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Volumn 17, Issue 3, 2018, Pages 183-196

Drug development in the era of precision medicine

Author keywords

[No Author keywords available]

Indexed keywords

AFATINIB; CETUXIMAB; CRIZOTINIB; DABRAFENIB; DEFERASIROX; ENASIDENIB; ERLOTINIB; EVEROLIMUS; GEFITINIB; IMATINIB; MIDOSTAURIN; OLAPARIB; OSIMERTINIB; PANITUMUMAB; PEMBROLIZUMAB; PERTUZUMAB; PROPROTEIN CONVERTASE 9; RETIGABINE; RUCAPARIB; TRAMETINIB; TRASTUZUMAB; TRASTUZUMAB EMTANSINE; VEMURAFENIB; VENETOCLAX; DRUG;

EID: 85042674074     PISSN: 14741776     EISSN: 14741784     Source Type: Journal    
DOI: 10.1038/nrd.2017.226     Document Type: Review
Times cited : (331)

References (158)
  • 4
    • 34247555321 scopus 로고    scopus 로고
    • The myth of the biotech revolution: An assessment of technological, clinical and organisational change
    • Hopkins, M. M., Martin, P. A., Nightingale, P., Kraft, A. &Mahdi, S. The myth of the biotech revolution: an assessment of technological, clinical and organisational change. Res. Policy 36, 566-589 (2007).
    • (2007) Res. Policy , vol.36 , pp. 566-589
    • Hopkins, M.M.1    Martin, P.A.2    Nightingale, P.3    Kraft, A.4    Mahdi, S.5
  • 7
    • 0000034899 scopus 로고    scopus 로고
    • Economies of scale in experimentation: Knowledge and technology in pharmaceutical R&D
    • Nightingale, P. Economies of scale in experimentation: knowledge and technology in pharmaceutical R&D. Ind. Corp. Change 9, 315-359 (2000).
    • (2000) Ind. Corp. Change , vol.9 , pp. 315-359
    • Nightingale, P.1
  • 9
    • 0025879424 scopus 로고
    • Complementary DNA sequencing: Expressed sequence tags and human genome project
    • Adams, M. D. et al. Complementary DNA sequencing: expressed sequence tags and human genome project. Science 252, 1651-1656 (1991).
    • (1991) Science , vol.252 , pp. 1651-1656
    • Adams, M.D.1
  • 10
    • 0029653613 scopus 로고
    • Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence
    • Adams, M. D. et al. Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence. Nature 377, 3-174 (1995).
    • (1995) Nature , vol.377 , pp. 3-174
    • Adams, M.D.1
  • 11
    • 0031093489 scopus 로고    scopus 로고
    • Discovering genes for new medicines
    • Haseltine, W. A. Discovering genes for new medicines. Sci. Am. 276, 92-97 (1997).
    • (1997) Sci. Am. , vol.276 , pp. 92-97
    • Haseltine, W.A.1
  • 12
    • 0034869257 scopus 로고    scopus 로고
    • Genomics and drug discovery
    • Haseltine, W. A. Genomics and drug discovery. J. Am. Acad. Dermatol. 45, 473-475 (2001).
    • (2001) J. Am. Acad. Dermatol. , vol.45 , pp. 473-475
    • Haseltine, W.A.1
  • 13
    • 0027907631 scopus 로고
    • Smithkline backs sequencing company
    • Gershon, D. Smithkline backs sequencing company. Nature 363, 387 (1993).
    • (1993) Nature , vol.363 , pp. 387
    • Gershon, D.1
  • 16
    • 84901946024 scopus 로고    scopus 로고
    • Lessons learned from the fate of AstraZeneca's drug pipeline: A five-dimensional framework
    • Cook, D. et al. Lessons learned from the fate of AstraZeneca's drug pipeline: a five-dimensional framework. Nat. Rev. Drug Discov. 13, 419-431 (2014).
    • (2014) Nat. Rev. Drug Discov. , vol.13 , pp. 419-431
    • Cook, D.1
  • 17
    • 84938292742 scopus 로고    scopus 로고
    • The support of human genetic evidence for approved drug indications
    • Nelson, M. R. et al. The support of human genetic evidence for approved drug indications. Nat. Genet. 47, 856-860 (2015).
    • (2015) Nat. Genet. , vol.47 , pp. 856-860
    • Nelson, M.R.1
  • 18
    • 43049146524 scopus 로고    scopus 로고
    • HapMap harvest of insights into the genetics of common disease
    • Manolio, T. A., Brooks, L. D. &Collins, F. S. A. HapMap harvest of insights into the genetics of common disease. J. Clin. Invest. 118, 1590-1605 (2008).
    • (2008) J. Clin. Invest. , vol.118 , pp. 1590-1605
    • Manolio, T.A.1    Brooks, L.D.2    Collins, F.S.A.3
  • 19
    • 40049101431 scopus 로고    scopus 로고
    • Genome-wide association studies: Progress and potential for drug discovery and development
    • Kingsmore, S. F., Lindquist, I. E., Mudge, J., Gessler, D. D. &Beavis, W. D. Genome-wide association studies: progress and potential for drug discovery and development. Nat. Rev. Drug Discov. 7, 221-230 (2008).
    • (2008) Nat. Rev. Drug Discov. , vol.7 , pp. 221-230
    • Kingsmore, S.F.1    Lindquist, I.E.2    Mudge, J.3    Gessler, D.D.4    Beavis, W.D.5
  • 20
    • 84860525001 scopus 로고    scopus 로고
    • Do genome-wide association scans have potential for translation?
    • Lopes, M. C., Zeggini, E. &Panoutsopoulou, K. Do genome-wide association scans have potential for translation? Clin. Chem. Lab. Med. 50, 255-260 (2011).
    • (2011) Clin. Chem. Lab. Med. , vol.50 , pp. 255-260
    • Lopes, M.C.1    Zeggini, E.2    Panoutsopoulou, K.3
  • 22
    • 33845340501 scopus 로고    scopus 로고
    • A genome-wide association study identifies IL23R as an inflammatory bowel disease gene
    • Duerr, R. H. et al. A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science 314, 1461-1463 (2006).
    • (2006) Science , vol.314 , pp. 1461-1463
    • Duerr, R.H.1
  • 23
    • 43249083380 scopus 로고    scopus 로고
    • A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci
    • Liu, Y. et al. A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci. PLoS Genet. 4, e1000041 (2008).
    • (2008) PLoS Genet. , vol.4 , pp. e1000041
    • Liu, Y.1
  • 24
    • 75749085686 scopus 로고    scopus 로고
    • Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci
    • Australo-Anglo-American Spondyloarthritis Consortium (TASC) et al.
    • Australo-Anglo-American Spondyloarthritis Consortium (TASC) et al. Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. Nat. Genet. 42, 123-127 (2010).
    • (2010) Nat. Genet. , vol.42 , pp. 123-127
  • 25
    • 84906535154 scopus 로고    scopus 로고
    • The IL-23-IL-17 immune axis: From mechanisms to therapeutic testing
    • Gaffen, S. L., Jain, R., Garg, A. V. &Cua, D. J. The IL-23-IL-17 immune axis: from mechanisms to therapeutic testing. Nat. Rev. Immunol. 14, 585-600 (2014).
    • (2014) Nat. Rev. Immunol. , vol.14 , pp. 585-600
    • Gaffen, S.L.1    Jain, R.2    Garg, A.V.3    Cua, D.J.4
  • 26
    • 84995563335 scopus 로고    scopus 로고
    • Ustekinumab as induction and maintenance therapy for Crohn's disease
    • Feagan, B. G. et al. Ustekinumab as induction and maintenance therapy for Crohn's disease. N. Engl. J. Med. 375, 1946-1960 (2016).
    • (2016) N. Engl. J. Med. , vol.375 , pp. 1946-1960
    • Feagan, B.G.1
  • 27
    • 84931010218 scopus 로고    scopus 로고
    • Anti-IL-23A mAb BI 655066 for treatment of moderate-to-severe psoriasis: Safety, efficacy, pharmacokinetics, and biomarker results of a single-rising-dose, randomized, double-blind, placebo-controlled trial
    • Krueger, J. G. et al. Anti-IL-23A mAb BI 655066 for treatment of moderate-to-severe psoriasis: safety, efficacy, pharmacokinetics, and biomarker results of a single-rising-dose, randomized, double-blind, placebo-controlled trial. J. Allergy Clin. Immunol. 136, 116-124.e7 (2015).
