15147 results for "cancer studies using rna-seq"

in 37.25 milliseconds.

• Unraveling the heterogeneity of multiple myeloma identifies therapy resistant subpopulation with vulnerability to the splicing pathway intervention

  Intra-tumor heterogeneity underlies the therapy resistance of multiple myeloma (MM). However, its details remain unknown. Here, we performed single-cell RNA sequencing coupled with VDJ targeted sequencing on highly purified bone marrow lineage marker-negative CD38+ MM cells from patients at diagnosis and in remission. This approach successfully subdivided MM cells into distinct clusters, unraveling their heterogeneity and plasticity on the axis of cell surface CD138 expression. Notably, unique clusters were identified in the minor CD138-negative population that resisted therapies. CRISPR/Cas9 screening of upregulated genes in the resistant population identified their vulnerability to the splicing pathway inhibition, among which RNA-binding protein 39 (RBM39) appeared to be overexpressed in the resistant population and involved in aberrant splicing. Genetic and pharmacological inhibition of RBM39 exerted a profound synthetic lethal effect on them. Our results unveil an uncharacterized subpopulation associated with therapy resistance and provide a novel therapeutic strategy targeting the splicing pathway in MM.

  Study JGAS000723

• Recurrent somatic mutations in POLR2A define a distinct subset of meningiomas

  RNA polymerase II mediates the transcription of all protein-coding genes in eukaryotic cells, a process that is fundamental to life. Genomic mutations in this enzyme have not been previously linked to any pathology in humans, a testament to its indispensable role in cell biology. Based on a combination of next-generation genomic analyses of 775 meningiomas, we report that recurrent somatic p.Gln403Lys or p.Leu438_His439del mutations in POLR2A, which encodes the catalytic subunit of RNA polymerase II1, are sufficient to hijack this essential enzyme and drive neoplasia. POLR2A mutant tumors reveal dysregulation of key meningeal identity genes, including WNT6 and ZIC1/ZIC42,3. In addition to POLR2A, NF2, SMARCB1, TRAF7, KLF4, AKT1, PIK3CA and SMO4-8, we also report somatic mutations in AKT3, PIK3R1, PRKAR1A, and SUFU in meningiomas. Our results identify a role for essential transcriptional machinery in driving tumorigenesis and define mutually exclusive meningioma subgroups with distinct clinical and pathological features.

  Study EGAS00001001916

• Study on longer adjuvant chemotherapy in Women with Early Breast Cancer

  The Cancer and Leukemia Group B (CALGB) 40101 trial compared four and six cycles of AC or single-agent paclitaxel in early breast cancer. The study was a 2X2 factorial design trial that also examined the effects of AC vs singleagent paclitaxel.

  Study phs000807

• Exome Sequencing for Head and Neck Cancer Susceptibility

  This study seeks to find low frequency or rare genetic variants in genes carried by subjects from families with unexplained familial risk of head and neck cancer. Whole exome sequencing was used to identify genetic variation in head and neck cancer cases.

  Study phs002571

• Integrative Tissue Analysis of Men with Prostate Cancer

  Prostate cancer is readily curable if detected early. The goal of this research is to assess the molecular alterations that contribute to prostate cancer development, and how the interaction of tumor-cell autonomous alterations and immune cell proportions contribute to the predictability of recurrence.

  Study phs001813

• Target sequencing of 8 hereditary prostate cancer genes in Japanese

  We performed a case control association study for variants in coding regions of 8 hereditary prostate cancer genes in 7,636 male unselected prostate cancer patients, 12,366 male controls of Japanese ancestry. The 8 genes were ATM, BRCA1, BRCA2, BRIP1, CHEK2, HOXB13, NBN, and PALB2.

  Study JGAS000203

• Whole exome sequencing of Finnish hereditary breast cancer families

  A remarkable proportion of factors causing genetic predisposition to breast cancer (BC) are unknown in non-BRCA1/2 families. Exome sequencing was performed for 13 high-risk Finnish hereditary breast and/or ovarian cancer (HBOC) families to detect variants contributing to BC susceptibility

  Study EGAS00001001835

• T cell receptors of pathogenic CD4 T cells isolated by using distinct phenotypic markers in celiac disease

  Dac EGAC00001002292

• EGAD00010000750

  German glioma control germline genotypes using Illumina HumanExome-12v1_A array

  Dataset EGAD00010000750

• EGAD00010000752

  German glioma case germline genotypes using Illumina HumanExome-12v1_A array

  Dataset EGAD00010000752

• EGAD00010000754

  UK glioma case germline genotypes using Illumina HumanExome-12v1_A array

  Dataset EGAD00010000754

• EGAD00010000756

  French glioma control germline genotypes using Illumina HumanExome-12v1_A array

  Dataset EGAD00010000756

• EGAD00010000758

  French glioma case germline genotypes using Illumina HumanExome-12v1_A array

  Dataset EGAD00010000758

• EGAD00010000488

  Chondroblastoma case sample genotype using Affymetrix SNP6.0

  Dataset EGAD00010000488

• iOmics_genomic_data

  iOmics genomic data using 2.5M and Exome array

  Dataset EGAD00010001309

• A3164_ClariomD

  ALL SAMPLES USING ClariomD microarray (Affymetrix)

  Dataset EGAD00010001705

• BIOCLOCK Study Methylation Data

  Whole blood methylation data measured using Illumina MethylationEPIC v2.0 array

  Dataset EGAD00010002801

• Sequencing data for oesophageal and related samples - OACs release 5 (RNA)

  Dataset EGAD00001005383

• Sequencing data for oesophageal and related samples - Normals release 6 (RNA)

  Dataset EGAD00001005376

• Sequencing data for oesophageal and related samples - BOs release 6 (RNA)

  Dataset EGAD00001005377