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Volumn 6, Issue 11, 2016, Pages 1230-1236

Immunogenomics of hypermutated glioblastoma: A patient with germline POLE deficiency treated with checkpoint blockade immunotherapy

Author keywords

[No Author keywords available]

Indexed keywords

METHYLATED DNA PROTEIN CYSTEINE METHYLTRANSFERASE; PEMBROLIZUMAB; TEMOZOLOMIDE; TUMOR ANTIGEN; DNA DIRECTED DNA POLYMERASE ALPHA; MONOCLONAL ANTIBODY; POLE PROTEIN, HUMAN;

EID: 84995511734     PISSN: 21598274     EISSN: 21598290     Source Type: Journal    
DOI: 10.1158/2159-8290.CD-16-0575     Document Type: Article
Times cited : (247)

References (33)
  • 2
    • 85016925179 scopus 로고    scopus 로고
    • Principles of immunology and its nuances in the central nervous system
    • Dunn GP, Okada H. Principles of immunology and its nuances in the central nervous system. Neuro Oncol 2015; 17: vii3-vii8.
    • (2015) Neuro Oncol , vol.17 , pp. vii3-vii8
    • Dunn, G.P.1    Okada, H.2
  • 4
    • 84928770388 scopus 로고    scopus 로고
    • Neoantigens in cancer immunotherapy
    • Schumacher TN, Schreiber RD. Neoantigens in cancer immunotherapy. Science 2015; 348: 69-74.
    • (2015) Science , vol.348 , pp. 69-74
    • Schumacher, T.N.1    Schreiber, R.D.2
  • 6
    • 84928761118 scopus 로고    scopus 로고
    • Cancer immunology. Mutational landscape determines sensitivity to PD-1 blockade in non-small cell lung cancer
    • Rizvi NA, Hellmann MD, Snyder A, Kvistborg P, Makarov V, Havel JJ, et al. Cancer immunology. Mutational landscape determines sensitivity to PD-1 blockade in non-small cell lung cancer. Science 2015; 348: 124-8.
    • (2015) Science , vol.348 , pp. 124-128
    • Rizvi, N.A.1    Hellmann, M.D.2    Snyder, A.3    Kvistborg, P.4    Makarov, V.5    Havel, J.J.6
  • 7
    • 84962301577 scopus 로고    scopus 로고
    • Clonal neoantigens elicit T cell immunoreactivity and sensitivity to immune checkpoint blockade
    • McGranahan N, Furness AJ, Rosenthal R, Ramskov S, Lyngaa R, Saini SK, et al. Clonal neoantigens elicit T cell immunoreactivity and sensitivity to immune checkpoint blockade. Science 2016; 351: 1463-9.
    • (2016) Science , vol.351 , pp. 1463-1469
    • McGranahan, N.1    Furness, A.J.2    Rosenthal, R.3    Ramskov, S.4    Lyngaa, R.5    Saini, S.K.6
  • 9
    • 54549108740 scopus 로고    scopus 로고
    • Comprehensive genomic characterization defines human glioblastoma genes and core pathways
    • TCGA Network. Comprehensive genomic characterization defines human glioblastoma genes and core pathways. Nature 2008; 455: 1061-8.
    • (2008) Nature , vol.455 , pp. 1061-1068
  • 10
    • 84892373020 scopus 로고    scopus 로고
    • Mutational analysis reveals the origin and therapy-driven evolution of recurrent glioma
    • Johnson BE, Mazor T, Hong C, Barnes M, Aihara K, McLean CY, et al. Mutational analysis reveals the origin and therapy-driven evolution of recurrent glioma. Science 2014; 343: 189-93.
    • (2014) Science , vol.343 , pp. 189-193
    • Johnson, B.E.1    Mazor, T.2    Hong, C.3    Barnes, M.4    Aihara, K.5    McLean, C.Y.6
  • 11
    • 84923911546 scopus 로고    scopus 로고
    • Whole-genome and multisector exome sequencing of primary and post-treatment glioblastoma reveals patterns of tumor evolution
