Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer

被引：369

作者：

Stacey, Simon N. ^{[1
]}

Manolescu, Andrei ^{[1
]}

Sulem, Patrick ^{[1
]}

Thorlacius, Steinunn ^{[1
]}

Gudjonsson, Sigurjon A. ^{[1
]}

Jonsson, Gudbjorn F. ^{[1
]}

Jakobsdottir, Margret ^{[1
]}

Bergthorsson, Jon T. ^{[1
]}

Gudmundsson, Julius ^{[1
]}

Aben, Katja K. ^{[2
,3
,4
]}

Strobbe, Luc J. ^{[5
]}

Swinkels, Dorine W. ^{[3
,4
]}

van Engelenburg, K. C. Anton ^{[6
]}

Henderson, Brian E. ^{[7
]}

Kolonel, Laurence N. ^{[8
]}

Le Marchand, Loic ^{[8
]}

Millastre, Esther ^{[9
]}

Andres, Raquel ^{[9
]}

Saez, Berta ^{[10
]}

Lambea, Julio ^{[9
]}

Godino, Javier ^{[10
]}

Polo, Eduardo ^{[11
]}

Tres, Alejandro ^{[9
]}

Picelli, Simone ^{[12
]}

Rantala, Johanna ^{[12
]}

Margolin, Sara ^{[13
]}

Jonsson, Thorvaldur ^{[14
,15
,16
]}

Sigurdsson, Helgi ^{[14
,15
,16
]}

Jonsdottir, Thora ^{[14
,15
,16
]}

Hrafnkelsson, Jon ^{[14
,15
,16
]}

Johannsson, Jakob ^{[14
,15
,16
]}

Sveinsson, Thorarinn ^{[14
,15
,16
]}

Myrdal, Gardar ^{[14
,15
,16
]}

Grimsson, Hlynur Niels ^{[14
,15
,16
]}

Sveinsdottir, Steinunn G. ^{[17
]}

Alexiusdottir, Kristin ^{[17
]}

Saemundsdottir, Jona ^{[1
]}

Sigurdsson, Asgeir ^{[1
]}

Kostic, Jelena ^{[1
]}

Gudmundsson, Larus ^{[1
]}

Kristjansson, Kristleifur ^{[1
]}

Masson, Gisli ^{[1
]}

Fackenthal, James D. ^{[18
]}

Adebamowo, Clement ^{[19
]}

Ogundiran, Temidayo ^{[19
]}

Olopade, Olufunmilayo I. ^{[18
]}

Haiman, Christopher A. ^{[7
]}

Lindblom, Annika ^{[12
]}

Mayordomo, Jose I. ^{[9
]}

Kiemeney, Lambertus A. ^{[2
,3
,4
]}

机构：

[1] deCODE Genet, IS-101 Reykjavik, Iceland

[2] Comprehens Canc Ctr IKO, NL-6501 BG Nijmegen, Netherlands

[3] Radboud Univ Nijmegen, Med Ctr, Dept Epidemiol & Biostat, NL-6500 HB Nijmegen, Netherlands

[4] Radboud Univ Nijmegen, Med Ctr, Dept Clin Chem & Urol, NL-6500 HB Nijmegen, Netherlands

[5] Canisius Wilhelmina Hosp, Dept Surg, NL-6500 GS Nijmegen, Netherlands

[6] Slingeland Hosp, Dept Surg, NL-7009 BL Doetinchem, Netherlands

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

[8] Univ Hawaii, Canc Res Ctr, Honolulu, HI 96813 USA

[9] Univ Hosp, Div Med Oncol, Zaragoza 50009, Spain

[10] Nanotechnol Inst Aragon, Hlth Sci Inst, Zaragoza 50009, Spain

[11] Ernest Lluch Hosp, Div Med Oncol, Calatayud 50300, Spain

[12] Karolinska Inst, Dept Mol Med, S-17176 Stockholm, Sweden

[13] Karolinska Univ Hosp Sodersjukhuset, Dept Oncol, S-11883 Stockholm, Sweden

[14] Landspitali Univ Hosp, Dept Oncol, IS-101 Reykjavik, Iceland

[15] Landspitali Univ Hosp, Dept Surg, IS-101 Reykjavik, Iceland

[16] Landspitali Univ Hosp, Dept Radiat Phys, IS-101 Reykjavik, Iceland

[17] Clin Res Ctr, IS-110 Reykjavik, Iceland

[18] Univ Chicago, Dept Med, Chicago, IL 60615 USA

[19] Univ Ibadan, Univ Coll Ibadan Hosp, Coll Med, Div Oncol,Dept Surg, Ibadan, Oyo State, Nigeria

