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Results Found: 13
  • USP8 and TP53 drivers are associated with CNV in a corticotroph adenoma cohort enriched for aggressive tumors

    Authors
    Uzilov, Andrew
    Geer, Eliza
    Description

    Summary from Dryad: "Abstract: Context: Pituitary corticotroph adenomas are rare tumors that can be associated with excess adrenocorticotropic hormone (ACTH) and adrenal cortisol production, resulting in the clinically debilitating endocrine condition Cushing disease. A subset of corticotroph tumors behave aggressively, and genomic drivers behind the development of these tumors are largely unknown....

    Subject
    ACTH-Secreting Pituitary Adenoma
    Adrenocorticotropic Hormone
    Exome Sequencing
    Genomics
    Pituitary ACTH Hypersecretion
    Access Rights
    Free to All
  • Adenoid Cystic Carcinoma of the Breast (MSK, J Pathol. 2015): Whole exome sequencing of 12 breast AdCCs

    Authors
    Martelotto, Luciano G.
    De Filippo, Maria R.
    Ng, Charlotte K. Y.
    Natrajan, Rachael
    17 more author(s)...
    Description

    Whole exome sequencing of adenoid cystic carcinomas of the breast, a rare type of triple-negative breast cancer characterized by the presence of the MYB-NFIB fusion gene. This dataset contains visual data summaries and clinical data from 12 patients. Data includes mutation and treatment information, genomic alterations, and data on recurrence and metastasis.

    Subject
    Carcinoma, Adenoid Cystic
    Exome Sequencing
    Triple Negative Breast Neoplasms
    Access Rights
    Free to All
  • Table S5 from Phase II Clinical Trial of Everolimus in a Pan-Cancer Cohort of Patients with mTOR Pathway Alterations

    Authors
    Adib, Elio
    Klonowska, Katarzyna
    Giannikou, Krinio
    Do, Khanh T.
    15 more author(s)...
    Description

    Description from Figshare: "Table S5. Nonsynonymous single nucleotide variants (SNVs) and insertions/deletions (indels) identified by whole exome sequencing (WES) and/or initial panel sequencing. Each sheet is a different tumor sample."

    Subject
    Clinical Trial, Phase II
    Everolimus
    Exome Sequencing
    Neoplasms/drug therapy
    Nucleotides
    TOR Serine-Threonine Kinases
    Access Rights
    Free to All
  • Determinants of Response to Nivolumab plus Ipilimumab in a Phase II Trial of Advanced Salivary Gland Cancer Patients

    Description

    Description from BioProject: "Salivary gland cancers (SGCs) are rare, aggressive cancers that lack effective treatments in the metastatic setting. We report the clinical results and immunogenomic correlates of response from a phase II trial evaluating nivolumab (anti-PD1) and ipilimumab (anti-CTLA4) in metastatic SGC patients."

    Subject
    Clinical Trial, Phase II
    Exome Sequencing
    Ipilimumab
    Nivolumab
    RNA-Seq
    Salivary Gland Neoplasms
    Access Rights
    Free to All
  • SUFAM v0.4.2

    Authors
    de Bruijn, Ino
    Lim, Raymond S.
    Ng, Charlotte K. Y.
    Reis-Filho, Jorge S.
    Description

    Description from Zenodo: "So yoU think you Found A Mutation (SUFAM)? SUFAM reports the mutant allele fraction (MAF), read counts and coverage of a given variant or mutation in a SAM/BAM/CRAM file. It is a Python wrapper around samtools mpileup that makes it straightforward to determine the MAF of a given mutation. Parsing the output of samtools mpileup is error prone, while SUFAM has been rigorously...

    Subject
    Exome Sequencing
    Mutation
    RNA-Seq
    Software
    Access Rights
    Free to All
  • Medulloblastoma (DKFZ, Nature 2017)

    Description

    Whole genome or whole exome sequencing of 491 previously untreated Medulloblastoma tumor/normal pairs. The clinical data consists of 491 samples from 491 patients, and includes mutation count, structural variants, patient demographics, and tumor subtypes. The data set also includes charts visualizing data summaries and a customizable plotting tool.

    Subject
    Exome Sequencing
    Genomics
    Medulloblastoma
    Mutation/genetics
    Whole Genome Sequencing
    Access Rights
    Free to All
  • Medulloblastoma (Broad, Nature 2012)

    Description

    Whole exome sequencing of 92 primary medulloblastoma tumor/normal pairs. The clinical data includes mutation count, information about mutated genes, mutation counts, TMB, and genomic profiles . The data set also includes charts visualizing data summaries and a customizable plotting tool.

    Subject
    Exome Sequencing
    Genomics
    Medulloblastoma
    Mutation/genetics
    Access Rights
    Free to All
  • RNA and whole-exome sequencing of 22 patients with non-small cell lung cancer

    Description

    Description from EGA: "Whole exome sequencing from pre-treatment samples and matched blood normals from 22 patients. Of these individuals, on-treatment samples are available for a subset of 18 patients. RNA sequencing from pre-treatment samples from 21 patients. Of these individuals, on-treatment samples are available for a subset of 15 patients."

    Subject
    Carcinoma, Non-Small-Cell Lung
    Exome Sequencing
    RNA-Seq
    Access Rights
    Application Required
  • The Genomic Landscape of Endocrine Resistant Advanced Breast Cancers: Paired Pre- and Post-endocrine Therapy Samples

    Authors
    Baselga, Jose
    Taylor, Barry Stephen
    Solit, David
    Description

    From the dbGaP study description: "The genomic evolution of breast cancers exposed to systemic therapy and its effects on clinical outcome have not been broadly characterized. We integrated the genomic sequencing of 1918 breast cancers, including 1501 hormone receptor-positive tumors, with detailed clinical information and treatment outcomes. Functional mutations in ERBB2 and loss-of-function mutations...

    Subject
    Breast Neoplasms
    Estrogen Receptor alpha
    Exome Sequencing
    Genomics
    Loss of Function Mutation
    Neoplasm Metastasis
    Access Rights
    Application Required
  • Bladder Chemotherapy Responders

    Authors
    Garraway, Levi A.
    Rosenberg, Jonathan Eric
    Description

    Description from dbGaP: "Cisplatin-based chemotherapy is the standard of care for patients with muscle invasive urothelial carcinoma. Pathologic downstaging to pT0/pTis after neoadjuvant cisplatin-based chemotherapy is associated with improved survival, and some patients with metastatic disease achieve complete responses to these therapies. However, the molecular determinants of cisplatin response...

    Subject
    Cisplatin
    Drug Therapy
    Exome Sequencing
    Neoplasm Metastasis
    Urinary Bladder Neoplasms
    Access Rights
    Application Required