    • (2015) J. Allergy Clin. Immunol. , vol.136 , pp. 116-124e7
    • Krueger, J.G.1
  • 28
    • 85017435425 scopus 로고    scopus 로고
    • Induction therapy with the selective interleukin-23 inhibitor risankizumab in patients with moderate-to-severe Crohn's disease: A randomised, double-blind, placebo-controlled phase 2 study
    • Feagan, B. G. et al. Induction therapy with the selective interleukin-23 inhibitor risankizumab in patients with moderate-to-severe Crohn's disease: a randomised, double-blind, placebo-controlled phase 2 study. Lancet 389, 1699-1709 (2017).
    • (2017) Lancet , vol.389 , pp. 1699-1709
    • Feagan, B.G.1
  • 29
    • 84929359284 scopus 로고    scopus 로고
    • Clinical improvement in psoriasis with specific targeting of interleukin-23
    • Kopp, T. et al. Clinical improvement in psoriasis with specific targeting of interleukin-23. Nature 521, 222-226 (2015).
    • (2015) Nature , vol.521 , pp. 222-226
    • Kopp, T.1
  • 30
    • 84897980960 scopus 로고    scopus 로고
    • Ustekinumab for the treatment of patients with active ankylosing spondylitis: Results of a 28-week, prospective, open-label, proof-of-concept study (TOPAS)
    • Poddubnyy, D., Hermann, K.-G. A., Callhoff, J., Listing, J. &Sieper, J. Ustekinumab for the treatment of patients with active ankylosing spondylitis: results of a 28-week, prospective, open-label, proof-of-concept study (TOPAS). Ann. Rheum. Dis. 73, 817-823 (2014).
    • (2014) Ann. Rheum. Dis. , vol.73 , pp. 817-823
    • Poddubnyy, D.1    Hermann, K.-G.A.2    Callhoff, J.3    Listing, J.4    Sieper, J.5
  • 31
    • 84954556278 scopus 로고    scopus 로고
    • Therapeutic targeting of IL-17 and IL-23 cytokines in immune-mediated diseases
    • Fragoulis, G. E., Siebert, S. &McInnes, I. B. Therapeutic targeting of IL-17 and IL-23 cytokines in immune-mediated diseases. Annu. Rev. Med. 67, 337-353 (2016).
    • (2016) Annu. Rev. Med. , vol.67 , pp. 337-353
    • Fragoulis, G.E.1    Siebert, S.2    McInnes, I.B.3
  • 32
    • 34248594090 scopus 로고    scopus 로고
    • A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity
    • Frayling, T. M. et al. A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science 316, 889-894 (2007).
    • (2007) Science , vol.316 , pp. 889-894
    • Frayling, T.M.1
  • 33
    • 34249777814 scopus 로고    scopus 로고
    • Variation in FTO contributes to childhood obesity and severe adult obesity
    • Dina, C. et al. Variation in FTO contributes to childhood obesity and severe adult obesity. Nat. Genet. 39, 724-726 (2007).
    • (2007) Nat. Genet. , vol.39 , pp. 724-726
    • Dina, C.1
  • 34
    • 85048291452 scopus 로고    scopus 로고
    • Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits
    • Scuteri, A. et al. Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits. PLoS Genet. 3, e115 (2007).
    • (2007) PLoS Genet. , vol.3 , pp. e115
    • Scuteri, A.1
  • 35
    • 84910142437 scopus 로고    scopus 로고
    • Obesity and FTO: Changing focus at a complex locus
    • Tung, Y. C. L., Yeo, G. S. H., O'Rahilly, S. &Coll, A. P. Obesity and FTO: changing focus at a complex locus. Cell Metab. 20, 710-718 (2014).
    • (2014) Cell Metab. , vol.20 , pp. 710-718
    • Tung, Y.C.L.1    Yeo, G.S.H.2    O'Rahilly, S.3    Coll, A.P.4
  • 36
    • 85047688293 scopus 로고    scopus 로고
    • The bigger picture of FTO: The first GWAS-identified obesity gene
    • Loos, R. J. F. &Yeo, G. S. H. The bigger picture of FTO: the first GWAS-identified obesity gene. Nat. Rev. Endocrinol. 10, 51-61 (2014).
    • (2014) Nat. Rev. Endocrinol. , vol.10 , pp. 51-61
    • Loos, R.J.F.1    Yeo, G.S.H.2
  • 37
    • 84940830979 scopus 로고    scopus 로고
    • FTO obesity variant circuitry and adipocyte browning in humans
    • Claussnitzer, M. et al. FTO obesity variant circuitry and adipocyte browning in humans. N. Engl. J. Med. 373, 895-907 (2015).
    • (2015) N. Engl. J. Med. , vol.373 , pp. 895-907
    • Claussnitzer, M.1
  • 38
    • 84897855294 scopus 로고    scopus 로고
    • Obesity-associated variants within FTO form long-range functional connections with IRX3
    • Smemo, S. et al. Obesity-associated variants within FTO form long-range functional connections with IRX3. Nature 507, 371-375 (2014).
    • (2014) Nature , vol.507 , pp. 371-375
    • Smemo, S.1
  • 39
    • 85020941675 scopus 로고    scopus 로고
    • An expanded view of complex traits: From polygenic to omnigenic
    • This paper proposes an 'omnigenic' model of complex disease and trait inheritance, arguing in favour of a few 'core' disease variants, with the bulk of heritability caused by an immense amount of 'peripheral' variants expressed in disease-relevant cell types
    • Boyle, E. A., Li, Y. I. &Pritchard, J. K. An expanded view of complex traits: from polygenic to omnigenic. Cell 169, 1177-1186 (2017). This paper proposes an 'omnigenic' model of complex disease and trait inheritance, arguing in favour of a few 'core' disease variants, with the bulk of heritability caused by an immense amount of 'peripheral' variants expressed in disease-relevant cell types.
    • (2017) Cell , vol.169 , pp. 1177-1186
    • Boyle, E.A.1    Li, Y.I.2    Pritchard, J.K.3
  • 40
    • 65949107547 scopus 로고    scopus 로고
    • Common genetic variation and human traits
    • Goldstein, D. B. Common genetic variation and human traits. N. Engl. J. Med. 360, 1696-1698 (2009).
    • (2009) N. Engl. J. Med. , vol.360 , pp. 1696-1698
    • Goldstein, D.B.1
  • 42
    • 0037603589 scopus 로고    scopus 로고
    • Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
    • Abifadel, M. et al. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat. Genet. 34, 154-156 (2003).
    • (2003) Nat. Genet. , vol.34 , pp. 154-156
    • Abifadel, M.1
  • 43
    • 33847075832 scopus 로고    scopus 로고
    • A novel loss of function mutation of PCSK9 gene in white subjects with low-plasma lowdensity lipoprotein cholesterol
    • Fasano, T. et al. A novel loss of function mutation of PCSK9 gene in white subjects with low-plasma lowdensity lipoprotein cholesterol. Arterioscler. Thromb. Vasc. Biol. 27, 677-681 (2007).
    • (2007) Arterioscler. Thromb. Vasc. Biol. , vol.27 , pp. 677-681
    • Fasano, T.1
  • 44
    • 13944265645 scopus 로고    scopus 로고
    • Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9
    • Cohen, J. et al. Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. Nat. Genet. 37, 161-165 (2005).
    • (2005) Nat. Genet. , vol.37 , pp. 161-165
    • Cohen, J.1
  • 45
    • 33645103550 scopus 로고    scopus 로고
    • Sequence variations in PCSK9, low LDL, and protection against coronary heart disease
    • Cohen, J. C., Boerwinkle, E., Mosley, T. H. &Hobbs, H. H. Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N. Engl. J. Med. 354, 1264-1272 (2006).
    • (2006) N. Engl. J. Med. , vol.354 , pp. 1264-1272
    • Cohen, J.C.1    Boerwinkle, E.2    Mosley, T.H.3    Hobbs, H.H.4
  • 46
    • 33344464808 scopus 로고    scopus 로고
    • A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol
    • Kotowski, I. K. et al. A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol. Am. J. Hum. Genet. 78, 410-422 (2006).
    • (2006) Am. J. Hum. Genet. , vol.78 , pp. 410-422
    • Kotowski, I.K.1
  • 47
    • 34547108600 scopus 로고    scopus 로고
    • Binding of proprotein convertase subtilisin/kexin type 9 to epidermal growth factor-like repeat A of low density lipoprotein receptor decreases receptor recycling and increases degradation
    • Zhang, D.-W. et al. Binding of proprotein convertase subtilisin/kexin type 9 to epidermal growth factor-like repeat A of low density lipoprotein receptor decreases receptor recycling and increases degradation. J. Biol. Chem. 282, 18602-18612 (2007).
