Evaluation of triple negative breast cancer with heterogeneous immune infiltration
Identification of potential RNA markers fir TILs infiltration in patients with triple negative breast cancer with heterogeneous immune infiltration.
Study
EGAS00001007159
Lung_Rearrangement_Study
Genomic libraries (500 bps) will be generated from total genomic DNA derived from cancer samples and subjected to 37 bp, paired end sequencing on the llumina GA. Paired reads will be mapped to build 37 of the human reference genome to facilitate the generation of genome wide copy number information, and the identification of novel rearranged cancer genes and gene fusions.
Study
EGAS00001000005
CLL_Cancer_Whole_Genome_Sequencing
Genomic libraries (500 bps) will be generated from total genomic DNA derived from a range of cancer samples and subjected paired end sequencing on the llumina GA. Paired reads will be mapped to build 37 of the human reference genome to facilitate the generation of genome wide copy number information, and the identification of novel rearranged cancer genes and gene fusions.
Study
EGAS00001000014
Circulating RNAs prior to endometrial cancer diagnosis
We analyzed circulating RNA levels using small RNA sequencing, targeting RNA in the size range 17 to 47 nucleotides, in samples collected prior to endometrial cancer diagnosis compared to cancer-free controls. The analysis included 316 cases with samples collected 1-11 years prior to diagnosis , and 316 matched controls, both from the Janus Serum Bank Cohort in Norway.
Study
EGAS50000000267
Burden_of_Disease_in_Sarcoma
Genomic libraries (500 bps) will be generated from total genomic DNA derived from cancer samples and subjected to 50 bp, paired end sequencing on the llumina HiSeq 2000. Paired reads will be mapped to build 37 of the human reference genome to facilitate the generation of genome wide copy number information, and the identification of novel rearranged cancer genes and gene fusions.
Study
EGAS00001000087
Primary_Lung_Cancer_whole_genome_study
Genomic libraries (500 bps) will be generated from total genomic DNA derived from lung cancer patients and subjected to short paired end sequencing on the llumina platform. Paired reads will be mapped to build 37 of the human reference genome to facilitate the generation of genome wide copy number information, and the identification of novel rearranged cancer genes and gene fusions.
Study
EGAS00001000354
Cancer_Exome_Resequencing
Genomic libraries (500 bps) will be generated from total genomic DNA derived from a range of cancer samples and subjected paired end sequencing on the llumina GA. Paired reads will be mapped to build 37 of the human reference genome to facilitate the generation of genome wide copy number information, and the identification of novel rearranged cancer genes and gene fusions.
Study
EGAS00001000206
Somatic_mutation_and_clonal_evolution_in_the_human_bladder_WES
In this study, we aim to characterise the landscape of mutation and clonal selection in the human bladder. The data in this study will be generated by whole-exome sequencing of laser-dissected microbiopsies from the bladder. The samples utilised in this study will include urothelium from transplant donors with no history of bladder cancer and cystectomy specimens from patients with bladder cancer.
Study
EGAS00001002842
Lung_Plasma_rearrangement_screen
Genomic libraries (500 bps) will be generated from total genomic DNA derived from lung cancer patients and subjected to short paired end sequencing on the llumina platform. Paired reads will be mapped to build 37 of the human reference genome to facilitate the generation of genome wide copy number information, and the identification of novel rearranged cancer genes and gene fusions.
Study
EGAS00001000289
Osteosarcoma_whole_genome_rearrangement_screen
Genomic libraries (500 bps) will be generated from total genomic DNA derived from Osteosarcoma cancer patients and subjected to short paired end sequencing on the llumina platform. Paired reads will be mapped to build 37 of the human reference genome to facilitate the generation of genome wide copy number information, and the identification of novel rearranged cancer genes and gene fusions.
Study
EGAS00001000330
PLCRC_study
Genomic libraries (500 bps) will be generated from total genomic DNA derived from Colorectal cancer patients and subjected to short paired end sequencing on the llumina platform. Paired reads will be mapped to build 37 of the human reference genome to facilitate the generation of genome wide copy number information, and the identification of novel rearranged cancer genes and gene fusions.
Study
EGAS00001000612
Somatic_mutation_and_clonal_evolution_in_the_human_bladder_WGS
In this study, we aim to characterise the landscape of mutation and clonal selection in the human bladder. The data in this study will be generated by whole-genome sequencing of laser-dissected microbiopsies from the bladder. The samples utilised in this study will include urothelium from transplant donors with no history of bladder cancer and cystectomy specimens from patients with bladder cancer.
Study
EGAS00001002658
Massive Genomic Rearrangment Acquired in a Single Catastrophic Event During Cancer Development
Cancer is driven by mutation. Using Agilent exome hybridisation capture and Illumina GA massively parallel sequencing technology, we aim to sequence ~1600 microRNAs plus the protein coding genome of 25 matched human renal cancer samples. Bespoke algorithms are being developed to identify the somatically acquired point mutations, insertions and deletions in these samples. This project will give unprecedented insights into mutational processes, cellular repair pathways and gene networks associated with renal cancer development.Agilent whole exome hybridisation capture will be performed on genomic DNA derived from 25 renal cancers and matched normal DNA from the same patients. Three lanes of Illumina GA sequencing will be performed on the resulting 50 exome libraries and mapped to build 37 of the human reference genome to facilitate the identification of novel cancer genes.
