CDCOCA: A statistical method to define complexity dependence of co-occuring chromosomal aberrations
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  • 作者:Nitin Kumar (1)
    Hubert Rehrauer (2)
    Haoyang Cai (1)
    Michael Baudis (1)
  • 刊名:BMC Medical Genomics
  • 出版年:2011
  • 出版时间:December 2011
  • 年:2011
  • 卷:4
  • 期:1
  • 全文大小:7906KB
  • 参考文献:1. Futreal P, Coin L, Marshall M, Down T, Hubbard T, Wooster R, Rahman N, Stratton M: A census of human cancer genes. / Nat Rev Cancer 2004,4(3):177鈥?3. CrossRef
    2. Stratton M, Campbell P, Futreal P: The cancer genome. / Nature 2009,458(7239):719鈥?4. CrossRef
    3. Kinzler K, Vogelstein B: Lessons from hereditary colorectal cancer. / Cell 1996,87(2):159鈥?0. CrossRef
    4. Hanahan D, Weinberg R: The hallmarks of cancer. / Cell 2000, 100:57鈥?0. CrossRef
    5. Lengauer C, Kinzler K, Vogelstein B: Genetic instabilities in human cancers. / Nature 1998,396(6712):643鈥?. CrossRef
    6. Stallings R: Origin and functional significance of large-scale chromosomal imbalances in neuroblastoma. / Cytogenet Genome Res 2007,118(2鈥?):110鈥?. [Copyright (c) 2007 S. Karger AG, Basel.] CrossRef
    7. Weir BA, Woo MS, Getz G, Perner S, Ding L, Beroukhim R, Lin WM, Province MA, Kraja A, Johnson LA, Shah K, Sato M, Thomas RK, Barletta JA, Borecki IB, Broderick S, Chang AC, Chiang DY, Chirieac LR, Cho J, Fujii Y, Gazdar AF, Giordano T, Greulich H, Hanna M, Johnson BE, Kris MG, Lash A, Lin L, Lindeman N, Mardis ER, McPherson JD, Minna JD, Morgan MB, Nadel M, Orringer MB, Osborne JR, Ozenberger B, Ramos AH, Robinson J, Roth JA, Rusch V, Sasaki H, Shepherd F, Sougnez C, Spitz MR, Tsao MS, Twomey D, Verhaak RGW, Weinstock GM, Wheeler DA, Winckler W, Yoshizawa A, Yu S, Zakowski MF, Zhang Q, Beer DG, Wistuba II, Watson MA, Garraway LA, Ladanyi M, Travis WD, Pao W, Rubin MA, Gabriel SB, Gibbs RA, Varmus HE, Wilson RK, Lander ES, Meyerson M: Characterizing the cancer genome in lung adenocarcinoma. / Nature 2007,450(7171):893鈥?. CrossRef
    8. Myllykangas S, Himberg J, Bohling T, Nagy B, Hollmen J, Knuutila S: DNA copy number amplification profiling of human neoplasms. / Oncogene 2006,25(55):7324鈥?2. CrossRef
    9. Coe B, Lockwood W, Girard L, Chari R, Macaulay C, Lam S, Gazdar A, Minna J, Lam W: Di erential disruption of cell cycle pathways in small cell and non-small cell lung cancer. / Br J Cancer 2006,94(12):1927鈥?5. CrossRef
    10. Baudis M: Genomic imbalances in 5918 malignant epithelial tumors: an explorative meta-analysis of chromosomal CGH data. / BMC Cancer 2007, 7:226. CrossRef
    11. Kallioniemi A, Kallioniemi O, Sudar D, Rutovitz D, Gray J, Waldman F, Pinkel D: Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. / Science 1992,258(5083):818鈥?1. CrossRef
    12. du Manoir S, Speicher M, Joos S, Schrock E, Popp S, Dohner H, Kovacs G, Robert-Nicoud M, Lichter P, Cremer T: Detection of complete and partial chromosome gains and losses by comparative genomic in situ hybridization. / Hum Genet 1993,90(6):590鈥?10.