    • (2007) J. Biol. Chem. , vol.282 , pp. 18602-18612
    • Zhand, D.-W.1
  • 48
    • 38349117118 scopus 로고    scopus 로고
    • The proprotein convertase PCSK9 induces the degradation of low density lipoprotein receptor (LDLR) and its closest family members VLDLR and ApoER2
    • Poirier, S. et al. The proprotein convertase PCSK9 induces the degradation of low density lipoprotein receptor (LDLR) and its closest family members VLDLR and ApoER2. J. Biol. Chem. 283, 2363-2372 (2008).
    • (2008) J. Biol. Chem. , vol.283 , pp. 2363-2372
    • Poirier, S.1
  • 49
    • 84925351969 scopus 로고    scopus 로고
    • Lipid lowering with PCSK9 inhibitors
    • Dadu, R. T. &Ballantyne, C. M. Lipid lowering with PCSK9 inhibitors. Nat. Rev. Cardiol. 11, 563-575 (2014).
    • (2014) Nat. Rev. Cardiol. , vol.11 , pp. 563-575
    • Dadu, R.T.1    Ballantyne, C.M.2
  • 50
    • 85017341929 scopus 로고    scopus 로고
    • Evolocumab and clinical outcomes in patients with cardiovascular disease
    • Sabatine, M. S. et al. Evolocumab and clinical outcomes in patients with cardiovascular disease. N. Engl. J. Med. 376, 1713-1722 (2017).
    • (2017) N. Engl. J. Med. , vol.376 , pp. 1713-1722
    • Sabatine, M.S.1
  • 51
    • 84887435979 scopus 로고    scopus 로고
    • Human genetics as a foundation for innovative drug development
    • Kamb, A., Harper, S. &Stefansson, K. Human genetics as a foundation for innovative drug development. Nat. Biotechnol. 31, 975-978 (2013).
    • (2013) Nat. Biotechnol. , vol.31 , pp. 975-978
    • Kamb, A.1    Harper, S.2    Stefansson, K.3
  • 52
    • 84925223855 scopus 로고    scopus 로고
    • Amgen and Regeneron push for a genetic renaissance in drug discovery
    • Eisenstein, M. Amgen and Regeneron push for a genetic renaissance in drug discovery. Nat. Biotechnol. 32, 208-209 (2014).
    • (2014) Nat. Biotechnol. , vol.32 , pp. 208-209
    • Eisenstein, M.1
  • 53
    • 84929133372 scopus 로고    scopus 로고
    • Identification of a large set of rare complete human knockouts
    • Sulem, P. et al. Identification of a large set of rare complete human knockouts. Nat. Genet. 47, 448-452 (2015).
    • (2015) Nat. Genet. , vol.47 , pp. 448-452
    • Sulem, P.1
  • 54
    • 84961948174 scopus 로고    scopus 로고
    • Inactivating variants in ANGPTL4 and risk of coronary artery disease
    • Dewey, F. E. et al. Inactivating variants in ANGPTL4 and risk of coronary artery disease. N. Engl. J. Med. 374, 1123-1133 (2016).
    • (2016) N. Engl. J. Med. , vol.374 , pp. 1123-1133
    • Dewey, F.E.1
  • 55
    • 13044294682 scopus 로고    scopus 로고
    • An evidence-based analysis of the effect of busulfan, hydroxyurea, interferon, and allogeneic bone marrow transplantation in treating the chronic phase of chronic myeloid leukemia: Developed for the American society of hematology: Presented in part at the education session of the American society of hematology, December 5, 1998, miami beach, fl
    • Silver, R. T. et al. An evidence-based analysis of the effect of busulfan, hydroxyurea, interferon, and allogeneic bone marrow transplantation in treating the chronic phase of chronic myeloid leukemia: developed for the American Society of Hematology: presented in part at the Education Session of the American Society of Hematology, December 5, 1998, Miami Beach, FL. Blood 94, 1517-1536 (1999).
    • (1999) Blood , vol.94 , pp. 1517-1536
    • Silver, R.T.1
  • 56
    • 77951494873 scopus 로고    scopus 로고
    • Targeted cancer therapies in the twentyfirst century: Lessons from imatinib
    • Stegmeier, F., Warmuth, M., Sellers, W. R. &Dorsch, M. Targeted cancer therapies in the twentyfirst century: lessons from imatinib. Clin. Pharmacol. Ther. 87, 543-552 (2010).
    • (2010) Clin. Pharmacol. Ther. , vol.87 , pp. 543-552
    • Stegmeier, F.1    Warmuth, M.2    Sellers, W.R.3    Dorsch, M.4
  • 57
    • 58149398623 scopus 로고    scopus 로고
    • Translation of the Philadelphia chromosome into therapy for CML
    • Druker, B. J. Translation of the Philadelphia chromosome into therapy for CML. Blood 112, 4808-4817 (2008).
    • (2008) Blood , vol.112 , pp. 4808-4817
    • Druker, B.J.1
  • 58
    • 0037103424 scopus 로고    scopus 로고
    • Efficacy and safety of imatinib mesylate in advanced gastrointestinal stromal tumors
    • Demetri, G. D. et al. Efficacy and safety of imatinib mesylate in advanced gastrointestinal stromal tumors. N. Engl. J. Med. 347, 472-480 (2002).
    • (2002) N. Engl. J. Med. , vol.347 , pp. 472-480
    • Demetri, G.D.1
  • 59
    • 0035869407 scopus 로고    scopus 로고
    • Use of chemotherapy plus a monoclonal antibody against HER2 for metastatic breast cancer that overexpresses HER2
    • Slamon, D. J. et al. Use of chemotherapy plus a monoclonal antibody against HER2 for metastatic breast cancer that overexpresses HER2. N. Engl. J. Med. 344, 783-792 (2001).
    • (2001) N. Engl. J. Med. , vol.344 , pp. 783-792
    • Slamon, D.J.1
  • 60
    • 84864285704 scopus 로고    scopus 로고
    • Dabrafenib in BRAF-mutated metastatic melanoma: A multicentre, open-label, phase 3 randomised controlled trial
    • Hauschild, A. et al. Dabrafenib in BRAF-mutated metastatic melanoma: a multicentre, open-label, phase 3 randomised controlled trial. Lancet 380, 358-365 (2012).
    • (2012) Lancet , vol.380 , pp. 358-365
    • Hauschild, A.1
  • 61
    • 84896714827 scopus 로고    scopus 로고
    • Safety and efficacy of vemurafenib in BRAF(V600E) and BRAF(V600K) mutation-positive melanoma (BRIM-3): Extended follow-up of a phase 3, randomised, open-label study
    • McArthur, G. A. et al. Safety and efficacy of vemurafenib in BRAF(V600E) and BRAF(V600K) mutation-positive melanoma (BRIM-3): extended follow-up of a phase 3, randomised, open-label study. Lancet Oncol. 15, 323-332 (2014).
    • (2014) Lancet Oncol. , vol.15 , pp. 323-332
    • McArthur, G.A.1
  • 62
    • 77953930730 scopus 로고    scopus 로고
    • Gefitinib or chemotherapy for non-small-cell lung cancer with mutated EGFR
    • Maemondo, M. et al. Gefitinib or chemotherapy for non-small-cell lung cancer with mutated EGFR. N. Engl. J. Med. 362, 2380-2388 (2010).
    • (2010) N. Engl. J. Med. , vol.362 , pp. 2380-2388
    • Maemondo, M.1
  • 63
    • 79960889662 scopus 로고    scopus 로고
    • Erlotinib versus chemotherapy as first-line treatment for patients with advanced EGFR mutation-positive non-small-cell lung cancer (OPTIMAL, CTONG-0802): A multicentre, openlabel, randomised, phase 3 study
    • Zhou, C. et al. Erlotinib versus chemotherapy as first-line treatment for patients with advanced EGFR mutation-positive non-small-cell lung cancer (OPTIMAL, CTONG-0802): a multicentre, openlabel, randomised, phase 3 study. Lancet Oncol. 12, 735-742 (2011).
    • (2011) Lancet Oncol. , vol.12 , pp. 735-742
    • Zhou, C.1
  • 64
    • 75249087060 scopus 로고    scopus 로고
    • Gefitinib versus cisplatin plus docetaxel in patients with non-small-cell lung cancer harbouring mutations of the epidermal growth factor receptor (WJTOG3405): An open label, randomised phase 3 trial
    • Mitsudomi, T. et al. Gefitinib versus cisplatin plus docetaxel in patients with non-small-cell lung cancer harbouring mutations of the epidermal growth factor receptor (WJTOG3405): an open label, randomised phase 3 trial. Lancet Oncol. 11, 121-128 (2010).
