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

  • Massively parallel DNA sequencing allows entire genomes to be screened for genetic changes associated with tumour progression. Here, the genomes of four DNA samples from a 44-year-old African-American patient with basal-like breast cancer were analysed. The samples came from peripheral blood, the primary tumour, a brain metastasis and a xenograft derived from the primary tumour. The findings indicate that cells with a distinct subset of the primary tumour mutation might be selected during metastasis and xenografting.

    • Li Ding
    • Matthew J. Ellis
    • Elaine R. Mardis
    Research
    Nature
    Volume: 464, P: 999-1005

  • This software package provides genome-wide detection of structural variants (insertions, deletions, inversions and inter- and intrachromosomal translocations) from 50-base-pair paired-end reads. The sizes of the detected variants vary from 10 base pairs to 1 megabase pair.

    • Ken Chen
    • John W Wallis
    • Elaine R Mardis
    Research
    Nature Methods
    Volume: 6, P: 677-681

  • 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

  • The Cancer Genome Atlas Network describe their multifaceted analyses of primary breast cancers, shedding light on breast cancer heterogeneity; although only three genes (TP53, PIK3CA and GATA3) are mutated at a frequency greater than 10% across all breast cancers, numerous subtype-associated and novel mutations were identified.

    • Daniel C. Koboldt
    • Robert S. Fulton
    • Jacqueline D. Palchik
    ResearchOpen Access
    Nature
    Volume: 490, P: 61-70

  • Matthew Walter and colleagues report the whole-genome sequencing of a secondary acute myeloid leukemia sample and a matched normal tissue sample. Further analysis of additional subjects identified recurrent mutations in U2AF1 in 13/150 (8.7%) individuals with myelodysplastic syndrome.

    • Timothy A Graubert
    • Dong Shen
    • Matthew J Walter
    Research
    Nature Genetics
    Volume: 44, P: 53-57

  • 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