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Volumn 74, Issue 9, 2014, Pages 2545-2554

Comparative functional analysis of dpyd variants of potential clinical relevance to dihydropyrimidine dehydrogenase activity

Author keywords

[No Author keywords available]

Indexed keywords

DIHYDROFLUOROURACIL; DIHYDROPYRIMIDINE DEHYDROGENASE; FLUOROURACIL;

EID: 84900017007     PISSN: 00085472     EISSN: 15387445     Source Type: Journal    
DOI: 10.1158/0008-5472.CAN-13-2482     Document Type: Article
Times cited : (149)

References (38)
  • 1
    • 0028813120 scopus 로고
    • Human polymorphism in drug metabolism: Mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine uracilurea
    • Meinsma R, Fernandez-Salguero P, Van Kuilenburg AB, Van Gennip AH, Gonzalez FJ. Human polymorphism in drug metabolism: mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine uracilurea. DNA Cell Biol 1995;14:1-6
    • (1995) DNA Cell Biol , vol.14 , pp. 1-6
    • Meinsma, R.1    Fernandez-Salguero, P.2    Van Kuilenburg, A.B.3    Van Gennip, A.H.4    Gonzalez, F.J.5
  • 2
    • 84857074749 scopus 로고    scopus 로고
    • Evaluation of 5-fluorouracil pharmacokinetics in cancer patients with a c.1905+1G>A mutation in DPYD by means of a Bayesian limited sampling strategy
    • van Kuilenburg AB, Hausler P, Schalhorn A, Tanck MW, Proost JH, Terborg C, et al. Evaluation of 5-fluorouracil pharmacokinetics in cancer patients with a c.1905+1G>A mutation in DPYD by means of a Bayesian limited sampling strategy. Clin Pharmacokinet 2012;51: 163-74
    • (2012) Clin Pharmacokinet , vol.51 , pp. 163-174
    • Van Kuilenburg, A.B.1    Hausler, P.2    Schalhorn, A.3    Tanck, M.W.4    Proost, J.H.5    Terborg, C.6
  • 3
    • 0032795865 scopus 로고    scopus 로고
    • Life-threatening toxicity in a dihydropyrimidine dehydrogenase-deficient patient after treatment with topical 5-fluorouracil
    • Johnson MR, Hageboutros A, Wang K, High L, Smith JB, Diasio RB. Life-threatening toxicity in a dihydropyrimidine dehydrogenase-deficient patient after treatment with topical 5-fluorouracil. Clin Cancer Res 1999;5:2006-11
    • (1999) Clin Cancer Res , vol.5 , pp. 2006-2011
    • Johnson, M.R.1    Hageboutros, A.2    Wang, K.3    High, L.4    Smith, J.B.5    Diasio, R.B.6
  • 4
    • 43749114271 scopus 로고    scopus 로고
    • Role of genetic and nongenetic factors for fluorouracil treatment- related severe toxicity: A prospective clinical trial by the German 5-FU toxicity study group
    • Schwab M, Zanger UM, Marx C, Schaeffeler E, Klein K, Dippon J, et al. Role of genetic and nongenetic factors for fluorouracil treatment- related severe toxicity: a prospective clinical trial by the German 5-FU Toxicity Study Group. J Clin Oncol 2008;26:2131-8
    • (2008) J Clin Oncol , vol.26 , pp. 2131-2138
    • Schwab, M.1    Zanger, U.M.2    Marx, C.3    Schaeffeler, E.4    Klein, K.5    Dippon, J.6
  • 5
    • 84879413456 scopus 로고    scopus 로고
    • A DPYD variant (Y186C) in individuals of african ancestry is associated with reduced dpd enzyme activity
    • Offer SM, Lee AM, Mattison LK, Fossum C, Wegner NJ, Diasio RB. A DPYD variant (Y186C) in individuals of African Ancestry is associated with reduced DPD enzyme activity. Clin Pharmacol Ther 2013;94: 158-66
    • (2013) Clin Pharmacol Ther , vol.94 , pp. 158-166
    • Offer, S.M.1    Lee, A.M.2    Mattison, L.K.3    Fossum, C.4    Wegner, N.J.5    Diasio, R.B.6
  • 6
    • 0036303541 scopus 로고    scopus 로고
    • Profound dihydropyrimidine dehydrogenase deficiency resulting from a novel compound heterozygote genotype
    • Johnson MR, Wang K, Diasio RB. Profound dihydropyrimidine dehydrogenase deficiency resulting from a novel compound heterozygote genotype. Clin Cancer Res 2002;8:768-74
    • (2002) Clin Cancer Res , vol.8 , pp. 768-774
    • Johnson, M.R.1    Wang, K.2    Diasio, R.B.3
  • 7
    • 33845219798 scopus 로고    scopus 로고
    • Clinical relevance of different dihydropyrimidine dehydrogenase gene single nucleotide polymorphisms on 5-fluorouracil tolerance
