Landscape of somatic mutations in 560 breast cancer whole-genome sequences
Tóm tắt
Từ khóa
Tài liệu tham khảo
Nik-Zainal, S. et al. Mutational processes molding the genomes of 21 breast cancers. Cell 149, 979–993 (2012)
Hicks, J. et al. Novel patterns of genome rearrangement and their association with survival in breast cancer. Genome Res. 16, 1465–1479 (2006)
Bergamaschi, A. et al. Extracellular matrix signature identifies breast cancer subgroups with different clinical outcome. J. Pathol. 214, 357–367 (2008)
Ching, H. C., Naidu, R., Seong, M. K., Har, Y. C. & Taib, N. A. Integrated analysis of copy number and loss of heterozygosity in primary breast carcinomas using high-density SNP array. Int. J. Oncol. 39, 621–633 (2011)
Fang, M. et al. Genomic differences between estrogen receptor (ER)-positive and ER-negative human breast carcinoma identified by single nucleotide polymorphism array comparative genome hybridization analysis. Cancer 117, 2024–2034 (2011)
Curtis, C. et al. The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups. Nature 486, 346–352 (2012)
Pleasance, E. D. et al. A comprehensive catalogue of somatic mutations from a human cancer genome. Nature 463, 191–196 (2010)
Pleasance, E. D. et al. A small-cell lung cancer genome with complex signatures of tobacco exposure. Nature 463, 184–190 (2010)
Banerji, S. et al. Sequence analysis of mutations and translocations across breast cancer subtypes. Nature 486, 405–409 (2012)
Ellis, M. J. et al. Whole-genome analysis informs breast cancer response to aromatase inhibition. Nature 486, 353–360 (2012)
Shah, S. P. et al. The clonal and mutational evolution spectrum of primary triple-negative breast cancers. Nature 486, 395–399 (2012)
Stephens, P. J. et al. The landscape of cancer genes and mutational processes in breast cancer. Nature 486, 400–404 (2012)
The Cancer Genome Atlas Network Comprehensive molecular portraits of human breast tumours. Nature 490, 61–70 (2012)
Wu, Y. M. et al. Identification of targetable FGFR gene fusions in diverse cancers. Cancer Discovery 3, 636–647 (2013)
Giacomini, C. P. et al. Breakpoint analysis of transcriptional and genomic profiles uncovers novel gene fusions spanning multiple human cancer types. PLoS Genet. 9, e1003464 (2013)
Robinson, D. R. et al. Functionally recurrent rearrangements of the MAST kinase and Notch gene families in breast cancer. Nature Med. 17, 1646–1651 (2011)
Karlsson, J. et al. Activation of human telomerase reverse transcriptase through gene fusion in clear cell sarcoma of the kidney. Cancer Lett. 357, 498–501 (2015)
Khurana, E. et al. Integrative annotation of variants from 1092 humans: application to cancer genomics. Science 342, 1235587 (2013)
West, J. A. et al. The long noncoding RNAs NEAT1 and MALAT1 bind active chromatin sites. Mol. Cell 55, 791–802 (2014)
Huang, F. W. et al. Highly recurrent TERT promoter mutations in human melanoma. Science 339, 957–959 (2013)
Vinagre, J. et al. Frequency of TERT promoter mutations in human cancers. Nature Commun. 4, 2185 (2013)
Alexandrov, L. B. et al. Signatures of mutational processes in human cancer. Nature 500, 415–421 (2013)
Alexandrov, L. B., Nik-Zainal, S., Wedge, D. C., Campbell, P. J. & Stratton, M. R. Deciphering signatures of mutational processes operative in human cancer. Cell Rep. 3, 246–259 (2013)
Lawrence, M. S. et al. Discovery and saturation analysis of cancer genes across 21 tumour types. Nature 505, 495–501 (2014)
Natrajan, R. et al. Characterization of the genomic features and expressed fusion genes in micropapillary carcinomas of the breast. J. Pathol. 232, 553–565 (2014)
Kalyana-Sundaram, S. et al. Gene fusions associated with recurrent amplicons represent a class of passenger aberrations in breast cancer. Neoplasia 14, 702–708 (2012)
Weinhold, N., Jacobsen, A., Schultz, N., Sander, C. & Lee, W. Genome-wide analysis of noncoding regulatory mutations in cancer. Nature Genet. 46, 1160–1165 (2014)