    • (2010) Lancet Oncol. , vol.11 , pp. 121-128
    • Mitsudomi, T.1
  • 65
    • 84857502654 scopus 로고    scopus 로고
    • Erlotinib versus standard chemotherapy as first-line treatment for European patients with advanced EGFR mutation-positive nonsmall-cell lung cancer (EURTAC): A multicentre, openlabel, randomised phase 3 trial
    • Rosell, R. et al. Erlotinib versus standard chemotherapy as first-line treatment for European patients with advanced EGFR mutation-positive nonsmall-cell lung cancer (EURTAC): a multicentre, openlabel, randomised phase 3 trial. Lancet Oncol. 13, 239-246 (2012).
    • (2012) Lancet Oncol. , vol.13 , pp. 239-246
    • Rosell, R.1
  • 66
    • 84884736973 scopus 로고    scopus 로고
    • Phase III study of afatinib or cisplatin plus pemetrexed in patients with metastatic lung adenocarcinoma with EGFR mutations
    • Sequist, L. V. et al. Phase III study of afatinib or cisplatin plus pemetrexed in patients with metastatic lung adenocarcinoma with EGFR mutations. J. Clin. Oncol. 31, 3327-3334 (2013).
    • (2013) J. Clin. Oncol. , vol.31 , pp. 3327-3334
    • Sequist, L.V.1
  • 67
    • 84892997539 scopus 로고    scopus 로고
    • Afatinib versus cisplatin plus gemcitabine for first-line treatment of Asian patients with advanced non-small-cell lung cancer harbouring EGFR mutations (LUX-Lung 6): An open-label, randomised phase 3 trial
    • Wu, Y.-L. et al. Afatinib versus cisplatin plus gemcitabine for first-line treatment of Asian patients with advanced non-small-cell lung cancer harbouring EGFR mutations (LUX-Lung 6): an open-label, randomised phase 3 trial. Lancet Oncol. 15, 213-222 (2014).
    • (2014) Lancet Oncol. , vol.15 , pp. 213-222
    • Wu, Y.-L.1
  • 68
    • 84942875194 scopus 로고    scopus 로고
    • Development of olaparib for BRCA-deficient recurrent epithelial ovarian cancer
    • Tewari, K. S., Eskander, R. N. &Monk, B. J. Development of olaparib for BRCA-deficient recurrent epithelial ovarian cancer. Clin. Cancer Res. 21, 3829-3835 (2015).
    • (2015) Clin. Cancer Res. , vol.21 , pp. 3829-3835
    • Tewari, K.S.1    Eskander, R.N.2    Monk, B.J.3
  • 69
    • 85015299616 scopus 로고    scopus 로고
    • PARP inhibitors: Synthetic lethality in the clinic
    • Lord, C. J. &Ashworth, A. PARP inhibitors: synthetic lethality in the clinic. Science 355, 1152-1158 (2017).
    • (2017) Science , vol.355 , pp. 1152-1158
    • Lord, C.J.1    Ashworth, A.2
  • 70
    • 85039732937 scopus 로고    scopus 로고
    • Treatment with olaparib monotherapy in the maintenance setting significantly improves progression-free survival in patients with platinum-sensitive relapsed ovarian cancer: Results from the phase III SOLO2 study
    • Pujade-Lauraine, E. et al. Treatment with olaparib monotherapy in the maintenance setting significantly improves progression-free survival in patients with platinum-sensitive relapsed ovarian cancer: results from the phase III SOLO2 study. Gynecol. Oncol. 145, 219-220 (2017).
    • (2017) Gynecol. Oncol. , vol.145 , pp. 219-220
    • Pujade-Lauraine, E.1
  • 71
    • 84921771510 scopus 로고    scopus 로고
    • Olaparib monotherapy in patients with advanced cancer and a germline BRCA1/2 mutation
    • Kaufman, B. et al. Olaparib monotherapy in patients with advanced cancer and a germline BRCA1/2 mutation. J. Clin. Oncol. 33, 244-250 (2015).
    • (2015) J. Clin. Oncol. , vol.33 , pp. 244-250
    • Kaufman, B.1
  • 72
    • 84998579448 scopus 로고    scopus 로고
    • Niraparib maintenance therapy in platinum-sensitive, recurrent ovarian cancer
    • Mirza, M. R. et al. Niraparib maintenance therapy in platinum-sensitive, recurrent ovarian cancer. N. Engl. J. Med. 375, 2154-2164 (2016).
    • (2016) N. Engl. J. Med. , vol.375 , pp. 2154-2164
    • Mirza, M.R.1
  • 73
    • 84974855064 scopus 로고    scopus 로고
    • Osimertinib (AZD9291) - A science-driven, collaborative approach to rapid drug design and development
    • Yver, A. Osimertinib (AZD9291) - a science-driven, collaborative approach to rapid drug design and development. Ann. Oncol. 27, 1165-1170 (2016).
    • (2016) Ann. Oncol. , vol.27 , pp. 1165-1170
    • Yver, A.1
  • 74
    • 84941655113 scopus 로고    scopus 로고
    • Cancer immunotherapy: Harnessing the immune system to battle cancer
    • Yang, Y. Cancer immunotherapy: harnessing the immune system to battle cancer. J. Clin. Invest. 125, 3335-3337 (2015).
    • (2015) J. Clin. Invest. , vol.125 , pp. 3335-3337
    • Yang, Y.1
  • 75
    • 84965032167 scopus 로고    scopus 로고
    • Cancer immunotherapy: The beginning of the end of cancer?
    • Farkona, S., Diamandis, E. P. &Blasutig, I. M. Cancer immunotherapy: the beginning of the end of cancer? BMC Med. 14, 73 (2016).
    • (2016) BMC Med. , vol.14 , pp. 73
    • Farkona, S.1    Diamandis, E.P.2    Blasutig, I.M.3
  • 76
    • 84989271235 scopus 로고    scopus 로고
    • The cancer vaccine resurgence
    • Mullard, A. The cancer vaccine resurgence. Nat. Rev. Drug Discov. 15, 663-665 (2016).
    • (2016) Nat. Rev. Drug Discov. , vol.15 , pp. 663-665
    • Mullard, A.1
  • 77
    • 84872841412 scopus 로고    scopus 로고
    • Tumor exome analysis reveals neoantigen-specific T-cell reactivity in an ipilimumabresponsive melanoma
    • This is the first report of T cell reactivity to tumour-specific neoantigens in human patients
    • van Rooij, N. et al. Tumor exome analysis reveals neoantigen-specific T-cell reactivity in an ipilimumabresponsive melanoma. J. Clin. Oncol. 31, e439-e442 (2013). This is the first report of T cell reactivity to tumour-specific neoantigens in human patients.
    • (2013) J. Clin. Oncol. , vol.31 , pp. e439-e442
    • Van Rooij, N.1
  • 78
    • 84918828514 scopus 로고    scopus 로고
    • Genetic basis for clinical response to CTLA-4 blockade in melanoma
    • Snyder, A. et al. Genetic basis for clinical response to CTLA-4 blockade in melanoma. N. Engl. J. Med. 371, 2189-2199 (2014).
    • (2014) N. Engl. J. Med. , vol.371 , pp. 2189-2199
    • Snyder, A.1
  • 79
    • 84961323160 scopus 로고    scopus 로고
    • High-throughput epitope discovery reveals frequent recognition of neoantigens by CD4+ T cells in human melanoma
    • Linnemann, C. et al. High-throughput epitope discovery reveals frequent recognition of neoantigens by CD4+ T cells in human melanoma. Nat. Med. 21, 81-85 (2014).
    • (2014) Nat. Med. , vol.21 , pp. 81-85
    • Linnemann, C.1
  • 80
    • 84920921528 scopus 로고    scopus 로고
    • Checkpoint blockade cancer immunotherapy targets tumour-specific mutant antigens
    • Gubin, M. M. et al. Checkpoint blockade cancer immunotherapy targets tumour-specific mutant antigens. Nature 515, 577-581 (2014).
    • (2014) Nature , vol.515 , pp. 577-581
    • Gubin, M.M.1
  • 81
    • 84928770388 scopus 로고    scopus 로고
    • Neoantigens in cancer immunotherapy
    • Schumacher, T. N. &Schreiber, R. D. Neoantigens in cancer immunotherapy. Science 348, 69-74 (2015).
    • (2015) Science , vol.348 , pp. 69-74
    • Schumacher, T.N.1    Schreiber, R.D.2
  • 82
    • 79960299888 scopus 로고    scopus 로고
    • Durable complete responses in heavily pretreated patients with metastatic melanoma using T-cell transfer immunotherapy
    • Rosenberg, S. A. et al. Durable complete responses in heavily pretreated patients with metastatic melanoma using T-cell transfer immunotherapy. Clin. Cancer Res. 17, 4550-4557 (2011).
