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Showing 1–22 of 22 results
Advanced filters: Author: Gabriel Lichtenstein Clear advanced filters
  • An integrated transcriptome, genome, methylome and proteome analysis of over 200 lung adenocarcinomas reveals high rates of somatic mutations, 18 statistically significantly mutated genes including RIT1 and MGA, splicing changes, and alterations in MAPK and PI(3)K pathway activity.

    • Eric A. Collisson
    • Joshua D. Campbell
    • Ming-Sound Tsao
    ResearchOpen Access
    Nature
    Volume: 511, P: 543-550
  • The Cancer Genome Atlas reports on molecular evaluation of 295 primary gastric adenocarcinomas and proposes a new classification of gastric cancers into 4 subtypes, which should help with clinical assessment and trials of targeted therapies.

    • Adam J. Bass
    • Vesteinn Thorsson
    • Jia Liu
    ResearchOpen Access
    Nature
    Volume: 513, P: 202-209
  • The Cancer Genome Atlas Research Network reports an integrative analysis of more than 400 samples of clear cell renal cell carcinoma based on genomic, DNA methylation, RNA and proteomic characterisation; frequent mutations were identified in the PI(3)K/AKT pathway, suggesting this pathway might be a potential therapeutic target, among the findings is also a demonstration of metabolic remodelling which correlates with tumour stage and severity.

    • Chad J. Creighton
    • Margaret Morgan
    • Heidi J. Sofia.
    ResearchOpen Access
    Nature
    Volume: 499, P: 43-49
  • The Cancer Genome Atlas presents an integrative genome-wide analysis of genetic alterations in 279 head and neck squamous cell carcinomas (HNSCCs), which are classified by human papillomavirus (HPV) status; alterations in EGFR, FGFR, PIK3CA and cyclin-dependent kinases are shown to represent candidate targets for therapeutic intervention in most HNSCCs.

    • Michael S. Lawrence
    • Carrie Sougnez
    • Wendell G. Yarbrough
    ResearchOpen Access
    Nature
    Volume: 517, P: 576-582
  • This paper reports integrative molecular analyses of urothelial bladder carcinoma at the DNA, RNA, and protein levels performed as part of The Cancer Genome Atlas project; recurrent mutations were found in 32 genes, including those involved in cell-cycle regulation, chromatin regulation and kinase signalling pathways; chromatin regulatory genes were more frequently mutated in urothelial carcinoma than in any other common cancer studied so far.

    • John N. Weinstein
    • Rehan Akbani
    • Greg Eley
    ResearchOpen Access
    Nature
    Volume: 507, P: 315-322
  • A study describes the release of clinical-grade whole-genome sequence data for 245,388 diverse participants by the All of Us Research Program and characterizes the properties of the dataset.

    • Alexander G. Bick
    • Ginger A. Metcalf
    • Joshua C. Denny
    ResearchOpen Access
    Nature
    Volume: 627, P: 340-346
  • This paper describes molecular subtypes of cervical cancers, including squamous cell carcinoma and adenocarcinoma clusters defined by HPV status and molecular features, and distinct molecular pathways that are activated in cervical carcinomas caused by different somatic alterations and HPV types.

    • Robert D. Burk
    • Zigui Chen
    • David Mutch
    ResearchOpen Access
    Nature
    Volume: 543, P: 378-384
  • Whole-exome sequencing and analysis of 115 cervical carcinoma–normal paired samples, in addition to transcriptome and whole-genome sequencing for a subset of these tumours, reveal novel genes mutated at significant levels within this cohort and provide evidence that HPV integration is a common mechanism for target gene overexpression; results also compare mutational landscapes between squamous cell carcinomas and adenocarcinomas.

    • Akinyemi I. Ojesina
    • Lee Lichtenstein
    • Matthew Meyerson
    Research
    Nature
    Volume: 506, P: 371-375
  • Whole-exome sequencing (WES) has emerged as a transformative technology for biological discovery, but technical difficulties have so far prevented its widespread clinical use. Here, Eliezer Van Allen and colleagues are able to perform production-scale WES on small amounts of clinically acquired formalin-fixed, paraffin-embedded tumor tissues. Using a newly created WES clinical interpretation algorithm, they apply the complete clinical WES framework prospectively to patients and demonstrate how it can be used to directly affect patient care.

    • Eliezer M Van Allen
    • Nikhil Wagle
    • Levi A Garraway
    Research
    Nature Medicine
    Volume: 20, P: 682-688
  • The genetics of schizophrenia and other mental disorders are complex and poorly understood, and made even harder to study due to reduced reproduction resulting in negative selection pressure on risk alleles. Two independent large-scale genome wide studies of thousands of patients and controls by two international consortia confirm a previously identified locus, but also reveal novel associations. In this study, deletions were reported on chromosomes 1 and 15, as well as a greater overall frequency of copy number variation in the genome.

    • Jennifer L. Stone
    • Michael C. O’Donovan
    • Pamela Sklar
    Research
    Nature
    Volume: 455, P: 237-241
  • Björn Usadel and colleagues report the genome sequence of the wild tomato species Solanum pennellii. The authors identify genes important for stress tolerance, metabolism and fruit maturation and suggest that transposable elements have had an important role in the evolution of the S. penellii stress response.

    • Anthony Bolger
    • Federico Scossa
    • Alisdair R Fernie
    ResearchOpen Access
    Nature Genetics
    Volume: 46, P: 1034-1038
  • As the sample size in cancer genome studies increases, the list of genes identified as significantly mutated is likely to include more false positives; here, this problem is identified as stemming largely from mutation heterogeneity, and a new analytical methodology designed to overcome this problem is described.

    • Michael S. Lawrence
    • Petar Stojanov
    • Gad Getz
    Research
    Nature
    Volume: 499, P: 214-218
  • In the second of three papers on the genetics of schizophrenia, a large genome-wide association study looking at common genetic variants underlying the risk of schizophrenia implicates the major histocompatibility complex — and thus, immunity — and provides molecular genetic evidence for a substantial polygenic component to the risk of schizophrenia. The latter involves thousands of common alleles of very small effect that also contribute to the risk of bipolar disorder.

    • Shaun M. Purcell
    • Naomi R. Wray
    • Pamela Sklar
    Research
    Nature
    Volume: 460, P: 748-752
  • This paper reports the genome sequence of domesticated tomato, a major crop plant, and a draft sequence for its closest wild relative; comparative genomics reveal very little divergence between the two genomes but some important differences with the potato genome, another important food crop in the genus Solanum.

    • Shusei Sato
    • Satoshi Tabata
    • René M. Klein Lankhorst
    ResearchOpen Access
    Nature
    Volume: 485, P: 635-641