메뉴 건너뛰기




Volumn 2, Issue 5, 2016, Pages 616-624

Diagnostic yield of clinical tumor and germline whole-exome sequencing for children with solid tumors

(33)  Parsons, D Williams a   Roy, Angshumoy a,b   Yang, Yaping a   Wang, Tao a   Scollon, Sarah a   Bergstrom, Katie a   Kerstein, Robin A a   Gutierrez, Stephanie a   Petersen, Andrea K a   Bavle, Abhishek a   Lin, Frank Y a   López Terrada, Dolores H a,b   Monzon, Federico A a,b   Hicks, M John a,b   Eldin, Karen W a,b   Quintanilla, Norma M a,b   Adesina, Adekunle M a,b   Mohila, Carrie A a,b   Whitehead, William a,b   Jea, Andrew a,b   more..


Author keywords

[No Author keywords available]

Indexed keywords


EID: 85010703579     PISSN: 23742437     EISSN: 23742445     Source Type: Journal    
DOI: 10.1001/jamaoncol.2015.5699     Document Type: Article
Times cited : (388)

References (33)
  • 2
    • 84885785987 scopus 로고    scopus 로고
    • Clinical whole-exome sequencing for the diagnosis of mendelian disorders
    • Yang Y, Muzny DM, Reid JG, et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013;369(16): 1502-1511.
    • (2013) N Engl J Med. , vol.369 , Issue.16 , pp. 1502-1511
    • Yang, Y.1    Muzny, D.M.2    Reid, J.G.3
  • 3
    • 84918771753 scopus 로고    scopus 로고
    • Molecular findings among patients referred for clinical whole-exome sequencing
    • Yang Y, Muzny DM, Xia F, et al. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014;312(18): 1870-1879.
    • (2014) JAMA , vol.312 , Issue.18 , pp. 1870-1879
    • Yang, Y.1    Muzny, D.M.2    Xia, F.3
  • 4
    • 84885295208 scopus 로고    scopus 로고
    • Actionable pathogenic incidental findings in 1 000 participants' exomes
    • National Heart Lung and Blood Institute Grand Opportunity Exome Sequencing Project
    • Dorschner MO, Amendola LM, Turner EH, et al; National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project. Actionable, pathogenic incidental findings in 1, 000 participants' exomes. Am J Hum Genet. 2013;93(4): 631-640.
    • (2013) Am J Hum Genet. , vol.93 , Issue.4 , pp. 631-640
    • Dorschner, M.O.1    Amendola, L.M.2    Turner, E.H.3
  • 5
    • 84880452562 scopus 로고    scopus 로고
    • Genomics-driven oncology: Framework for an emerging paradigm
    • Garraway LA. Genomics-driven oncology: framework for an emerging paradigm. J Clin Oncol. 2013;31(15):1806-1814.
    • (2013) J Clin Oncol. , vol.31 , Issue.15 , pp. 1806-1814
    • Garraway, L.A.1
  • 6
    • 0038501057 scopus 로고    scopus 로고
    • American Society of Clinical Oncology policy statement update: Genetic testing for cancer susceptibility
    • American Society of Clinical Oncology
    • American Society of Clinical Oncology. American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. J Clin Oncol. 2003;21(12):2397-2406.
    • (2003) J Clin Oncol. , vol.21 , Issue.12 , pp. 2397-2406
  • 7
    • 84908114179 scopus 로고    scopus 로고
    • Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients
    • Scollon S, Bergstrom K, Kerstein RA, et al. Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients. Genome Med. 2014;6 (9):69.
    • (2014) Genome Med. , vol.6 , Issue.9 , pp. 69
    • Scollon, S.1    Bergstrom, K.2    Kerstein, R.A.3
  • 8
    • 84919936242 scopus 로고    scopus 로고
    • Complementary genomic approaches highlight the PI3K/mTOR pathway as a common vulnerability in osteosarcoma
    • Perry JA, Kiezun A, Tonzi P, et al. Complementary genomic approaches highlight the PI3K/mTOR pathway as a common vulnerability in osteosarcoma. Proc Natl Acad Sci U S A. 2014;111(51): E5564-E5573.
    • (2014) Proc Natl Acad Sci U S A. , vol.111 , Issue.51 , pp. E5564-E5573
    • Perry, J.A.1    Kiezun, A.2    Tonzi, P.3
  • 9
    • 78049510428 scopus 로고    scopus 로고
    • Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis
    • Krueger DA, Care MM, Holland K, et al. Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis. N Engl J Med. 2010;363(19):1801-1811.
    • (2010) N Engl J Med. , vol.363 , Issue.19 , pp. 1801-1811
    • Krueger, D.A.1    Care, M.M.2    Holland, K.3
  • 10
    • 84867333656 scopus 로고    scopus 로고
    • Genome sequencing identifies a basis for everolimus sensitivity
