Search Results - EGA European Genome-Phenome Archive

BROCA cancer panel sequencing for 15 samples

BROCA panel sequencing using the BROCA-HR v8 and BROCA-GO v1 versions of the gene panel

Dataset EGAD50000000035

ICGC Prostate Cancer Whole Genome Sequencing

A small subsample of EGAD00001000689. Please do not use.

Dataset EGAD00001000263

MDS_Sequential_Treatment_Validation

Validations of variants identified by exome sequencing in sequential samples derived after treatment cycle with AZA.

Study EGAS00001000703

V2_Colorectal_panel_test

Targeted gene screen of cell line tumour samples for testing the new V2 Colorectal gene panel.

Study EGAS00001001806

Mutational_Analysis_of_Colorectal_PDX_models

Targeted exome sequencing of patient derived xenografts from primary colorectal tumours and liver metastases.

Study EGAS00001001171

Targeted_sequencing_of_in_vitro_colonies___bulks

In this study we will perform targeted sequencing on the bulk samples of in vitro colonies

Study EGAS00001003175

Exploring_the_landscape_of_somatic_mutations_in_normal_tissue_POL_WGS

Somatic mutations (burdens and signatures) and clonal dynamics in individuals with germline DNA polymerase mutations.

Study EGAS00001003682

WES of HCC

WES of HCC by HiSeq 2000,total 71 samples including Hepatocellular carcinoma cell lines and nornal sample(Peripheral Blood or the adjacent tissues of cancer)

Dataset EGAD00001001249

Illumina_WGS_MET-CELL

Whole-genome sequencing on Illumina HiSeq2000/2500 of PDO culture derived from colorectal cancer metastasis sample

Dataset EGAD00001002085

Illumina_WXS_MET

Whole-exome sequencing on Illumina HiSeq2000/2500 of colorectal cancer metastasis sample

Dataset EGAD00001002095

Illumina_WXS_T-CELL

Whole-exome sequencing on Illumina HiSeq2000/2500 of PDO culture derived from colorectal cancer primary tumor sample

Dataset EGAD00001002100

NanoString gene expression of PBMC from bladder cancer and RCC patients

This dataset contains NanoString gene expression of PBMC from patients from IMvigor210, IMvigor211 and IMmotion150 cohorts

Dataset EGAD00001005976

MSI_Cancer_Models___RNAseq

The study will use RNAseq to aid in define determinants of WRN dependency in MSI Cell lines.

Study EGAS00001004180

Whole genome sequencing of colon cancer data

We performed longitudinal genomic analysis of samples from patients with colorectal-derived neoplasias from different stages through metastasis and treatment.

Dataset EGAD50000002141

SMPaeds PanelSeq of cfDNA at relapse with UMIs

Deep sequencing of a targeted panel of 67 paediatric cancer related genes for cfDNA with UMIs at approximately 1500xUMI coverage.

Dataset EGAD50000000781

SAFIR02_Cytoscan

Genomics to select patients with metastatic breast cancer for targeted therapy (microarray_cytoscan)

Dataset EGAD00010002239

EGAD00010000644

Affymetrix SNP6.0 cancer cell line exome sequencing data

Dataset EGAD00010000644

EGAD00010000268

Metabric breast cancer samples (Expression raw data)

Dataset EGAD00010000268

TCR β-chain repertoire sequences of regulatory and conventional T cells in peripheral blood from breast cancer patients and healthy individuals

Dataset EGAD00001004385

Whole genome sequencing of 63 single cells isolated from bone marrow aspirates of six non-metastatic breast cancer patients after staining for disseminated tumor cells.

Dataset EGAD00001002745

DAC for "Multimodal plasma and urinary cell-free DNA profiling improves risk stratification in newly diagnosed prostate cancer" with Dr. Anja Lisa Riediger(a.riediger@dkfz-heidelberg.de) and PD Dr. Magdalena Görtz(magdalena.goertz@dkfz-heidelberg.de)

Dac EGAC00001003576

Epigenetic Intratumor Heterogeneity and Clonal Evolution in Aggressive Prostate Cancer

Our study investigated the spatial epigenome variation within 5 aggressive prostate adenocarcinomas.

