278 results for "study_type:"exome sequencing" AND repository:ega"

in 20.22 milliseconds.

• Arcagen - Sarcoma domain

  Arcagen is an EORTC/SPECTA pan-European project that aims to recruit 1000 rare cancer patients from different tumour domains of EURACAN. This study collected samples from advanced or metastatic rare cancer from patients older than 12, and analysed them using Foundation Medicine next-generation sequencing (NGS) panels (FoundationOne CDx for FFPE samples or FoundationOne Liquid CDx for blood samples). Here we are submitting the dataset that contain NGS files from patients with undifferentiated sarcoma of the bone; aggressive angiomyxoma; alveolar soft part sarcoma; small round cell sarcoma without EWSR1 and CIC translocations; undifferentiated pleomorphic sarcoma; undifferentiated sarcoma; myxofibrosarcoma; or sarcoma with an incidence of less than 1 per 10 million (n=62).

  Study EGAS50000000639

• Arcagen - Relapsing germ cell tumors domain

  Arcagen is an EORTC/SPECTA pan-European project that aims to recruit 1000 rare cancer patients from different tumour domains of EURACAN. This study collected samples from advanced or metastatic rare cancer from patients older than 12, and analysed them using Foundation Medicine next-generation sequencing (NGS) panels (FoundationOne CDx for FFPE samples or FoundationOne Liquid CDx for blood samples). Here we are submitting the dataset that contain NGS files from patients with Relapsing germ cell tumors, of any origin and of any histological type (n=23).

  Study EGAS50000000645

• Arcagen - Extra-pulmonary neuroendocrine tumour or cancer grade 3 (NET / NEC G3) domain

  Arcagen is an EORTC/SPECTA pan-European project that aims to recruit 1000 rare cancer patients from different tumour domains of EURACAN. This study collected samples from advanced or metastatic rare cancer from patients older than 12, and analysed them using Foundation Medicine next-generation sequencing (NGS) panels (FoundationOne CDx for FFPE samples or FoundationOne Liquid CDx for blood samples). Here were are submitting the dataset that contains NGS files from patients with extra-pulmonary neuroendocrine tumour or cancer grade 3 (NET / NEC G3) (n=85).

  Study EGAS50000000644

• Arcagen - CNS domain

  Arcagen is an EORTC/SPECTA pan-European project that aims to recruit 1000 rare cancer patients from different tumour domains of EURACAN. This study collected samples from advanced or metastatic rare cancer from patients older than 12, and analysed them using Foundation Medicine next-generation sequencing (NGS) panels (FoundationOne CDx for FFPE samples or FoundationOne Liquid CDx for blood samples). Here we are submitting the dataset from patients with rare tumor from the central nervous system (n=61).

  Study EGAS50000001002

• Whole exome sequencing of pre-invasive lung adenocarcinoma in non-smokers

  The prevalence of lung adenocarcinoma (LUAD) has increased sharply in East Asia. Early diagnosis leads to better survival rates, but this requires an improved understanding of the molecular changes during early tumorigenesis, particularly in non-smokers. We performed whole exome-sequencing and RNA-sequencing for samples from 94 East Asian patients with precancerous lesions (25 with atypical adenomatous hyperplasia [AAH]; 69 with adenocarcinoma in situ [AIS]) and 73 patients with early invasive lesions (minimally invasive adenocarcinoma [MIA]). Cellular analysis revealed that the activities of endothelial and stromal cells could categorize tumors into molecular subtypes within pathology-defined lesion types. These subtypes were linked with the advanced radiology-defined lesion type and coordinated with immune cell infiltration throughout the progression of LUAD. Characterization of these lesion types identified positively selected mutation patterns, and suggested that angiogenesis of the late-stage AIS type potentially contributes to tissue invasion of the MIA type. Our findings offer a novel resource that may help to improve early diagnosis and patient prognosis, and also suggest possible approaches for early disease interception.

  Study EGAS50000000438

• Combination of a CCL21-gene modified dendritic cell vaccine and pembrolizumab induces immune responses in non-small cell lung cancer.

  In a phase I study of advanced NSCLC, intratumoral CCL21-DC vaccination combined with pembrolizumab was safe and resulted in stable disease in 36.8% of patients. Analysis of paired pre- and post-treatment tumor biopsy WES data, together with immune profiling of tumor biopsies and peripheral blood, revealed that disease stability was associated with increased T cell receptor diversity, enhanced CD4+ T cell infiltration, and expansion of novel CD4+ memory T cell clones. These findings suggest that CCL21-DC vaccination can stimulate antitumor immunity; however, its efficacy may be limited by insufficient tumor-specific T cell responses and persistent immunosuppressive signaling within the tumor microenvironment.

  Study EGAS50000002127

• TMEM259 alleles modulate respiratory syncytial virus infection and ER-stress-triggered apoptosis

  Whole Exome Sequencing data for the IRIS1, IRIS2, and IRIS3 cohorts. Abstract: Respiratory syncytial virus (RSV) is a main cause of infant morbidity and mortality. Susceptibility factors for severe RSV bronchiolitis in previously healthy children are unclear. We analyze genetic variants in 5,141 genes involved in virus sensing, interferon (IFN) signaling and effector functions in a population of n=101 previously healthy infants with severe RSV bronchiolitis. Comparing the allele frequencies of the patient cohort with the Exome Aggregation Consortium (ExAC) dataset our analysis reveals 94 non-synonymous coding single nucleotide polymorphisms (SNPs) mapping to 79 potential risk genes. Follow up of genes expressed in human lung cells show that TMEM259 (also known as membralin), a protein involved in regulating endoplasmic reticulum (ER) stress and neuronal cell survival, restricts RSV infection. Analysis of engineered human airway cells endogenously expressing the TMEM259 major allele or the rs77868901 minor variant shows allele-dependent modulation of RSV infection and ER-stress induced apoptosis, but not IFN activity nor induction of IFN stimulated genes. TMEM259 abundance and polymorphisms modulate RSV infection likely by modulating the ER stress response and apoptosis. This data may aid future risk stratification and development of prevention and treatment strategies for RSV.

  Study EGAS50000001971

• NoSarC -- Norwegian Sarcoma Consortium. Towards individualized therapy for orphan cancer.

  This study is initiated and conducted by the Norwegian Sarcoma Consortium - a collaboration between 5 Norwegian hospitals and universities, coordinated by Oslo University Hospital. The NoSarC project was initiated in 2014 and aimed to perform molecular characterization of samples from a national, population-based cohort of sarcoma patients, to identify tumors which are sensitive to therapies already developed and approved for more common cancers. The NoSarC cohort in this study consists of Tumor-Normal pairs from 287 subjects that has been Whole Exome Sequenced.

  Study EGAS50000002163

• Orthotopic Patient-Derived Organoid Model Reveals Tumor Microenvironment-Dependent Phenotypes in Lung Squamous Cell Carcinoma-WES

  WES data

  Study EGAS50000002027

• WES of breast cancer patients and controls

  This study assessed the variant profiles of 408 samples from 126 breast cancer patients with various survival outcomes, including paired uninvolved mammary gland samples collected at proximal distances from primary lesions. As a reference, control samples from 15 mammoplasty individuals without cancer history were studied. Whole exome sequencing was performed to identify post-zygotic and germline variants present in the studied samples. Variant annotation in known databases, interpretation, and statistical analyses followed to discern the clinical relevance of called variants.

  Study EGAS50000000539