메뉴 건너뛰기




Volumn 13, Issue 2, 2013, Pages 167-181

The role of high-throughput technologies in clinical cancer genomics

Author keywords

array CGH; cancer; cancer genomics; next generation sequencing; oncology; personalized medicine; pyrosequencing; SNP CGH; targeted therapy

Indexed keywords

BIOLOGICAL MARKER; CETUXIMAB; CRIZOTINIB; DASATINIB; ERLOTINIB; GEFITINIB; IMATINIB; LAPATINIB; NILOTINIB; PANITUMUMAB; PERTUZUMAB; RETINOIC ACID; SUNITINIB; TRASTUZUMAB; VANDETANIB; VEMURAFENIB;

EID: 84874839849     PISSN: 14737159     EISSN: 17448352     Source Type: Journal    
DOI: 10.1586/erm.13.1     Document Type: Review
Times cited : (29)

References (98)
  • 1
    • 38949178846 scopus 로고    scopus 로고
    • Favorable long-term follow-up results over years for response, survival, and safety with imatinib mesylate therapy in chronic-phase chronic myeloid leukemia after failure of interferon-α treatment
    • Hochhaus A, Druker B, Sawyers C et al. Favorable long-term follow-up results over years for response, survival, and safety with imatinib mesylate therapy in chronic-phase chronic myeloid leukemia after failure of interferon-α treatment. Blood 111(3), 1039-1043 (2008).
    • (2008) Blood , vol.111 , Issue.3 , pp. 1039-1043
    • Hochhaus, A.1    Druker, B.2    Sawyers, C.3
  • 2
    • 77956838065 scopus 로고    scopus 로고
    • Advances in understanding cancer genomes through second-generation sequencing
    • Meyerson M, Gabriel S, Getz G. Advances in understanding cancer genomes through second-generation sequencing. Nat. Rev. Genet. 11(10), 685-696 (2010).
    • (2010) Nat. Rev. Genet. , vol.11 , Issue.10 , pp. 685-696
    • Meyerson, M.1    Gabriel, S.2    Getz, G.3
  • 3
    • 55549101623 scopus 로고    scopus 로고
    • DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome
    • Ley TJ, Mardis ER, Ding L et al. DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature 456(7218), 66-72 (2008).
    • (2008) Nature , vol.456 , Issue.7218 , pp. 66-72
    • Ley, T.J.1    Mardis, E.R.2    Ding, L.3
  • 4
    • 70149093912 scopus 로고    scopus 로고
    • Recurring mutations found by sequencing an acute myeloid leukemia genome
    • Mardis ER, Ding L, Dooling DJ et al. Recurring mutations found by sequencing an acute myeloid leukemia genome. N. Engl. J. Med. 361(11), 1058-1066 (2009).
    • (2009) N. Engl. J. Med. , vol.361 , Issue.11 , pp. 1058-1066
    • Mardis, E.R.1    Ding, L.2    Dooling, D.J.3
  • 5
    • 74449093973 scopus 로고    scopus 로고
    • A comprehensive catalogue of somatic mutations from a human cancer genome
    • Pleasance ED, Cheetham RK, Stephens PJ et al. A comprehensive catalogue of somatic mutations from a human cancer genome. Nature 463(7278), 191-196 (2010).
    • (2010) Nature , vol.463 , Issue.7278 , pp. 191-196
    • Pleasance, E.D.1    Cheetham, R.K.2    Stephens, P.J.3
  • 6
    • 4444344330 scopus 로고    scopus 로고
    • EGF receptor gene mutations are common in lung cancers from 'never smokers' and are associated with sensitivity of tumors to gefitinib and erlotinib
    • Pao W, Miller V, Zakowski M et al. EGF receptor gene mutations are common in lung cancers from 'never smokers' and are associated with sensitivity of tumors to gefitinib and erlotinib. Proc. Natl Acad. Sci. USA 101(36), 13306-13311 (2004).
    • (2004) Proc. Natl Acad. Sci. USA , vol.101 , Issue.36 , pp. 13306-13311
    • Pao, W.1    Miller, V.2    Zakowski, M.3
  • 7
    • 27344451557 scopus 로고    scopus 로고
    • Recurrent fusion of TMPRSS2 and ETS transcription factor genes in prostate cancer
    • Tomlins SA, Rhodes DR, Perner S et al. Recurrent fusion of TMPRSS2 and ETS transcription factor genes in prostate cancer. Science 310(5748), 644-648 (2005).
    • (2005) Science , vol.310 , Issue.5748 , pp. 644-648
    • Tomlins, S.A.1    Rhodes, D.R.2    Perner, S.3
  • 8
    • 34547638047 scopus 로고    scopus 로고
    • Identification of the transforming EML4-ALK fusion gene in non-small-cell lung cancer
    • Soda M, Choi YL, Enomoto M et al. Identification of the transforming EML4-ALK fusion gene in non-small-cell lung cancer. Nature 448(7153), 561-566 (2007).
    • (2007) Nature , vol.448 , Issue.7153 , pp. 561-566
    • Soda, M.1    Choi, Y.L.2    Enomoto, M.3
  • 9
    • 79959332080 scopus 로고    scopus 로고
    • The consequences of uniparental disomy and copy number neutral loss-of-heterozygosity during human development and cancer
    • Lapunzina P, Monk D. The consequences of uniparental disomy and copy number neutral loss-of-heterozygosity during human development and cancer. Biol. Cell 103(7), 303-317 (2011).
    • (2011) Biol. Cell , vol.103 , Issue.7 , pp. 303-317
    • Lapunzina, P.1    Monk, D.2
  • 10
    • 65249095599 scopus 로고    scopus 로고
    • The EML4-ALK fusion gene is involved in various histologic types of lung cancers from nonsmokers with wild-type EGFR and KRAS
    • University of Hong Kong Lung Cancer Study Group
    • Wong DW, Leung EL, So KK et al.; University of Hong Kong Lung Cancer Study Group. The EML4-ALK fusion gene is involved in various histologic types of lung cancers from nonsmokers with wild-type EGFR and KRAS. Cancer 115(8), 1723-1733 (2009).