Study EGAS00001000682

Orphan_Tumour_Study___RNAseq

The aim of this study is to study the genomes of ultra rare childhood tumours

Study EGAS00001002534

CRISPR_screen_M14__NCI_H3122

Genome wide CRISPR screen was performed to find resistance to targeted drugs for melanoma and lung

Study EGAS00001001060

Cell_lines_with_telomere_fusion_induced_rearrangements

Whole-genome somatic rearrangement and point mutation analysis in cell lines with induced telomere fusions.

Study EGAS00001001059

Targeted_sequencing_of_embryonic_variants___Warm_Autopsy

Targeted sequencing of variants previously identified as embryonic from phylogenetic tree building of LCM WGS of PD28690.

Study EGAS00001003952

EPO2_Illumina_RNA_XEN

RNAseq on Illumina HiSeq2000/2500 of Patient-derived xenograft derived from colorectal cancer primary tumor sample (EPO2_cohort)

Dataset EGAD00001003362

OT2_Illumina_RNA_T_CELL

RNAseq on Illumina HiSeq2000/2500 of PDO culture derived from colorectal cancer primary tumor sample (OT2_cohort)

Dataset EGAD00001003368

OT2_Illumina_WGS_MET_CELL

Whole-genome sequencing on Illumina HiSeq2000/2500 of PDO culture derived from colorectal cancer metastasis sample (OT2_cohort)

Dataset EGAD00001003373

OT2_Illumina_WGS_T_XEN

Whole-genome sequencing on Illumina HiSeq2000/2500 of Patient-derived xenograft derived from colorectal cancer primary tumor sample (OT2_cohort)

Dataset EGAD00001003376

OT2_Illumina_WXS_MET_CELL

Whole-exome sequencing on Illumina HiSeq2000/2500 of PDO culture derived from colorectal cancer metastasis sample (OT2_cohort)

Dataset EGAD00001003380

OT2_Illumina_WXS_T_XEN

Whole-exome sequencing on Illumina HiSeq2000/2500 of Patient-derived xenograft derived from colorectal cancer primary tumor sample (OT2_cohort)

Dataset EGAD00001003384

Genomic characterization of pancreatic tumours and matched xenograft and organoid models - WGS mapped reads

Whole Genomes Define Concordance in Matched Primary, Xenograft, and Organoid Models of Pancreas Cancer - WGS mapped reads

Dataset EGAD00001003586

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

BC WGS Dataset 1

Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells

Dataset EGAD00001001350

Illumina_RNA_MET

RNAseq on Illumina HiSeq2000/2500 of colorectal cancer metastasis sample

Dataset EGAD00001002072

Illumina_RNA_MET-CELL

RNAseq on Illumina HiSeq2000/2500 of PDO culture derived from colorectal cancer metastasis sample

Dataset EGAD00001002073

Illumina_RNA_T-CELL

RNAseq on Illumina HiSeq2000/2500 of PDO culture derived from colorectal cancer primary tumor sample

Dataset EGAD00001002078

Illumina_WGS_MET

Whole-genome sequencing on Illumina HiSeq2000/2500 of colorectal cancer metastasis sample

Dataset EGAD00001002084

Illumina_WGS_T-CELL

Whole-genome sequencing on Illumina HiSeq2000/2500 of PDO culture derived from colorectal cancer primary tumor sample

Dataset EGAD00001002089

Hyperpolarized 13C MRI in breast cancer

Transcriptomics for samples obtained from six patients (MBR01, MBR03, MBR05, MBR07, MBR10, MBR11)

Dataset EGAD00001005760

Colorectal Microenvironment Spatial Mapping Dataset

Two samples derived from a colorectal cancer female patient - tumor tissue and normal adjacent tissue analyzed via Visium Spatial Gene Expression.

