The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in colorectal cancer

被引：522

作者：

Pomerantz, Mark M. ^{[1
]}

Ahmadiyeh, Nasim ^{[1
,2
]}

Jia, Li ^{[3
]}

Herman, Paula ^{[1
]}

Verzi, Michael P. ^{[1
]}

Doddapaneni, Harshavardhan ^{[4
]}

Beckwith, Christine A. ^{[1
]}

Chan, Jennifer A. ^{[5
]}

Hills, Adam ^{[1
]}

Davis, Matt ^{[1
]}

Yao, Keluo ^{[1
]}

Kehoe, Sarah M. ^{[1
]}

Lenz, Heinz-Josef ^{[6
]}

Haiman, Christopher A. ^{[6
]}

Yan, Chunli ^{[3
]}

Henderson, Brian E. ^{[6
]}

Frenkel, Baruch ^{[7
]}

Barretina, Jordi ^{[1
]}

Bass, Adam ^{[1
]}

Tabernero, Josep ^{[8
]}

Baselga, Jose ^{[8
]}

Regan, Meredith M. ^{[9
]}

Manak, J. Robert ^{[4
]}

Shivdasani, Ramesh ^{[1
]}

Coetzee, Gerhard A. ^{[3
]}

Freedman, Matthew L. ^{[1
,10
,11
]}

机构：

[1] Dana Farber Canc Inst, Dept Med Oncol, Boston, MA 02115 USA

[2] Brigham & Womens Hosp, Dept Surg, Boston, MA 02115 USA

[3] USC, Keck Sch Med, Dept Urol, Los Angeles, CA USA

[4] Univ Iowa, Dept Biol, Iowa City, IA 52242 USA

[5] Univ Calgary, Dept Pathol & Lab Med, Calgary, AB T2N 1N4, Canada

[6] Univ So Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90033 USA

[7] Univ So Calif, Keck Sch Med, Inst Med Genet, Los Angeles, CA 90033 USA

[8] Vall Hebron Univ Hosp, Vall Hebron Inst Oncol, Catalonia, Spain

[9] Dana Farber Canc Inst, Dept Biostat & Computat Biol, Boston, MA 02115 USA

[10] Broad Inst Harvard, Cambridge, MA USA

[11] MIT, Cambridge, MA 02139 USA

来源：

NATURE GENETICS | 2009年 / 41卷 / 08期

基金：

美国国家卫生研究院;

关键词：

WIDE ASSOCIATION SCAN; CHROMOSOME; 8Q24; BETA-CATENIN; GENOME; ACTIVATION; ENHANCERS; PROSTATE; APC;

D O I：

10.1038/ng.403

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

An inherited variant on chromosome 8q24, rs6983267, is significantly associated with cancer pathogenesis. We present evidence that the region harboring this variant is a transcriptional enhancer, that the alleles of rs6983267 differentially bind transcription factor 7-like 2 (TCF7L2) and that the risk region physically interacts with the MYC protooncogene. These data provide strong support for a biological mechanism underlying this non-protein-coding risk variant.

引用

页码：882 / 884

页数：3

共 15 条

[11] A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21 [J].

Tomlinson, Ian ;

Webb, Emily ;

Carvajal-Carmona, Luis ;

Broderick, Peter ;

Kemp, Zoe ;

Spain, Sarah ;

Penegar, Steven ;

Chandler, Ian ;

Gorman, Maggie ;

Wood, Wendy ;

Barclay, Ella ;

Lubbe, Steven ;

Martin, Lynn ;

Sellick, Gabrielle ;

Jaeger, Emma ;

Hubner, Richard ;

Wild, Ruth ;

Rowan, Andrew ;

Fielding, Sarah ;

Howarth, Kimberley ;

Silver, Andrew ;

Atkin, Wendy ;

Muir, Kenneth ;

Logan, Richard ;

Kerr, David ;

Johnstone, Elaine ;

Sieber, Oliver ;

Gray, Richard ;

Thomas, Huw ;

Peto, Julian ;

Cazier, Baptiste ;

Houlston, Richard .