    • (2009) Cancer , vol.115 , Issue.8 , pp. 1723-1733
    • Wong, D.W.1    Leung, E.L.2    So, K.K.3
  • 11
    • 0026495364 scopus 로고
    • Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors
    • Kallioniemi A, Kallioniemi OP, Sudar D et al. Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science 258(5083), 818-821 (1992).
    • (1992) Science , vol.258 , Issue.5083 , pp. 818-821
    • Kallioniemi, A.1    Kallioniemi, O.P.2    Sudar, D.3
  • 12
    • 0032231398 scopus 로고    scopus 로고
    • From amplification to gene in thyroid cancer: A high-resolution mapped bacterial-artificialchromosome resource for cancer chromosome aberrations guides gene discovery after comparative genome hybridization
    • Chen X, Knauf JA, Gonsky R et al. From amplification to gene in thyroid cancer: a high-resolution mapped bacterial-artificialchromosome resource for cancer chromosome aberrations guides gene discovery after comparative genome hybridization. Am. J. Hum. Genet. 63(2), 625-637 (1998).
    • (1998) Am. J. Hum. Genet. , vol.63 , Issue.2 , pp. 625-637
    • Chen, X.1    Knauf, J.A.2    Gonsky, R.3
  • 13
    • 17344371740 scopus 로고    scopus 로고
    • High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays
    • Pinkel D, Segraves R, Sudar D et al. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat. Genet. 20(2), 207-211 (1998).
    • (1998) Nat. Genet. , vol.20 , Issue.2 , pp. 207-211
    • Pinkel, D.1    Segraves, R.2    Sudar, D.3
  • 14
    • 34247234148 scopus 로고    scopus 로고
    • A new look towards BAC-based array CGH through a comprehensive comparison with oligo-based array CGH
    • Wicker N, Carles A, Mills IG et al. A new look towards BAC-based array CGH through a comprehensive comparison with oligo-based array CGH. BMC Genomics 8
    • BMC Genomics , vol.8
    • Wicker, N.1    Carles, A.2    Mills, I.G.3
  • 15
    • 2642556276 scopus 로고    scopus 로고
    • High resolution microarray comparative genomic hybridisation analysis using spotted oligonucleotides
    • Carvalho B, Ouwerkerk E, Meijer GA, Ylstra B. High resolution microarray comparative genomic hybridisation analysis using spotted oligonucleotides. J. Clin. Pathol. 57(6), 644-646 (2004).
    • (2004) J. Clin. Pathol. , vol.57 , Issue.6 , pp. 644-646
    • Carvalho, B.1    Ouwerkerk, E.2    Meijer, G.A.3    Ylstra, B.4
  • 16
    • 83655201192 scopus 로고    scopus 로고
    • Characterising chromosome rearrangements: Recent technical advances in molecular cytogenetics
    • Le Scouarnec S, Gribble SM. Characterising chromosome rearrangements: recent technical advances in molecular cytogenetics. Heredity (Edinb.) 108(1), 75-85 (2012).
    • (2012) Heredity (Edinb.) , vol.108 , Issue.1 , pp. 75-85
    • Le Scouarnec, S.1    Gribble, S.M.2
  • 17
    • 68949213291 scopus 로고    scopus 로고
    • Application of array-based whole genome scanning technologies as a cytogenetic tool in haematological malignancies
    • Maciejewski JP, Tiu RV, O'Keefe C. Application of array-based whole genome scanning technologies as a cytogenetic tool in haematological malignancies. Br. J. Haematol. 146(5), 479-488 (2009).
    • (2009) Br. J. Haematol. , vol.146 , Issue.5 , pp. 479-488
    • Maciejewski, J.P.1    Tiu, R.V.2    O'Keefe, C.3
  • 18
    • 67949091187 scopus 로고    scopus 로고
    • Single nucleotide polymorphism arrays: A decade of biological, computational and technological advances
    • LaFramboise T. Single nucleotide polymorphism arrays: a decade of biological, computational and technological advances. Nucleic Acids Res. 37(13), 4181-4193 (2009).
    • (2009) Nucleic Acids Res. , vol.37 , Issue.13 , pp. 4181-4193
    • Laframboise, T.1
  • 19
    • 33748272115 scopus 로고    scopus 로고
    • High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping
    • Peiffer DA, Le JM, Steemers FJ et al. High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping. Genome Res. 16(9), 1136-1148 (2006).
    • (2006) Genome Res. , vol.16 , Issue.9 , pp. 1136-1148
    • Peiffer, D.A.1    Le Steemers, J.M.F.J.2
  • 20
    • 3543105225 scopus 로고    scopus 로고
    • Circular binary segmentation for the analysis of array-based DNA copy number data
    • Olshen AB, Venkatraman ES, Lucito R, Wigler M. Circular binary segmentation for the analysis of array-based DNA copy number data. Biostatistics 5(4), 557-572 (2004).
    • (2004) Biostatistics , vol.5 , Issue.4 , pp. 557-572
    • Olshen, A.B.1    Venkatraman, E.S.2    Lucito, R.3    Wigler, M.4
  • 21
    • 44349191457 scopus 로고    scopus 로고
    • Identification of somatically acquired rearrangements in cancer using genomewide massively parallel paired-end sequencing
    • Campbell PJ, Stephens PJ, Pleasance ED et al. Identification of somatically acquired rearrangements in cancer using genomewide massively parallel paired-end sequencing. Nat. Genet. 40(6), 722-729 (2008).