Dataset EGAD00001015675

GWA Study of Oral Cavity, Pharynx and Larynx Cancers in European, and North and South American Populations - CIDR

There is striking geographical variation in head and neck cancer (HNC) incidence globally. Some of the highest incidence rates have been observed in Southern and Eastern Europe and South America. The goal of this project is to assess susceptibility loci across and within ancestral backgrounds, using the All of Us array. Ten studies have come together in this initiative.

Study phs002503

Spatial transcriptome analysis for elucidating progression of early lung adenocarcinoma

In this study, we performed spatial transcriptome analysis of adenocarcinoma in situ (AIS) and minimally invasive adenocarcinoma (MIA) to identify molecular events which occur during progression of ealry lung adenocarcinoma. For the analysis, we used cancer tissues which were precisely classified by Noguchi classification. Using the obtained data, we elucidated key molecular changes during tumor cell progression and their associated microenvironment statuses.

Study JGAS000677

Identification of New Therapeutic Targets for Renal Medullary Carcinoma via Integrated Genomic and Transcriptomic Profiling

Renal medullary carcinoma (RMC) is a rare, aggressive kidney cancer associated with sickle cell trait, characterized by SMARCB1 loss and resistance to conventional therapies used for other renal cell carcinomas (RCC). We conducted whole exome sequencing (WES) on RMC samples. This study provides a large molecular characterization of RMC, highlighting TROP2 and other cell surface markers as promising therapeutic targets.

Study EGAS50000001280

SCANDARE TNBC shallow WGS data

SCANDARE (NCT03017573) is a multicentric biobanking study, enrolling adult patients with newly diagnosed head and neck squamous cell carcinoma (HNSCC), triple negative breast cancer (TNBC), ovarian and cervical cancer. Tumor tissue and blood samples are collected at several time points during patient's journey, including at diagnosis, post-neoadjuvant chemotherapy in case of neoadjuvant treatment, at surgery, at recurrence and at disease progression following treatment initiated at recurrence. Since its launch in 2017 at Institut Curie, SCANDARE has enabled the longitudinal collection and preservation of samples for in-depth analyses. Here, we describe molecular alterations in 251 frozen samples at baseline from 143 TNBC patients using shallow WGS technology, with FASTQ files deposited in the dataset.

Dataset EGAD50000001849

GeoMx DSP of NGS mRNA expression in pre-treatment biopsies from patients with metastatic triple-negative breast cancer treated with PARP inhibitors.

This dataset contains GeoMx digital spatial profiling (DSP) data from 12 FFPE pre-treatment biopsies of metastatic HR-altered breast cancer patients subsequently treated with PARP inhibitors (Olaparib or Talazoparib). Samples were collected from primary breast tumors (n=7) and metastatic sites including lymph nodes (n=2), bone (n=2), and brain (n=1). Tissue sections were stained for pan-cytokeratin (PANCK) to selectively profile tumor cells, with NGS-based transcriptome data generated for both PANCK+ and PANCK- regions. The dataset includes raw data files (176 fastq files) along with clinical annotations.

Dataset EGAD50000001932

Targeted DNA sequencing and mRNA sequencing data from patients with peritoneal metastasis from colorectal cancer

Patients with peritoneal metastasis from colorectal cancer (PM-CRC) have inferior prognosis and respond particularly poorly to chemotherapy. This study aims to identify the molecular explanation for the observed clinical behavior and suggest novel treatment strategies in PM-CRC. Tumor samples (230) from a Norwegian national cohort undergoing surgery and hyperthermic intraperitoneal chemotherapy (HIPEC) with mitomycin C (MMC) for PM-CRC were subjected to targeted DNA sequencing, and associations with clinical data were analyzed. mRNA sequencing was conducted on a subset of 30 samples to compare gene expression in tumors harboring BRAF or KRAS mutations and wild-type tumors.