    13. Joos S, Scherthan H, Speicher M, Schlegel J, Cremer T, Lichter P: Detection of amplified DNA sequences by reverse chromosome painting using genomic tumor DNA as probe. / Hum Genet 1993,90(6):584鈥?. CrossRef
    14. Solinas-Toldo S, Lampel S, Stilgenbauer S, Nickolenko J, Benner A, Dohner H, Cremer T, Lichter P: Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances. / Genes Chromosomes Cancer 1997,20(4):399鈥?07. CrossRef
    15. Pinkel D, Albertson D: Comparative genomic hybridization. / Annu Rev Genomics Hum Genet 2005, 6:331鈥?4. CrossRef
    16. Beroukhim R, Mermel C, Porter D, Wei G, Raychaudhuri S, Donovan J, Barretina J, Boehm J, Dobson J, Urashima M, Henry KM, Pinchback R, Ligon A, Cho Y, Haery L, Greulich H, Reich M, Winckler W, Lawrence M, Weir B, Tanaka K, Chiang D, Bass A, Loo A, Hoffman C, Prensner J, Liefeld T, Gao Q, Yecies D, Signoretti S, Maher E, Kaye F, Sasaki H, Tepper J, Fletcher J, Tabernero J, Baselga J, Tsao M, Demichelis F, Rubin M, Janne P, Daly M, Nucera C, Levine R, Ebert B, Gabriel S, Rustgi A, Antonescu C, Ladanyi M, Letai A, Garraway L, Loda M, Beer D, True L, Okamoto A, Pomeroy S, Singer S, Golub T, Lander E, Getz G, Sellers W, Meyerson M: The landscape of somatic copy-number alteration across human cancers. / Nature 2010,463(7283):899鈥?05. CrossRef
    17. Liu J, Ranka S, Kahveci T: Markers improve clustering of CGH data. / Bioinformatics 2007,23(4):450鈥?. CrossRef
    18. Hoglund M, Frigyesi A, Sall T, Gisselsson D, Mitelman F: Statistical behavior of complex cancer karyotypes. / Genes Chromosomes Cancer 2005,42(4):327鈥?1. [(c) 2005 Wiley-Liss, Inc.] CrossRef
    19. Desper R, Jiang F, Kallioniemi O, Moch H, Papadimitriou C, Schaffer A: Distance-based reconstruction of tree models for oncogenesis. / J Comput Biol 2000,7(6):789鈥?03. CrossRef
    20. Gerstung M, Baudis M, Moch H, Beerenwinkel N: Quantifying cancer progression with conjunctive Bayesian networks. / Bioinformatics 2009,25(21):2809鈥?5. CrossRef
    21. Vogelstein B, Fearon E, Hamilton S, Kern S, Preisinger A, Leppert M, Nakamura Y, White R, Smits A, Bos J: Genetic alterations during colorectal-tumor development. / N Engl J Med 1988,319(9):525鈥?2. CrossRef
    22. Dohner H, Stilgenbauer S, Benner A, Leupolt E, Krober A, Bullinger L, Dohner K, Bentz M, Lichter P: Genomic aberrations and survival in chronic lymphocytic leukemia. / N Engl J Med 2000,343(26):1910鈥?. CrossRef
    23. Bredel M, Scholtens D, Harsh G, Bredel C, Chandler J, Renfrow J, Yadav A, Vogel H, Scheck A, Tibshirani R, Sikic B: A network model of a cooperative genetic landscape in brain tumors. / JAMA 2009,302(3):261鈥?5. CrossRef
    24. Klijn C, Bot J, Adams D, Reinders M, Wessels L, Jonkers J: Identification of networks of co-occurring, tumor-related DNA copy number changes using a genome-wide scoring approach. / PLoS Comput Biol 2010, 6:e1000631. CrossRef
    25. Baudis M, Cleary ML: Progenetix.net: an online repository for molecular cytogenetic aberration data. / Bioinformatics 2001,17(12):1228鈥?. CrossRef
    26. Boerma E, Siebert R, Kluin P, Baudis M: Translocations involving 8q24 in Burkitt lymphoma and other malignant lymphomas: a historical review of cytogenetics in the light of todays knowledge. / Leukemia 2009, 23:225鈥?34. CrossRef
    27. Tan PN, Steinbach M, Kumar V: / Introduction to data mining. Bosotn, MA, USA: Addison Wesley; 2005.
    28. Eguchi S, Yamamoto Y, Sakano S, Chochi Y, Nakao M, Kawauchi S, Furuya T, Oga A, Matsuyama H, Sasaki K: The loss of 8p23.3 is a novel marker for predicting progression and recurrence of bladder tumors without muscle invasion. / Cancer Genet Cytogenet 2010, 200:16鈥?2. [2010 Elsevier Inc. All rights reserved.] CrossRef
    29. Wang Q, Moyret-Lalle C, Couzon F, Surbiguet-Clippe C, Saurin J, Lorca T, Navarro C, Puisieux A: Alterations of anaphase-promoting complex genes in human colon cancer cells. / Oncogene 2003,22(10):1486鈥?0. CrossRef
    30. Loro L, Johannessen A, Vintermyr O: Loss of BCL-2 in the progression of oral cancer is not attributable to mutations. / J Clin Pathol 2005,58(11):1157鈥?2. CrossRef
    31. Maliekal T, Antony M, Nair A, Paulmurugan R, Karunagaran D: Loss of expression, and mutations of Smad 2 and Smad 4 in human cervical cancer. / Oncogene 2003,22(31):4889鈥?7. CrossRef
    32. Lin HK, Chen Z, Wang G, Nardella C, Lee SW, Chan CH, Yang WL, Wang J, Egia A, Nakayama KI, Cordon-Cardo C, Teruya-Feldstein J, Pandolfi PP: Skp2 targeting suppresses tumorigenesis by Arf-p53-independent cellular senescence. / Nature 2010,464(7287):374鈥?. CrossRef
    33. Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertsen H, Joslyn G, Stevens J, Spirio L, Robertson M, al et: Identification and characterization of the familial adenomatous polyposis coli gene. / Cell 1991,66(3):589鈥?00. CrossRef
    34. Kinzler K, Nilbert M, Vogelstein B, Bryan T, Levy D, Smith K, Preisinger A, Hamilton S, Hedge P, Markham A, al et: Identification of a gene located at chromosome 5q21 that is mutated in colorectal cancers. / Science 1991,251(4999):1366鈥?0. CrossRef
    35. Nishisho I, Nakamura Y, Miyoshi Y, Miki Y, Ando H, Horii A, Koyama K, Utsunomiya J, Baba S, Hedge P: Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. / Science 1991,253(5020):665鈥?. CrossRef
    36. Ashton-Rickardt P, Wyllie A, Bird C, Dunlop M, Steel C, Morris R, Piris J, Romanowski P, Wood R, White R, al et: MCC, a candidate familial polyposis gene in 5q.21, shows frequent allele loss in colorectal and lung cancer. / Oncogene 1991,6(10):1881鈥?.