    • Morel A, Boisdron-Celle M, Fey L, Soulie P, Craipeau MC, Traore S, et al. Clinical relevance of different dihydropyrimidine dehydrogenase gene single nucleotide polymorphisms on 5-fluorouracil tolerance. Mol Cancer Ther 2006;5:2895-904
    • (2006) Mol Cancer Ther , vol.5 , pp. 2895-2904
    • Morel, A.1    Boisdron-Celle, M.2    Fey, L.3    Soulie, P.4    Craipeau, M.C.5    Traore, S.6
  • 8
    • 84900032147 scopus 로고    scopus 로고
    • Available from, Exome Variant Server, (EVS data release ESP6500SI-V2), [cited Apr 25]
    • Exome Variant Server. Seattle (WA): NHLBI GO Exome Sequencing Project (ESP). (EVS data release ESP6500SI-V2). [cited 2013 Apr 25]; Available from: http://evs.gs.washington.edu/EVS/
    • (2013) Seattle (WA): NHLBI GO Exome Sequencing Project (ESP)
  • 9
    • 84899998831 scopus 로고    scopus 로고
    • The 1000 Genomes Browser, (1000 Genomes release 13). [cited 2013 Apr 25] Available from
    • The 1000 Genomes Browser. Hinxton, Cambridgeshire (UK): The European Bioinformatics Institute (EBI). (1000 Genomes release 13). [cited 2013 Apr 25]; Available from: http://browser.1000genomes.org/index.html.
    • Hinxton, Cambridgeshire (UK): The European Bioinformatics Institute (EBI)
  • 10
    • 58049196845 scopus 로고    scopus 로고
    • Strong association of a common dihydropyrimidine dehydrogenase gene polymorphism with fluoropyrimidine-related toxicity in cancer patients
    • Gross E, Busse B, Riemenschneider M, Neubauer S, Seck K, Klein HG, et al. Strong association of a common dihydropyrimidine dehydrogenase gene polymorphism with fluoropyrimidine-related toxicity in cancer patients. PLoS one 2008;3:e4003
    • (2008) PLoS One , vol.3
    • Gross, E.1    Busse, B.2    Riemenschneider, M.3    Neubauer, S.4    Seck, K.5    Klein, H.G.6
  • 11
    • 69049114190 scopus 로고    scopus 로고
    • Dihydropyrimidine dehydrogenase gene variation and severe 5-fluorouracil toxicity: A haplotype assessment
    • Amstutz U, Farese S, Aebi S, Largiader CR. Dihydropyrimidine dehydrogenase gene variation and severe 5-fluorouracil toxicity: a haplotype assessment. Pharmacogenomics 2009;10:931-44
    • (2009) Pharmacogenomics , vol.10 , pp. 931-944
    • Amstutz, U.1    Farese, S.2    Aebi, S.3    Largiader, C.R.4
  • 12
    • 67349223302 scopus 로고    scopus 로고
    • Influence of dihydropyrimidine dehydrogenase gene (DPYD) coding sequence variants on the development of fluoropyrimidinerelated toxicity in patients with high-grade toxicity and patients with excellent tolerance of fluoropyrimidine-based chemotherapy
    • Kleibl Z, Fidlerova J, Kleiblova P, Kormunda S, Bilek M, Bouskova K, et al. Influence of dihydropyrimidine dehydrogenase gene (DPYD) coding sequence variants on the development of fluoropyrimidinerelated toxicity in patients with high-grade toxicity and patients with excellent tolerance of fluoropyrimidine-based chemotherapy. Neoplasma 2009;56:303-16
    • (2009) Neoplasma , vol.56 , pp. 303-316
    • Kleibl, Z.1    Fidlerova, J.2    Kleiblova, P.3    Kormunda, S.4    Bilek, M.5    Bouskova, K.6
  • 13
    • 84875421741 scopus 로고    scopus 로고
    • Phenotypic profiling of DPYD variations relevant to 5-fluorouracil sensitivity using real-time cellular analysis and in vitro measurement of enzyme activity
    • Offer SM, Wegner NJ, Fossum C, Wang K, Diasio RB. Phenotypic profiling of DPYD variations relevant to 5-fluorouracil sensitivity using real-time cellular analysis and in vitro measurement of enzyme activity. Cancer Res 2013;73:1958-68
    • (2013) Cancer Res , vol.73 , pp. 1958-1968
    • Offer, S.M.1    Wegner, N.J.2    Fossum, C.3    Wang, K.4    Diasio, R.B.5
  • 14
    • 84855925793 scopus 로고    scopus 로고
    • Database of Single Nucleotide Polymorphisms (dbSNP), (dbSNP Build ID: 138). [cited Apr 25] Available from
    • Database of Single Nucleotide Polymorphisms (dbSNP). Bethesda (MD): National Center for Biotechnology Information, National Library of Medicine. (dbSNP Build ID: 138). [cited 2013 Apr 25]; Available from: http://www.ncbi.nlm. nih.gov/projects/SNP/snp-ref.cgi?showRare=on&chooseRs=coding&go= Go&locusId=1806.