Dataset EGAD50000000593

Renal Cancer Exome Sequencing

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.

Dataset EGAD00001000014

Diverse modes of genomic alterations in hepatocellular carcinoma

Hepatocellular carcinoma is the most prevalent type of liver cancer. We intended to study the genomic landscape of this disease. We conducted whole-genome, exome and transcriptome sequencing for 42 patients. We show diverse modes in which the HCC genome is affected in these patients, including well-known and novel mutations, structural variations, and Hepatitis B-virus integration into the genome.

Study EGAS00001000824

Myelodysplastic_Syndrome_Exome_Sequnecing

Cancer is driven by mutation. Illumina GA massively parallel sequencing technology will be applied to Agilent exome hybridisation capture libraries and total genomic paired-end libraries. Bespoke algorithms are being developed to identify the somatically acquired structural variants, 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 Myelodysplastic Syndrome development.

Study EGAS00001000089

Whole-exome sequencing of Fanconi anemia-like inherited bone marrow failure syndrome

We identified three fibroblast cultures derived from aplastic anemia patients in the Japanese Cancer Research Resources Bank (JCRB) Cell Bank that showed high levels of sister chromatid exchanges (SCEs) in PHA-stimulated lymphoblasts. To elucidate the genetic basis of the high SCE, we carried out whole exome sequencing of these samples. Subsequently, germline variants were analysed for these patients.

Study EGAS00001003809

Clinical efficacy and biomarker analysis of neoadjuvant atezolizumab in operable urothelial carcinoma in the ABACUS trial

ABACUS is a single arm phase 2 study that investigated 2 cycles of atezolizumab (1200mg Q3) prior to cystectomy in 95 patients with muscle invasive transitional cell cancer (T2-4N0M0). Pathological complete response (pCR) occurring in ≥20% of patients was the primary endpoint. Biomarker analysis on sequential tissue was a co-primary endpoint.

Study EGAS00001004445

The molecular landscape of colorectal cancer reveals genetic mutations - COCA-CN

We collected tumor samples and adjacent nomal mucosae from 46 patients with colorectal cancer in surgical operation from 2014 to 2016 in the First Affiliated Hospital of Chongqing Medical University (Chongqing, China) and the Research Institute of Surgery, Third Military Medical University (Chongqing, China). the qualified captured library of each sample was then loaded on Illumina HiSeq 2000 (Illumina, San Diego, CA) platforms and subjected to high-throughput sequencing.

Dataset EGAD00001003304

ICR96 exon CNV validation series

A resource for assessment of exon CNV calling methods in targeted NGS data, we here present the ICR96 exon CNV validation series. The dataset includes high-quality sequencing data from a targeted NGS assay (the TruSight Cancer Panel) together with Multiplex Ligation-dependent Probe Amplification (MLPA) results for 96 independent samples. 66 samples contain at least one validated exon CNV and 30 samples have validated negative results for exon CNVs in 26 genes. The dataset includes 46 exon CNVs in BRCA1, BRCA2, TP53, MLH1, MSH2, MSH6, PMS2, EPCAM and PTEN, giving excellent representation of the cancer predisposition genes most frequently tested in clinical practice. Moreover, the validated exon CNVs include 25 single exon CNVs the most difficult exon CNV to detect.

Dataset EGAD00001003335

European Prospective Investigation into Cancer and Nutrition BAMs

516 DNA samples were collected from individuals upon enrollment into the European Prospective Investigation into Cancer and Nutrition study between 1993 and 1998 across 17 different centers. 126bp pair-end reads sequencing data from the Illumina platform were converted to fastq format, the 2bp molecular barcode information at each read of the pair was trimmed and was written in the reads name. The Thymine nucleotide required for ligation was removed from the sequences. Burroughs-Wheeler Aligner (BWA-mem) was used for alignment of the processed fastq files to the reference hg19 genome, following indel-re-alignment using GATK. An in-house algorithm was written to collapse read families that share the same molecular barcode sequence

Dataset EGAD00001003583

March 2018 cumulative data release for reference epigenomes generated at Centre for Epigenome Mapping Technologies, Genome Sciences Center, B.C. Cancer Agency as part of the International Human Epigenome Consortium.

