Consortium analysis of 7 candidate SNPs for ovarian cancer

被引：74

作者：

Ramus, Susan J. ^{[2
]}

Vierkant, Robert A. ^{[1
]}

Johnatty, Sharon E. ^{[3
]}

Pike, Malcolm C. ^{[4
]}

Van Den Berg, David J. ^{[4
]}

Wu, Anna H. ^{[4
]}

Pearce, Celeste Leigh ^{[4
]}

Menon, Usha ^{[5
]}

Gentry-Maharaj, Aleksandra ^{[5
]}

Gayther, Simon A. ^{[2
]}

DiCioccio, Richard A. ^{[6
]}

McGuire, Valerie ^{[7
]}

Whittemore, Alice S. ^{[7
]}

Song, Honglin ^{[8
]}

Easton, Douglas F. ^{[9
]}

Pharoah, Paul D. P. ^{[8
]}

Garcia-Closas, Montserrat ^{[10
]}

Chanock, Stephen ^{[10
]}

Lissowska, Jolanta ^{[11
,12
]}

Brinton, Louise ^{[10
]}

Terry, Kathryn L. ^{[13
]}

Cramer, Daniel W. ^{[13
]}

Tworoger, Shelley S. ^{[14
,15
]}

Hankinson, Susan E. ^{[14
,15
]}

Berchuck, Andrew ^{[26
]}

Moorman, Patricia G. ^{[16
]}

Schildkraut, Joellen M. ^{[16
]}

Cunningham, Julie M. ^{[1
]}

Liebow, Mark ^{[1
]}

Kjaer, Susanne Krueger ^{[17
]}

Hogdall, Estrid ^{[17
]}

Hogdall, Claus ^{[18
]}

Blaakaer, Jan ^{[19
]}

Ness, Roberta B. ^{[20
]}

Moysich, Kirsten B. ^{[6
]}

Edwards, Robert P. ^{[21
]}

Carney, Michael E. ^{[22
]}

Lurie, Galina ^{[22
]}

Goodman, Marc T. ^{[22
]}

Wang-Gohrke, Shan ^{[23
]}

Kropp, Silke ^{[24
]}

Chang-Claude, Jenny ^{[24
]}

Webb, Penelope M. ^{[3
]}

Chen, Xiaoqing ^{[3
]}

Beesley, Jonathan ^{[3
]}

Chenevix-Trench, Georgia ^{[3
]}

Goode, Ellen L. ^{[1
]}

机构：

[1] Mayo Clin, Coll Med, Dept Hlth Sci Res, Rochester, MN 55905 USA

[2] UCL, EGA Inst Womens Hlth, Translat Res Lab, London, England

[3] Queensland Inst Med Res, Post Off Royal Brisbane Hosp, Brisbane, Qld, Australia

[4] Univ So Calif, Keck Sch Med, Los Angeles, CA 90033 USA

[5] UCL, EGA Inst Womens Hlth, Gynaecol Canc Res Ctr, London, England

[6] Roswell Pk Canc Inst, Buffalo, NY 14263 USA

[7] Stanford Univ, Sch Med, Stanford, CA 94305 USA

[8] Univ Cambridge, Strangeways Res Lab, Canc Res United Kingdom Dept Oncol, Cambridge, England

[9] Univ Cambridge, Strangeways Res Lab, Canc Res United Kingdom Genet Epidemiol Unit, Cambridge, England

[10] Natl Canc Inst, Div Canc Epidemiol & Genet, Rockville, MD USA

[11] Ctr Canc, Dept Canc Epidemiol & Prevent, Warsaw, Poland

[12] M Sklodowska Curie Inst Oncol, Warsaw, Poland

[13] Brigham & Womens Hosp, Obstet & Gynecol Epidemiol Ctr, Boston, MA 02115 USA

[14] Brigham & Womens Hosp, Dept Med, Channing Lab, Boston, MA 02115 USA

[15] Harvard Univ, Sch Med, Boston, MA 02115 USA

[16] Duke Univ, Med Ctr, Dept Community & Family Med, Durham, NC 27710 USA

[17] Danish Canc Soc, Copenhagen, Denmark

[18] Univ Copenhagen, Juliane Marie Ctr, Rigshosp, Copenhagen, Denmark

[19] Aarhus Univ Hosp, Skejby, Denmark

[20] Univ Pittsburgh, Grad Sch Publ Hlth, Pittsburgh, PA USA

[21] Magee Womens Hosp, Pittsburgh, PA USA

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

[23] Univ Ulm, Ulm, Germany

[24] German Canc Res Ctr, Div Canc Epidemiol, Heidelberg, Germany

[25] Peter MacCallum Canc Inst, Melbourne, Vic 3000, Australia

[26] Duke Univ, Ctr Med, Dept Obstet & Gynecol, Durham, NC USA

来源：

INTERNATIONAL JOURNAL OF CANCER | 2008年 / 123卷 / 02期

关键词：

association study; neoplasms; ovarian cancer; replication; single nucleotide polymorphism;

D O I：

10.1002/ijc.23448

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

The Ovarian Cancer Association Consortium selected 7 candidate single nucleotide polymorphisms (SNPs), for which there is evidence from previous studies of an association with variation in ovarian cancer or breast cancer risks. The SNPs selected for analysis were F31I (rs2273535) in AURKA, N372H (rs144848) in BRCA2, rs2854344 in intron 17 of RB1, rs2811712 5' flanking CDKN2A, rs523349 in the 3' UTR of SRD5A2, D302H (rs1045485) in CASP8 and L10P (rs1982073) in TGFB1. Fourteen studies genotyped 4,624 invasive epithelial ovarian cancer cases and 8,113 controls of white non-Hispanic origin. A marginally significant association was found for RB1 when all studies were included [ordinal odds ratio (OR) 0.88 (95% confidence interval (CI) 0.79-1.00) p = 0.041 and dominant OR 0.87 (95% CI 0.76-0.98) p = 0.025]; when the studies that originally suggested an association were excluded, the result was suggestive although no longer statistically significant (ordinal OR 0.92, 95% CI 0.79-1.06). This SNP has also been shown to have an association with decreased risk in breast cancer. There was a suggestion of an association for AURKA, when one study that caused significant study heterogeneity was excluded [ordinal OR 1.10 (95% CI 1.01-1.20) p = 0.027; dominant OR 1.12 (95% CI 1.01-1.24) p = 0.03]. The other 5 SNPs in BRCA2, CDKN2A, SRD5A2, CASP8 and TGFB1 showed no association with ovarian cancer risk; given the large sample size, these results can also be considered to be informative. These null results for SNPs identified from relatively large initial studies shows the importance of replicating associations by a consortium approach. (C) 2008 Wiley-Liss, Inc.

引用

页码：380 / 388

页数：9

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