    • (2013) Bethesda (MD): National Center for Biotechnology Information, National Library of Medicine
  • 16
    • 84878799611 scopus 로고    scopus 로고
    • Predicting functional effect of human missense mutations using polyphen-2
    • Chapter 7:Unit7
    • Adzhubei I, Jordan DM, Sunyaev SR. Predicting functional effect of human missense mutations using PolyPhen-2. Curr ProtocHumGenet 2013;Chapter 7:Unit7 20
    • (2013) Curr ProtocHumGenet , pp. 20
    • Adzhubei, I.1    Jordan, D.M.2    Sunyaev, S.R.3
  • 17
    • 84867301515 scopus 로고    scopus 로고
    • Predicting the functional effect of amino acid substitutions and indels
    • Choi Y, Sims GE, Murphy S, Miller JR, Chan AP. Predicting the functional effect of amino acid substitutions and indels. PLoS One 2012;7:e46688
    • (2012) PLoS One , vol.7
    • Choi, Y.1    Sims, G.E.2    Murphy, S.3    Miller, J.R.4    Chan, A.P.5
  • 18
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding nonsynonymous variants on protein function using the SIFT algorithm
    • Kumar P, Henikoff S, Ng PC. Predicting the effects of coding nonsynonymous variants on protein function using the SIFT algorithm. Nat protoc 2009;4:1073-81
    • (2009) Nat Protoc , vol.4 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 19
    • 34547100092 scopus 로고    scopus 로고
    • SNAP: Predict effect of non-synonymous polymorphisms on function
    • Bromberg Y, Rost B. SNAP: predict effect of non-synonymous polymorphisms on function. Nucleic Acids Res 2007;35:3823-35
    • (2007) Nucleic Acids Res , vol.35 , pp. 3823-3835
    • Bromberg, Y.1    Rost, B.2
  • 21
    • 0027136282 scopus 로고
    • Comparative protein modelling by satisfaction of spatial restraints
    • Sali A, Blundell TL. Comparative protein modelling by satisfaction of spatial restraints. J Mol Biol 1993;234:779-815
    • (1993) J Mol Biol , vol.234 , pp. 779-815
    • Sali, A.1    Blundell, T.L.2
  • 22
    • 84900033389 scopus 로고    scopus 로고
    • Catalogue of Somatic Mutations in Cancer (COSMIC). Hinxton, Cambridgeshire (UK): Cancer Genome Project, Wellcome Trust Sanger Institute. (COSMIC v64 release). [cited Apr 25] Available from
    • Catalogue of Somatic Mutations in Cancer (COSMIC). Hinxton, Cambridgeshire (UK): Cancer Genome Project, Wellcome Trust Sanger Institute. (COSMIC v64 release). [cited 2013 Apr 25]; Available from: http://cancer.sanger. ac.uk/cancergenome/projects/cosmic/.
    • (2013) Hinxton, Cambridgeshire (UK): Cancer Genome Project, Wellcome Trust Sanger Institute
  • 23
  • 24
    • 79959838081 scopus 로고    scopus 로고
    • Integrated genomic analyses of ovarian carcinoma
    • Cancer Genome Atlas Research Network.