来源：

NATURE GENETICS | 2008年 / 40卷 / 06期

关键词：

D O I：

10.1038/ng.131

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We carried out a genome-wide association study of breast cancer predisposition with replication and refinement studies involving 6,145 cases and 33,016 controls and identified two SNPs (rs4415084 and rs10941679) on 5p12 that confer risk, preferentially for estrogen receptor (ER)-positive tumors (OR = 1.27, P = 2.5 x 10(-12) for rs10941679). The nearest gene, MRPS30, was previously implicated in apoptosis, ER-positive tumors and favorable prognosis. A recently reported signal in FGFR2 was also found to associate specifically with ER-positive breast cancer.

引用

页码：703 / 706

页数：4

共 14 条

[1]

Cavdar KE, 2001, FEBS LETT, V492, P166

[2] Genome-wide association study identifies novel breast cancer susceptibility loci [J].

Easton, Douglas F. ;

Pooley, Karen A. ;

Dunning, Alison M. ;

Pharoah, Paul D. P. ;

Thompson, Deborah ;

Ballinger, Dennis G. ;

Struewing, Jeffery P. ;

Morrison, Jonathan ;

Field, Helen ;

Luben, Robert ;

Wareham, Nicholas ;

Ahmed, Shahana ;

Healey, Catherine S. ;

Bowman, Richard ;

Meyer, Kerstin B. ;

Haiman, Christopher A. ;

Kolonel, Laurence K. ;

Henderson, Brian E. ;

Le Marchand, Loic ;

Brennan, Paul ;

Sangrajrang, Suleeporn ;

Gaborieau, Valerie ;

Odefrey, Fabrice ;

Shen, Chen-Yang ;

Wu, Pei-Ei ;

Wang, Hui-Chun ;

Eccles, Diana ;

Evans, D. Gareth ;

Peto, Julian ;

Fletcher, Olivia ;

Johnson, Nichola ;

Seal, Sheila ;

Stratton, Michael R. ;

Rahman, Nazneen ;

Chenevix-Trench, Georgia ;

Bojesen, Stig E. ;

Nordestgaard, Borge G. ;

Axelsson, Christen K. ;

Garcia-Closas, Montserrat ;

Brinton, Louise ;

Chanock, Stephen ;

Lissowska, Jolanta ;

Peplonska, Beata ;

Nevanlinna, Heli ;

Fagerholm, Rainer ;

Eerola, Hannaleena ;

Kang, Daehee ;

Yoo, Keun-Young ;

Noh, Dong-Young ;

Ahn, Sei-Hyun .

NATURE, 2007, 447 (7148) :1087-U7

[3] Establishment of the epithelial-specific transcriptome of normal and malignant human breast cells based on MPSS and array expression data [J].

Grigoriadis, Anita ;

Mackay, Alan ;

Reis-Filho, Jorge S. ;

Steele, Dawn ;

Iseli, Christian ;

Stevenson, Brian J. ;

Jongeneel, C. Victor ;

Valgeirsson, Haukur ;

Fenwick, Kerry ;

Iravani, Marjan ;

Leao, Maria ;

Simpson, Andrew J. G. ;

Strausberg, Robert L. ;

Jat, Parmjit S. ;

Ashworth, Alan ;

Neville, A. Munro ;

O'Hare, Michael J. .

BREAST CANCER RESEARCH, 2006, 8 (05)

[4] Clinical correlates of low-risk variants in FGFR2, TNRC9, MAP3K1, LSP1 and 8q24 in a Dutch cohort of incident breast cancer cases [J].

Huijts, Petra E. A. ;

Vreeswijk, Maaike P. G. ;

Kroeze-Jansema, Karin H. G. ;

Jacobi, Catharina E. ;

Seynaeve, Caroline ;

Krol-Warmerdam, Elly M. M. ;

Wijers-Koster, Pauline M. ;

Blom, Jannet C. ;

Pooley, Karen A. ;

Klijn, Jan G. M. ;

Tollenaar, Rob A. E. M. ;

Devilee, Peter ;

van Asperen, Christi J. .

