Evaluation of Candidate Stromal Epithelial Cross-Talk Genes Identifies Association between Risk of Serous Ovarian Cancer and TERT, a Cancer Susceptibility "Hot-Spot''

被引：47

作者：

Johnatty, Sharon E. ^{[1
]}

Beesley, Jonathan ^{[1
]}

Chen, Xiaoqing ^{[1
]}

Macgregor, Stuart ^{[1
]}

Duffy, David L. ^{[1
]}

Spurdle, Amanda B. ^{[1
]}

deFazio, Anna ^{[2
,3
]}

Gava, Natalie ^{[2
,3
]}

Webb, Penelope M. ^{[1
]}

Rossing, Mary Anne ^{[5
]}

Doherty, Jennifer Anne ^{[5
]}

Goodman, Marc T. ^{[6
]}

Lurie, Galina ^{[6
]}

Thompson, Pamela J. ^{[6
]}

Wilkens, Lynne R. ^{[6
]}

Ness, Roberta B. ^{[7
]}

Moysich, Kirsten B. ^{[8
]}

Chang-Claude, Jenny ^{[9
]}

Wang-Gohrke, Shan ^{[10
]}

Cramer, Daniel W. ^{[11
]}

Terry, Kathryn L. ^{[11
]}

Hankinson, Susan E. ^{[12
,13
,14
]}

Tworoger, Shelley S. ^{[12
,13
,14
]}

Garcia-Closas, Montserrat ^{[15
]}

Yang, Hannah ^{[15
]}

Lissowska, Jolanta ^{[16
,17
]}

Chanock, Stephen J. ^{[18
,19
]}

Pharoah, Paul D. ^{[20
]}

Song, Honglin ^{[20
]}

Whitemore, Alice S. ^{[21
]}

Pearce, Celeste L. ^{[22
]}

Stram, Daniel O. ^{[22
]}

Wu, Anna H. ^{[22
]}

Pike, Malcolm C. ^{[22
]}

Gayther, Simon A. ^{[23
]}

Ramus, Susan J. ^{[23
]}

Menon, Usha ^{[23
]}

Gentry-Maharaj, Aleksandra ^{[23
]}

Anton-Culver, Hoda ^{[24
]}

Ziogas, Argyrios ^{[24
]}

Hogdall, Estrid ^{[25
]}

Kjaer, Susanne K. ^{[25
,26
]}

Hogdall, Claus ^{[26
]}

Berchuck, Andrew ^{[27
]}

Schildkraut, Joellen M. ^{[27
]}

Iversen, Edwin S. ^{[27
]}

Moorman, Patricia G. ^{[27
]}

Phelan, Catherine M. ^{[28
]}

Sellers, Thomas A. ^{[28
]}

Cunningham, Julie M. ^{[29
]}

机构：

[1] Queensland Inst Med Res, Brisbane, Qld 4006, Australia

[2] Univ Sydney, Dept Gynaecol Oncol, Westmead Millennium Inst, Westmead Hosp, Sydney, NSW 2006, Australia

[3] Univ Sydney, Westmead Inst Canc Res, Westmead Millennium Inst, Westmead Hosp, Sydney, NSW 2006, Australia

[4] Peter MacCallum Canc Ctr, Melbourne, Australia

[5] Fred Hutchinson Canc Res Ctr, Program Epidemiol, Div Publ Hlth Serv, Seattle, WA 98104 USA

[6] Univ Hawaii, Canc Res Ctr Hawaii, Hilo, HI 96720 USA

[7] Univ Texas Sch Publ Hlth, Houston, TX USA

[8] Roswell Pk Canc Ctr, Buffalo, NY USA

[9] Deutsch Krebsforschungszentrum, Unit Genet Epidemiol, Div Canc Epidemiol, D-6900 Heidelberg, Germany