    • Iyer G, Hanrahan AJ, Milowsky MI, et al. Genome sequencing identifies a basis for everolimus sensitivity. Science. 2012;338(6104):221.
    • (2012) Science , vol.338 , Issue.6104 , pp. 221
    • Iyer, G.1    Hanrahan, A.J.2    Milowsky, M.I.3
  • 11
    • 84902578876 scopus 로고    scopus 로고
    • Diagnostic clinical genome and exome sequencing
    • Biesecker LG, Green RC. Diagnostic clinical genome and exome sequencing. N Engl J Med. 2014;370(25):2418-2425.
    • (2014) N Engl J Med. , vol.370 , Issue.25 , pp. 2418-2425
    • Biesecker, L.G.1    Green, R.C.2
  • 13
    • 79960572198 scopus 로고    scopus 로고
    • Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities
    • Bainbridge MN, Wang M, Wu Y, et al. Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities. Genome Biol. 2011;12(7):R68.
    • (2011) Genome Biol. , vol.12 , Issue.7 , pp. R68
    • Bainbridge, M.N.1    Wang, M.2    Wu, Y.3
  • 14
    • 84893024407 scopus 로고    scopus 로고
    • Launching genomics into the cloud: Deployment of Mercury, a next generation sequence analysis pipeline
    • Reid JG, Carroll A, Veeraraghavan N, et al. Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline. BMC Bioinformatics. 2014;15:30.
    • (2014) BMC Bioinformatics. , vol.15 , pp. 30
    • Reid, J.G.1    Carroll, A.2    Veeraraghavan, N.3
  • 16
    • 84946040120 scopus 로고    scopus 로고
    • COSMIC: Exploring the world's knowledge of somatic mutations in human cancer
    • Database issue
    • Forbes SA, Beare D, Gunasekaran P, et al. COSMIC: exploring the world's knowledge of somatic mutations in human cancer. Nucleic Acids Res. 2015;43(Database issue):D805-D811.
    • (2015) Nucleic Acids Res. , vol.43 , pp. D805-D811
    • Forbes, S.A.1    Beare, D.2    Gunasekaran, P.3
  • 17
    • 84892968131 scopus 로고    scopus 로고
    • Integrated analysis of germline and somatic variants in ovarian cancer
    • Kanchi KL, Johnson KJ, Lu C, et al. Integrated analysis of germline and somatic variants in ovarian cancer. Nat Commun. 2014;5:3156.
    • (2014) Nat Commun. , vol.5 , pp. 3156
    • Kanchi, K.L.1    Johnson, K.J.2    Lu, C.3
  • 19
    • 84942250025 scopus 로고    scopus 로고
    • Pediatric brain tumors: Innovative genomic information is transforming the diagnostic and clinical landscape
    • Gajjar A, Bowers DC, KarajannisMA, Leary S, Witt H, Gottardo NG. Pediatric brain tumors: Innovative genomic information is transforming the diagnostic and clinical landscape. J Clin Oncol. 2015;33(27):2986-2998.
    • (2015) J Clin Oncol. , vol.33 , Issue.27 , pp. 2986-2998
    • Gajjar, A.1    Bowers, D.C.2    Karajannis, M.A.3    Leary, S.4    Witt, H.5    Gottardo, N.G.6
  • 20
    • 84874664731 scopus 로고    scopus 로고
    • The genetic landscape of high-risk neuroblastoma
    • Pugh TJ, Morozova O, Attiyeh EF, et al. The genetic landscape of high-risk neuroblastoma. Nat Genet. 2013;45(3):279-284.
    • (2013) Nat Genet. , vol.45 , Issue.3 , pp. 279-284
    • Pugh, T.J.1    Morozova, O.2    Attiyeh, E.F.3
  • 21
    • 84871982155 scopus 로고    scopus 로고
    • Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma
    • Sausen M, Leary RJ, Jones S, et al. Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma. Nat Genet. 2013;45(1):12-17.
    • (2013) Nat Genet. , vol.45 , Issue.1 , pp. 12-17
    • Sausen, M.1    Leary, R.J.2    Jones, S.3
  • 22
    • 85027945740 scopus 로고    scopus 로고
    • Hepatocellular carcinoma associated with tight-junction protein 2 deficiency
    • Zhou S, Hertel PM, FinegoldMJ, et al. Hepatocellular carcinoma associated with tight-junction protein 2 deficiency. Hepatology. 2015;62(6):1914-1916. doi:10.1002/hep.27872.
    • (2015) Hepatology. , vol.62 , Issue.6 , pp. 1914-1916
    • Zhou, S.1    Hertel, P.M.2    Finegold, M.J.3
  • 23
    • 84857644144 scopus 로고    scopus 로고
    • Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility
    • Astuti D, Morris MR, Cooper WN, et al. Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility. Nat Genet. 2012;44(3):277-284.
    • (2012) Nat Genet. , vol.44 , Issue.3 , pp. 277-284
    • Astuti, D.1    Morris, M.R.2    Cooper, W.N.3
  • 24
    • 84880535720 scopus 로고    scopus 로고
    • ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