March 2018 cumulative data release (bams,fastqs) for reference epigenomes generated at Centre for Epigenome Mapping Technologies, Genome Sciences Center, B.C. Cancer Agency as part of the International Human Epigenome Consortium

Dataset EGAD00001003963

Normal prostatectomy project analysis and leftovers

Data collected as part of the Normal prostatectomy project analysis. Whole genome sequencing (WGS, targeted at 30X for normal tissue and 50X for tumour tissue) was performed on morphologically normal tissue samples from 30 patients with prostate cancer. In addition, seven prostate tissue samples were sequenced from 7 non-cancer patients: two collected after a cystoprostatectomy and five from samples collected at autopsy. Matched blood controls were included for all patients. An extra five samples were sequenced from the stroma of cell cultured fibroblasts. In addition a few tumour samples obtained at prostatectomy and their blood matched controls are included in this dataset from the main study that are not included elsewhere.

Dataset EGAD00001004125

Whole-exome sequencing performed on a patient with chronic myelomonocytic leukemia and B cell acute lymphoblastic leukemia

We studied the rare case of a patient who underwent transformation of myelodysplastic syndrome to chronic myelomonocytic leukemia and B cell acute lymphoblastic leukemia. We used fluorescence-activated cell sorting and whole-exome sequencing to identify driver mutations in the various clones. This allowed us to propose a model of branching clonal evolution with a possible germline predisposition to cancer.

Study EGAS00001005117

Developing somatic copy number and mutation calling tools for a bespoke sequencing platform

We previously developed a linked-read sequencing platform (DigiPico) for analysing whole cancer genomes from picogram quantities of tumour DNA. The aim of this study was to develop and evaluate the specialised computational approaches required to obtain clinically useful results from the raw data. To this end, we performed matched DigiPico, bulk tumour and germline WGS on samples from four patients.

Study EGAS00001007195

WGS and WES of 78 pairs Chinese gastric cancer

Gastric Cancer (GC) is a highly heterogeneous disease. To identify potential clinically actionable therapeutic targets that may inform individualized treatment strategies, we performed whole-exome sequencing on 78 GCs of differing histologies and anatomic locations, as well as whole-genome sequencing on two GC cases, each with 3 primary tumours and 2 matching lymph node metastases. The data showed two distinct GC subtypes with either high-clonality (HiC) or low-clonality (LoC).

Dataset EGAD00001001118

March 2019 data update for reference epigenomes generated at Centre for Epigenome Mapping Technologies, Genome Sciences Center, B.C. Cancer Agency as part of the International Human Epigenome Consortium.

March 2019 data update for cord blood CD34+CD38-, CMP, GMP, MEP, monocyte, erythroid precursor, B cell and primary AML total blasts reference epigenomes generated at Centre for Epigenome Mapping Technologies, Genome Sciences Center, B.C. Cancer Agency as part of the International Human Epigenome Consortium. This dataset contains data for samples: CEMT0158 CEMT0159 CEMT0160 CEMT0161 CEMT0162 CEMT0163 CEMT0164 CEMT0165 CEMT0166 CEMT0167 CEMT0168 CEMT0169 CEMT0170 CEMT0171 CEMT0172 CEMT0189

Dataset EGAD00001004950

Reconstruction of complex rearrangement patterns causing the initiation of clear cell renal cell carcinoma.