    • (2008) Nat. Genet. , vol.40 , Issue.6 , pp. 722-729
    • Campbell, P.J.1    Stephens, P.J.2    Pleasance, E.D.3
  • 22
    • 0035895505 scopus 로고    scopus 로고
    • The sequence of the human genome
    • Venter JC, Adams MD, Myers EW et al. The sequence of the human genome. Science 291(5507), 1304-1351 (2001).
    • (2001) Science , vol.291 , Issue.5507 , pp. 1304-1351
    • Venter, J.C.1    Adams, M.D.2    Myers, E.W.3
  • 23
    • 72849144434 scopus 로고    scopus 로고
    • Sequencing technologies -The next generation
    • Metzker ML. Sequencing technologies -the next generation. Nat. Rev. Genet. 11(1), 31-46 (2010).
    • (2010) Nat. Rev. Genet. , vol.11 , Issue.1 , pp. 31-46
    • Metzker, M.L.1
  • 24
    • 24044455869 scopus 로고    scopus 로고
    • Genome sequencing in microfabricated high-density picolitre reactors
    • Margulies M, Egholm M, Altman WE et al. Genome sequencing in microfabricated high-density picolitre reactors. Nature 437(7057), 376-380 (2005).
    • (2005) Nature , vol.437 , Issue.7057 , pp. 376-380
    • Margulies, M.1    Egholm, M.2    Altman, W.E.3
  • 25
    • 42249087308 scopus 로고    scopus 로고
    • The complete genome of an individual by massively parallel DNA sequencing
    • Wheeler DA, Srinivasan M, Egholm M et al. The complete genome of an individual by massively parallel DNA sequencing. Nature 452(7189), 872-876 (2008).
    • (2008) Nature , vol.452 , Issue.7189 , pp. 872-876
    • Wheeler, D.A.1    Srinivasan, M.2    Egholm, M.3
  • 26
    • 74449085934 scopus 로고    scopus 로고
    • A small-cell lung cancer genome with complex signatures of tobacco exposure
    • Pleasance ED, Stephens PJ, O'Meara S et al. A small-cell lung cancer genome with complex signatures of tobacco exposure. Nature 463(7278), 184-190 (2010).
    • (2010) Nature , vol.463 , Issue.7278 , pp. 184-190
    • Pleasance, E.D.1    Stephens, P.J.2    O'Meara, S.3
  • 27
    • 55549089660 scopus 로고    scopus 로고
    • Accurate whole human genome sequencing using reversible terminator chemistry
    • Bentley DR, Balasubramanian S, Swerdlow HP et al. Accurate whole human genome sequencing using reversible terminator chemistry. Nature 456(7218), 53-59 (2008).
    • (2008) Nature , vol.456 , Issue.7218 , pp. 53-59
    • Bentley, D.R.1    Balasubramanian, S.2    Swerdlow, H.P.3
  • 29
    • 84860756398 scopus 로고    scopus 로고
    • Performance comparison of benchtop high-throughput sequencing platforms
    • Loman NJ, Misra RV, Dallman TJ et al. Performance comparison of benchtop high-throughput sequencing platforms. Nat. Biotechnol. 30(5), 434-439 (2012).
    • (2012) Nat. Biotechnol. , vol.30 , Issue.5 , pp. 434-439
    • Loman, N.J.1    Misra, R.V.2    Dallman, T.J.3
  • 30
    • 78651393550 scopus 로고    scopus 로고
    • Carrier testing for severe childhood recessive diseases by next-generation sequencing
    • Bell CJ, Dinwiddie DL, Miller NA et al. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci. Transl. Med. 3(65), 65ra4 (2011).
    • (2011) Sci. Transl. Med. , vol.3 , Issue.65
    • Bell, C.J.1    Dinwiddie, D.L.2    Miller, N.A.3
  • 31
    • 0142178215 scopus 로고    scopus 로고
    • New York Breast Cancer Study Group. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2
    • King MC, Marks JH, Mandell JB; New York Breast Cancer Study Group. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 302(5645), 643-646 (2003).
    • (2003) Science , vol.302 , Issue.5645 , pp. 643-646
    • King, M.C.1    Marks, J.H.2    Mandell, J.B.3
  • 32
    • 84864026311 scopus 로고    scopus 로고
    • BRCA mutation frequency and patterns of treatment response in BRCA mutationpositive women with ovarian cancer: A report from the Australian Ovarian Cancer Study Group
    • Alsop K, Fereday S, Meldrum C et al. BRCA mutation frequency and patterns of treatment response in BRCA mutationpositive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group. J. Clin. Oncol. 30(21), 2654-2663 (2012).
    • (2012) J. Clin. Oncol. , vol.30 , Issue.21 , pp. 2654-2663
    • Alsop, K.1    Fereday, S.2    Meldrum, C.3
  • 33
    • 77955439715 scopus 로고    scopus 로고
    • Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing
    • Walsh T, Lee MK, Casadei S et al. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc. Natl Acad. Sci. USA 107(28), 12629-12633 (2010).
    • (2010) Proc. Natl Acad. Sci. USA , vol.107 , Issue.28 , pp. 12629-12633
    • Walsh, T.1    Lee, M.K.2    Casadei, S.3
  • 34
    • 23944468557 scopus 로고    scopus 로고
    • Comparison of genome profiles for identification of distinct subgroups of diffuse large B-cell lymphoma
    • Tagawa H, Suguro M, Tsuzuki S et al. Comparison of genome profiles for identification of distinct subgroups of diffuse large B-cell lymphoma. Blood 106(5), 1770-1777 (2005).
    • (2005) Blood , vol.106 , Issue.5 , pp. 1770-1777
    • Tagawa, H.1    Suguro, M.2    Tsuzuki, S.3
  • 35
    • 77956900238 scopus 로고    scopus 로고
    • Genomic profiles in B cell lymphoma
    • Seto M. Genomic profiles in B cell lymphoma. Int. J. Hematol. 92(2), 238-245 (2010).
