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; Hakon Hakonarson

doi:10.1038/s41467-017-00408-8

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. MarisHakon Hakonarson

Computer Science

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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.

Original language	English (US)
Article number	569
Journal	Nature communications
Volume	8
Issue number	1
DOIs	https://doi.org/10.1038/s41467-017-00408-8
State	Published - Dec 1 2017

All Science Journal Classification (ASJC) codes

Chemistry(all)
Biochemistry, Genetics and Molecular Biology(all)
Physics and Astronomy(all)

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Chang, X., Zhao, Y., Hou, C., Glessner, J., McDaniel, L., Diamond, M. A., Thomas, K., Li, J., Wei, Z., Liu, Y., Guo, Y., Mentch, F. D., Qiu, H., Kim, C., Evans, P., Vaksman, Z., Diskin, S. J., Attiyeh, E. F., Sleiman, P., ... Hakonarson, H. (2017). Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk. Nature communications, 8(1), [569]. https://doi.org/10.1038/s41467-017-00408-8

@article{81e7c472646145a3a2a7f0a4c4e84c79,

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

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.",

author = "Xiao Chang and Yan Zhao and Cuiping Hou and Joseph Glessner and Lee McDaniel and Diamond, {Maura A.} and Kelly Thomas and Jin Li and Zhi Wei and Yichuan Liu and Yiran Guo and Mentch, {Frank D.} and Haijun Qiu and Cecilia Kim and Perry Evans and Zalman Vaksman and Diskin, {Sharon J.} and Attiyeh, {Edward F.} and Patrick Sleiman and Maris, {John M.} and Hakon Hakonarson",

note = "Funding Information: We thank the patients and their families for their participation in this study. The study was supported by Institutional Development Funds from the CHOP, and by NIH grants U01HG006830 (H.H.) and R01CA124709 (J.M.M.). This work was also supported in part by US National Institutes of Health grants RC1MD004418 to the TARGET consortium, and CA98543 and U10 CA180899 to the COG (J.M.M.). In addition, this project was funded in part with Federal funds from the National Cancer Institute, National Institutes of Health, under Contract No. HHSN261200800001E (J.M.M.). The content of this publication does not necessarily reflect the views of policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the US Government. Publisher Copyright: {\textcopyright} 2017 The Author(s).",

year = "2017",

month = dec,

day = "1",

doi = "10.1038/s41467-017-00408-8",

language = "English (US)",

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Chang, X, Zhao, Y, Hou, C, Glessner, J, McDaniel, L, Diamond, MA, Thomas, K, Li, J, Wei, Z, Liu, Y, Guo, Y, Mentch, FD, Qiu, H, Kim, C, Evans, P, Vaksman, Z, Diskin, SJ, Attiyeh, EF, Sleiman, P, Maris, JM & Hakonarson, H 2017, 'Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk', Nature communications, vol. 8, no. 1, 569. https://doi.org/10.1038/s41467-017-00408-8

TY - JOUR

T1 - Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk

AU - Chang, Xiao

AU - Zhao, Yan

AU - Hou, Cuiping

AU - Glessner, Joseph

AU - McDaniel, Lee

AU - Diamond, Maura A.

AU - Thomas, Kelly

AU - Li, Jin

AU - Wei, Zhi

AU - Liu, Yichuan

AU - Guo, Yiran

AU - Mentch, Frank D.

AU - Qiu, Haijun

AU - Kim, Cecilia

AU - Evans, Perry

AU - Vaksman, Zalman

AU - Diskin, Sharon J.

AU - Attiyeh, Edward F.

AU - Sleiman, Patrick

AU - Maris, John M.

AU - Hakonarson, Hakon

N1 - Funding Information: We thank the patients and their families for their participation in this study. The study was supported by Institutional Development Funds from the CHOP, and by NIH grants U01HG006830 (H.H.) and R01CA124709 (J.M.M.). This work was also supported in part by US National Institutes of Health grants RC1MD004418 to the TARGET consortium, and CA98543 and U10 CA180899 to the COG (J.M.M.). In addition, this project was funded in part with Federal funds from the National Cancer Institute, National Institutes of Health, under Contract No. HHSN261200800001E (J.M.M.). The content of this publication does not necessarily reflect the views of policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the US Government. Publisher Copyright: © 2017 The Author(s).

PY - 2017/12/1

Y1 - 2017/12/1

N2 - 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.

AB - 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.

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U2 - 10.1038/s41467-017-00408-8

DO - 10.1038/s41467-017-00408-8

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AN - SCOPUS:85029573901

SN - 2041-1723

VL - 8

JO - Nature Communications

JF - Nature Communications

IS - 1

M1 - 569

ER -

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

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