    • Kim H, Zheng S, Amini S S, Virk S M, Mikkelsen T, Brat D J, et al. Whole-genome and multisector exome sequencing of primary and post-treatment glioblastoma reveals patterns of tumor evolution. Genome Res 2015; 25: 316-27.
    • (2015) Genome Res , vol.25 , pp. 316-327
    • Kim, H.1    Zheng, S.2    Amini, S.S.3    Virk, S.M.4    Mikkelsen, T.5    Brat, D.J.6
  • 12
    • 34247499001 scopus 로고    scopus 로고
    • Loss of the mismatch repair protein MSH6 in human glioblastomas is associated with tumor progression during temozolomide treatment
    • Cahill DP, Levine KK, Betensky RA, Codd PJ, Romany CA, Reavie LB, et al. Loss of the mismatch repair protein MSH6 in human glioblastomas is associated with tumor progression during temozolomide treatment. Clin Cancer Res 2007; 13: 2038-45.
    • (2007) Clin Cancer Res , vol.13 , pp. 2038-2045
    • Cahill, D.P.1    Levine, K.K.2    Betensky, R.A.3    Codd, P.J.4    Romany, C.A.5    Reavie, L.B.6
  • 13
    • 84939992139 scopus 로고    scopus 로고
    • Evolution of DNA repair defects during malignant progression of low-grade gliomas after temozolomide treatment
    • van Thuijl HF, Mazor T, Johnson BE, Fouse SD, Aihara K, Hong C, et al. Evolution of DNA repair defects during malignant progression of low-grade gliomas after temozolomide treatment. Acta Neuropathol 2015; 129: 597-607.
    • (2015) Acta Neuropathol , vol.129 , pp. 597-607
    • van Thuijl, H.F.1    Mazor, T.2    Johnson, B.E.3    Fouse, S.D.4    Aihara, K.5    Hong, C.6
  • 14
    • 84943372151 scopus 로고    scopus 로고
    • Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis
    • Erson-Omay EZ, Caglayan AO, Schultz N, Weinhold N, Omay SB, Ozduman K, et al. Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis. Neuro Oncol 2015; 17: 1356-64.
    • (2015) Neuro Oncol , vol.17 , pp. 1356-1364
    • Erson-Omay, E.Z.1    Caglayan, A.O.2    Schultz, N.3    Weinhold, N.4    Omay, S.B.5    Ozduman, K.6
  • 15
    • 84873096362 scopus 로고    scopus 로고
    • Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
    • Palles C, Cazier JB, Howarth KM, Domingo E, Jones AM, Broderick P, et al. Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet 2013; 45: 136-44.
    • (2013) Nat Genet , vol.45 , pp. 136-144
    • Palles, C.1    Cazier, J.B.2    Howarth, K.M.3    Domingo, E.4    Jones, A.M.5    Broderick, P.6
  • 16
    • 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
  • 17
    • 73649123907 scopus 로고    scopus 로고
    • Integrated genomic analysis identifies clinically relevant subtypes of glioblastoma characterized by abnormalities in PDGFRA, IDH1, EGFR, and NF1
    • Verhaak RG, Hoadley KA, Purdom E, Wang V, Qi Y, Wilkerson M D, et al. Integrated genomic analysis identifies clinically relevant subtypes of glioblastoma characterized by abnormalities in PDGFRA, IDH1, EGFR, and NF1. Cancer Cell 2010; 17: 98-110.
    • (2010) Cancer Cell , vol.17 , pp. 98-110
    • Verhaak, R.G.1    Hoadley, K.A.2    Purdom, E.3    Wang, V.4    Qi, Y.5    Wilkerson, M.D.6
  • 20
    • 0043122919 scopus 로고    scopus 로고
    • SIFT: Predicting amino acid changes that affect protein function
    • Ng PC, Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res 2003; 31: 3812-4.
