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USP8 and TP53 drivers are associated with CNV in a corticotroph adenoma cohort enriched for aggressive tumors
- Authors
- Uzilov, AndrewGeer, 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....
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ACTH-Secreting Pituitary AdenomaAdrenocorticotropic HormoneExome SequencingGenomicsPituitary ACTH Hypersecretion
- Access Rights
- Free to All
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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, Rachael17 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
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Carcinoma, Adenoid CysticExome SequencingTriple Negative Breast Neoplasms
- Access Rights
- Free to All
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Table S5 from Phase II Clinical Trial of Everolimus in a Pan-Cancer Cohort of Patients with mTOR Pathway Alterations
- Authors
- Adib, ElioKlonowska, KatarzynaGiannikou, KrinioDo, 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."
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Clinical Trial, Phase IIEverolimusExome SequencingNeoplasms/drug therapyNucleotidesTOR Serine-Threonine Kinases
- Access Rights
- Free to All
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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."
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Clinical Trial, Phase IIExome SequencingIpilimumabNivolumabRNA-SeqSalivary Gland Neoplasms
- Access Rights
- Free to All
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SUFAM v0.4.2
- Authors
- de Bruijn, InoLim, 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...
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Exome SequencingMutationRNA-SeqSoftware
- Access Rights
- Free to All
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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.
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Exome SequencingGenomicsMedulloblastomaMutation/geneticsWhole Genome Sequencing
- Access Rights
- Free to All
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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.
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Exome SequencingGenomicsMedulloblastomaMutation/genetics
- Access Rights
- Free to All
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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."
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Carcinoma, Non-Small-Cell LungExome SequencingRNA-Seq
- Access Rights
- Application Required
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The Genomic Landscape of Endocrine Resistant Advanced Breast Cancers: Paired Pre- and Post-endocrine Therapy Samples
- Authors
- Baselga, JoseTaylor, Barry StephenSolit, 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...
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Breast NeoplasmsEstrogen Receptor alphaExome SequencingGenomicsLoss of Function MutationNeoplasm Metastasis
- Access Rights
- Application Required
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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...
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CisplatinDrug TherapyExome SequencingNeoplasm MetastasisUrinary Bladder Neoplasms
- Access Rights
- Application Required