001941

• Type 1 interferon perturbates clonal competition by reshaping human blood development

  We studied hematopoietic stem cells, progenitors and immune cells from patients with myeloproliferative neoplasms (MPN) at baseline and following interferon-⍺ (IFN⍺) treatment, the only therapy to deplete mutated stem cells. We deployed single-cell multi-omics methods that distinguish the IFN⍺ effects on mutated stem cells from the admixed wildtype HSCs, with respect to their differentiation, transcriptomes, immunophenotypes, and chromatin accessibility.

  Study EGAS50000002009

• FGFR2b Prevalence in Biliary Tract Cancers

  Patients with intrahepatic cholangiocarcinoma (iCCA) often have limited effective treatment options after first-line therapy. Actionable driver mutations are present in only a small subset of patients with iCCA; therefore, therapeutic strategies such as antibody–drug conjugates (ADCs) that do not exclusively rely on presence of specific oncogenic mutations may be particularly attractive. However, there is a critical lack of knowledge regarding prevalent and actionable cell-surface targets in iCCA. We applied a novel isoform-resolved proteogenomic discovery framework for profiling cell surface targets and identified FGFR2b, a splicing isoform of FGFR2, as a therapeutic target in iCCA that is highly-expressed, tumor-enriched, localized to the membrane, and associated with prognosis. FGFR2b is the dominant isoform in iCCA, and it was present in all patients with FGFR2 fusions. These findings provide a strong rationale for further research and therapeutic development of FGFR2b-targeted biologics, including therapeutic antibodies and ADCs, in iCCA.

  Study EGAS50000002012

• Spatial Biology of Cancer of Unknown Primary

  Dac EGAC50000000720

• IMMUcan BC1 cohort

  The goal of IMMUcan is to understand how the immune system interacts with tumors and how therapeutic interventions influence this interaction. This cohort includes metastatic Triple Negative Breast Cancer (mTNBC) patients, naïve of treatment in the metastatic settings, treated in 1st line with chemotherapy or chemo-immunotherapy Comprehensive profiling data are integrated with longitudinally collected clinical information. Cellular profiling of the same tumor samples was performed using multiplex immunofluorescence imaging, imaging mass cytometry, and H&E staining.

  Study EGAS50000001587

• Studying ctDNA signal in plasam whole genome sequencing from high risk Breast Cancer patients

  We apply fragmentomics and minimal residue disease tools to find out signals from ctDNA in high risk Breat Cancer patients.

  Study EGAS50000001830

• Transcriptomics for IMMU-BC1 cohort

  The goal of IMMUcan is to understand how the immune system interacts with tumors and how therapeutic interventions influence this interaction. This cohort includes metastatic Triple Negative Breast Cancer (mTNBC) patients, naïve of treatment in the metastatic settings, treated in 1st line with chemotherapy or chemo-immunotherapy This dataset contains transcriptomics data processed with the STAR pipeline. Two sequencing kits were employed: Roche KAPA for high-quality RNA samples and Takara SMART-Seq Stranded for samples with limited RNA quantities. It contains gene-level counts.

  Dataset EGAD50000002269

• Variant calling for IMMU-BC1 cohort

  The goal of IMMUcan is to understand how the immune system interacts with tumors and how therapeutic interventions influence this interaction. This cohort includes metastatic Triple Negative Breast Cancer (mTNBC) patients, naïve of treatment in the metastatic settings, treated in 1st line with chemotherapy or chemo-immunotherapy This dataset contains whole exome sequencing data from tumor and matching germline samples processed with the Vegan pipeline. It includes SNP and CNV calling.

  Dataset EGAD50000002270

• Biopsy and resection samples of HCC and non-tumor tissue

  A total of 16 patients with primary liver cancer, who first underwent diagnostic biopsy and then surgical resection shortly afterwards (median 27 days) were included. Tumor and non-tumor biopsy and resection tissue were analyzed by RNA sequencing. Total RNA from frozen tumor- and non-tumor tissue from biopsy and resection specimens was extracted using the ZR-Duet DNA and RNA MiniPrep Plus kit (Zymo Research) according to the manufacturer’s instructions. Prior to extraction, frozen tissues were crushed in liquid nitrogen to facilitate lysis. Extracted RNA was quantified using the Qubit Fluorometer (Thermo Fisher Scientific). 200 ng total RNA was used for RNAseq library prep with the TruSeq Stranded Total RNA Library Prep Kit with Ribo-Zero Gold (Illumina) according to the manufacturer’s specifications. Paired-End sequencing was performed on a Novaseq 6000 (Illumina) with 51 cycles at the Genomics Facility Basel according to the manufacturer’s guidelines.

  Dataset EGAD50000002291

• Study cfDNA molecular profiling for finding cancer signal in high risk Breast Cancer patients

  Whole genome sequencing of the matching blood from high risk breast cancer patients

  Dataset EGAD50000002653

• Study cfDNA molecular profiling for finding cancer signal in high risk Breast Cancer patients

  cfmedip methylation profiling CM from plasma cfDNA of high risk breast cancer patients

  Dataset EGAD50000002654

• FGFR2b Project Biliary Tract Cancer RNA Sequencing Data

  FASTQ files of RNA Sequencing data for the FGFR2b project.