[10] Univ Ulm, Dept Obstet & Gynecol, Ulm, Germany

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

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

[13] Harvard Univ, Sch Med, Boston, MA USA

[14] Harvard Univ, Sch Publ Hlth, Dept Epidemiol, Boston, MA 02115 USA

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

[16] M Sklodowska Curie Canc Ctr, Dept Canc Epidemiol & Prevent, Warsaw, Poland

[17] Inst Oncol, Warsaw, Poland

[18] NCI, Lab Translat Genom, Div Canc Epidemiol & Genet, Bethesda, MD 20892 USA

[19] NCI, Core Genotyping Facil, Div Canc Epidemiol & Genet, Bethesda, MD 20892 USA

[20] Univ Cambridge, Dept Oncol & Publ Hlth & Primary Care, Cambridge, England

[21] Stanford Univ, Dept Hlth Res & Policy, Sch Med, Stanford, CA 94305 USA

[22] Univ So Calif, Kenneth Norris Jr Comprehens Canc Ctr, Dept Prevent Med, Keck Sch Med, Los Angeles, CA 90033 USA

[23] UCL, Dept Gynaecol Oncol, UCL EGA Inst Womens Hlth, London, England

[24] Univ Calif Irvine, Sch Med, Dept Epidemiol, Irvine, CA 92717 USA

[25] Danish Canc Soc, Dept Virus Hormones & Canc, Inst Canc Epidemiol, Copenhagen, Denmark

[26] Univ Copenhagen, Rigshosp, Gynaecol Clin, Juliane Marie Ctr, DK-2100 Copenhagen, Denmark

[27] Duke Univ, Med Ctr, Duke Comprehens Canc Ctr, Div Preventat Med, Durham, NC 27710 USA

[28] Univ S Florida, Coll Med, H Lee Moffitt Canc Ctr & Res Inst, Div Canc Prevent & Control, Tampa, FL 33612 USA

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

[30] Baker IDI, Blood & DNA Profiling Facil, Melbourne, Vic, Australia

[31] Univ Melbourne, Dept Biochem, Sch Med, Parkville, Vic 3052, Australia

来源：

PLOS GENETICS | 2010年 / 6卷 / 07期

基金：

美国国家卫生研究院; 英国医学研究理事会;

关键词：

GENOME-WIDE ASSOCIATION; SINGLE-NUCLEOTIDE POLYMORPHISMS; INCESSANT OVULATION; COLORECTAL-CANCER; EXPRESSION; CONSORTIUM; VARIANTS; PROSTATE; LOCUS; MYC;

D O I：

10.1371/journal.pgen.1001016

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We hypothesized that variants in genes expressed as a consequence of interactions between ovarian cancer cells and the host micro-environment could contribute to cancer susceptibility. We therefore used a two-stage approach to evaluate common single nucleotide polymorphisms (SNPs) in 173 genes involved in stromal epithelial interactions in the Ovarian Cancer Association Consortium (OCAC). In the discovery stage, cases with epithelial ovarian cancer (n = 675) and controls (n = 1,162) were genotyped at 1,536 SNPs using an Illumina GoldenGate assay. Based on Positive Predictive Value estimates, three SNPs-PODXL rs1013368, ITGA6 rs13027811, and MMP3 rs522616-were selected for replication using TaqMan genotyping in up to 3,059 serous invasive cases and 8,905 controls from 16 OCAC case-control studies. An additional 18 SNPs with P(per-allele)<0.05 in the discovery stage were selected for replication in a subset of five OCAC studies (n = 1,233 serous invasive cases; n = 3,364 controls). The discovery stage associations in PODXL, ITGA6, and MMP3 were attenuated in the larger replication set (adj. P(per-allele)>= 0.5). However genotypes at TERT rs7726159 were associated with ovarian cancer risk in the smaller, five-study replication study (P(per-allele)=0.03). Combined analysis of the discovery and replication sets for this TERT SNP showed an increased risk of serous ovarian cancer among non-Hispanic whites [adj. OR(per-allele) 1.14 (1.04-1.24) p = 0.003]. Our study adds to the growing evidence that, like the 8q24 locus, the telomerase reverse transcriptase locus at 5p15.33, is a general cancer susceptibility locus.

引用

页码：1 / 10

页数：10

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