    • (2010) Int. J. Hematol. , vol.92 , Issue.2 , pp. 238-245
    • Seto, M.1
  • 36
    • 58149214241 scopus 로고    scopus 로고
    • The potential of copy number gains and losses, detected by array-based comparative genomic hybridization, for computational differential diagnosis of B-cell lymphomas and genetic regions involved in lymphomagenesis
    • Takeuchi I, Tagawa H, Tsujikawa A et al. The potential of copy number gains and losses, detected by array-based comparative genomic hybridization, for computational differential diagnosis of B-cell lymphomas and genetic regions involved in lymphomagenesis. Haematologica 94(1), 61-69 (2009).
    • (2009) Haematologica , vol.94 , Issue.1 , pp. 61-69
    • Takeuchi, I.1    Tagawa, H.2    Tsujikawa, A.3
  • 37
    • 71049121398 scopus 로고    scopus 로고
    • Early detection of patients with poor risk diffuse large B-cell lymphoma
    • Sehn LH. Early detection of patients with poor risk diffuse large B-cell lymphoma. Leuk. Lymphoma 50(11), 1744-1747 (2009).
    • (2009) Leuk. Lymphoma , vol.50 , Issue.11 , pp. 1744-1747
    • Sehn, L.H.1
  • 38
    • 68549094533 scopus 로고    scopus 로고
    • Spanish Lymphoma/Autologous Bone Marrow Transplant Study Group (GEL-TAMO) Array comparative genomic hybridization identifies genetic regions associated with outcome in aggressive diffuse large B-cell lymphomas
    • Robledo C, García JL, Caballero D et al.; Spanish Lymphoma/Autologous Bone Marrow Transplant Study Group (GEL-TAMO). Array comparative genomic hybridization identifies genetic regions associated with outcome in aggressive diffuse large B-cell lymphomas. Cancer 115(16), 3728-3737 (2009).
    • (2009) Cancer , vol.115 , Issue.16 , pp. 3728-3737
    • Robledo, C.1    García, J.L.2    Caballero, D.3
  • 39
    • 79960662893 scopus 로고    scopus 로고
    • High resolution array comparative genomic hybridization identifies copy number alterations in diffuse large B-cell lymphoma that predict response to immuno-chemotherapy
    • Kreisel F, Kulkarni S, Kerns RT et al. High resolution array comparative genomic hybridization identifies copy number alterations in diffuse large B-cell lymphoma that predict response to immuno-chemotherapy. Cancer Genet. 204(3), 129-137 (2011).
    • (2011) Cancer Genet. , vol.204 , Issue.3 , pp. 129-137
    • Kreisel, F.1    Kulkarni, S.2    Kerns, R.T.3
  • 40
    • 77954752069 scopus 로고    scopus 로고
    • Rearrangement of MYC is associated with poor prognosis in patients with diffuse large B-cell lymphoma treated in the era of rituximab
    • Barrans S, Crouch S, Smith A et al. Rearrangement of MYC is associated with poor prognosis in patients with diffuse large B-cell lymphoma treated in the era of rituximab. J. Clin. Oncol. 28(20), 3360-3365 (2010).
    • (2010) J. Clin. Oncol. , vol.28 , Issue.20 , pp. 3360-3365
    • Barrans, S.1    Crouch, S.2    Smith, A.3
  • 41
    • 77649106752 scopus 로고    scopus 로고
    • Array-based karyotyping for prognostic assessment in chronic lymphocytic leukemia: Performance comparison of Affymetrix 10K2.0, 250K Nsp, and SNP6.0 arrays
    • Hagenkord JM, Monzon FA, Kash SF, Lilleberg S, Xie Q, Kant JA. Array-based karyotyping for prognostic assessment in chronic lymphocytic leukemia: performance comparison of Affymetrix 10K2.0, 250K Nsp, and SNP6.0 arrays. J. Mol. Diagn. 12(2), 184-196 (2010).
    • (2010) J. Mol. Diagn. , vol.12 , Issue.2 , pp. 184-196
    • Hagenkord, J.M.1    Monzon, F.A.2    Kash, S.F.3    Lilleberg, S.4    Xie, Q.5    Kant, J.A.6
  • 42
    • 33847195418 scopus 로고    scopus 로고
    • Oligonucleotide array-CGH reveals cryptic gene copy number alterations in karyotypically normal acute myeloid leukemia
    • Tyybäkinoja A, Elonen E, Piippo K, Porkka K, Knuutila S. Oligonucleotide array-CGH reveals cryptic gene copy number alterations in karyotypically normal acute myeloid leukemia. Leukemia 21(3), 571-574 (2007).
    • (2007) Leukemia , vol.21 , Issue.3 , pp. 571-574
    • Tyybäkinoja, A.1    Elonen, E.2    Piippo, K.3    Porkka, K.4    Knuutila, S.5
  • 43
    • 33846389406 scopus 로고    scopus 로고
    • High-resolution genomic arrays facilitate detection of novel cryptic chromosomal lesions in myelodysplastic syndromes
    • O'Keefe CL, Tiu R, Gondek LP et al. High-resolution genomic arrays facilitate detection of novel cryptic chromosomal lesions in myelodysplastic syndromes. Exp. Hematol. 35(2), 240-251 (2007).
    • (2007) Exp. Hematol. , vol.35 , Issue.2 , pp. 240-251
    • O'Keefe, C.L.1    Tiu, R.2    Gondek, L.P.3
  • 44
    • 54049105351 scopus 로고    scopus 로고
    • High-resolution whole genome tiling path array CGH analysis of CD34+ cells from patients with low-risk myelodysplastic syndromes reveals cryptic copy number alterations and predicts overall and leukemia-free survival
    • Starczynowski DT, Vercauteren S, Telenius A et al. High-resolution whole genome tiling path array CGH analysis of CD34+ cells from patients with low-risk myelodysplastic syndromes reveals cryptic copy number alterations and predicts overall and leukemia-free survival. Blood 112(8), 3412-3424 (2008).