    • (2011) Clin. Cancer Res. , vol.17 , pp. 4550-4557
    • Rosenberg, S.A.1
  • 83
    • 20244366111 scopus 로고    scopus 로고
    • Adoptive cell transfer therapy following non-myeloablative but lymphodepleting chemotherapy for the treatment of patients with refractory metastatic melanoma
    • Dudley, M. E. et al. Adoptive cell transfer therapy following non-myeloablative but lymphodepleting chemotherapy for the treatment of patients with refractory metastatic melanoma. J. Clin. Oncol. 23, 2346-2357 (2005).
    • (2005) J. Clin. Oncol. , vol.23 , pp. 2346-2357
    • Dudley, M.E.1
  • 84
    • 0037174674 scopus 로고    scopus 로고
    • Cancer regression and autoimmunity in patients after clonal repopulation with antitumor lymphocytes
    • Dudley, M. E. et al. Cancer regression and autoimmunity in patients after clonal repopulation with antitumor lymphocytes. Science 298, 850-854 (2002).
    • (2002) Science , vol.298 , pp. 850-854
    • Dudley, M.E.1
  • 85
    • 84879101382 scopus 로고    scopus 로고
    • Mutated PPP1R3B is recognized by T cells used to treat a melanoma patient who experienced a durable complete tumor regression
    • Lu, Y.-C. et al. Mutated PPP1R3B is recognized by T cells used to treat a melanoma patient who experienced a durable complete tumor regression. J. Immunol. 190, 6034-6042 (2013).
    • (2013) J. Immunol. , vol.190 , pp. 6034-6042
    • Lu, Y.-C.1
  • 86
    • 84900301377 scopus 로고    scopus 로고
    • Cancer immunotherapy based on mutation-specific CD4+ T cells in a patient with epithelial cancer
    • Tran, E. et al. Cancer immunotherapy based on mutation-specific CD4+ T cells in a patient with epithelial cancer. Science 344, 641-645 (2014).
    • (2014) Science , vol.344 , pp. 641-645
    • Tran, E.1
  • 87
    • 84941686285 scopus 로고    scopus 로고
    • CAR therapy: The CD19 paradigm
    • Sadelain, M. CAR therapy: the CD19 paradigm. J. Clin. Invest. 125, 3392-3400 (2015).
    • (2015) J. Clin. Invest. , vol.125 , pp. 3392-3400
    • Sadelain, M.1
  • 88
    • 84927130807 scopus 로고    scopus 로고
    • Immune checkpoint targeting in cancer therapy: Toward combination strategies with curative potential
    • Sharma, P. &Allison, J. P. Immune checkpoint targeting in cancer therapy: toward combination strategies with curative potential. Cell 161, 205-214 (2015).
    • (2015) Cell , vol.161 , pp. 205-214
    • Sharma, P.1    Allison, J.P.2
  • 89
    • 84880706152 scopus 로고    scopus 로고
    • Oncology meets immunology: The cancer-immunity cycle
    • Chen, D. S. &Mellman, I. Oncology meets immunology: the cancer-immunity cycle. Immunity 39, 1-10 (2013).
    • (2013) Immunity , vol.39 , pp. 1-10
    • Chen, D.S.1    Mellman, I.2
  • 90
    • 84862903106 scopus 로고    scopus 로고
    • Safety and activity of anti-PD-L1 antibody in patients with advanced cancer
    • Brahmer, J. R. et al. Safety and activity of anti-PD-L1 antibody in patients with advanced cancer. N. Engl. J. Med. 366, 2455-2465 (2012).
    • (2012) N. Engl. J. Med. , vol.366 , pp. 2455-2465
    • Brahmer, J.R.1
  • 91
    • 84923078390 scopus 로고    scopus 로고
    • MPDL3280A (anti-PD-L1) treatment leads to clinical activity in metastatic bladder cancer
    • Powles, T. et al. MPDL3280A (anti-PD-L1) treatment leads to clinical activity in metastatic bladder cancer. Nature 515, 558-562 (2014).
    • (2014) Nature , vol.515 , pp. 558-562
    • Powles, T.1
  • 92
    • 84862859820 scopus 로고    scopus 로고
    • Safety, activity, and immune correlates of anti-PD-1 antibody in cancer
    • Topalian, S. L. et al. Safety, activity, and immune correlates of anti-PD-1 antibody in cancer. N. Engl. J. Med. 366, 2443-2454 (2012).
    • (2012) N. Engl. J. Med. , vol.366 , pp. 2443-2454
    • Topalian, S.L.1
  • 93
    • 84925221855 scopus 로고    scopus 로고
    • PD-1 blockade with nivolumab in relapsed or refractory Hodgkin's lymphoma
    • Ansell, S. M. et al. PD-1 blockade with nivolumab in relapsed or refractory Hodgkin's lymphoma. N. Engl. J. Med. 372, 311-319 (2015).
    • (2015) N. Engl. J. Med. , vol.372 , pp. 311-319
    • Ansell, S.M.1
  • 94
    • 84969988424 scopus 로고    scopus 로고
    • Safety and clinical activity of pembrolizumab for treatment of recurrent or metastatic squamous cell carcinoma of the head and neck (KEYNOTE-012): An open-label, multicentre, phase 1b trial
    • Seiwert, T. Y. et al. Safety and clinical activity of pembrolizumab for treatment of recurrent or metastatic squamous cell carcinoma of the head and neck (KEYNOTE-012): an open-label, multicentre, phase 1b trial. Lancet Oncol. 17, 956-965 (2016).
    • (2016) Lancet Oncol. , vol.17 , pp. 956-965
    • Seiwert, T.Y.1
  • 95
    • 84928917822 scopus 로고    scopus 로고
    • Pooled analysis of long-term survival data from phase II and phase III trials of ipilimumab in unresectable or metastatic melanoma
    • Schadendorf, D. et al. Pooled analysis of long-term survival data from phase II and phase III trials of ipilimumab in unresectable or metastatic melanoma. J. Clin. Oncol. 33, 1889-1894 (2015).
    • (2015) J. Clin. Oncol. , vol.33 , pp. 1889-1894
    • Schadendorf, D.1
  • 96
    • 84950117835 scopus 로고    scopus 로고
    • Pembrolizumab versus docetaxel for previously treated, PD-L1-positive, advanced non-small-cell lung cancer (KEYNOTE-010): A randomised controlled trial
    • Herbst, R. S. et al. Pembrolizumab versus docetaxel for previously treated, PD-L1-positive, advanced non-small-cell lung cancer (KEYNOTE-010): a randomised controlled trial. Lancet 387, 1540-1550 (2016).
    • (2016) Lancet , vol.387 , pp. 1540-1550
    • Herbst, R.S.1
  • 97
    • 84944937210 scopus 로고    scopus 로고
    • Nivolumab versus docetaxel in advanced nonsquamous non-small-cell lung cancer
    • Borghaei, H. et al. Nivolumab versus docetaxel in advanced nonsquamous non-small-cell lung cancer. N. Engl. J. Med. 373, 1627-1639 (2015).
    • (2015) N. Engl. J. Med. , vol.373 , pp. 1627-1639
    • Borghaei, H.1
  • 98
    • 84990842182 scopus 로고    scopus 로고
    • Development of a programmed cell death ligand-1 immunohistochemical assay validated for analysis of non-small cell lung cancer and head and neck squamous cell carcinoma
    • Rebelatto, M. C. et al. Development of a programmed cell death ligand-1 immunohistochemical assay validated for analysis of non-small cell lung cancer and head and neck squamous cell carcinoma. Diagn. Pathol. 11, 95 (2016).
    • (2016) Diagn. Pathol. , vol.11 , pp. 95
    • Rebelatto, M.C.1
  • 99
    • 84989918072 scopus 로고    scopus 로고
    • Safety and efficacy of durvalumab (MEDI4736), an anti-programmed cell death ligand-1 immune checkpoint inhibitor, in patients with advanced urothelial bladder cancer
    • Massard, C. et al. Safety and efficacy of durvalumab (MEDI4736), an anti-programmed cell death ligand-1 immune checkpoint inhibitor, in patients with advanced urothelial bladder cancer. J. Clin. Oncol. 34, 3119-3125 (2016).
