The cancer genomics and global cancer genome collaboration

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• 作者：Xueda Hu (1)
  Huanming Yang (2) (3)
  Jie He (1)
  Youyong Lu (4)
  
  1. Department of Thoracic Surgery ; Cancer Institute and Hospital ; Chinese Academy of Medical Sciences ; Beijing ; 100021 ; China
  2. BGI-Shenzhen ; Shenzhen ; 518083 ; China
  3. James D. Watson Institute of Genome Sciences ; Hangzhou ; 310029 ; China
  4. Laboratory of Molecular Oncology ; Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education) ; Peking University Cancer Hospital and Institute ; Beijing ; 100142 ; China
  
• 关键词：Cancer genome ; International Cancer Genome Consortium ; Sequencing ; Mutation
• 刊名：Chinese Science Bulletin
• 出版年：2015
• 出版时间：January 2015
• 年：2015
• 卷：60
• 期：1
• 页码：65-70
• 全文大小：462 KB
• 参考文献：1. Hanahan D, Weinberg RA (2011) Hallmarks of cancer: the next generation. Cell 144:646鈥?74 CrossRef
  2. Hanahan D, Weinberg RA (2000) The hallmarks of cancer. Cell 100:57鈥?0 CrossRef
  3. Dulbecco R (1986) A turning point in cancer research: sequencing the human genome. Science 231:1055鈥?056 CrossRef
  4. Venter JC, Adams MD, Myers EW et al (2001) The sequence of the human genome. Science 291:1304鈥?351 CrossRef
  5. Lander ES, Linton LM, Birren B et al (2001) Initial sequencing and analysis of the human genome. Nature 409:860鈥?21 CrossRef
  6. International Human Genome Sequencing C (2004) Finishing the euchromatic sequence of the human genome. Nature 431:931鈥?45 CrossRef
  7. International Cancer Genome C (2010) International network of cancer genome projects. Nature 464:993鈥?98 CrossRef
  8. Toronto International Data Release Workshop A (2009) Prepublication data sharing. Nature 461:168鈥?70 CrossRef
  9. Alexandrov LB, Nik-Zainal S, Wedge DC et al (2013) Signatures of mutational processes in human cancer. Nature 500:415鈥?21 CrossRef
  10. Nik-Zainal S, Van Loo P, Wedge DC et al (2012) The life history of 21 breast cancers. Cell 149:994鈥?007 CrossRef
  11. Papaemmanuil E, Cazzola M, Boultwood J et al (2011) Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. N Engl J Med 365:1384鈥?395 CrossRef
  12. Malcovati L, Papaemmanuil E, Bowen DT et al (2011) Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms. Blood 118:6239鈥?246 CrossRef
  13. Papaemmanuil E, Gerstung M, Malcovati L et al (2013) Clinical and biological implications of driver mutations in myelodysplastic syndromes. Blood 122:3616鈥?627 quiz 3699 CrossRef
  14. India Project Team of the International Cancer Genome C (2013) Mutational landscape of gingivo-buccal oral squamous cell carcinoma reveals new recurrently-mutated genes and molecular subgroups. Nat Commun 4:2873
  15. Jones DT, Hutter B, Jager N et al (2013) Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma. Nat Genet 45:927鈥?32 CrossRef
  16. Tirode F, Surdez D, Ma X et al (2014) Genomic landscape of Ewing sarcoma defines an aggressive subtype with co-association of STAG2 and TP53 mutations. Cancer Discov 4:1342鈥?353 CrossRef
  17. Dove ES, Joly Y, Tasse AM et al (2014) Genomic cloud computing: legal and ethical points to consider. Eur J Hum Genet. doi:10.1038/ejhg.2014.196
  18. Gonzalez-Perez A, Mustonen V, Reva B et al (2013) Computational approaches to identify functional genetic variants in cancer genomes. Nat Methods 10:723鈥?29 CrossRef
  19. Wong CC, Martincorena I, Rust AG et al (2014) Inactivating CUX1 mutations promote tumorigenesis. Nat Genet 46:33鈥?8 CrossRef
  20. Yan XJ, Xu J, Gu ZH et al (2011) Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia. Nat Genet 43:309鈥?15 CrossRef
  21. Cao Y, Gao Z, Li L et al (2013) Whole exome sequencing of insulinoma reveals recurrent T372R mutations in YY1. Nat Commun 4:2810
  22. Cao Y, He M, Gao Z et al (2014) Activating hotspot L205R mutation in PRKACA and adrenal Cushing鈥檚 syndrome. Science 344:913鈥?17 CrossRef
  23. Guo G, Sun X, Chen C et al (2013) Whole-genome and whole-exome sequencing of bladder cancer identifies frequent alterations in genes involved in sister chromatid cohesion and segregation. Nat Genet 45:1459鈥?463 CrossRef
