A common coding variant in CASP8 is associated with breast cancer risk

被引：425

作者：

Cox, Angela ^{[1
]}

Dunning, Alison M.

Garcia-Closas, Montserrat

Balasubramanian, Sabapathy

Reed, Malcolm W. R.

Pooley, Karen A.

Scollen, Serena

Baynes, Caroline

Ponder, Bruce A. J.

Chanock, Stephen

Lissowska, Jolanta

Brinton, Louise

Peplonska, Beata

Southey, Melissa C.

Hopper, John L.

McCredie, Margaret R. E.

Giles, Graham G.

Fletcher, Olivia

Johnson, Nichola

dos Santos Silva, Isabel

Gibson, Lorna

Bojesen, Stig E.

Nordestgaard, Borge G.

Axelsson, Christen K.

Torres, Diana

Hamann, Ute

Justenhoven, Christina

Brauch, Hiltrud

Chang-Claude, Jenny

Kropp, Silke

Risch, Angela

Wang-Gohrke, Shan

Schuermann, Peter

Bogdanova, Natalia

Doerk, Thilo

Fagerholm, Rainer

Aaltonen, Kirsimari

Blomqvist, Carl

Nevanlinna, Heli

Seal, Sheila

Renwick, Anthony

Stratton, Michael R.

Rahman, Nazneen

Sangrajrang, Suleeporn

Hughes, David

Odefrey, Fabrice

Brennan, Paul

Spurdle, Amanda B.

Chenevix-Trench, Georgia

Beesley, Jonathan

机构：

[1] Univ Sheffield, Sch Med, Sheffield S10 2RX, S Yorkshire, England

[2] Univ Cambridge, Dept Oncol, Cambridge CB2 1TN, England

[3] Univ Cambridge, Dept Publ Hlth & Primary Care, Cambridge CB2 1TN, England

[4] NCI, Div Canc Epidemiol & Genet, Rockville, MD 20852 USA

[5] NCI, Core Genotyping Facil, Ctr Adv Technol, Bethesda, MD 20892 USA

[6] Ctr Canc, PL-02781 Warsaw, Poland

[7] M Sklodowska Curie Inst Oncol, PL-02781 Warsaw, Poland

[8] Nofer Inst Occupat Med, PL-90950 Lodz, Poland

[9] Univ Melbourne, Melbourne, Vic 3010, Australia

[10] Univ Otago, Dunedin, New Zealand

[11] Canc Council Victoria, Canc Epidemiol Ctr, Melbourne, Vic 3053, Australia

[12] Inst Canc Res, Breakthrough Breast Canc Res Ctr, London SW3 6JB, England

[13] Univ London London Sch Hyg & Trop Med, London WC1E 7HT, England

[14] Univ Copenhagen, Herlev Hosp, Dept Clin Biochem, DK-2730 Herlev, Denmark

[15] Univ Copenhagen, Herlev Hosp, Dept Breast Surg, DK-2730 Herlev, Denmark

[16] Deutsch Krebsforschungszentrum, D-69120 Heidelberg, Germany

[17] Dr Margarete Fischer Bosch Inst Clin Pharmacol, D-70376 Stuttgart, Germany

[18] Univ Tubingen, D-72074 Tubingen, Germany

[19] German Canc Res Ctr, D-69120 Heidelberg, Germany

[20] Univ Ulm, D-89069 Ulm, Germany

[21] Hannover Med Sch, Dept Gynecol & Obstet, D-30625 Hannover, Germany

[22] Hannover Med Sch, Dept Radiat Oncol, D-30625 Hannover, Germany

[23] Univ Helsinki, Cent Hosp, Dept Obstet & Gynecol, FIN-00290 Helsinki, Finland

[24] Univ Helsinki, Cent Hosp, Dept Oncol, FIN-00290 Helsinki, Finland

[25] Inst Canc Res, Sect Canc Genet, Sutton SM2 5NG, Surrey, England

[26] Natl Canc Inst, Bangkok 10400, Thailand

[27] Int Agcy Res Canc, F-69372 Lyon, France

[28] Queensland Inst Med Res, Brisbane, Qld 4029, Australia

[29] Univ Kuopio, Inst Clin Med Pathol & Forens Med, FI-70211 Kuopio, Finland

[30] Kuopio Univ Hosp, Dept Oncol, FI-70211 Kuopio, Finland

[31] Kuopio Univ Hosp, Dept Pathol, FI-70211 Kuopio, Finland

[32] Mayo Clin Coll Med, Rochester, MN 55905 USA

[33] Netherlands Canc Inst, Dept Expt Therapy, NL-1066 CX Amsterdam, Netherlands

[34] Netherlands Canc Inst, Dept Epidemiol & Mol Pathol, NL-1066 CX Amsterdam, Netherlands

[35] Seoul Natl Univ, Coll Med, Seoul 151742, South Korea

[36] Univ Ulsan, Coll Med, Dept Surg, Ulsan 680749, South Korea

[37] Karolinska Inst, Dept Med Epidemiol & Biostat, SE-17177 Stockholm, Sweden

[38] Genome Inst Singapore, Singapore 138672, Singapore

[39] CNIO, Spanish Natl Canc Res Ctr, E-28049 Madrid, Spain

[40] NCI, NIH, Dept Hlth & Human Serv, Bethesda, MD 20892 USA

[41] Univ Minnesota, Div Environm Hlth Sci, Minneapolis, MN 55455 USA

来源：

NATURE GENETICS | 2007年 / 39卷 / 03期

基金：

英国惠康基金;

关键词：

D O I：

10.1038/ng1981

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The Breast Cancer Association Consortium (BCAC) has been established to conduct combined case-control analyses with augmented statistical power to try to confirm putative genetic associations with breast cancer. We genotyped nine SNPs for which there was some prior evidence of an association with breast cancer: CASP8 D302H (rs1045485), IGFBP3-202 C -> A (rs2854744), SOD2 V16A (rs1799725), TGFB1 L10P (rs1982073), ATM S49C (rs1800054), ADH1B 3' UTR A -> G (rs1042026), CDKN1A S31R (rs1801270), ICAM5 V301I (rs1056538) and NUMA1 A794G (rs3750913). We included data from 9-15 studies, comprising 11,391-18,290 cases and 14,753-22,670 controls. We found evidence of an association with breast cancer for CASP8 D302H (with odds ratios (OR) of 0.89 (95% confidence interval (c.i.): 0.85-0.94) and 0.74 (95% c.i.: 0.62-0.87) for heterozygotes and rare homozygotes, respectively, compared with common homozygotes; P(trend) = 1.1 x 10(-7)) and weaker evidence for TGFB1 L10P (OR = 1.07 (95% c.i.: 1.02-1.13) and 1.16 (95% c.i.: 1.08-1.25), respectively; P(trend) = 2.8 x 10(-5)). These results demonstrate that common breast cancer susceptibility alleles with small effects on risk can be identified, given sufficiently powerful studies.

引用

页码：352 / 358

页数：7

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