Severe Capecitabine Toxicity Associated With a Rare DPYD Variant Identified Through Whole-Genome Sequencing

被引：15
|
作者：
Ly, Reynold C. [1 ]
Schmidt, Remington E. [2 ]
Kiel, Patrick J. [1 ]
Pratt, Victoria M. [3 ]
Schneider, Bryan P. [4 ]
Radovich, Milan [4 ]
Offer, Steven M. [2 ]
Diasio, Robert B. [2 ]
Skaar, Todd C. [1 ]
机构：
[1] Indiana Univ Sch Med, Dept Med, Div Clin Pharmacol, Res 2 Bldg,Ste 419,950 W West Walnut St, Indianapolis, IN 46202 USA
[2] Mayo Clin, Dept Mol Pharmacol & Expt Therapeut, Rochester, MN USA
[3] Indiana Univ Sch Med, Dept Med & Mol Genet, Indianapolis, IN 46202 USA
[4] Indiana Univ Sch Med, Div Hematol Oncol, Indianapolis, IN 46202 USA
来源：
JCO PRECISION ONCOLOGY | 2020年 / 4卷
基金：
美国国家卫生研究院;
关键词：
D O I：
10.1200/PO.20.00067
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
[No abstract available]
引用
收藏
页码：632 / 638
页数：7
相关论文
共 50 条
  • [41] Whole-Genome sequencing and genetic variant analysis of a quarter Horse mare
    Ryan Doan
    Noah D Cohen
    Jason Sawyer
    Noushin Ghaffari
    Charles D Johnson
    Scott V Dindot
    BMC Genomics, 13
  • [42] Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites
    Tao Long
    Michael Hicks
    Hung-Chun Yu
    William H Biggs
    Ewen F Kirkness
    Cristina Menni
    Jonas Zierer
    Kerrin S Small
    Massimo Mangino
    Helen Messier
    Suzanne Brewerton
    Yaron Turpaz
    Brad A Perkins
    Anne M Evans
    Luke A D Miller
    Lining Guo
    C Thomas Caskey
    Nicholas J Schork
    Chad Garner
    Tim D Spector
    J Craig Venter
    Amalio Telenti
    Nature Genetics, 2017, 49 : 568 - 578
  • [43] Tumor associated copy number changes identified by whole-genome sequencing in the circulation of patients with prostate cancer
    Heitzer, E.
    Ulz, P.
    Belic, J.
    Gutschi, S.
    Quehenberger, F.
    Auer, M.
    Augustin, H.
    Hoefler, G.
    Geigl, J. B.
    Speicher, M. R.
    EUROPEAN JOURNAL OF CANCER, 2013, 49 : S98 - S98
  • [44] WHOLE-GENOME SEQUENCING OF AFRICAN AMERICANS IDENTIFIES NOVEL RARE VARIANTS ASSOCIATED WITH INFLAMMATORY BOWEL
    Somineni, Hari K.
    Haritunians, Talin
    Simpson, Claire L.
    Cutler, David J.
    Okou, David
    Itan, Yuval
    Venkateswaran, Suresh
    Stevens, Christine
    Datta, Lisa W.
    Dhere, Tanvi A.
    Lazarev, Mark
    Zwick, Michael E.
    Cho, Judy H.
    Daly, Mark J.
    McGovern, Dermot
    Brant, Steven R.
    Kugathasan, Subra
    GASTROENTEROLOGY, 2019, 156 (06) : S488 - S489
  • [45] Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites
    Long, Tao
    Hicks, Michael
    Yu, Hung-Chun
    Biggs, William H.
    Kirkness, Ewen F.
    Menni, Cristina
    Zierer, Jonas
    Small, Kerrin S.
    Mangino, Massimo
    Messier, Helen
    Brewerton, Suzanne
    Turpaz, Yaron
    Perkins, Brad A.
    Evans, Anne M.
    Miller, Luke A. D.
    Guo, Lining
    Caskey, C. Thomas
    Schork, Nicholas J.
    Garner, Chad
    Spector, Tim D.
    Venter, J. Craig
    Telenti, Amalio
    NATURE GENETICS, 2017, 49 (04) : 568 - +
  • [46] A Novel DPYD Variant Associated With Severe Toxicity of Fluoropyrimidines: Role of Pre-emptive DPYD Genotype Screening
    Tong, Chi C.
    Lam, Ching W.
    Lam, Ka O.
    Lee, Victor H. F.
    Luk, Mai-Yee
    FRONTIERS IN ONCOLOGY, 2018, 8
  • [47] Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
    Carss, Keren J.
    Arno, Gavin
    Erwood, Marie
    Stephens, Jonathan
    Sanchis-Juan, Alba
    Hull, Sarah
    Megy, Karyn
    Grozeva, Detelina
    Dewhurst, Eleanor
    Malka, Samantha
    Plagnol, Vincent
    Penkett, Christopher
    Stirrups, Kathleen
    Rizzo, Roberta
    Wright, Genevieve
    Josifova, Dragana
    Bitner-Glindzicz, Maria
    Scott, Richard H.
