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Showing 1–12 of 12 results
Advanced filters: Author: J Cyriac Clear advanced filters

  • With the generation of large pan-cancer whole-exome and whole-genome sequencing projects, a question remains about how comparable these datasets are. Here, using The Cancer Genome Atlas samples analysed as part of the Pan-Cancer Analysis of Whole Genomes project, the authors explore the concordance of mutations called by whole exome sequencing and whole genome sequencing techniques.

    • Matthew H. Bailey
    • William U. Meyerson
    • Christian von Mering
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-27

  • An integrative genomic analysis of several hundred endometrial carcinomas shows that a minority of tumour samples carry copy number alterations or TP53 mutations and many contain key cancer-related gene mutations, such as those involved in canonical pathways and chromatin remodelling; a reclassification of endometrial tumours into four distinct types is proposed, which may have an effect on patient treatment regimes.

    • Douglas A. Levine
    • Gad Getz
    • Douglas A. Levine
    ResearchOpen Access
    Nature
    Volume: 497, P: 67-73

  • As part of The Cancer Genome Atlas Pan-Cancer effort, data analysis for point mutations and small indels from 3,281 tumours and 12 tumour types is presented; among the findings are 127 significantly mutated genes from cellular processes with both established and emerging links in cancer, and an indication that the number of driver mutations required for oncogenesis is relatively small.

    • Cyriac Kandoth
    • Michael D. McLellan
    • Li Ding
    ResearchOpen Access
    Nature
    Volume: 502, P: 333-339

  • Cancer genetics has benefited from the advent of next generation sequencing, yet a comparison of sequencing and analysis techniques is lacking. Here, the authors sequence a normal-tumour pair and perform data analysis at multiple institutes and highlight some of the pitfalls associated with the different methods.

    • Tyler S. Alioto
    • Ivo Buchhalter
    • Ivo G. Gut
    ResearchOpen Access
    Nature Communications
    Volume: 6, P: 1-13

  • Published sequencing data sets of cancer samples could be used to identify genetic variants associated with the risk of developing cancer. Here, Luet al. analyse over 4,000 tumour-normal pairs to reveal variable frequencies of inherited susceptibilities across 12 cancer types and find enrichment of functionally validated missense variants of unknown significance.

    • Charles Lu
    • Mingchao Xie
    • Li Ding
    ResearchOpen Access
    Nature Communications
    Volume: 6, P: 1-13

  • Whole-genome analysis of oestrogen-receptor-positive tumours in patients treated with aromatase inhibitors show that distinct phenotypes are associated with specific patterns of somatic mutations; however, most recurrent mutations are relatively infrequent so prospective clinical trials will require comprehensive sequencing and large study populations.

    • Matthew J. Ellis
    • Li Ding
    • Elaine R. Mardis
    ResearchOpen Access
    Nature
    Volume: 486, P: 353-360

  • Ovarian cancer is one of the most common cancers in women and has an average 5-year survival of only 43%. Here, Kanchi et al.describe the germline and somatic mutation spectrum in ovarian cancer patients and identify potential risk variants associated with the disease.

    • Krishna L. Kanchi
    • Kimberly J. Johnson
    • Li Ding
    Research
    Nature Communications
    Volume: 5, P: 1-14

  • 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

  • David Ellison and colleagues report whole-genome sequencing of pediatric low-grade gliomas, the most common pediatric brain tumor. They identify a range of genomic alterations, including recurrent and mutually exclusive duplications of the FGFR1 region encoding the tyrosine kinase domain and rearrangements of MYB.

    • Jinghui Zhang
    • Gang Wu
    • David W Ellison
    Research
    Nature Genetics
    Volume: 45, P: 602-612

  • Current clinical practice is organized according to tissue or organ of origin of tumors. Now, The Cancer Genome Atlas (TCGA) Research Network has started to identify genomic and other molecular commonalities among a dozen different types of cancer. Emerging similarities and contrasts will form the basis for targeted therapies of the future and for repurposing existing therapies by molecular rather than histological similarities of the diseases.

    • Kyle Chang
    • Chad J Creighton
    • Joshua M Stuart
    Comments & OpinionOpen Access
    Nature Genetics
    Volume: 45, P: 1113-1120