BREAST CANCER RESEARCH, 2007, 9 (06)

[5] A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer [J].

Hunter, David J. ;

Kraft, Peter ;

Jacobs, Kevin B. ;

Cox, David G. ;

Yeager, Meredith ;

Hankinson, Susan E. ;

Wacholder, Sholom ;

Wang, Zhaoming ;

Welch, Robert ;

Hutchinson, Amy ;

Wang, Junwen ;

Yu, Kai ;

Chatterjee, Nilanjan ;

Orr, Nick ;

Willett, Walter C. ;

Colditz, Graham A. ;

Ziegler, Regina G. ;

Berg, Christine D. ;

Buys, Saundra S. ;

McCarty, Catherine A. ;

Feigelson, Heather Spencer ;

Calle, Eugenia E. ;

Thun, Michael J. ;

Hayes, Richard B. ;

Tucker, Margaret ;

Gerhard, Daniela S. ;

Fraumeni, Joseph F., Jr. ;

Hoover, Robert N. ;

Thomas, Gilles ;

Chanock, Stephen J. .

NATURE GENETICS, 2007, 39 (07) :870-874

[6] The small subunit of the mammalian mitochondrial ribosome - Identification of the full complement of ribosomal proteins present [J].

Koc, EC ;

Burkhart, W ;

Blackburn, K ;

Moseley, A ;

Spremulli, LL .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2001, 276 (22) :19363-19374

[7] A novel endonuclease IV post-PCR genotyping system [J].

Kutyavin, Igor V. ;

Milesi, Dave ;

Belousov, Yevgeniy ;

Podyminogin, Mikhail ;

Vorobiev, Alexei ;

Gorn, Vladimir ;

Lukhtanov, Eugeny A. ;

Vermeulen, Nicolaas M. J. ;

Mahoney, Walt .

NUCLEIC ACIDS RESEARCH, 2006, 34 (19)

[8] The fine-scale structure of recombination rate variation in the human genome [J].

McVean, GAT ;

Myers, SR ;

Hunt, S ;

Deloukas, P ;

Bentley, DR ;

Donnelly, P .

SCIENCE, 2004, 304 (5670) :581-584

[9] Polygenic susceptibility to breast cancer and implications for prevention [J].

Pharoah, PDP ;

Antoniou, A ;

Bobrow, M ;

Zimmern, RL ;

Easton, DF ;

Ponder, BAJ .

NATURE GENETICS, 2002, 31 (01) :33-36

[10] Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer [J].

Stacey, Simon N. ;

Manolescu, Andrei ;

Sulem, Patrick ;

Rafnar, Thorunn ;

Gudmundsson, Julius ;

Gudjonsson, Sigurjon A. ;

Masson, Gisli ;

Jakobsdottir, Margret ;

Thorlacius, Steinunn ;

Helgason, Agnar ;

Aben, Katja K. ;

Strobbe, Luc J. ;

Albers-Akkers, Marjo T. ;

Swinkels, Dorine W. ;

Henderson, Brian E. ;

Kolonel, Laurence N. ;

Le Marchand, Loic ;

Millastre, Esther ;

Andres, Raquel ;

Godino, Javier ;

Garcia-Prats, Maria Dolores ;

Polo, Eduardo ;

Tres, Alejandro ;

Mouy, Magali ;

Saemundsdottir, Jona ;

Backman, Valgerdur M. ;

Gudmundsson, Larus ;

Kristjansson, Kristleifur ;

Bergthorsson, Jon T. ;

Kostic, Jelena ;

Frigge, Michael L. ;

Geller, Frank ;

Gudbjartsson, Daniel ;

Sigurdsson, Helgi ;

Jonsdottir, Thora ;

Hrafnkelsson, Jon ;

Johannsson, Jakob ;

Sveinsson, Thorarinn ;

Myrdal, Gardar ;

Grimsson, Hlynur Niels ;

Jonsson, Thorvaldur ;

von Holst, Susanna ;

Werelius, Barbro ;

Margolin, Sara ;

Lindblom, Annika ;

Mayordomo, Jose I. ;

Haiman, Christopher A. ;

Kiemeney, Lambertus A. ;

Johannsson, Oskar Th ;

Gulcher, Jeffrey R. .

NATURE GENETICS, 2007, 39 (07) :865-869

← 1 2 →