    • American College of Medical Genetics and Genomics
    • Green RC, Berg JS, GrodyWW, et al; American College of Medical Genetics and Genomics. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2013;15(7):565-574.
    • (2013) Genet Med. , vol.15 , Issue.7 , pp. 565-574
    • Green, R.C.1    Berg, J.S.2    Grody, W.W.3
  • 25
    • 84904750123 scopus 로고    scopus 로고
    • Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment
    • Kurian AW, Hare EE, Mills MA, et al. Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. J Clin Oncol. 2014;32(19):2001-2009.
    • (2014) J Clin Oncol. , vol.32 , Issue.19 , pp. 2001-2009
    • Kurian, A.W.1    Hare, E.E.2    Mills, M.A.3
  • 26
    • 84927154472 scopus 로고    scopus 로고
    • Basket trials and the evolution of clinical trial design in an era of genomic medicine
    • Redig AJ, Jänne PA. Basket trials and the evolution of clinical trial design in an era of genomic medicine. J Clin Oncol. 2015;33(9):975-977.
    • (2015) J Clin Oncol. , vol.33 , Issue.9 , pp. 975-977
    • Redig, A.J.1    Jänne, P.A.2
  • 27
    • 84864492215 scopus 로고    scopus 로고
    • Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations
    • Pugh TJ, Weeraratne SD, Archer TC, et al. Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations. Nature. 2012; 488(7409):106-110.
    • (2012) Nature , vol.488 , Issue.7409 , pp. 106-110
    • Pugh, T.J.1    Weeraratne, S.D.2    Archer, T.C.3
  • 28
    • 84864444165 scopus 로고    scopus 로고
    • Novel mutations target distinct subgroups of medulloblastoma
    • Robinson G, Parker M, Kranenburg TA, et al. Novel mutations target distinct subgroups of medulloblastoma. Nature. 2012;488(7409):43-48.
    • (2012) Nature , vol.488 , Issue.7409 , pp. 43-48
    • Robinson, G.1    Parker, M.2    Kranenburg, T.A.3
  • 29
    • 84880777712 scopus 로고    scopus 로고
    • The poly(ADP-ribose) polymerase inhibitor niraparib (MK4827) in BRCA mutation carriers and patients with sporadic cancer: A phase 1 dose-escalation trial
    • Sandhu SK, Schelman WR, Wilding G, et al. The poly(ADP-ribose) polymerase inhibitor niraparib (MK4827) in BRCA mutation carriers and patients with sporadic cancer: a phase 1 dose-escalation trial. Lancet Oncol. 2013;14(9):882-892.
    • (2013) Lancet Oncol. , vol.14 , Issue.9 , pp. 882-892
    • Sandhu, S.K.1    Schelman, W.R.2    Wilding, G.3
  • 30
    • 76049106059 scopus 로고    scopus 로고
    • Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome
    • Schneppenheim R, Frühwald MC, Gesk S, et al. Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. Am J Hum Genet. 2010;86(2):279-284.
    • (2010) Am J Hum Genet. , vol.86 , Issue.2 , pp. 279-284
    • Schneppenheim, R.1    Frühwald, M.C.2    Gesk, S.3
  • 31
    • 67349156045 scopus 로고    scopus 로고
    • Common variations in BARD1 influence susceptibility to high-risk neuroblastoma
    • Capasso M, Devoto M, Hou C, et al. Common variations in BARD1 influence susceptibility to high-risk neuroblastoma. Nat Genet. 2009;41(6): 718-723.
    • (2009) Nat Genet. , vol.41 , Issue.6 , pp. 718-723
    • Capasso, M.1    Devoto, M.2    Hou, C.3
  • 32
    • 33751095620 scopus 로고    scopus 로고
    • Childhood cancer in families with and without BRCA1 or BRCA2 mutations ascertained at a high-risk breast cancer clinic
    • Brooks GA, Stopfer JE, Erlichman J, Davidson R, Nathanson KL, Domchek SM. Childhood cancer in families with and without BRCA1 or BRCA2 mutations ascertained at a high-risk breast cancer clinic. Cancer Biol Ther. 2006;5(9):1098-1102.
    • (2006) Cancer Biol Ther. , vol.5 , Issue.9 , pp. 1098-1102
    • Brooks, G.A.1    Stopfer, J.E.2    Erlichman, J.3    Davidson, R.4    Nathanson, K.L.5    Domchek, S.M.6
  • 33
    • 84928248330 scopus 로고    scopus 로고
    • Personalized genomic analyses for cancer mutation discovery and interpretation
    • Jones S, Anagnostou V, Lytle K, et al. Personalized genomic analyses for cancer mutation discovery and interpretation. Sci Transl Med. 2015; 7(283):283ra53.
    • (2015) Sci Transl Med. , vol.7 , Issue.283 , pp. 283ra53
    • Jones, S.1    Anagnostou, V.2    Lytle, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.