    • (2008) Blood , vol.112 , Issue.8 , pp. 3412-3424
    • Starczynowski, D.T.1    Vercauteren, S.2    Telenius, A.3
  • 45
    • 70449715477 scopus 로고    scopus 로고
    • New lesions detected by single nucleotide polymorphism array-based chromosomal analysis have important clinical impact in acute myeloid leukemia
    • Tiu RV, Gondek LP, O'Keefe CL et al. New lesions detected by single nucleotide polymorphism array-based chromosomal analysis have important clinical impact in acute myeloid leukemia. J. Clin. Oncol. 27(31), 5219-5226 (2009).
    • (2009) J. Clin. Oncol. , vol.27 , Issue.31 , pp. 5219-5226
    • Tiu, R.V.1    Gondek, L.P.2    O'Keefe, C.L.3
  • 46
    • 38949123096 scopus 로고    scopus 로고
    • Chromosomal lesions and uniparental disomy detected by SNP arrays in MDS MDS/ MPD, and MDS-derived AML
    • Gondek LP, Tiu R, O'Keefe CL, Sekeres MA, Theil KS, Maciejewski JP. Chromosomal lesions and uniparental disomy detected by SNP arrays in MDS, MDS/ MPD, and MDS-derived AML. Blood 111(3), 1534-1542 (2008).
    • (2008) Blood , vol.111 , Issue.3 , pp. 1534-1542
    • Gondek, L.P.1    Tiu, R.2    O'Keefe, C.L.3    Sekeres, M.A.4    Theil, K.S.5    Maciejewski, J.P.6
  • 47
    • 79955945973 scopus 로고    scopus 로고
    • Prognostic impact of SNP array karyotyping in myelodysplastic syndromes and related myeloid malignancies
    • Tiu RV, Gondek LP, O'Keefe CL et al. Prognostic impact of SNP array karyotyping in myelodysplastic syndromes and related myeloid malignancies. Blood 117(17), 4552-4560 (2011).
    • (2011) Blood , vol.117 , Issue.17 , pp. 4552-4560
    • Tiu, R.V.1    Gondek, L.P.2    O'Keefe, C.L.3
  • 48
    • 76749133549 scopus 로고    scopus 로고
    • FISH and SNP-A karyotyping in myelodysplastic syndromes: Improving cytogenetic detection of del(5q), monosomy 7, del(7q), trisomy 8 and del(20q)
    • Makishima H, Rataul M, Gondek LP et al. FISH and SNP-A karyotyping in myelodysplastic syndromes: improving cytogenetic detection of del(5q), monosomy 7, del(7q), trisomy 8 and del(20q). Leuk. Res. 34(4), 447-453 (2010).
    • (2010) Leuk. Res. , vol.34 , Issue.4 , pp. 447-453
    • Makishima, H.1    Rataul, M.2    Gondek, L.P.3
  • 49
    • 79955038968 scopus 로고    scopus 로고
    • Use of whole-genome sequencing to diagnose a cryptic fusion oncogene
    • Welch JS, Westervelt P, Ding L et al. Use of whole-genome sequencing to diagnose a cryptic fusion oncogene. JAMA 305(15), 1577-1584 (2011).
    • (2011) JAMA , vol.305 , Issue.15 , pp. 1577-1584
    • Welch, J.S.1    Westervelt, P.2    Ding, L.3
  • 50
    • 82555187093 scopus 로고    scopus 로고
    • Carcinomas of an unknown primary origin -diagnosis and treatment
    • Massard C, Loriot Y, Fizazi K. Carcinomas of an unknown primary origin -diagnosis and treatment. Nat. Rev. Clin. Oncol. 8(12), 701-710 (2011).
    • (2011) Nat. Rev. Clin. Oncol. , vol.8 , Issue.12 , pp. 701-710
    • Massard, C.1    Loriot, Y.2    Fizazi, K.3
  • 51
    • 52449111109 scopus 로고    scopus 로고
    • Selective inhibition of BRCA2-deficient mammary tumor cell growth by AZD2281 and cisplatin
    • Evers B, Drost R, Schut E et al. Selective inhibition of BRCA2-deficient mammary tumor cell growth by AZD2281 and cisplatin. Clin. Cancer Res. 14(12), 3916-3925 (2008).
    • (2008) Clin. Cancer Res. , vol.14 , Issue.12 , pp. 3916-3925
    • Evers, B.1    Drost, R.2    Schut, E.3
  • 52
    • 80053386829 scopus 로고    scopus 로고
    • Effect of crizotinib on overall survival in patients with advanced non-small-cell lung cancer harbouring ALK gene rearrangement: A retrospective analysis
    • Shaw AT, Yeap BY, Solomon BJ et al. Effect of crizotinib on overall survival in patients with advanced non-small-cell lung cancer harbouring ALK gene rearrangement: a retrospective analysis. Lancet Oncol. 12(11), 1004-1012 (2011).
    • (2011) Lancet Oncol. , vol.12 , Issue.11 , pp. 1004-1012
    • Shaw, A.T.1    Yeap, B.Y.2    Solomon, B.J.3
  • 53
    • 33646228635 scopus 로고    scopus 로고
    • KRAS mutation status is predictive of response to cetuximab therapy in colorectal cancer
    • Lièvre A, Bachet JB, Le Corre D et al. KRAS mutation status is predictive of response to cetuximab therapy in colorectal cancer. Cancer Res. 66(8), 3992-3995 (2006).
    • (2006) Cancer Res. , vol.66 , Issue.8 , pp. 3992-3995
    • Lièvre, A.1    Bachet, J.B.2    Le Corre, D.3
  • 54
    • 84857927333 scopus 로고    scopus 로고
    • KRAS mutational test for metastatic colorectal cancer patients: Not just a technical problem
    • Molinari F, Frattini M. KRAS mutational test for metastatic colorectal cancer patients: not just a technical problem. Expert Rev. Mol. Diagn. 12(2), 123-126 (2012).