    • (2016) J. Clin. Oncol. , vol.34 , pp. 3119-3125
    • Massard, C.1
  • 100
    • 84959577118 scopus 로고    scopus 로고
    • Atezolizumab in patients with locally advanced and metastatic urothelial carcinoma who have progressed following treatment with platinumbased chemotherapy: A single-arm, multicentre, phase 2 trial
    • Rosenberg, J. E. et al. Atezolizumab in patients with locally advanced and metastatic urothelial carcinoma who have progressed following treatment with platinumbased chemotherapy: a single-arm, multicentre, phase 2 trial. Lancet 387, 1909-1920 (2016).
    • (2016) Lancet , vol.387 , pp. 1909-1920
    • Rosenberg, J.E.1
  • 101
    • 84858760109 scopus 로고    scopus 로고
    • Combining immunotherapy and targeted therapies in cancer treatment
    • This is an insightful review that highlights the opportunities for and potential clinical benefits of combined targeted therapies and immunotherapies in oncology precision medicine
    • Vanneman, M. &Dranoff, G. Combining immunotherapy and targeted therapies in cancer treatment. Nat. Rev. Cancer 12, 237-251 (2012). This is an insightful review that highlights the opportunities for and potential clinical benefits of combined targeted therapies and immunotherapies in oncology precision medicine.
    • (2012) Nat. Rev. Cancer , vol.12 , pp. 237-251
    • Vanneman, M.1    Dranoff, G.2
  • 102
    • 84931083080 scopus 로고    scopus 로고
    • Nivolumab versus chemotherapy in patients with advanced melanoma who progressed after anti-CTLA-4 treatment (CheckMate 037): A randomised, controlled, open-label, phase 3 trial
    • Weber, J. S. et al. Nivolumab versus chemotherapy in patients with advanced melanoma who progressed after anti-CTLA-4 treatment (CheckMate 037): a randomised, controlled, open-label, phase 3 trial. Lancet Oncol. 16, 375-384 (2015).
    • (2015) Lancet Oncol. , vol.16 , pp. 375-384
    • Weber, J.S.1
  • 103
    • 84914148032 scopus 로고    scopus 로고
    • Phase i study of nivolumab in combination with ipilimumab in metastatic renal cell carcinoma (mRCC)
    • Hammers, H. J. et al. Phase I study of nivolumab in combination with ipilimumab in metastatic renal cell carcinoma (mRCC). J. Clin. Oncol. 32, 4504-4504 (2014).
    • (2014) J. Clin. Oncol. , vol.32 , pp. 4504
    • Hammers, H.J.1
  • 104
    • 78249257291 scopus 로고    scopus 로고
    • CD4+ T cells contribute to the remodeling of the microenvironment required for sustained tumor regression upon oncogene inactivation
    • Rakhra, K. et al. CD4+ T cells contribute to the remodeling of the microenvironment required for sustained tumor regression upon oncogene inactivation. Cancer Cell 18, 485-498 (2010).
    • (2010) Cancer Cell , vol.18 , pp. 485-498
    • Rakhra, K.1
  • 105
    • 84969528858 scopus 로고    scopus 로고
    • Targeted therapy and checkpoint immunotherapy combinations for the treatment of cancer
    • Hughes, P. E., Caenepeel, S. &Wu, L. C. Targeted therapy and checkpoint immunotherapy combinations for the treatment of cancer. Trends Immunol. 37, 462-476 (2016).
    • (2016) Trends Immunol. , vol.37 , pp. 462-476
    • Hughes, P.E.1    Caenepeel, S.2    Wu, L.C.3
  • 106
    • 85015747268 scopus 로고    scopus 로고
    • Statistical controversies in clinical research: Basket trials, umbrella trials, and other master protocols: A review and examples
    • Renfro, L. A. &Sargent, D. J. Statistical controversies in clinical research: basket trials, umbrella trials, and other master protocols: a review and examples. Ann. Oncol. 28, 34-43 (2017).
    • (2017) Ann. Oncol. , vol.28 , pp. 34-43
    • Renfro, L.A.1    Sargent, D.J.2
  • 107
    • 84928789447 scopus 로고    scopus 로고
    • Personalized medicine: Time for oneperson trials
    • Schork, N. J. Personalized medicine: time for oneperson trials. Nature 520, 609-611 (2015).
    • (2015) Nature , vol.520 , pp. 609-611
    • Schork, N.J.1
  • 108
    • 85006127167 scopus 로고    scopus 로고
    • Precision medicine approach to clinical trials
    • Rubin, R. A. Precision medicine approach to clinical trials. JAMA 316, 1953-1955 (2016).
    • (2016) JAMA , vol.316 , pp. 1953-1955
    • Rubin, R.A.1
  • 109
    • 84975246805 scopus 로고    scopus 로고
    • Functional characterization of somatic mutations in cancer using network-based inference of protein activity
    • Alvarez, M. J. et al. Functional characterization of somatic mutations in cancer using network-based inference of protein activity. Nat. Genet. 48, 838-847 (2016).
    • (2016) Nat. Genet. , vol.48 , pp. 838-847
    • Alvarez, M.J.1
  • 110
    • 0025365591 scopus 로고
    • Lysosomal enzyme targeting
    • Kornfeld, S. Lysosomal enzyme targeting. Biochem. Soc. Trans. 18, 367-374 (1990).
    • (1990) Biochem. Soc. Trans. , vol.18 , pp. 367-374
    • Kornfeld, S.1
  • 111
    • 0036895451 scopus 로고    scopus 로고
    • Enzyme replacement and enhancement therapies: Lessons from lysosomal disorders
    • Desnick, R. J. &Schuchman, E. H. Enzyme replacement and enhancement therapies: lessons from lysosomal disorders. Nat. Rev. Genet. 3, 954-966 (2002).
    • (2002) Nat. Rev. Genet. , vol.3 , pp. 954-966
    • Desnick, R.J.1    Schuchman, E.H.2
  • 112
    • 73249114731 scopus 로고    scopus 로고
    • Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770
    • This study reports the in vitro mechanism of the now-approved cystic fibrosis drug ivacaftor (VX-770) that selectively targets the molecular defect underlying the G551D mutation in CFTR
    • Van Goor, F. et al. Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770. Proc. Natl Acad. Sci. USA 106, 18825-18830 (2009). This study reports the in vitro mechanism of the now-approved cystic fibrosis drug ivacaftor (VX-770) that selectively targets the molecular defect underlying the G551D mutation in CFTR.
    • (2009) Proc. Natl Acad. Sci. USA , vol.106 , pp. 18825-18830
    • Van Goor, F.1
  • 113
    • 84981742779 scopus 로고    scopus 로고
    • Treatment of Fabry's disease with the pharmacologic chaperone migalastat
    • Germain, D. P. et al. Treatment of Fabry's disease with the pharmacologic chaperone migalastat. N. Engl. J. Med. 375, 545-555 (2016).
    • (2016) N. Engl. J. Med. , vol.375 , pp. 545-555
    • Germain, D.P.1
  • 114
    • 84995530518 scopus 로고    scopus 로고
    • Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study
    • Hughes, D. A. et al. Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study. J. Med. Genet. 54, 288-296 (2016).
    • (2016) J. Med. Genet. , vol.54 , pp. 288-296
    • Hughes, D.A.1
  • 115
    • 84994853615 scopus 로고    scopus 로고
    • Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): A phase 3, randomised, double-blind, placebo-controlled study
    • This study reports clinical trial data for the use of the mTOR inhibitor everolimus in the treatment of TSC-related seizures, thus serving as an example of pathway-based treatment
    • French, J. A. et al. Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study. Lancet 388, 2153-2163 (2016). This study reports clinical trial data for the use of the mTOR inhibitor everolimus in the treatment of TSC-related seizures, thus serving as an example of pathway-based treatment.
    • (2016) Lancet , vol.388 , pp. 2153-2163
    • French, J.A.1
  • 116
    • 41549168514 scopus 로고    scopus 로고
    • Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice
    • This study describes the use of an ASO tiling method to interfere with the splicing silencers heterogeneous nuclear ribonucleoprotein A1 (HNRNPA1) and HNRNPA2 as a therapeutic mechanism for SMA and provides an example of how drugs may be designed to exert effects at the level of gene expression
    • Hua, Y., Vickers, T. A., Okunola, H. L., Bennett, C. F. &Krainer, A. R. Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice. Am. J. Hum. Genet. 82, 834-848 (2008). This study describes the use of an ASO tiling method to interfere with the splicing silencers heterogeneous nuclear ribonucleoprotein A1 (HNRNPA1) and HNRNPA2 as a therapeutic mechanism for SMA and provides an example of how drugs may be designed to exert effects at the level of gene expression.
