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Volumn 16, Issue 1, 2015, Pages

Whole exome sequencing (WES) on formalin-fixed, paraffin-embedded (FFPE) tumor tissue in gastrointestinal stromal tumors (GIST)

Author keywords

Formalin fixed, paraffin embedded (FFPE); Fresh frozen tissue; Gastrointestinal stromal tumors (GIST); Next generation sequencing (NGS)

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; BIOINFORMATICS; COMPARATIVE STUDY; CONTROLLED STUDY; DNA EXTRACTION; DNA LIBRARY; EXOME; FALSE NEGATIVE RESULT; FALSE POSITIVE RESULT; FEASIBILITY STUDY; FORMALIN FIXED PARAFFIN EMBEDDED TUMOR TISSUE; GASTROINTESTINAL STROMAL TUMOR; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HETEROZYGOSITY LOSS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; QUALITY CONTROL; RANDOM AMPLIFIED POLYMORPHIC DNA; SINGLE NUCLEOTIDE POLYMORPHISM; SOMATIC MUTATION; WHOLE EXOME SEQUENCING; CHEMISTRY; GENE EXPRESSION PROFILING; GENETICS; HIGH THROUGHPUT SEQUENCING; MUTATION; PATHOLOGY; TISSUE FIXATION;

EID: 84946550295     PISSN: None     EISSN: 14712164     Source Type: Journal    
DOI: 10.1186/s12864-015-1982-6     Document Type: Article
Times cited : (47)