  Dataset EGAD50000002899

• Germline WES of serrated polyposis syndrome

  The serrated polyposis syndrome (SPS) is a disease with a mainly unknown inherited genetic basis characterized by the presence of multiple and/or large serrated polyps in the colon and a higher associated risk for colorectal cancer (CRC). The objective of the present study was to identify new SPS/CRC germline predisposition genes by using whole-exome sequencing in two affected SPS patients from the same family.

  Study EGAS50000000765

• SOLTI- Arianna trial

  The main hypothesis of the study is that enzalutamide induces a significant proliferative arrest in HR+/HER2-negative breast cancer falling into the PAM50 HER2-E subtype. Patient population included males or pre/post-menopausal women with advanced HR+/HER2- ABC resistant to endocrine therapy, received ENZ 160 mg/day until disease progression. Patients were assigned to different cohorts according to PAM50 intrinsic subtypes identified in the pre-treatment tumor biopsy: Cohort A included pts with HER2-E and Cohort B pts with Luminal A/B tumors. Centralized molecular assessment was done at pre-treatment and C1D15.

  Study EGAS50000001979

• Study cfDNA molecular profiling for finding cancer signal in high risk Breast Cancer patients

  EM-seq methylation profiling MC of plasma cfDNA of high risk breast cancer patients

  Dataset EGAD50000002655

• Study cfDNA molecular profiling for finding cancer signal in high risk Breast Cancer patients

  Plasma cfDNA WGS profiling of high risk breast cancer patients.

  Dataset EGAD50000002656

• IMMUcan BC2 cohort

  The goal of IMMUcan is to understand how the immune system interacts with tumors and how therapeutic interventions influence this interaction. This cohort includes patients with confirmed localized TNBC (stages I to III) treated with neo-adjuvant therapy Comprehensive profiling data are integrated with longitudinally collected clinical information. Cellular profiling of the same tumor samples was performed using multiplex immunofluorescence imaging, imaging mass cytometry, and H&E staining.

  Study EGAS50000001938

• 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

• RNA-seq from ASCENT cohort

  Bulk RNA sequencing data generated from primary resected non-small cell lung cancer (NSCLC) tumour tissue collected through the ASCENT study.

  Study EGAS50000001969

• 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

• IMMUcan SYNERGY BC1 cohort

  The goal of IMMUcan is to understand how the immune system interacts with tumors and how therapeutic interventions influence this interaction. This cohort includes patients with advanced or metastatic triple-negative breast cancer (TNBC) treated with first-line chemo-immunotherapy trial of durvalumab, paclitaxel, and carboplatin with or without the anti-CD73 antibody oleclumab enrolled in the SYNERGY trial. Comprehensive profiling data are integrated with longitudinally collected clinical information. Cellular profiling of the same tumor samples was performed using multiplex immunofluorescence imaging, imaging mass cytometry, and H&E staining.

  Study EGAS50000002010

• 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

• Non-invasive anal (pre)cancer dataset

  Molecular analysis of DNA from human anal swabs offers a non-invasive method for anal cancer screening. Current guidelines recommend anal swab-based screening and highlight the need for objective biomarkers to improve risk stratification. We performed genome-wide methylation profiling on DNA from 86 anal swab samples, including 40 HSIL-AIN3 cases (high-grade squamous intraepithelial lesions), 39 controls (<=LSIL), and 7 anal cancer patients, using the 850K Infinium MethylationEPIC BeadChip (Illumina). From this analysis, we identified a three-gene methylation classifier that showed strong discriminatory performance in distinguishing HSIL-AIN3 and anal cancer from <=LSIL lesions and successfully identified all anal cancer cases when applied to an independent validation cohort.

  Dataset EGAD00010002832

• Immune Biomarkers in Metastatic Castration-resistant Prostate Cancer

  Background: Metastatic castration-resistant prostate cancer (mCRPC) is a heterogeneous disease in which molecular stratification is needed to improve clinical outcomes. The identification of predictive biomarkers can have a major impact on the care of these patients, but the availability of metastatic tissue samples for research in this setting is limited. Objective: To study the prevalence of immune biomarkers of potential clinical utility to immunotherapy in mCRPC by tumour RNA sequencing, and to determine their association with overall survival (OS).

  Study EGAS50000001269

• 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

• Cancer Genomics Lab at Johns Hopkins

  Dac EGAC00001003656

• Pan Prostate Cancer Group Germany BAM files

  German early-onset prostate cancer whole-genome sequencing samples of the Pan-Prostate Cancer Genome (PPCG) project. Whole Genome Sequencing Illumina data from men with prostate cancer. Samples were taken from primary tissue obtained at prostatectomy with matched blood control.

  Dataset EGAD00001005997