    • Cancer Genome Atlas Research Network. Integrated genomic analyses of ovarian carcinoma. Nature 2011;474:609-15
    • (2011) Nature , vol.474 , pp. 609-615
  • 25
    • 0037066711 scopus 로고    scopus 로고
    • Crystal structure of the productive ternary complex of dihydropyrimidine dehydrogenase with NADPH and 5-iodouracil. Implications for mechanism of inhibition and electron transfer
    • Dobritzsch D, Ricagno S, Schneider G, Schnackerz KD, Lindqvist Y. Crystal structure of the productive ternary complex of dihydropyrimidine dehydrogenase with NADPH and 5-iodouracil. Implications for mechanism of inhibition and electron transfer. J Biol Chem 2002;277: 13155-66
    • (2002) J Biol Chem , vol.277 , pp. 13155-13166
    • Dobritzsch, D.1    Ricagno, S.2    Schneider, G.3    Schnackerz, K.D.4    Lindqvist, Y.5
  • 26
    • 0035865277 scopus 로고    scopus 로고
    • Crystal structure of dihydropyrimidine dehydrogenase a major determinant of the pharmacokinetics of the anti-cancer drug 5-fluorouracil
    • Dobritzsch D, Schneider G, Schnackerz KD, Lindqvist Y. Crystal structure of dihydropyrimidine dehydrogenase, a major determinant of the pharmacokinetics of the anti-cancer drug 5-fluorouracil.EMBOJ 2001;20:650-60
    • (2001) EMBOJ , vol.20 , pp. 650-660
    • Dobritzsch, D.1    Schneider, G.2    Schnackerz, K.D.3    Lindqvist, Y.4
  • 27
    • 0034488052 scopus 로고    scopus 로고
    • Clinical implications of dihydropyrimidine dehydrogenase (DPD) deficiency in patients with severe 5-fluorouracilassociated toxicity: Identification of new mutations in the DPD gene
    • van Kuilenburg AB, Haasjes J, Richel DJ, Zoetekouw L, Van Lenthe H, De Abreu RA, et al. Clinical implications of dihydropyrimidine dehydrogenase (DPD) deficiency in patients with severe 5-fluorouracilassociated toxicity: identification of new mutations in the DPD gene. Clin Cancer Res 2000;6:4705-12
    • (2000) Clin Cancer Res , vol.6 , pp. 4705-4712
    • Van Kuilenburg, A.B.1    Haasjes, J.2    Richel, D.J.3    Zoetekouw, L.4    Van Lenthe, H.5    De Abreu, R.A.6
  • 28
    • 79955998006 scopus 로고    scopus 로고
    • Relationship between single nucleotide polymorphisms and haplotypes in DPYD and toxicity and efficacy of capecitabine in advanced colorectal cancer
    • Deenen MJ, Tol J, Burylo AM, Doodeman VD, de Boer A, Vincent A, et al. Relationship between single nucleotide polymorphisms and haplotypes in DPYD and toxicity and efficacy of capecitabine in advanced colorectal cancer. Clin Cancer Res 2011;17:3455-68
    • (2011) Clin Cancer Res , vol.17 , pp. 3455-3468
    • Deenen, M.J.1    Tol, J.2    Burylo, A.M.3    Doodeman, V.D.4    De Boer, A.5    Vincent, A.6
  • 30
    • 0037093447 scopus 로고    scopus 로고
    • Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure
    • van Kuilenburg AB, Dobritzsch D, Meinsma R, Haasjes J, Waterham HR, Nowaczyk MJ, et al. Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure. Biochem J 2002;364:157-63
    • (2002) Biochem J , vol.364 , pp. 157-163
    • Van Kuilenburg, A.B.1    Dobritzsch, D.2    Meinsma, R.3    Haasjes, J.4    Waterham, H.R.5    Nowaczyk, M.J.6
  • 31
    • 0032422075 scopus 로고    scopus 로고
    • Identification of novel mutations in the dihydropyrimidine dehydrogenase gene in a Japanese patient with 5-fluorouracil toxicity
    • Kouwaki M, Hamajima N, Sumi S, Nonaka M, Sasaki M, Dobashi K, et al. Identification of novel mutations in the dihydropyrimidine dehydrogenase gene in a Japanese patient with 5-fluorouracil toxicity. Clin Cancer Res 1998;4:2999-3004
    • (1998) Clin Cancer Res , vol.4 , pp. 2999-3004