    • (2008) Am. J. Hum. Genet. , vol.82 , pp. 834-848
    • Hua, Y.1    Vickers, T.A.2    Okunola, H.L.3    Bennett, C.F.4    Krainer, A.R.5
  • 117
    • 85012300517 scopus 로고    scopus 로고
    • Nusinersen, an antisense oligonucleotide drug for spinal muscular atrophy
    • Corey, D. R. Nusinersen, an antisense oligonucleotide drug for spinal muscular atrophy. Nat. Neurosci. 20, 497-499 (2017).
    • (2017) Nat. Neurosci. , vol.20 , pp. 497-499
    • Corey, D.R.1
  • 118
  • 119
    • 84932632449 scopus 로고    scopus 로고
    • Antiepileptic drugs - A review
    • Sankaraneni, R. &Lachhwani, D. Antiepileptic drugs - a review. Pediatr. Ann. 44, e36-e42 (2015).
    • (2015) Pediatr. Ann. , vol.44 , pp. e36-e42
    • Sankaraneni, R.1    Lachhwani, D.2
  • 120
    • 84884130368 scopus 로고    scopus 로고
    • De novo mutations in epileptic encephalopathies
    • Epi4K Consortium et al.
    • Epi4K Consortium et al. De novo mutations in epileptic encephalopathies. Nature 501, 217-221 (2013).
    • (2013) Nature , vol.501 , pp. 217-221
  • 121
    • 85015953104 scopus 로고    scopus 로고
    • De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies
    • Epilepsy Phenome/Genome Project, Epi4K Consortium &EuroEPINOMICS-RES Consortium.
    • Epilepsy Phenome/Genome Project, Epi4K Consortium &EuroEPINOMICS-RES Consortium. De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. Am. J. Hum. Genet. 100, 179 (2017).
    • (2017) Am. J. Hum. Genet. , vol.100 , pp. 179
  • 122
    • 84947046903 scopus 로고    scopus 로고
    • A roadmap for precision medicine in the epilepsies
    • EpiPM Consortium. . This article provides a conceptual framework for developing and implementing targeted therapies for epilepsy.
    • EpiPM Consortium. A roadmap for precision medicine in the epilepsies. Lancet Neurol. 14, 1219-1228 (2015). This article provides a conceptual framework for developing and implementing targeted therapies for epilepsy.
    • (2015) Lancet Neurol. , vol.14 , pp. 1219-1228
  • 123
    • 84940639930 scopus 로고    scopus 로고
    • Genetic discoveries drive molecular analyses and targeted therapeutic options in the epilepsies
    • Dhindsa, R. S. &Goldstein, D. B. Genetic discoveries drive molecular analyses and targeted therapeutic options in the epilepsies. Curr. Neurol. Neurosci. Rep. 15, 70 (2015).
    • (2015) Curr. Neurol. Neurosci. Rep. , vol.15 , pp. 70
    • Dhindsa, R.S.1    Goldstein, D.B.2
  • 124
    • 33747836278 scopus 로고    scopus 로고
    • Pharmacological activation and inhibition of Slack (Slo2.2) channels
    • Yang, B. et al. Pharmacological activation and inhibition of Slack (Slo2.2) channels. Neuropharmacology 51, 896-906 (2006).
    • (2006) Neuropharmacology , vol.51 , pp. 896-906
    • Yang, B.1
  • 125
    • 84899952041 scopus 로고    scopus 로고
    • KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine
    • Milligan, C. J. et al. KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine. Ann. Neurol. 75, 581-590 (2014).
    • (2014) Ann. Neurol. , vol.75 , pp. 581-590
    • Milligan, C.J.1
  • 126
    • 84907880048 scopus 로고    scopus 로고
    • Targeted treatment of migrating partial seizures of infancy with quinidine
    • Bearden, D. et al. Targeted treatment of migrating partial seizures of infancy with quinidine. Ann. Neurol. 76, 457-461 (2014).
    • (2014) Ann. Neurol. , vol.76 , pp. 457-461
    • Bearden, D.1
  • 127
    • 84943000123 scopus 로고    scopus 로고
    • Quinidine in the treatment of KCNT1-positive epilepsies
    • Mikati, M. A. et al. Quinidine in the treatment of KCNT1-positive epilepsies. Ann. Neurol. 78, 995-999 (2015).
    • (2015) Ann. Neurol. , vol.78 , pp. 995-999
    • Mikati, M.A.1
  • 128
    • 84916603082 scopus 로고    scopus 로고
    • GRIN2A mutation and early-onset epileptic encephalopathy: Personalized therapy with memantine
    • Pierson, T. M. et al. GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine. Ann. Clin. Transl Neurol. 1, 190-198 (2014).
    • (2014) Ann. Clin. Transl Neurol. , vol.1 , pp. 190-198
    • Pierson, T.M.1
  • 129
    • 84991716140 scopus 로고    scopus 로고
    • GRIN2D recurrent de novo dominant mutation causes a severe epileptic encephalopathy treatable with NMDA receptor channel blockers
    • Li, D. et al. GRIN2D recurrent de novo dominant mutation causes a severe epileptic encephalopathy treatable with NMDA receptor channel blockers. Am. J. Hum. Genet. 99, 802-816 (2016).
    • (2016) Am. J. Hum. Genet. , vol.99 , pp. 802-816
    • Li, D.1
  • 130
    • 0032483972 scopus 로고    scopus 로고
    • KCNQ2 and KCNQ3 potassium channel subunits: Molecular correlates of the M-channel
    • Wang, H. S. et al. KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel. Science 282, 1890-1893 (1998).
    • (1998) Science , vol.282 , pp. 1890-1893
    • Wang, H.S.1
  • 131
    • 84897970738 scopus 로고    scopus 로고
    • Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy
    • Orhan, G. et al. Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy. Ann. Neurol. 75, 382-394 (2014).
    • (2014) Ann. Neurol. , vol.75 , pp. 382-394
    • Orhan, G.1
  • 132
    • 84977664219 scopus 로고    scopus 로고
    • Retigabine, a Kv7.2/Kv7.3-channel opener, attenuates drug-induced seizures in knock-in mice harboring Kcnq2 mutations
    • Ihara, Y. et al. Retigabine, a Kv7.2/Kv7.3-channel opener, attenuates drug-induced seizures in knock-in mice harboring Kcnq2 mutations. PLoS ONE 11, e0150095 (2016).
    • (2016) PLoS ONE , vol.11 , pp. e0150095
    • Ihara, Y.1
  • 133
    • 36448983645 scopus 로고    scopus 로고
    • Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations
    • Wuttke, T. V. et al. Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations. Neurology 69, 2045-2053 (2007).
    • (2007) Neurology , vol.69 , pp. 2045-2053
    • Wuttke, T.V.1
  • 134
    • 85045788498 scopus 로고    scopus 로고
    • KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients
    • Millichap, J. J. et al. KCNQ2 encephalopathy: features, mutational hot spots, and ezogabine treatment of 11 patients. Neurol. Genet. 2, e96 (2016).
    • (2016) Neurol. Genet. , vol.2 , pp. e96
    • Millichap, J.J.1
  • 135
    • 84942076987 scopus 로고    scopus 로고
    • Genetic determinants of common epilepsies: A meta-analysis of genome-wide association studies
    • International League Against Epilepsy Consortium on Complex Epilepsies. . This meta-analysis implicates mutations in genes initially known to cause the severe, monogenic epilepsies in the more common generalized and focal epilepsies, thus serving as an example of the allelic and corresponding phenotypic heterogeneity that may render certain targeted treatments applicable to patients carrying a range of mutations in the same gene.
    • International League Against Epilepsy Consortium on Complex Epilepsies. Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies. Lancet Neurol. 13, 893-903 (2014). This meta-analysis implicates mutations in genes initially known to cause the severe, monogenic epilepsies in the more common generalized and focal epilepsies, thus serving as an example of the allelic and corresponding phenotypic heterogeneity that may render certain targeted treatments applicable to patients carrying a range of mutations in the same gene.
    • (2014) Lancet Neurol. , vol.13 , pp. 893-903
  • 136
    • 84912101541 scopus 로고    scopus 로고
    • The contribution of de novo coding mutations to autism spectrum disorder
    • Iossifov, I. et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature 515, 216-221 (2014).
    • (2014) Nature , vol.515 , pp. 216-221
    • Iossifov, I.1
  • 137
    • 84912144889 scopus 로고    scopus 로고
    • Synaptic, transcriptional and chromatin genes disrupted in autism
    • De Rubeis, S. et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature 515, 209-215 (2014).