Study
EGAS00000000029
ProstOmics: spatial and bulk multi-omics of prostate cancer
In this ERC-funded ProstOmics project we have used spatial and bulk multi-omics on fresh frozen prostate cancer samples to investigate cancer biology and find for biomarkers to improve patient treatment. All tissue material were collected from prostate cancer patients undergoing radical prostatectomy who had not received any prior cancer-specific treatment.Of the 498 prostate tissue samples (114 patients) included in our project, 176 samples (N=37 patients) have been analyzed with bulk transcriptomics (RNA-seq). Some of these 176 samples were also analyzed with spatial transcriptomics (n=32, N=8, Visium 10x RNA-seq) and DNA methylomics (n=96, N=24, array). All datasets include metadata for histopathological evaluation. Patient metadata include information of age at surgery, time (months) until reported relapse, pre-surgery PSA and post-surgery T-stage.
Study
EGAS50000000413
Heterogeneous Genomic Evolution and Immune Microenvironments in Metastatic Lung Cancer
The mechanism underlying the occurrence of lung cancer metastasis to different tissues/organs remains elusive. We investigated the genomic evolution and immune microenvironments of paired primary-metastatic tumors by employing multi-region whole-exome sequencing in 179 samples of 106 tumors from 51 lung cancer patients and subsequent immunohistochemistry assays in 70 of them. Our data revealed differences in genomic landscapes, molecular determinants, evolutionary dynamics, and lymphocyte infiltration among different metastatic sites. We demonstrated commonly late arising of metastatic seeding of lung cancer with quantitative evidence. Most distant metastases originated from independent origins of earlier lymph node spreads. Immune-heterogeneity and -homogeneity were primarily driven by arm-level and focal copy number events in primary tumors, respectively. These findings implied the combinatorial role of multiple factors in shaping patterns of dissemination and advanced the clinical evaluation and intervention of lung cancer metastasis.
Study
EGAS00001004228
Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X
Familial colorectal cancer type X (FCCTX) is characterized by clinical features of hereditary non-polyposis colorectal cancer with a yet undefined genetic background. Here, using an integrative genomics strategy, we identify the SEMA4A p.Val78Met germline mutation in an Austrian kindred with FCCTX. Compared with wild-type protein, SEMA4AV78M demonstrates significantly increased MAPK/Erk and PI3K/Akt signaling as well as cell cycle progression of SEMA4A deficient HCT-116 colorectal cancer cells. In a cohort of 53 patients with FCCTX we depict two further SEMA4A mutations, p.Gly484Ala and p.Ser326Phe, and the single nucleotide polymorphism (SNP) p.Pro682Ser. This SNP is highly associated with the FCCTX phenotype exhibiting increased risk for colorectal cancer (OR 6.79, 95% CI 2.63 to 17.52). Our study shows previously unidentified germline variants in SEMA4A predisposing to FCCTX which has implications for surveillance strategies of patients and their families.
Study
EGAS00001000957
Molecular Profiles of BRCA1-Associated Ovarian Cancer Treated by Platinum-Based Therapy
Study
EGAS00001003980
Genomic profiling of patient-derived xenografts and organoids in prostate cancer
Study
EGAS00001004673
Prostate Cancer mitochondrial DNA heteroplasmies and mitochondrial gene expression
Study
EGAS00001004186
CITE-seq for peripheral blood samples of 5 breast cancer patients
Study
EGAS00001006241
Stabilising selection causes grossly altered but stable karyotypes in metastatic colorectal cancer
Study
EGAS00001004219
Idiosyncratic and generic single nuclei and spatial transcriptional patterns in papillary and anaplastic thyroid cancers
Thyroid cancer is the most common endocrine malignancy. This dataset encompasses two types of thyroid cancer : anaplastic which is the most de-differentiated and aggressive one, and papillary which is the most common one. We profiled 14 patients, including 10 papillary and 4 anaplastic thyroid carcinomas, using both single nuclei RNA sequencing and spatial transcriptomics to link single cell resolution RNA sequencing with tissue morphology and better understand inter and intratumoral thyroid cancer heterogeneity.
Study
EGAS00001007574
TOTHER3
Patritumab deruxtecan in HER2-negative breast cancer: part B results of the window-of-opportunity SOLTI TOT-HER3 trial and biological determinants of early response
Study
EGAS50000000385
Acetalax and bisacodyl triple-negative breast cancer RNA-Seq
Analysis of gene expression in triple negative breast cancer xenografts exhibiting good or bad response upon acetalax and bisacodyl treament.
Study
EGAS50000000618
Osteosarcoma_RNAseq
We propose to definitively characterise the somatic genetics of Osteosarcoma cancer through generation of comprehensive catalogues of somatic mutations by high coverage genome and transcriptome sequencing.
Study
EGAS00001000615