    • (2012) Expert Rev. Mol. Diagn. , vol.12 , Issue.2 , pp. 123-126
    • Molinari, F.1    Frattini, M.2
  • 55
    • 77958185649 scopus 로고    scopus 로고
    • Consensus for EGFR mutation testing in non-small cell lung cancer: Results from a European workshop
    • European EGFR Workshop Group
    • Pirker R, Herth FJ, Kerr KM et al.; European EGFR Workshop Group. Consensus for EGFR mutation testing in non-small cell lung cancer: results from a European workshop. J. Thorac. Oncol. 5(10), 1706-1713 (2010).
    • (2010) J. Thorac. Oncol. , vol.5 , Issue.10 , pp. 1706-1713
    • Pirker, R.1    Herth, F.J.2    Kerr, K.M.3
  • 56
    • 84862776857 scopus 로고    scopus 로고
    • Identification of new ALK and RET gene fusions from colorectal and lung cancer biopsies
    • Lipson D, Capelletti M, Yelensky R et al. Identification of new ALK and RET gene fusions from colorectal and lung cancer biopsies. Nat. Med. 18(3), 382-384 (2012).
    • (2012) Nat. Med. , vol.18 , Issue.3 , pp. 382-384
    • Lipson, D.1    Capelletti, M.2    Yelensky, R.3
  • 57
    • 77249119762 scopus 로고    scopus 로고
    • The landscape of somatic copy-number alteration across human cancers
    • Beroukhim R, Mermel CH, Porter D et al. The landscape of somatic copy-number alteration across human cancers. Nature 463(7283), 899-905 (2010).
    • (2010) Nature , vol.463 , Issue.7283 , pp. 899-905
    • Beroukhim, R.1    Mermel, C.H.2    Porter, D.3
  • 58
    • 82355191818 scopus 로고    scopus 로고
    • Implementing multiplexed genotyping of non-small-cell lung cancers into routine clinical practice
    • Sequist LV, Heist RS, Shaw AT et al. Implementing multiplexed genotyping of non-small-cell lung cancers into routine clinical practice. Ann. Oncol. 22(12), 2616-2624 (2011).
    • (2011) Ann. Oncol. , vol.22 , Issue.12 , pp. 2616-2624
    • Sequist, L.V.1    Heist, R.S.2    Shaw, A.T.3
  • 59
    • 18444374405 scopus 로고    scopus 로고
    • Mutations of the BRAF gene in human cancer
    • Davies H, Bignell GR, Cox C et al. Mutations of the BRAF gene in human cancer. Nature 417(6892), 949-954 (2002).
    • (2002) Nature , vol.417 , Issue.6892 , pp. 949-954
    • Davies, H.1    Bignell, G.R.2    Cox, C.3
  • 60
    • 84863116743 scopus 로고    scopus 로고
    • Survival in BRAF V600-mutant advanced melanoma treated with vemurafenib
    • Sosman JA, Kim KB, Schuchter L et al. Survival in BRAF V600-mutant advanced melanoma treated with vemurafenib. N. Engl. J. Med. 366(8), 707-714 (2012).
    • (2012) N. Engl. J. Med. , vol.366 , Issue.8 , pp. 707-714
    • Sosman, J.A.1    Kim, K.B.2    Schuchter, L.3
  • 61
    • 79959560621 scopus 로고    scopus 로고
    • Acquired and intrinsic BRAF inhibitor resistance in BRAF V600E mutant melanoma
    • Fedorenko IV, Paraiso KH, Smalley KS. Acquired and intrinsic BRAF inhibitor resistance in BRAF V600E mutant melanoma. Biochem. Pharmacol. 82(3), 201-209 (2011).
    • (2011) Biochem. Pharmacol. , vol.82 , Issue.3 , pp. 201-209
    • Fedorenko, I.V.1    Paraiso, K.H.2    Smalley, K.S.3
  • 62
    • 78650303507 scopus 로고    scopus 로고
    • Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation
    • Nazarian R, Shi H, Wang Q et al. Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation. Nature 468(7326), 973-977 (2010).
    • (2010) Nature , vol.468 , Issue.7326 , pp. 973-977
    • Nazarian, R.1    Shi, H.2    Wang, Q.3
  • 63
    • 80051625929 scopus 로고    scopus 로고
    • Dissecting therapeutic resistance to RAF inhibition in melanoma by tumor genomic profiling
    • Wagle N, Emery C, Berger MF et al. Dissecting therapeutic resistance to RAF inhibition in melanoma by tumor genomic profiling. J. Clin. Oncol. 29(22), 3085-3096 (2011).
    • (2011) J. Clin. Oncol. , vol.29 , Issue.22 , pp. 3085-3096
    • Wagle, N.1    Emery, C.2    Berger, M.F.3
  • 65
    • 84855321526 scopus 로고    scopus 로고
    • Independent validation of genes and polymorphisms reported to be associated with radiation toxicity: A prospective analysis study
    • Barnett GC, Coles CE, Elliott RM et al. Independent validation of genes and polymorphisms reported to be associated with radiation toxicity: a prospective analysis study. Lancet Oncol. 13(1), 65-77 (2012).
    • (2012) Lancet Oncol. , vol.13 , Issue.1 , pp. 65-77
    • Barnett, G.C.1    Coles, C.E.2    Elliott, R.M.3
  • 66
    • 82655184653 scopus 로고    scopus 로고
    • Personalized oncology through integrative high-throughput sequencing: A pilot study
    • Roychowdhury S, Iyer MK, Robinson DR et al. Personalized oncology through integrative high-throughput sequencing: a pilot study. Sci. Transl. Med. 3(111), 111ra121 (2011).