  24. Gui Y, Guo G, Huang Y et al (2011) Frequent mutations of chromatin remodeling genes in transitional cell carcinoma of the bladder. Nat Genet 43:875鈥?78 CrossRef
  25. Guo G, Gui Y, Gao S et al (2012) Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma. Nat Genet 44:17鈥?9 CrossRef
  26. Lin DC, Hao JJ, Nagata Y et al (2014) Genomic and molecular characterization of esophageal squamous cell carcinoma. Nat Genet 46:467鈥?73 CrossRef
  27. Song Y, Li L, Ou Y et al (2014) Identification of genomic alterations in oesophageal squamous cell cancer. Nature 509:91鈥?5 CrossRef
  28. Gao YB, Chen ZL, Li JG et al (2014) Genetic landscape of esophageal squamous cell carcinoma. Nat Genet 46:1097鈥?102 CrossRef
  29. Huang J, Deng Q, Wang Q et al (2012) Exome sequencing of hepatitis B virus-associated hepatocellular carcinoma. Nat Genet 44:1117鈥?121 CrossRef
  30. Li M, Zhao H, Zhang X et al (2011) Inactivating mutations of the chromatin remodeling gene ARID2 in hepatocellular carcinoma. Nat Genet 43:828鈥?29 CrossRef
  31. Kan Z, Zheng H, Liu X et al (2013) Whole-genome sequencing identifies recurrent mutations in hepatocellular carcinoma. Genome Res 23:1422鈥?433 CrossRef
  32. Sung WK, Zheng H, Li S et al (2012) Genome-wide survey of recurrent HBV integration in hepatocellular carcinoma. Nat Genet 44:765鈥?69 CrossRef
  33. Tao Y, Ruan J, Yeh SH et al (2011) Rapid growth of a hepatocellular carcinoma and the driving mutations revealed by cell-population genetic analysis of whole-genome data. Proc Natl Acad Sci USA 108:12042鈥?2047 CrossRef
  34. Zong C, Lu S, Chapman AR et al (2012) Genome-wide detection of single-nucleotide and copy-number variations of a single human cell. Science 338:1622鈥?626 CrossRef
  35. Ni X, Zhuo M, Su Z et al (2013) Reproducible copy number variation patterns among single circulating tumor cells of lung cancer patients. Proc Natl Acad Sci USA 110:21083鈥?1088 CrossRef
  36. Hou Y, Song L, Zhu P et al (2012) Single-cell exome sequencing and monoclonal evolution of a JAK2-negative myeloproliferative neoplasm. Cell 148:873鈥?85 CrossRef
  37. Li Y, Xu X, Song L et al (2012) Single-cell sequencing analysis characterizes common and cell-lineage-specific mutations in a muscle-invasive bladder cancer. GigaScience 1:12 CrossRef
  38. Xu X, Hou Y, Yin X et al (2012) Single-cell exome sequencing reveals single-nucleotide mutation characteristics of a kidney tumor. Cell 148:886鈥?95 CrossRef
  39. Yu C, Yu J, Yao X et al (2014) Discovery of biclonal origin and a novel oncogene SLC12A5 in colon cancer by single-cell sequencing. Cell Res 24:701鈥?12 CrossRef
  
• 刊物主题：Science, general; Life Sciences, general; Physics, general; Chemistry/Food Science, general; Earth Sciences, general; Engineering, general;
• 出版者：Springer Berlin Heidelberg
• ISSN：1861-9541

文摘

All cancers arise as a result of abnormalities occurring in the DNA sequence of cancer cells, and we are now stepping into an era in which it is feasible to obtain the complete DNA sequence of large cohorts of cancer patients. The International Cancer Genome Consortium (ICGC) launched in 2007 is devoted to coordinate large-scale cancer genome studies in tumors from 50 different cancer types and/or subtypes and systematic studies of more than 25,000 cancer genomes. Several participant groups have summarized and published their data for various cancers. As the active members of ICGC, Chinese cancer genome investigators have contributed research for 13 tumor types and released some research articles about esophageal, liver, bladder, and kidney cancers. As genetic alterations in thousands of tumors have now been catalogued, the pan-cancer analysis has become the most significant role of ICGC at present. The ICGC research network will reveal the repertoire of oncogenic mutations, uncover traces of the mutagenic influences, define molecular subtypes for clinical implication, and enable the development of individual therapeutics for human cancers.