    • (2003) Nucleic Acids Res , vol.31 , pp. 3812-3814
    • Ng, P.C.1    Henikoff, S.2
  • 21
    • 84878799611 scopus 로고    scopus 로고
    • Predicting functional effect of human missense mutations using PolyPhen-2
    • editorial board, Jonathan L Haines [et al], Chapter 7, Unit7 20
    • Adzhubei I, Jordan DM, Sunyaev SR. Predicting functional effect of human missense mutations using PolyPhen-2. Current protocols in human genetics/editorial board, Jonathan L Haines [et al] 2013; Chapter 7: Unit7 20.
    • (2013) Current protocols in human genetics
    • Adzhubei, I.1    Jordan, D.M.2    Sunyaev, S.R.3
  • 22
    • 84907270779 scopus 로고    scopus 로고
    • Comprehensive molecular characterization of gastric adenocarcinoma
    • Cancer Genome Atlas Research N. Comprehensive molecular characterization of gastric adenocarcinoma. Nature 2014; 513: 202-9.
    • (2014) Nature , vol.513 , pp. 202-209
  • 25
    • 84962301577 scopus 로고    scopus 로고
    • Clonal neoantigens elicit T cell immunoreactivity and sensitivity to immune checkpoint blockade
    • McGranahan N, Furness AJ, Rosenthal R, Ramskov S, Lyngaa R, Saini SK, et al. Clonal neoantigens elicit T cell immunoreactivity and sensitivity to immune checkpoint blockade. Science 2016; 351: 1463-9.
    • (2016) Science , vol.351 , pp. 1463-1469
    • McGranahan, N.1    Furness, A.J.2    Rosenthal, R.3    Ramskov, S.4    Lyngaa, R.5    Saini, S.K.6
  • 28
    • 84929293860 scopus 로고    scopus 로고
    • Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas
    • Spier I, Holzapfel S, Altmuller J, Zhao B, Horpaopan S, Vogt S, et al. Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas. Int J Cancer 2015; 137: 320-31.
    • (2015) Int J Cancer , vol.137 , pp. 320-331
    • Spier, I.1    Holzapfel, S.2    Altmuller, J.3    Zhao, B.4    Horpaopan, S.5    Vogt, S.6
  • 30
    • 84976467739 scopus 로고    scopus 로고
    • Immune checkpoint inhibition for hypermutant glioblastoma multiforme resulting from germline biallelic mismatch repair deficiency
    • Bouffet E, Larouche V, Campbell BB, Merico D, de Borja R, Aronson M, et al. Immune checkpoint inhibition for hypermutant glioblastoma multiforme resulting from germline biallelic mismatch repair deficiency. J Clin Oncol 2016; 34: 2206-11.
    • (2016) J Clin Oncol , vol.34 , pp. 2206-2211
    • Bouffet, E.1    Larouche, V.2    Campbell, B.B.3    Merico, D.4    de Borja, R.5    Aronson, M.6
  • 31
    • 84942319120 scopus 로고    scopus 로고
    • Spatiotemporal evolution of the primary glioblastoma genome
    • Kim J, Lee IH, Cho HJ, Park CK, Jung YS, Kim Y, et al. Spatiotemporal evolution of the primary glioblastoma genome. Cancer Cell 2015; 28: 318-28.
    • (2015) Cancer Cell , vol.28 , pp. 318-328
    • Kim, J.1    Lee, I.H.2    Cho, H.J.3    Park, C.K.4    Jung, Y.S.5    Kim, Y.6
  • 33
    • 84862776906 scopus 로고    scopus 로고
    • Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing
    • Ding L, Ley TJ, Larson DE, Miller CA, Koboldt DC, Welch JS, et al. Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing. Nature 2012; 481: 506-10.
    • (2012) Nature , vol.481 , pp. 506-510
    • Ding, L.1    Ley, T.J.2    Larson, D.E.3    Miller, C.A.4    Koboldt, D.C.5    Welch, J.S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.