    • Kouwaki, M.1    Hamajima, N.2    Sumi, S.3    Nonaka, M.4    Sasaki, M.5    Dobashi, K.6
  • 32
    • 34248157706 scopus 로고    scopus 로고
    • Thymidylate synthase (TYMS) and dihydropyrimidine dehydrogenase (DPYD) polymorphisms in the Korean population for prediction of 5-fluorouracil- associated toxicity
    • Cho HJ, Park YS, Kang WK, Kim JW, Lee SY. Thymidylate synthase (TYMS) and dihydropyrimidine dehydrogenase (DPYD) polymorphisms in the Korean population for prediction of 5-fluorouracil-associated toxicity. Ther Drug Monit 2007;29:190-6
    • (2007) Ther Drug Monit , vol.29 , pp. 190-196
    • Cho, H.J.1    Park, Y.S.2    Kang, W.K.3    Kim, J.W.4    Lee, S.Y.5
  • 33
    • 0345700864 scopus 로고    scopus 로고
    • Lethal 5- fluorouracil toxicity associated with a novel mutation in the dihydropyrimidine dehydrogenase gene
    • van Kuilenburg AB, Baars JW, Meinsma R, van Gennip AH. Lethal 5- fluorouracil toxicity associated with a novel mutation in the dihydropyrimidine dehydrogenase gene. Ann Oncol 2003;14:341-2
    • (2003) Ann Oncol , vol.14 , pp. 341-342
    • Van Kuilenburg, A.B.1    Baars, J.W.2    Meinsma, R.3    Van Gennip, A.H.4
  • 34
    • 0031462149 scopus 로고    scopus 로고
    • Dihydropyrimidine dehydrogenase (DPD) deficiency: Identification and expression of missense mutations C29R R886H and R235W
    • Vreken P, Van Kuilenburg AB, Meinsma R, van Gennip AH. Dihydropyrimidine dehydrogenase (DPD) deficiency: identification and expression of missense mutations C29R, R886H and R235W. Hum Genet 1997;101:333-8
    • (1997) Hum Genet , vol.101 , pp. 333-338
    • Vreken, P.1    Van Kuilenburg, A.B.2    Meinsma, R.3    Van Gennip, A.H.4
  • 35
    • 0031807488 scopus 로고    scopus 로고
    • Dihydropyrimidine dehydrogenase deficiency. Identification of two novel mutations and expression of missense mutations in e
    • Vreken P, van Kuilenburg AB, Meinsma R, van Gennip AH. Dihydropyrimidine dehydrogenase deficiency. Identification of two novel mutations and expression of missense mutations in E. coli. Adv Exp Med Biol 1998;431:341-6
    • (1998) Coli. Adv Exp Med Biol , vol.431 , pp. 341-346
    • Vreken, P.1    Van Kuilenburg, A.B.2    Meinsma, R.3    Van Gennip, A.H.4
  • 36
    • 84893786065 scopus 로고    scopus 로고
    • Response to "a case of 5-fu-related severe toxicity associated with the P.Y186C DPYD variant"
    • Offer SM, Diasio RB. Response to "A Case of 5-FU-Related Severe Toxicity Associated With the P.Y186C DPYD Variant." Clin Pharmacol Ther 2014;95:137
    • (2014) Clin Pharmacol Ther , vol.95 , pp. 137
    • Offer, S.M.1    Diasio, R.B.2
  • 37
    • 1642381839 scopus 로고    scopus 로고
    • Tyrosine-to-cysteine modification of human alphasynuclein enhances protein aggregation and cellular toxicity
    • Zhou W, Freed CR. Tyrosine-to-cysteine modification of human alphasynuclein enhances protein aggregation and cellular toxicity. J Biol Chem 2004;279:10128-35
    • (2004) J Biol Chem , vol.279 , pp. 10128-10135
    • Zhou, W.1    Freed, C.R.2
  • 38
    • 84888012165 scopus 로고    scopus 로고
    • Clinical pharmacogenetics implementation consortium guidelines for dihydropyrimidine dehydrogenase genotype and fluoropyrimidine dosing
    • Caudle KE, Thorn CF, Klein TE, Swen JJ, McLeod HL, Diasio RB, et al. Clinical pharmacogenetics implementation consortium guidelines for dihydropyrimidine dehydrogenase genotype and fluoropyrimidine dosing. Clin Pharmacol Ther 2013;94:640-5.
    • (2013) Clin Pharmacol Ther , vol.94 , pp. 640-645
    • Caudle, K.E.1    Thorn, C.F.2    Klein, T.E.3    Swen, J.J.4    McLeod, H.L.5    Diasio, R.B.6


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