    • (2011) Sci. Transl. Med. , vol.3 , Issue.111
    • Roychowdhury, S.1    Iyer, M.K.2    Robinson, D.R.3
  • 67
    • 77952962769 scopus 로고    scopus 로고
    • Development of personalized tumor biomarkers using massively parallel sequencing
    • Leary RJ, Kinde I, Diehl F et al. Development of personalized tumor biomarkers using massively parallel sequencing. Sci. Transl. Med. 2(20), 20ra14 (2010).
    • (2010) Sci. Transl. Med. , vol.2 , Issue.20
    • Leary, R.J.1    Kinde, I.2    Diehl, F.3
  • 68
    • 77649121644 scopus 로고    scopus 로고
    • Genomewide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: A multicenter experience of 1499 clinical cases
    • Xiang B, Zhu H, Shen Y et al. Genomewide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases. J. Mol. Diagn. 12(2), 204-212 (2010).
    • (2010) J. Mol. Diagn. , vol.12 , Issue.2 , pp. 204-212
    • Xiang, B.1    Zhu, H.2    Shen, Y.3
  • 70
    • 33751551424 scopus 로고    scopus 로고
    • Medical applications of array CGH and the transformation of clinical cytogenetics
    • Shaffer LG, Bejjani BA. Medical applications of array CGH and the transformation of clinical cytogenetics. Cytogenet. Genome Res. 115(3-4), 303-309 (2006).
    • (2006) Cytogenet. Genome Res. , vol.115 , Issue.3-4 , pp. 303-309
    • Shaffer, L.G.1    Bejjani, B.A.2
  • 72
    • 79960812993 scopus 로고    scopus 로고
    • American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
    • Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee
    • Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet. Med. 13(7), 680-685 (2011).
    • (2011) Genet. Med. , vol.13 , Issue.7 , pp. 680-685
    • Kearney, H.M.1    Thorland, E.C.2    Brown, K.K.3    Quintero-Rivera, F.4    South, S.T.5
  • 73
    • 84856797441 scopus 로고    scopus 로고
    • CGH arrays compared for DNA isolated from formalin-fixed, paraffin-embedded material
    • Krijgsman O, Israeli D, Haan JC et al. CGH arrays compared for DNA isolated from formalin-fixed, paraffin-embedded material. Genes. Chromosomes Cancer 51(4), 344-352 (2012).
    • (2012) Genes. Chromosomes Cancer , vol.51 , Issue.4 , pp. 344-352
    • Krijgsman, O.1    Israeli, D.2    Haan, J.C.3
  • 74
    • 79958162661 scopus 로고    scopus 로고
    • Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants
    • Pinto D, Darvishi K, Shi X et al. Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants. Nat. Biotechnol. 29(6), 512-520 (2011).
    • (2011) Nat. Biotechnol. , vol.29 , Issue.6 , pp. 512-520
    • Pinto, D.1    Darvishi, K.2    Shi, X.3
  • 75
    • 73449095762 scopus 로고    scopus 로고
    • The pitfalls of platform comparison: DNA copy number array technologies assessed
    • Curtis C, Lynch AG, Dunning MJ et al. The pitfalls of platform comparison: DNA copy number array technologies assessed. BMC Genomics 10, 588 (2009).
    • (2009) BMC Genomics , vol.10 , pp. 588
    • Curtis, C.1    Lynch, A.G.2    Dunning, M.J.3
  • 76
    • 80053508491 scopus 로고    scopus 로고
    • Whole cancer genome sequencing by next-generation methods
    • Ross JS, Cronin M. Whole cancer genome sequencing by next-generation methods. Am. J. Clin. Pathol. 136(4), 527-539 (2011).
    • (2011) Am. J. Clin. Pathol. , vol.136 , Issue.4 , pp. 527-539
    • Ross, J.S.1    Cronin, M.2
  • 77
    • 77953565946 scopus 로고    scopus 로고
    • Whole exome capture in solution with Gbp of data
    • Bainbridge MN, Wang M, Burgess DL et al. Whole exome capture in solution with Gbp of data. Genome Biol. 11(6), R62 (2010).
    • (2010) Genome Biol. , vol.11 , Issue.6
    • Bainbridge, M.N.1    Wang, M.2    Burgess, D.L.3
  • 78
    • 35748951614 scopus 로고    scopus 로고
    • Direct selection of human genomic loci by microarray hybridization
    • Albert TJ, Molla MN, Muzny DM et al. Direct selection of human genomic loci by microarray hybridization. Nat. Methods 4(11), 903-905 (2007).
    • (2007) Nat. Methods , vol.4 , Issue.11 , pp. 903-905
    • Albert, T.J.1    Molla, M.N.2    Muzny, D.M.3
  • 79
    • 77449121614 scopus 로고    scopus 로고
    • Target-enrichment strategies for nextgeneration sequencing
    • Mamanova L, Coffey AJ, Scott CE et al. Target-enrichment strategies for nextgeneration sequencing. Nat. Methods 7(2), 111-118 (2010).
    • (2010) Nat. Methods , vol.7 , Issue.2 , pp. 111-118
    • Mamanova, L.1    Coffey, A.J.2    Scott, C.E.3
  • 80
    • 77955059918 scopus 로고    scopus 로고
    • Genetic diagnosis of familial breast cancer using clonal sequencing
    • Morgan JE, Carr IM, Sheridan E et al. Genetic diagnosis of familial breast cancer using clonal sequencing. Hum. Mutat. 31(4), 484-491 (2010).
    • (2010) Hum. Mutat. , vol.31 , Issue.4 , pp. 484-491
    • Morgan, J.E.1    Carr, I.M.2    Sheridan, E.3
  • 81
    • 84861746437 scopus 로고    scopus 로고
    • Noninvasive identification and monitoring of cancer mutations by targeted deep sequencing of plasma DNA
    • Forshew T, Murtaza M, Parkinson C et al. Noninvasive identification and monitoring of cancer mutations by targeted deep sequencing of plasma DNA. Sci. Transl. Med. 4(136), 136ra68 (2012).