    37. Trauzold A, Roder C, Sipos B, Karsten K, Arlt A, Jiang P, Martin-Subero J, Siegmund D, Muerkoster S, Pagerols-Raluy L, Siebert R, Wajant H, Kalthoff H: CD95 and TRAF2 promote invasiveness of pancreatic cancer cells. / FASEB J 2005,19(6):620鈥?.
    38. Sugano N, Suda T, Godai T, Tsuchida K, Shiozawa M, Sekiguchi H, Yoshihara M, Matsukuma S, Sakuma Y, Tsuchiya E, Kameda Y, Akaike M, Miyagi Y: MDM2 gene amplification in colorectal cancer is associated with disease progression at the primary site, but inversely correlated with distant metastasis. / Genes Chromosomes Cancer 2010,49(7):620鈥?. [(c) 2010 Wiley-Liss, Inc.]
    39. Dierlamm J, Penas EM, Bentink S, Wessendorf S, Berger H, Hummel M, Klapper W, Lenze D, Rosenwald A, Haralambieva E, Ott G, Cogliatti S, Moller P, Schwaenen C, Stein H, Loffer M, Spang R, Trumper L, Siebert R: Gain of chromosome region 18q21 including the MALT1 gene is associated with the activated B-cell-like gene expression subtype and increased BCL2 gene dosage and protein expression in diffuse large B-cell lymphoma. / Haematologica 2008,93(5):688鈥?6. CrossRef
    40. Konnikova L, Simeone M, Kruger M, Kotecki M, Cochran B: Signal transducer and activator of transcription 3 (STAT3) regulates human telomerase reverse transcriptase (hTERT) expression in human cancer and primary cells. / Cancer Res 2005,65(15):6516鈥?0. CrossRef
    41. He B, Reguart N, You L, Mazieres J, Xu Z, Lee A, Mikami I, McCormick F, Jablons D: Blockade of Wnt-1 signaling induces apoptosis in human colorectal cancer cells containing downstream mutations. / Oncogene 2005,24(18):3054鈥?. CrossRef
    42. Shannon P, Markiel A, Ozier O, Baliga N, Wang J, Ramage D, Amin N, Schwikowski B, Ideker T: Cytoscape: a software environment for integrated models of biomolecular interaction networks. / Genome Research 2003, 13:2498鈥?504. CrossRef
    43. The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1755-8794/4/21/prepub
  • 作者单位:Nitin Kumar (1)
    Hubert Rehrauer (2)
    Haoyang Cai (1)
    Michael Baudis (1)

    1. Institute of Molecular Life Sciences, University of Zurich, Winterthurerstrasse 190, Zurich, Switzerland
    2. Functional Genomics Center Zurich, University of Zurich, Winterthurerstrasse 190, Zurich, Switzerland
  • ISSN:1755-8794
文摘
Background Copy number alterations (CNA) play a key role in cancer development and progression. Since more than one CNA can be detected in most tumors, frequently co-occurring genetic CNA may point to cooperating cancer related genes. Existing methods for co-occurrence evaluation so far have not considered the overall heterogeneity of CNA per tumor, resulting in a preferential detection of frequent changes with limited specificity for each association due to the high genetic instability of many samples. Method We hypothesize that in cancer some linkage-independent CNA may display a non-random co-occurrence, and that these CNA could be of pathogenetic relevance for the respective cancer. We also hypothesize that the statistical relevance of co-occurring CNA may depend on the sample specific CNA complexity. We verify our hypotheses with a simulation based algorithm CDCOCA (complexity dependence of co-occurring chromosomal aberrations). Results Application of CDCOCA to example data sets identified co-occurring CNA from low complex background which otherwise went unnoticed. Identification of cancer associated genes in these co-occurring changes can provide insights of cooperative genes involved in oncogenesis. Conclusions We have developed a method to detect associations of regional copy number abnormalities in cancer data. Along with finding statistically relevant CNA co-occurrences, our algorithm points towards a generally low specificity for co-occurrence of regional imbalances in CNA rich samples, which may have negative impact on pathway modeling approaches relying on frequent CNA events.

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