    • (2014) Nature , vol.515 , pp. 209-215
    • De Rubeis, S.1
  • 138
    • 84879001958 scopus 로고    scopus 로고
    • De novo mutations in histonemodifying genes in congenital heart disease
    • Zaidi, S. et al. De novo mutations in histonemodifying genes in congenital heart disease. Nature 498, 220-223 (2013).
    • (2013) Nature , vol.498 , pp. 220-223
    • Zaidi, S.1
  • 139
    • 84898763352 scopus 로고    scopus 로고
    • Rare variants in NR2F2 cause congenital heart defects in humans
    • Al Turki, S. et al. Rare variants in NR2F2 cause congenital heart defects in humans. Am. J. Hum. Genet. 94, 574-585 (2014).
    • (2014) Am. J. Hum. Genet. , vol.94 , pp. 574-585
    • Al Turki, S.1
  • 140
    • 85021728012 scopus 로고    scopus 로고
    • An exome sequencing study to assess the role of rare genetic variation in pulmonary fibrosis
    • Petrovski, S. et al. An exome sequencing study to assess the role of rare genetic variation in pulmonary fibrosis. Am. J. Respir. Crit. Care Med. 196, 82-93 (2017).
    • (2017) Am. J. Respir. Crit. Care Med. , vol.196 , pp. 82-93
    • Petrovski, S.1
  • 141
    • 84992066468 scopus 로고    scopus 로고
    • Exome sequencing reveals primary immunodeficiencies in children with communityacquired Pseudomonas aeruginosa sepsis
    • Asgari, S. et al. Exome sequencing reveals primary immunodeficiencies in children with communityacquired Pseudomonas aeruginosa sepsis. Front. Immunol. 7, 357 (2016).
    • (2016) Front. Immunol. , vol.7 , pp. 357
    • Asgari, S.1
  • 142
    • 84977547054 scopus 로고    scopus 로고
    • Genetic diagnosis using whole exome sequencing in common variable immunodeficiency
    • Maffucci, P. et al. Genetic diagnosis using whole exome sequencing in common variable immunodeficiency. Front. Immunol. 7, 220 (2016).
    • (2016) Front. Immunol. , vol.7 , pp. 220
    • Maffucci, P.1
  • 143
    • 80052089944 scopus 로고    scopus 로고
    • Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency
    • Dickinson, R. E. et al. Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood 118, 2656-2658 (2011).
    • (2011) Blood , vol.118 , pp. 2656-2658
    • Dickinson, R.E.1
  • 144
    • 85012918562 scopus 로고    scopus 로고
    • Rare and low-frequency coding variants alter human adult height
    • Marouli, E. et al. Rare and low-frequency coding variants alter human adult height. Nature 542, 186-190 (2017).
    • (2017) Nature , vol.542 , pp. 186-190
    • Marouli, E.1
  • 145
    • 84930090376 scopus 로고    scopus 로고
    • The impact of low-frequency and rare variants on lipid levels
    • Surakka, I. et al. The impact of low-frequency and rare variants on lipid levels. Nat. Genet. 47, 589-597 (2015).
    • (2015) Nat. Genet. , vol.47 , pp. 589-597
    • Surakka, I.1
  • 146
    • 84987670072 scopus 로고    scopus 로고
    • Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension
    • Surendran, P. et al. Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension. Nat. Genet. 48, 1151-1161 (2016).
    • (2016) Nat. Genet. , vol.48 , pp. 1151-1161
    • Surendran, P.1
  • 147
    • 84990925109 scopus 로고    scopus 로고
    • Common molecular pathways in amyotrophic lateral sclerosis and frontotemporal dementia
    • This review summarizes findings from amyotrophic lateral sclerosis genetic studies and the convergence of implicated genes into functional pathways, thus underscoring the potential utility of these disease-associated pathways as therapeutic targets
    • Weishaupt, J. H., Hyman, T. &Dikic, I. Common molecular pathways in amyotrophic lateral sclerosis and frontotemporal dementia. Trends Mol. Med. 22, 769-783 (2016). This review summarizes findings from amyotrophic lateral sclerosis genetic studies and the convergence of implicated genes into functional pathways, thus underscoring the potential utility of these disease-associated pathways as therapeutic targets.
    • (2016) Trends Mol. Med. , vol.22 , pp. 769-783
    • Weishaupt, J.H.1    Hyman, T.2    Dikic, I.3
  • 148
    • 84924760015 scopus 로고    scopus 로고
    • Olaparib combined with chemotherapy for recurrent platinum-sensitive ovarian cancer: A randomised phase 2 trial
    • Oza, A. M. et al. Olaparib combined with chemotherapy for recurrent platinum-sensitive ovarian cancer: a randomised phase 2 trial. Lancet Oncol. 16, 87-97 (2015).
    • (2015) Lancet Oncol. , vol.16 , pp. 87-97
    • Oza, A.M.1
  • 149
    • 0035089781 scopus 로고    scopus 로고
    • Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein
    • Brunkow, M. E. et al. Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein. Am. J. Hum. Genet. 68, 577-589 (2001).
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 577-589
    • Brunkow, M.E.1
  • 150
    • 10744221383 scopus 로고    scopus 로고
    • Osteocyte control of bone formation via sclerostin, a novel BMP antagonist
    • Winkler, D. G. et al. Osteocyte control of bone formation via sclerostin, a novel BMP antagonist. EMBO J. 22, 6267-6276 (2003).
    • (2003) EMBO J. , vol.22 , pp. 6267-6276
    • Winkler, D.G.1
  • 151
    • 78650958526 scopus 로고    scopus 로고
    • Single-dose, placebo-controlled, randomized study of AMG 785, a sclerostin monoclonal antibody
    • Padhi, D., Jang, G., Stouch, B., Fang, L. &Posvar, E. Single-dose, placebo-controlled, randomized study of AMG 785, a sclerostin monoclonal antibody. J. Bone Miner. Res. 26, 19-26 (2011).
    • (2011) J. Bone Miner. Res. , vol.26 , pp. 19-26
    • Padhi, D.1    Jang, G.2    Stouch, B.3    Fang, L.4    Posvar, E.5
  • 152
    • 84893044528 scopus 로고    scopus 로고
    • Romosozumab in postmenopausal women with low bone mineral density
    • McClung, M. R. et al. Romosozumab in postmenopausal women with low bone mineral density. N. Engl. J. Med. 370, 412-420 (2014).
    • (2014) N. Engl. J. Med. , vol.370 , pp. 412-420
    • McClung, M.R.1
  • 153
    • 84992145944 scopus 로고    scopus 로고
    • Romosozumab treatment in postmenopausal women with osteoporosis
    • Cosman, F. et al. Romosozumab treatment in postmenopausal women with osteoporosis. N. Engl. J. Med. 375, 1532-1543 (2016).
    • (2016) N. Engl. J. Med. , vol.375 , pp. 1532-1543
    • Cosman, F.1
  • 154
    • 12144288410 scopus 로고    scopus 로고
    • Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia
    • Yang, Y. et al. Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. J. Med. Genet. 41, 171-174 (2004).
    • (2004) J. Med. Genet. , vol.41 , pp. 171-174
    • Yang, Y.1
  • 155
    • 33847168937 scopus 로고    scopus 로고
    • SCN9A mutations in paroxysmal extreme pain disorder: Allelic variants underlie distinct channel defects and phenotypes
    • Fertleman, C. R. et al. SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes. Neuron 52, 767-774 (2006).
    • (2006) Neuron , vol.52 , pp. 767-774
    • Fertleman, C.R.1
  • 156
    • 33845901486 scopus 로고    scopus 로고
    • An SCN9A channelopathy causes congenital inability to experience pain
    • Cox, J. J. et al. An SCN9A channelopathy causes congenital inability to experience pain. Nature 444, 894-898 (2006).
    • (2006) Nature , vol.444 , pp. 894-898
    • Cox, J.J.1
  • 157
    • 77950429077 scopus 로고    scopus 로고
    • Pain perception is altered by a nucleotide polymorphism in SCN9A
    • Reimann, F. et al. Pain perception is altered by a nucleotide polymorphism in SCN9A. Proc. Natl Acad. Sci. USA 107, 5148-5153 (2010).
    • (2010) Proc. Natl Acad. Sci. USA , vol.107 , pp. 5148-5153
    • Reimann, F.1
  • 158
    • 84872839524 scopus 로고    scopus 로고
    • A single-nucleotide polymorphism in SCN9A may decrease postoperative pain sensitivity in the general population
    • Duan, G. et al. A single-nucleotide polymorphism in SCN9A may decrease postoperative pain sensitivity in the general population. Anesthesiology 118, 436-442 (2013).
    • (2013) Anesthesiology , vol.118 , pp. 436-442
    • Duan, G.1


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