Ussery, D. W., Binnewies, T. T., Gouveia-Oliveira, R., Jarmer, H. & Hallin, P. F. Genome update: DNA repeats in bacterial genomes. Microbiology 150, 3519–3521 (2004)
Lu, S. et al. Short inverted repeats are hotspots for genetic instability: relevance to cancer genomes. Cell Rep. 10, 1674–1680 (2015)
Voineagu, I., Narayanan, V., Lobachev, K. S. & Mirkin, S. M. Replication stalling at unstable inverted repeats: interplay between DNA hairpins and fork stabilizing proteins. Proc. Natl Acad. Sci. USA 105, 9936–9941 (2008)
Wojcik, E. A. et al. Direct and inverted repeats elicit genetic instability by both exploiting and eluding DNA double-strand break repair systems in mycobacteria. PLoS ONE 7, e51064 (2012)
Pearson, C. E., Zorbas, H., Price, G. B. & Zannis-Hadjopoulos, M. Inverted repeats, stem-loops, and cruciforms: significance for initiation of DNA replication. J. Cell. Biochem. 63, 1–22 (1996)
Kozak, M. Interpreting cDNA sequences: some insights from studies on translation. Mamm. Genome 7, 563–574 (1996)
Helleday, T., Eshtad, S. & Nik-Zainal, S. Mechanisms underlying mutational signatures in human cancers. Nature Rev. Genet. 15, 585–598 (2014)
Birkbak, N. J. et al. Telomeric allelic imbalance indicates defective DNA repair and sensitivity to DNA-damaging agents. Cancer Disc. 2, 366–375 (2012)
Abkevich, V. et al. Patterns of genomic loss of heterozygosity predict homologous recombination repair defects in epithelial ovarian cancer. Br. J. Cancer 107, 1776–1782 (2012)
Popova, T. et al. Ploidy and large-scale genomic instability consistently identify basal-like breast carcinomas with BRCA1/2 inactivation. Cancer Res. 72, 5454–5462 (2012)
Puente, X. S. et al. Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia. Nature 475, 101–105 (2011)
Morganella, S. A. et al. The topography of mutational processes in breast cancer genomes. Nature Commun. http://dx.doi.org/10.1038/ncomms11383 (2016)
Fong, P. C. et al. Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers. N. Engl. J. Med. 361, 123–134 (2009)
Forster, M. D. et al. Treatment with olaparib in a patient with PTEN-deficient endometrioid endometrial cancer. Nature Rev. Clin. Oncol. 8, 302–306 (2011)
Turner, N., Tutt, A. & Ashworth, A. Targeting the DNA repair defect of BRCA tumours. Curr. Opin. Pharmacol. 5, 388–393 (2005)
Waddell, N. et al. Whole genomes redefine the mutational landscape of pancreatic cancer. Nature 518, 495–501 (2015)
Kozarewa, I. et al. Amplification-free Illumina sequencing-library preparation facilitates improved mapping and assembly of (G+C)-biased genomes. Nature Methods 6, 291–295 (2009)
Li, H. & Durbin, R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25, 1754–1760 (2009)
Ye, K., Schulz, M. H., Long, Q., Apweiler, R. & Ning, Z. Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads. Bioinformatics 25, 2865–2871 (2009)
Zerbino, D. R. & Birney, E. Velvet: algorithms for de novo short read assembly using de Bruijn graphs. Genome Res. 18, 821–829 (2008)
Van Loo, P. et al. Allele-specific copy number analysis of tumors. Proc. Natl Acad. Sci. USA 107, 16910–16915 (2010)
Greenman, C., Wooster, R., Futreal, P. A., Stratton, M. R. & Easton, D. F. Statistical analysis of pathogenicity of somatic mutations in cancer. Genetics 173, 2187–2198 (2006)
Lawrence, M. S. et al. Mutational heterogeneity in cancer and the search for new cancer-associated genes. Nature 499, 214–218 (2013)
Sun, L., Craiu, R. V., Paterson, A. D. & Bull, S. B. Stratified false discovery control for large-scale hypothesis testing with application to genome-wide association studies. Genet. Epidemiol. 30, 519–530 (2006)
The ENCODE Project Consortium An integrated encyclopedia of DNA elements in the human genome. Nature 489, 57–74 (2012)
Wilkerson, M. D. & Hayes, D. N. ConsensusClusterPlus: a class discovery tool with confidence assessments and item tracking. Bioinformatics 26, 1572–1573 (2010)
Zhang, H., Meltzer, P. & Davis, S. RCircos: an R package for Circos 2D track plots. BMC Bioinformatics 14, 244 (2013)