7356 results for "canc*"

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• Frequent Genetic Alterations in Myositis Autoantigen Genes in Cancer-Associated Dermatomyositis

  One-third of patients diagnosed with dermatomyositis harbor an occult cancer, a rare condition named cancer-associated dermatomyositis (CAD). Emerging evidence suggests that genetic alterations in autoantibody-related genes give rise neoantigens and specific autoantibodies that initiate an autoimmune response characteristic of CAD. This study evaluated the prevalence of such genetic alterations and elucidated molecular mechanisms that may underlie their role in triggering autoimmunity. We detected highly frequent genetic alterations in autoantibody-related genes, supporting their role in the CAD pathogenic mechanisms. Distinct TCR repertoire and immune signatures between tumoral and non-tumoral tissues may underlie divergent cancer and dermatomyositis outcomes. Neglected, immunotherapy may offer clinical benefit in selected cases of CAD and warrants further investigation.

  Study EGAS50000001367

• Comprehensive genomic characterization of early stage bladder cancer - Total RNA-seq data

  This study looks at the non muscle invasive bladder cancer subtypes based on totRNAseq data of 414 bladder cancer samples collected in different European centers within the UROMOL project. All samples were sequenced using paired reads on Illumina platforms. The reads are mapped to hg38.

  Study EGAS50000000512

• Kings_Hepatoblastoma_Behjati_WGS_Managed_Access

  A study of the development of liver based tumours.

  Study EGAS00001006875

• Molecular evolution of metastatic clear cell renal cell carcinoma progressing under tyrosine kinase inhibitor therapy (HIPO-045)

  Background:Acquired resistance to targeted drugs is largely due to intra-tumor molecular heterogeneity and clonal selection. Objective:The objective of this study was to determine molecular alterations and mediating resistant mechanisms and to suggest additional treatment options.Design, Setting, and Participants:Four patients were enrolled into the MORE (Molecular Renal Cancer Evolution) trial. We investigated the mutational spectra of metastatic clear cell renal cell carcinoma (ccRCC) at baseline and compared them to those upon clonal evolution at progression on systemic therapy with tyrosine kinase inhibitors.Outcome Measurements:DNA was isolated from tumor tissues after surgery, metastasis biopsies after progression on sunitinib or axitinib, and subjected to whole-exome sequencing (WES). In addition, the exomes of circulating tumor DNA (ctDNA) from two patients were sequenced at baseline and at progression.Results and Limitations:Our data provide evidence for clonal evolution and various acquired resistance mechanisms of ccRCC with subclonal mutations in FLT4, MTOR, ITGA3/5, SETD2, and VHL on metastatic progression. The limited number of shared mutations in tissue and plasma biopsies indicates that both sources provide complementary information, possibly due to mutations present in metastatic lesions which were not amenable to tissue sampling but are represented in the ctDNA. Conclusion:Acquired resistance to targeted therapies in metastatic ccRCC is due to intra-tumor heterogeneity and clonal evolution. Larger patient cohorts have to be studied to estimate the benefit of WES from biopsies and ctDNA for therapy decision in metastatic ccRCC.Patient Summary:We analyzed the molecular profiles of ccRCC patients in primary tissues and metastatic tissues upon progression on tyrosine kinase inhibitor therapy. Clinically relevant mutations upon progression were detected in the metastatic sites of all of four patients, suggesting that it might be possible to derive therapies based on sequencing the metastases.?HIPO-045

  Study EGAS00001001861

• ER___HER2___PR__breast_Cancer_genome_sequencing

  Agilent whole exome hybridisation capture will be performed on genomic DNA derived from X triple negative breast cancers and matched normal DNA from the same patients. Three lanes of Illumina GA sequencing will be performed on the resulting X exome libraries and mapped to build 37 of the human reference genome to facilitate the identification of novel cancer genes.

  Study EGAS00001000197

• FFPE_whole_genome_pilot

  To assess feasibility of whole genome sequencing

  Study EGAS00001001967

• The role of the mammalian SWI/SNF chromatin remodeling complex in neuroendocrine prostate cancer

  We sought to determine the effects of SMARCA4 and SMARCA2 depletion in prostate cancer cell lines. We performed siRNA-mediated knock-down of SMARCA4 and SMARCA2 in an androgen-sensitive (LNCaP) cell line and in a castration-resistant prostate cancer (CRPC)-adenocarcinoma cell line (22Rv1) and compared global transcriptional alterations using RNA-seq.

  Study EGAS00001004177

• Single-cell profiling maps the spectrum of crosstalk between glioma cells and tumor associated macrophages

  Tumor associated macrophages (TAMs) are a heterogeneous glioma infiltrate, implicated in cancer progression. We performed single-cell RNA-sequencing, to survey TAM response-patterns in glioma.

  Study EGAS00001002185

• The aim of this project is to identify, on 15 French Caucasian and 10 African-Caribbean men, through an integrative approach of DNA sequencing and transciptomic analyses, relevant genomic events that characterize or allow targeting the various phenotypes of aggressiveness of early stages of prostate cancer.

  Every year about 70,000 new cases of prostate cancer are diagnosed in France and 8,700 men died from this disease. But the incidence and the rate of mortality per 100,000 men in the French West Indies are respectively 1.5x and 2x upper than the rates observed in the metropolitan France. The aim of this project is to identify, on 15 French Caucasian and 10 African-Caribbean men, through an integrative approach of DNA sequencing and transciptomic analyses, relevant genomic events that characterize or allow targeting the various phenotypes of aggressiveness of early stages of prostate cancer.

  Study EGAS00001002176

• Global Anaplastic Thyroid Cancer Initiative

  Thyroid cancer is the most common endocrine malignancy. Most thyroid cancers are of the well-differentiated (non-aggressive) phenotype, and are almost always cured with standard treatments. In contrast, anaplastic thyroid cancer (ATC) is rare, accounting for only 1% of thyroid cancers, however it is perhaps the most lethal human malignancy with an average survival of 3 to 6 months. ATC presents with dramatic and rapid onset of airway and esophageal blockage with frequent spread to the lungs. Interestingly, 21–79% of ATCs have coexisting areas or a previous history of well-differentiated cancers. Although this suggests a progression from well-differentiated cancers to ATC, to date there is little molecular conformation that such a progression exists versus de novo generation of ATC. As ATC is extremely rare and most cases are inoperable, there are a paucity of tissue samples for study at any one center. The Global Anaplastic Thyroid Cancer Initiative (GATCI) aims to unite international institutions in order to pool samples (ATC with or without a paired well-differentiated component) for a comprehensive analysis of the genomic landscape of this disease.

  Study EGAS00001002234