NATURE GENETICS, 2007, 39 (08) :984-988

[12] The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling [J].

Tuupanen, Sari ;

Turunen, Mikko ;

Lehtonen, Rainer ;

Hallikas, Outi ;

Vanharanta, Sakari ;

Kivioja, Teemu ;

Bjorklund, Mikael ;

Wei, Gonghong ;

Yan, Jian ;

Niittymaki, Iina ;

Mecklin, Jukka-Pekka ;

Jarvinen, Heikki ;

Ristimaki, Ari ;

Di-Bernardo, Mariachiara ;

East, Phil ;

Carvajal-Carmona, Luis ;

Houlston, Richard S. ;

Tomlinson, Ian ;

Palin, Kimmo ;

Ukkonen, Esko ;

Karhu, Auli ;

Taipale, Jussi ;

Aaltonen, Lauri A. .

NATURE GENETICS, 2009, 41 (08) :885-U37

[13] ChIP-seq accurately predicts tissue-specific activity of enhancers [J].

Visel, Axel ;

Blow, Matthew J. ;

Li, Zirong ;

Zhang, Tao ;

Akiyama, Jennifer A. ;

Holt, Amy ;

Plajzer-Frick, Ingrid ;

Shoukry, Malak ;

Wright, Crystal ;

Chen, Feng ;

Afzal, Veena ;

Ren, Bing ;

Rubin, Edward M. ;

Pennacchio, Len A. .

NATURE, 2009, 457 (7231) :854-858

[14] Comprehensive resequence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers [J].

Yeager, Meredith ;

Xiao, Nianqing ;

Hayes, Richard B. ;

Bouffard, Pascal ;

Desany, Brian ;

Burdett, Laura ;

Orr, Nick ;

Matthews, Casey ;

Qi, Liqun ;

Crenshaw, Andrew ;

Markovic, Zdenek ;

Fredrikson, Karin M. ;

Jacobs, Kevin B. ;

Amundadottir, Laufey ;

Jarvie, Thomas P. ;

Hunter, David J. ;

Hoover, Robert ;

Thomas, Gilles ;

Harkins, Timothy T. ;

Chanock, Stephen J. .

HUMAN GENETICS, 2008, 124 (02) :161-170

[15] Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24 [J].

Zanke, Brent W. ;

Greenwood, Celia M. T. ;

Rangrej, Jagadish ;

Kustra, Rafal ;

Tenesa, Albert ;

Farrington, Susan M. ;

Prendergast, James ;

Olschwang, Sylviane ;

Chiang, Theodore ;

Crowdy, Edgar ;

Ferretti, Vincent ;

Laflamme, Philippe ;

Sundararajan, Saravanan ;

Roumy, Stephanie ;

Olivier, Jean-Francois ;

Robidoux, Frederick ;

Sladek, Robert ;

Montpetit, Alexandre ;

Campbell, Peter ;

Bezieau, Stephane ;

O'Shea, Anne Marie ;

Zogopoulos, George ;

Cotterchio, Michelle ;

Newcomb, Polly ;

McLaughlin, John ;

Younghusband, Ban ;

Green, Roger ;

Green, Jane ;

Porteous, Mary E. M. ;

Campbell, Harry ;

Blanche, Helene ;

Sahbatou, Mourad ;

Tubacher, Emmanuel ;

Bonaiti-Pellie, Catherine ;

Buecher, Bruno ;

Riboli, Elio ;

Kury, Sebastien ;

Chanock, Stephen J. ;

Potter, John ;

Thomas, Gilles ;

Gallinger, Steven ;

Hudson, Thomas J. ;

Dunlop, Malcolm G. .

NATURE GENETICS, 2007, 39 (08) :989-994

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