12405 results for ""non-traditional+communal+storytelling+approach"+novel+segment+noted+in+critical+commentary"

in 9.14 milliseconds.

• Profiling the genomic landscape and evolutionary history of polyploid giant cancer cells in undifferentiated pleomorphic sarcomas

  Polyploid giant cancer cells (PGCCs), characterised by multi-nucleation and atypical nuclear morphology, are a common feature of undifferentiated pleomorphic sarcomas. While PGCCs may be a critical substrate for cancer evolution, their formation pathways and the genomic consequences of PGCCs remain relatively under explored. In this study, we characterise PGCCs in undifferentiated pleomorphic sarcomas, as well as their histological mimics, and use topographic single-cell DNA sequencing (scDNA-seq) to investigate their genomic landscape. We selected PGCCs based on their nuclear morphology, including mono-nucleated or multi-nucleated bizarre, misshapen nuclei and analysed them at single-cell resolution. Our findings highlight PGCCs as a highly heterogeneous and evolutionarily dynamic component of undifferentiated pleomorphic sarcomas.

  Study EGAS50000001445

• Genetic Alterations in Benign Breast Biopsies of Subsequent Breast Cancer Patients

  Fibrocystic changes are associated with an increased risk of breast cancer (approximately 1.5-2 times that of the general population). Although the relative risk seems low, because of the high frequency of such changes, the absolute risk is significant. Genetic alterations have been found in fibrocystic changes with or without epithelial changes, suggesting that critical oncogenic events are occurring at an early stage. We investigated a unique collective of 17 breast cancer patients who, prior to the diagnosis of invasive breast cancer, underwent open surgical biopsy showing fibrocystic changes of the breast. Massive parallel sequencing targeting genes frequently mutated in breast cancer was performed on the fibrocystic breast tissue as well as the ensuing cancer tissue.

  Study EGAS00001003563

• Genomic sequencing of Pediatric Rhabdomyosarcoma

  Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma of childhood accounting for approximately 350 newly diagnosed cases yearly in the United States. With the development of multimodal chemotherapy regimens, relapse-free survival rates have improved to 70-80% in patients with localized disease albeit with significant toxicity. Unfortunately, despite aggressive treatment, patients with metastatic or recurrent disease continue to suffer from high mortality. Further characterization of the genetic events underlying this tumor type is critical for the development of more effective diagnostic, prognostic and therapeutic strategies. In a collaborative effort between the National Cancer Institute, the Children's Oncology Group, and the Broad Institute, we use a combination of whole-genome and whole-exome sequencing to characterize the landscape of somatic alterations in 147 tumor/normal pairs.

  Study phs000720

• Kids First: Pediatric Research Project on Adolescent Idiopathic Scoliosis

  Both childhood cancers and structural birth defects are critical and costly conditions associated with substantial morbidity and mortality. Elucidating the underlying genetic etiology of these diseases has the potential to profoundly improve preventative measures, diagnostics, and therapeutic interventions. For the current study, families with inherited adolescent idiopathic scoliosis were included. Both affected and unaffected family members were included.

  Study phs001410

• Genetic Determinants of Susceptibility to Severe COVID-19 Infection

  The goal of the project is to identify genetic susceptibility variants associated with acute COVID-19 infection susceptibility and severity using whole genome sequencing. The target of the project will include WGS data from whole blood samples of up to approximately 2000 COVID-19 patients (including critical/severe patient subgroup, asymptomatic/mild subgroup) from domestic and international medical institutions.

  Study phs002245

• Resilience and Susceptibility Patterns in the Viral Immune Response Using RNA-Seq (ReSP VIRUS Study)

  This is a cross sectional study to investigate the relationship between nasal mucosa gene expression and clinical outcomes in infants with critical Respiratory Syncytial Virus (RSV) infection. We collected nasal mucosa samples from infants admitted to the pediatric intensive care unit with polymerase chain reaction confirmed RSV bronchiolitis. Samples were obtained by mucosal scrape biopsy of the inferior turbinate using a sterile plastic curette and bulk RNA-sequencing of mRNA was performed. Clinical data was extracted from the electronic health record including: demographics, medical history, duration of symptoms, time from admission to sample collection, hospital and intensive care unit length of stay, and type and duration of respiratory support.

  Study phs003053

• Dynamics of Genomic and Immune Responses During Primary Immunotherapy Resistance in Mismatch Repair Deficient Tumors

  We study a patient with dMMR lung cancer refractory to immunotherapy. Post-treatment tumor demonstrated compound heterozygous frameshift deletions located upstream of the kinase domain in the gene encoding JAK1 protein, downregulation of JAK1 and mediators of its signal transduction, and total loss of JAK1 phosphorylation. Importantly, one of the JAK1 mutations, despite not being detected in the pre-treatment tumor, was found at low variant allele frequency in the pre-treatment circulating tumor DNA, suggesting clonal selection of the mutation. This report provides the most detailed look yet of defective JAK1 signaling in the context of dMMR and immunotherapy-resistance. Together with observations of JAK1 frameshift indels being enriched in dMMR compared with MMR-proficient tumors, our findings demonstrate the critical function of JAK1 in immunological surveillance of dMMR cancer.

  Study phs002089

• Identification of colorectal cancer susceptibility genes in Japanese

  We performed whole genome sequencing of 617 colorectal cancer patients registered in BioBank Japan to identify novel susceptibility genes.

  Study JGAS000699

• Identification of gastric cancer susceptibility genes in Japanese

  We performed whole genome sequencing of 256 gastric cancer patients registered in BioBank Japan to identify novel susceptibility genes.

  Study JGAS000698

• Identification of gastric cancer susceptibility genes in Japanese

  We performed whole genome sequencing of 2067 gastric cancer patients registered in BioBank Japan to identify novel susceptibility genes.

  Study JGAS000701