References (27)
  • 1
    • 79951475133 scopus 로고    scopus 로고
    • A decade's perspective on DNA sequencing technology
    • Mardis ER. A decade's perspective on DNA sequencing technology. Nature. 2011;470:198-203.
    • (2011) Nature , vol.470 , pp. 198-203
    • Mardis, E.R.1
  • 2
    • 53649106195 scopus 로고    scopus 로고
    • Next-generation DNA sequencing
    • Shendure J, Ji H. Next-generation DNA sequencing. Nat Biotechnol. 2008;26:1135-45.
    • (2008) Nat Biotechnol , vol.26 , pp. 1135-1145
    • Shendure, J.1    Ji, H.2
  • 3
    • 44349191457 scopus 로고    scopus 로고
    • Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing
    • Campbell PJ, Stephens PJ, Pleasance ED, O'Meara S, Li H, Santarius T, et al. Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing. Nat Genet. 2008;40:722-9.
    • (2008) Nat Genet. , vol.40 , pp. 722-729
    • Campbell, P.J.1    Stephens, P.J.2    Pleasance, E.D.3    O'Meara, S.4    Li, H.5    Santarius, T.6
  • 6
    • 84874519595 scopus 로고    scopus 로고
    • Targeted, high-depth, next-generation sequencing of cancer genes in formalin-fixed, paraffin-embedded and fine-needle aspiration tumor specimens
    • Hadd AG, Houghton J, Choudhary A, Sah S, Chen L, Marko AC, et al. Targeted, high-depth, next-generation sequencing of cancer genes in formalin-fixed, paraffin-embedded and fine-needle aspiration tumor specimens. J Mol Diagn. 2013;15:234-47.
    • (2013) J Mol Diagn. , vol.15 , pp. 234-247
    • Hadd, A.G.1    Houghton, J.2    Choudhary, A.3    Sah, S.4    Chen, L.5    Marko, A.C.6
  • 7
    • 84898464134 scopus 로고    scopus 로고
    • Profiling cancer gene mutations in clinical formalin-fixed, paraffin-embedded colorectal tumor specimens using targeted next-generation sequencing
    • Zhang L, Chen L, Sah S, Latham GJ, Patel R, Song Q, et al. Profiling cancer gene mutations in clinical formalin-fixed, paraffin-embedded colorectal tumor specimens using targeted next-generation sequencing. Oncologist. 2014;19:336-43.
    • (2014) Oncologist. , vol.19 , pp. 336-343
    • Zhang, L.1    Chen, L.2    Sah, S.3    Latham, G.J.4    Patel, R.5    Song, Q.6
  • 8
    • 84882261506 scopus 로고    scopus 로고
    • Comparison of clinical targeted next-generation sequence data from formalin-fixed and fresh-frozen tissue specimens
    • Spencer DH, Sehn JK, Abel HJ, Watson MA, Pfeifer JD, Duncavage EJ. Comparison of clinical targeted next-generation sequence data from formalin-fixed and fresh-frozen tissue specimens. J Mol Diagn. 2013;15:623-33.
    • (2013) J Mol Diagn. , vol.15 , pp. 623-633
    • Spencer, D.H.1    Sehn, J.K.2    Abel, H.J.3    Watson, M.A.4    Pfeifer, J.D.5    Duncavage, E.J.6
  • 9
    • 84901604272 scopus 로고    scopus 로고
    • Sequence artefacts in a prospective series of formalin-fixed tumours tested for mutations in hotspot regions by massively parallel sequencing
    • Wong SQ, Li J, Tan AY, Vedururu R, Pang JM, Do H, et al. Sequence artefacts in a prospective series of formalin-fixed tumours tested for mutations in hotspot regions by massively parallel sequencing. BMC Med Genomics. 2014;7:23.
    • (2014) BMC Med Genomics , vol.7 , pp. 23
    • Wong, S.Q.1    Li, J.2    Tan, A.Y.3    Vedururu, R.4    Pang, J.M.5    Do, H.6
  • 10
    • 84887491073 scopus 로고    scopus 로고
    • Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing
    • Frampton GM, Fichtenholtz A, Otto GA, Wang K, Downing SR, He J, et al. Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing. Nat Biotechnol. 2013;31:1023-31.
    • (2013) Nat Biotechnol , vol.31 , pp. 1023-1031
    • Frampton, G.M.1    Fichtenholtz, A.2    Otto, G.A.3    Wang, K.4    Downing, S.R.5    He, J.6
  • 11
    • 80053173227 scopus 로고    scopus 로고
    • Targeted high throughput sequencing in clinical cancer settings: formaldehyde fixed-paraffin embedded (FFPE) tumor tissues, input amount and tumor heterogeneity
    • Kerick M, Isau M, Timmermann B, Sültmann H, Herwig R, Krobitsch S, et al. Targeted high throughput sequencing in clinical cancer settings: formaldehyde fixed-paraffin embedded (FFPE) tumor tissues, input amount and tumor heterogeneity. BMC Med Genomics. 2011;4:68.
    • (2011) BMC Med Genomics , vol.4 , pp. 68
    • Kerick, M.1    Isau, M.2    Timmermann, B.3    Sültmann, H.4    Herwig, R.5    Krobitsch, S.6
  • 12
    • 84864917026 scopus 로고    scopus 로고
    • Identification of high-confidence somatic mutations in whole genome sequence of formalin-fixed breast cancer specimens
    • Yost SE, Smith EN, Schwab RB, Bao L, Jung H, Wang X, et al. Identification of high-confidence somatic mutations in whole genome sequence of formalin-fixed breast cancer specimens. Nucleic Acids Res. 2012;40:e107.
    • (2012) Nucleic Acids Res , vol.40 , pp. e107
    • Yost, S.E.1    Smith, E.N.2    Schwab, R.B.3    Bao, L.4    Jung, H.5    Wang, X.6
  • 13
    • 84924328760 scopus 로고    scopus 로고
    • Whole-Transcriptome profiling of formalin-fixed, paraffin-embedded renal cell carcinoma by RNA-seq
    • Li P, Conley A, Zhang H, Kim HL. Whole-Transcriptome profiling of formalin-fixed, paraffin-embedded renal cell carcinoma by RNA-seq. BMC Genomics. 2014;15:1087.