    Clement, Emma
    Allen, Louise
    Armstrong, Ruth
    Brady, Angela F.
    Carmichael, Jenny
    Chitre, Manali
    Henderson, Robert H. H.
    Hurst, Jane
    MacLaren, Robert E.
    Murphy, Elaine
    Paterson, Joan
    Rosser, Elisabeth
    Thompson, Dorothy A.
    Wakeling, Emma
    Ouwehand, Willem H.
    Michaelides, Michel
    Moore, Anthony T.
    Webster, Andrew R.
    Raymond, F. Lucy
    AMERICAN JOURNAL OF HUMAN GENETICS, 2017, 100 (01) : 75 - 90
  • [48] A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies
    Li, Zilin
    Li, Xihao
    Zhou, Hufeng
    Gaynor, Sheila M.
    Selvaraj, Margaret Sunitha
    Arapoglou, Theodore
    Quick, Corbin
    Liu, Yaowu
    Chen, Han
    Sun, Ryan
    Dey, Rounak
    Arnett, Donna K.
    Auer, Paul L.
    Bielak, Lawrence F.
    Bis, Joshua C.
    Blackwell, Thomas W.
    Blangero, John
    Boerwinkle, Eric
    Bowden, Donald W.
    Brody, Jennifer A.
    Cade, Brian E.
    Conomos, Matthew P.
    Correa, Adolfo
    Cupples, L. Adrienne
    Curran, Joanne E.
    de Vries, Paul S.
    Duggirala, Ravindranath
    Franceschini, Nora
    Freedman, Barry, I
    Goring, Harald H. H.
    Guo, Xiuqing
    Kalyani, Rita R.
    Kooperberg, Charles
    Kral, Brian G.
    Lange, Leslie A.
    Lin, Bridget M.
    Manichaikul, Ani
    Manning, Alisa K.
    Martin, Lisa W.
    Mathias, Rasika A.
    Meigs, James B.
    Mitchell, Braxton D.
    Montasser, May E.
    Morrison, Alanna C.
    Naseri, Take
    O'Connell, Jeffrey R.
    Palmer, Nicholette D.
    Peyser, Patricia A.
    Psaty, Bruce M.
    Raffield, Laura M.
    NATURE METHODS, 2022, 19 (12) : 1599 - +
  • [49] A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies
    Zilin Li
    Xihao Li
    Hufeng Zhou
    Sheila M. Gaynor
    Margaret Sunitha Selvaraj
    Theodore Arapoglou
    Corbin Quick
    Yaowu Liu
    Han Chen
    Ryan Sun
    Rounak Dey
    Donna K. Arnett
    Paul L. Auer
    Lawrence F. Bielak
    Joshua C. Bis
    Thomas W. Blackwell
    John Blangero
    Eric Boerwinkle
    Donald W. Bowden
    Jennifer A. Brody
    Brian E. Cade
    Matthew P. Conomos
    Adolfo Correa
    L. Adrienne Cupples
    Joanne E. Curran
    Paul S. de Vries
    Ravindranath Duggirala
    Nora Franceschini
    Barry I. Freedman
    Harald H. H. Göring
    Xiuqing Guo
    Rita R. Kalyani
    Charles Kooperberg
    Brian G. Kral
    Leslie A. Lange
    Bridget M. Lin
    Ani Manichaikul
    Alisa K. Manning
    Lisa W. Martin
    Rasika A. Mathias
    James B. Meigs
    Braxton D. Mitchell
    May E. Montasser
    Alanna C. Morrison
    Take Naseri
    Jeffrey R. O’Connell
    Nicholette D. Palmer
    Patricia A. Peyser
    Bruce M. Psaty
    Laura M. Raffield
    Nature Methods, 2022, 19 : 1599 - 1611
  • [50] Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing
    Schuh, Anna
    Dreau, Helene
    Knight, Samantha J. L.
    Ridout, Kate
    Mizani, Tuba
    Vavoulis, Dimitris
    Colling, Richard
    Antoniou, Pavlos
    Kvikstad, Erika M.
    Pentony, Melissa M.
    Hamblin, Angela
    Protheroe, Andrew
    Parton, Marina
    Shah, Ketan A.
    Orosz, Zsolt
    Athanasou, Nick
    Hassan, Bass
    Flanagan, Adrienne M.
    Ahmed, Ahmed
    Winter, Stuart
    Harris, Adrian
    Tomlinson, Ian
    Popitsch, Niko
    Church, David
    Taylor, Jenny C.
    COLD SPRING HARBOR MOLECULAR CASE STUDIES, 2018, 4 (02):
12345