The genomic hallmark of clear cell renal cell carcinoma is the loss of the short arm of chromosome three. This appears to be the earliest genomic event in the formation of these cancers. Often chromosome 3 is lost at the same time as part of chromosome 5 is duplicated via an unbalanced translocation, often with features consistent with focal chromothripsis. In this study, we sought to reconstruct the chromothriptic event that underlies the initiation of kidney cancer. We used long read sequencing (promethION, Oxford Nanopore Technologies) of patient tumour-derived DNA to elucidate how a single cell division error can generate cancer genome complexity.

Dataset EGAD00001005495

sWGS on cfDNA and matching tumor DNA in pediatric cancer

This dataset contains shallow whole genome sequencing data from paired cfDNA - tumor DNA samples of various pediatric cancer entities (total 215 samples). Files are provided in fastq format. Samples were sequenced on an Ion Proton sequencer (Thermo Fisher Scientific) or a Hiseq3000 (Illumina). Data analysis is available at https://github.com/rmvpaeme/sWGS_pediatric_cancer.

Dataset EGAD00001007508

November 2020 data update (fastq) for reference epigenomes generated at Centre for Epigenome Mapping Technologies, Genome Sciences Center, B.C. Cancer Agency as part of the International Human Epigenome Consortium.

November 2020 data update (fastq) for reference epigenomes generated at Centre for Epigenome Mapping Technologies (Canadian Epigenetics, Environment and Health Research Consortium), Genome Sciences Center, B.C. Cancer Agency, Vancouver, Canada as part of the International Human Epigenome Consortium.

Dataset EGAD00001007529

EPICC: Evolutionary Predictions in Colorectal Cancer

661 bam files generated from high-throughput RNAseq of tumour biopsies from colorectal cancer patients

Dataset EGAD00001007828

Plasma whole genome sequencing from patients with stage IV colorectal cancer and microsatellite instability

This dataset contains plasma WGS data from patients with stage IV colorectal cancer (CRC, n = 16) and healthy individuals (n = 21) used in the Pointy manuscript. Patients with CRC provided written consent and samples were collected as performed as described previously (Clinical-Trials.gov number NCT01876511; Georgiadis et al., 2019, Le et al., 2017). Plasma samples from 21 healthy control individuals were procured through BioIVT. Cell-free DNA (cfDNA) was extracted from plasma using the QIAamp Circulating Nucleic Acid Kit. Libraries were prepared with 5 to 250 ng of cfDNA using the NEBNext DNA Library Prep Kit. Libraries were sequenced on HiSeq2000/2500.

Dataset EGAD00001008999

Detection of cancer cell transcriptomes

Single cell transcriptomes, generated using chromium 10X 3' sequencing, for two tumour types (AT/RT, and Ewing's sarcoma). For each individual, tumour and normal whole genome sequencing was also obtained using Illumina short read sequencing to an average depth of 30X. These data were used to validate the accuracy of a method for identifying cancer cell transcriptomes based on the allelic shift produced by copy number changes.

Dataset EGAD00001009005

WES and RNAseq of Simultaneous Bilateral Breast Cancer

This dataset includes NGS profiling of 13 women with simultaneous bilateral breast cancer. Seven women have WES of untreated surgical resections and matched healthy tissue. The six other women have WES of healthy tissue, WES+RNAseq of pre-neoadjuvant tumor biopsies, and when residual disease was present (6 tumors in 4 patients), WES+RNAseq of residual disease from post-neoadjuvant therapy surgery. One patient from the WES+RNAseq cohort had multifocal bilateral disease at diagnosis so there are 2 pre-neoadjuvant biopsy samples from each breast.

Dataset EGAD00001009987

Single Cell Genome Variation Induced by Mutational Processes in Cancer - HGSOC Trios Study

Mutational signatures derived from whole genome sequencing have potential prognostic significance. Identification of high grade serous ovarian cancer patients with deficiency in homologous recombination repair pathways could identify a subset of patients that would benefit from homologous recombination deficiency-specific treatments independent of identification of a pathological BRCA1/2 gene mutation. Clinical protocols rely on a pathologist's assessment of formalin-fixed paraffin-embedded (FFPE) tissues, and thus FFPE tissue samples are readily available. However, the bulk of mutational signature analyses have been performed on fresh frozen tissues. In this study, we aimed to assess the reliability of whole genome sequencing, variant calling, and mutational signature analysis from FFPE tissue samples.

