Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk

Xiao Chang, Yan Zhao, Cuiping Hou, Joseph Glessner, Lee McDaniel, Maura A. Diamond, Kelly Thomas, Jin Li, Zhi Wei, Yichuan Liu, Yiran Guo, Frank D. Mentch, Haijun Qiu, Cecilia Kim, Perry Evans, Zalman Vaksman, Sharon J. Diskin, Edward F. Attiyeh, Patrick Sleiman, John M. Maris () and Hakon Hakonarson ()
Additional contact information
Xiao Chang: Children’s Hospital of Philadelphia
Yan Zhao: Children’s Hospital of Philadelphia
Cuiping Hou: Children’s Hospital of Philadelphia
Joseph Glessner: Children’s Hospital of Philadelphia
Lee McDaniel: The Children’s Hospital of Philadelphia
Maura A. Diamond: The Children’s Hospital of Philadelphia
Kelly Thomas: Children’s Hospital of Philadelphia
Jin Li: Children’s Hospital of Philadelphia
Zhi Wei: New Jersey Institute of Technology
Yichuan Liu: Children’s Hospital of Philadelphia
Yiran Guo: Children’s Hospital of Philadelphia
Frank D. Mentch: Children’s Hospital of Philadelphia
Haijun Qiu: Children’s Hospital of Philadelphia
Cecilia Kim: Children’s Hospital of Philadelphia
Perry Evans: The Children’s Hospital of Philadelphia
Zalman Vaksman: The Children’s Hospital of Philadelphia
Sharon J. Diskin: The Children’s Hospital of Philadelphia
Edward F. Attiyeh: The Children’s Hospital of Philadelphia
Patrick Sleiman: Children’s Hospital of Philadelphia
John M. Maris: The Children’s Hospital of Philadelphia
Hakon Hakonarson: Children’s Hospital of Philadelphia

Nature Communications, 2017, vol. 8, issue 1, 1-7

Abstract: Abstract MYCN amplification and 11q deletion are two inversely correlated prognostic factors of poor outcome in neuroblastoma. Here we identify common variants at 11q22.2 within MMP20 that associate with neuroblastoma cases harboring 11q deletion (rs10895322), using GWAS in 113 European-American cases and 5109 ancestry-matched controls. The association is replicated in 44 independent cases and 1902 controls. Our study yields novel insights into the genetic underpinnings of neuroblastoma, demonstrating that the inherited common variants reported contribute to the origin of intra-tumor genetic heterogeneity in neuroblastoma.

Date: 2017
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DOI: 10.1038/s41467-017-00408-8

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