    • (2012) Sci. Transl. Med. , vol.4 , Issue.136 , pp. 136-168
    • Forshew, T.1    Murtaza, M.2    Parkinson, C.3
  • 82
    • 57549098807 scopus 로고    scopus 로고
    • The Catalogue of Somatic Mutations in Cancer (COSMIC)
    • Unit 10.11
    • Forbes SA, Bhamra G, Bamford S et al. The Catalogue of Somatic Mutations in Cancer (COSMIC). Curr. Protoc. Hum. Genet. 10, Unit 10.11 (2008).
    • (2008) Curr. Protoc. Hum. Genet. , vol.10
    • Forbes, S.A.1    Bhamra, G.2    Bamford, S.3
  • 83
    • 77951620282 scopus 로고    scopus 로고
    • Frequent genetic differences between matched primary and metastatic breast cancer provide an approach to identification of biomarkers for disease progression
    • Poplawski AB, Jankowski M, Erickson SW et al. Frequent genetic differences between matched primary and metastatic breast cancer provide an approach to identification of biomarkers for disease progression. Eur. J. Hum. Genet. 18(5), 560-568 (2010).
    • (2010) Eur. J. Hum. Genet. , vol.18 , Issue.5 , pp. 560-568
    • Poplawski, A.B.1    Jankowski, M.2    Erickson, S.W.3
  • 84
    • 84860214990 scopus 로고    scopus 로고
    • Intra-tumour heterogeneity: A looking glass for cancer?
    • Marusyk A, Almendro V, Polyak K. Intra-tumour heterogeneity: a looking glass for cancer? Nat. Rev. Cancer 12(5), 323-334 (2012).
    • (2012) Nat Rev. Cancer , vol.12 , Issue.5 , pp. 323-334
    • Marusyk, A.1    Almendro, V.2    Polyak, K.3
  • 86
    • 84855799546 scopus 로고    scopus 로고
    • Integrated DNA copy number and methylation profiling of lymphoid neoplasms using a single array
    • Kwee I, Rinaldi A, Rancoita P et al. Integrated DNA copy number and methylation profiling of lymphoid neoplasms using a single array. Br. J. Haematol. 156(3), 354-357 (2012).
    • (2012) Br. J. Haematol. , vol.156 , Issue.3 , pp. 354-357
    • Kwee, I.1    Rinaldi, A.2    Rancoita, P.3
  • 88
    • 84872515273 scopus 로고    scopus 로고
    • Whole-genome sequencing for analysis of an outbreak of methicillin-resistant Staphylococcus aureus: A descriptive study
    • Harris SR, Cartwright EJ, Török ME et al. Whole-genome sequencing for analysis of an outbreak of methicillin-resistant Staphylococcus aureus: a descriptive study. Lancet Infect. Dis. 13(2), 130-136 (2013).
    • (2013) Lancet Infect. Dis. , vol.13 , Issue.2 , pp. 130-136
    • Harris, S.R.1    Cartwright, E.J.2    Török, M.E.3
  • 89
    • 84860570409 scopus 로고    scopus 로고
    • Next-generation sequencing: Ready for the clinics?
    • Desai AN, Jere A. Next-generation sequencing: ready for the clinics? Clin. Genet. 81(6), 503-510 (2012).
    • (2012) Clin Genet. , vol.81 , Issue.6 , pp. 503-510
    • Desai, A.N.1    Jere, A.2
  • 90
    • 84865275654 scopus 로고    scopus 로고
    • The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe
    • Hastings R, de Wert G, Fowler B et al. The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe. Eur. J. Hum. Genet. 20(9), 911-916 (2012).
    • (2012) Eur. J. Hum. Genet. , vol.20 , Issue.9 , pp. 911-916
    • Hastings, R.1    De Wert, G.2    Fowler, B.3
  • 91
    • 79959785774 scopus 로고    scopus 로고
    • Privacy and data management in the era of massively parallel next-generation sequencing
    • Ong FS, Grody WW, Deignan JL. Privacy and data management in the era of massively parallel next-generation sequencing. Expert Rev. Mol. Diagn. 11(5), 457-459 (2011).
    • (2011) Expert Rev. Mol. Diagn. , vol.11 , Issue.5 , pp. 457-459
    • Ong, F.S.1    Grody, W.W.2    Deignan, J.L.3
  • 93
    • 84874848756 scopus 로고    scopus 로고
    • BRACAnalysis® Technical Specifications. Myriad Genetic Laboratories, Updated April
    • BRACAnalysis® Technical Specifications. Myriad Genetic Laboratories, Updated April 2012. www.myriad.com/lib/technical-specifications/ BRACAnalysis-Technical-Specifications. pdf
    • (2012)
  • 95
    • 84874909196 scopus 로고    scopus 로고
    • CoreGenomics. http://core-genomics.blogspot.co. uk/2011/09/next- generation-sequencingacronyms.html
    • CoreGenomics.
  • 96
    • 84874893270 scopus 로고    scopus 로고
    • Illumina. TrueSight™ Cancer
    • Illumina. TrueSight™ Cancer. www.illumina.com/Documents/products/ datasheets/datasheet-TruSight-Cancer.pdf
  • 97
    • 84874830896 scopus 로고    scopus 로고
    • Wellcome Trust. Sanger Institute
    • Wellcome Trust. Sanger Institute. www.sanger.ac.uk/genetics/CGP/cosmic
  • 98
    • 84872050996 scopus 로고    scopus 로고
    • NIH. National Human Genome Research Institute
    • NIH. National Human Genome Research Institute. DNA Sequencing Costs. www.genome.gov/sequencingcosts
    • DNA Sequencing Costs


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.