    • (2014) BMC Genomics , vol.15 , pp. 1087
    • Li, P.1    Conley, A.2    Zhang, H.3    Kim, H.L.4
  • 14
    • 84890615358 scopus 로고    scopus 로고
    • Targeted-capture massively-parallel sequencing enables robust detection of clinically informative mutations from formalin-fixed tumours
    • Wong SQ, Li J, Salemi R, Sheppard KE, Do H, Tothill RW, et al. Targeted-capture massively-parallel sequencing enables robust detection of clinically informative mutations from formalin-fixed tumours. Sci Rep. 2013;3:3494.
    • (2013) Sci Rep. , vol.3 , pp. 3494
    • Wong, S.Q.1    Li, J.2    Salemi, R.3    Sheppard, K.E.4    Do, H.5    Tothill, R.W.6
  • 15
    • 84902313616 scopus 로고    scopus 로고
    • Next-generation sequencing of RNA and DNA isolated from paired fresh-frozen and formalin-fixed paraffin-embedded samples of human cancer and normal tissue
    • Hedegaard J, Thorsen K, Lund MK, Hein AM, Hamilton-Dutoit SJ, Vang S, et al. Next-generation sequencing of RNA and DNA isolated from paired fresh-frozen and formalin-fixed paraffin-embedded samples of human cancer and normal tissue. PLoS One. 2014;9:e98187.
    • (2014) PLoS One , vol.9 , pp. e98187
    • Hedegaard, J.1    Thorsen, K.2    Lund, M.K.3    Hein, A.M.4    Hamilton-Dutoit, S.J.5    Vang, S.6
  • 16
    • 84902148239 scopus 로고    scopus 로고
    • Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine
    • Van Allen EM, Wagle N, Stojanov P, Perrin DL, Cibulskis K, Marlow S, et al. Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine. Nat Med. 2014;20:682-8.
    • (2014) Nat Med. , vol.20 , pp. 682-688
    • Allen, E.M.1    Wagle, N.2    Stojanov, P.3    Perrin, D.L.4    Cibulskis, K.5    Marlow, S.6
  • 18
  • 20
    • 0642368571 scopus 로고    scopus 로고
    • Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor
    • Heinrich MC, Corless CL, Demetri GD, Blanke CD, von Mehren M, Joensuu H, et al. Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor. J Clin Oncol. 2003;21:4342-9.
    • (2003) J Clin Oncol. , vol.21 , pp. 4342-4349
    • Heinrich, M.C.1    Corless, C.L.2    Demetri, G.D.3    Blanke, C.D.4    Mehren, M.5    Joensuu, H.6
  • 21
    • 56749098278 scopus 로고    scopus 로고
    • Primary and secondary kinase genotypes correlate with the biological and clinical activity of sunitinib in imatinib-resistant gastrointestinal stromal tumor
    • Heinrich MC, Maki RG, Corless CL, Antonescu CR, Harlow A, Griffith D, et al. Primary and secondary kinase genotypes correlate with the biological and clinical activity of sunitinib in imatinib-resistant gastrointestinal stromal tumor. J Clin Oncol. 2008;26:5352-9.
    • (2008) J Clin Oncol. , vol.26 , pp. 5352-5359
    • Heinrich, M.C.1    Maki, R.G.2    Corless, C.L.3    Antonescu, C.R.4    Harlow, A.5    Griffith, D.6
  • 22
    • 84890138581 scopus 로고    scopus 로고
    • An overview on molecular biology of KIT/PDGFRA wild type (WT) gastrointestinal stromal tumours (GIST)
    • Nannini M, Biasco G, Astolfi A, Pantaleo MA. An overview on molecular biology of KIT/PDGFRA wild type (WT) gastrointestinal stromal tumours (GIST). J Med Genet. 2013;50:653-61.
    • (2013) J Med Genet. , vol.50 , pp. 653-661
    • Nannini, M.1    Biasco, G.2    Astolfi, A.3    Pantaleo, M.A.4
  • 23
    • 84907398280 scopus 로고    scopus 로고
    • Integrated genomic study of quadruple-WT GIST (KIT/PDGFRA/SDH/RAS pathway wild-type GIST)
    • Nannini M, Astolfi A, Urbini M, Indio V, Santini D, Heinrich MC, et al. Integrated genomic study of quadruple-WT GIST (KIT/PDGFRA/SDH/RAS pathway wild-type GIST). BMC Cancer. 2014;14:685.
    • (2014) BMC Cancer. , vol.14 , pp. 685
    • Nannini, M.1    Astolfi, A.2    Urbini, M.3    Indio, V.4    Santini, D.5    Heinrich, M.C.6
  • 24
    • 79959715470 scopus 로고    scopus 로고
    • SDHA loss-of-function mutations in KIT-PDGFRA wild-type gastrointestinal stromal tumors identified by massively parallel sequencing
    • Pantaleo MA, Astolfi A, Indio V, Moore R, Thiessen N, Heinrich MC, et al. SDHA loss-of-function mutations in KIT-PDGFRA wild-type gastrointestinal stromal tumors identified by massively parallel sequencing. J Natl Cancer Inst. 2011;103:983-7.
    • (2011) J Natl Cancer Inst. , vol.103 , pp. 983-987
    • Pantaleo, M.A.1    Astolfi, A.2    Indio, V.3    Moore, R.4    Thiessen, N.5    Heinrich, M.C.6
  • 27
    • 33749505836 scopus 로고    scopus 로고
    • Efficacy and safety of sunitinib in patients with advanced gastrointestinal stromal tumour after failure of imatinib: a randomised controlled trial
    • Demetri GD, van Oosterom AT, Garrett CR, Blackstein ME, Shah MH, Verweij J, et al. Efficacy and safety of sunitinib in patients with advanced gastrointestinal stromal tumour after failure of imatinib: a randomised controlled trial. Lancet. 2006;368:1329-38.
    • (2006) Lancet , vol.368 , pp. 1329-1338
    • Demetri, G.D.1    Oosterom, A.T.2    Garrett, C.R.3    Blackstein, M.E.4    Shah, M.H.5    Verweij, J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.