Genetic predisposition to neuroblastoma mediated by a LMO1 super-enhancer polymorphism

Derek A. Oldridge, Andrew C. Wood, Nina Weichert-Leahey, Ian Crimmins, Robyn Sussman, Cynthia Winter, Lee D. McDaniel, Maura Diamond, Lori S. Hart, Shizhen Zhu, Adam D. Durbin, Brian J. Abraham, Lars Anders, Lifeng Tian, Shile Zhang, Jun S. Wei, Javed Khan, Kelli Bramlett, Nazneen Rahman, Mario Capasso, Achille Iolascon, Daniela S. Gerhard, Jaime M. Guidry Auvil, Richard A. Young, Hakon Hakonarson, Sharon J. Diskin, A. Thomas Look and John M. Maris ()
Additional contact information
Derek A. Oldridge: Children’s Hospital of Philadelphia
Andrew C. Wood: University of Auckland
Nina Weichert-Leahey: Dana Farber Cancer Institute, Harvard Medical School
Ian Crimmins: Children’s Hospital of Philadelphia
Robyn Sussman: Children’s Hospital of Philadelphia
Cynthia Winter: Children’s Hospital of Philadelphia
Lee D. McDaniel: Children’s Hospital of Philadelphia
Maura Diamond: Children’s Hospital of Philadelphia
Lori S. Hart: Children’s Hospital of Philadelphia
Shizhen Zhu: Mayo Clinic
Adam D. Durbin: Dana Farber Cancer Institute, Harvard Medical School
Brian J. Abraham: Whitehead Institute for Biomedical Research and MIT
Lars Anders: Whitehead Institute for Biomedical Research and MIT
Lifeng Tian: Center for Applied Genomics, Children’s Hospital of Philadelphia
Shile Zhang: Pediatric Oncology Branch, National Cancer Institute
Jun S. Wei: Pediatric Oncology Branch, National Cancer Institute
Javed Khan: Pediatric Oncology Branch, National Cancer Institute
Kelli Bramlett: Thermo Fisher Scientific
Nazneen Rahman: The Institute of Cancer Research
Mario Capasso: University of Naples Federico II
Achille Iolascon: University of Naples Federico II
Daniela S. Gerhard: Office of Cancer Genomics, National Cancer Institute
Jaime M. Guidry Auvil: Office of Cancer Genomics, National Cancer Institute
Richard A. Young: Whitehead Institute for Biomedical Research and MIT
Hakon Hakonarson: Center for Applied Genomics, Children’s Hospital of Philadelphia
Sharon J. Diskin: Children’s Hospital of Philadelphia
A. Thomas Look: Dana Farber Cancer Institute, Harvard Medical School
John M. Maris: Children’s Hospital of Philadelphia

Nature, 2015, vol. 528, issue 7582, 418-421

Abstract: A causal variant is identified at the LMO1 oncogene locus that drives the genetic association of LMO1 with neuroblastoma susceptibility; the causal SNP disrupts a GATA transcription factor binding site within a tissue-specific super-enhancer element in the first intron of LMO1, thereby affecting LMO1 expression.

Date: 2015
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DOI: 10.1038/nature15540

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