Study phs003036

Sequence Analysis of Mutations and Translocations Across Breast Cancer Subtypes

This study combined whole exome (103 samples) and whole genome (22 samples) sequencing over a total of 108 breast tumors and matched normal DNA to identify novel mutations and translocations. Samples were subjected to paired-end Illumina sequencing with goal of 30x coverage of tumor/normal for whole genomes and 100x tumor/normal coverage for whole exomes. From these sequences, we used various computational techniques to identify somatic point mutations, insertion/deletions and structural rearrangements in these tumors. From these data, we identified new insights into the rates of background mutations in these cancers, novel recurrent mutated genes, and multiple gene rearrangements. One of these rearrangements appears to be a recurrent event in breast cancer.

Study phs000369

Improved Detection and Identification of Microsatellite Instability Features in Colorectal Cancer

In this study, we analyzed a series of colorectal cancers using a new sequencing technology that sequences more than 200 microsatellite regions in parallel. With this technology, we evaluated mono-, di- , tri- and tetranucleotide repeats to provide a broad spectrum of microsatellite instability (MSI) events. This deep sequencing technology provides greater than 2000X coverage and eliminates the need for PCR amplification. Because every read corresponds to a single DNA molecule, we eliminated artifacts introduced by PCR that obscured true MSI events. Also included in our analysis is a new method for detection of somatic copy number changes in 83 cancer genes, with which we can infer chromosomal instability (CIN) status.

Study phs001914

Biomarker Research for Anti EGFR Monoclonal Antibodies by Comprehensive Cancer Genomics

The purpose of this study is to explore new biomarkers for predicting the effectiveness of an anti-epidermal growth factor receptor (anti-EGFR) antibody in patients with advanced colorectal cancer. The investigation involves analyzing the entire exome, conducting a genome-wide association study (GWAS), and analyzing copy number variations (CNVs) using single nucleotide polymorphism (SNP) arrays. Genetic material from both cancerous and non-cancerous tissues, as well as blood samples from patients who received the antibody treatment, will be used. The goal is to identify genetic mutations and SNPs associated with treatment efficacy and adverse events, and to assess the correlation between their presence and treatment effectiveness using statistical methods.

Study JGAS000779

Insights into BRCA1 and TP53 associated breast cancer development from integrated whole genome analysis of mouse model mammary tumors

Germline mutations in BRCA1 are a leading cause of hereditary breast cancer. We generated Brca1;Trp53 double conditional knockout (CKO) and Trp53 single CKO mouse models, both with either one or two copies of Trp53 deleted by Cre. We used whole-genome sequencing and optical genome mapping to interrogate the genomes of the resulting mammary tumors. Our comprehensive genomic analyses show that the Brca1;Trp53-CKO tumors recapitulate major genomic features of the human BRCA1 breast samples indicative of conserved fundamental mutational processes. This study also provides new insights into the genetic mechanisms of tumor development with potential implications for the treatment of BRCA1 cancers.

Study EGAS50000001402

A Combined Omics and Tissue Biobank for Paediatric Cancers

The Swedish Childhood Tumour Biobank (BTB) is a nonprofit national infrastructure for samples and genomic data collection from pediatric patients diagnosed with central nervous system and other solid tumours in Sweden. Fresh frozen tumour tissue and patient’s matched blood are collected from affected patients and genomic data is continuously generated and made available for approved medical research projects. We expect that the accessibility of biological samples and/or data to the research community will contribute to further advances in the understanding of tumour biology, which in turn will impact many aspects of clinical care of children with cancer, by refining diagnosis and/or identifying oncogenic drivers and therapeutic targets.

Study EGAS50000000209

12302 results for "cancer rna-seq"

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