Common alleles in candidate susceptibility genes associated with risk and development of epithelial ovarian cancer

被引：52

作者：

Notaridou, Maria ^{[1
]}

Quaye, Lydia ^{[1
]}

Dafou, Dimitra ^{[2
]}

Jones, Chris ^{[1
]}

Song, Honglin ^{[3
]}

Hogdall, Estrid ^{[4
]}

Kjaer, Susanne K. ^{[4
]}

Christensen, Lise ^{[5
]}

Hogdall, Claus ^{[6
]}

Blaakaer, Jan ^{[7
]}

McGuire, Valerie ^{[8
]}

Wu, Anna H. ^{[9
]}

Van den Berg, David J. ^{[9
]}

Pike, Malcolm C. ^{[9
]}

Gentry-Maharaj, Aleksandra ^{[1
]}

Wozniak, Eva ^{[1
]}

Sher, Tanya ^{[1
]}

Jacobs, Ian J. ^{[1
]}

Tyrer, Jonathan ^{[3
]}

Schildkraut, Joellen M. ^{[10
]}

Moorman, Patricia G. ^{[10
]}

Iversen, Edwin S. ^{[11
]}

Jakubowska, Anna ^{[12
]}

Medrek, Krzysztof ^{[12
]}

Lubinski, Jan ^{[12
]}

Ness, Roberta B. ^{[13
]}

Moysich, Kirsten B. ^{[14
]}

Lurie, Galina ^{[15
]}

Wilkens, Lynne R. ^{[15
]}

Carney, Michael E. ^{[16
]}

Wang-Gohrke, Shan ^{[16
]}

Doherty, Jennifer A. ^{[17
]}

Rossing, Mary Anne ^{[17
]}

Beckmann, Matthias W. ^{[18
]}

Thiel, Falk C. ^{[18
]}

Ekici, Arif B. ^{[19
]}

Chen, Xiaoqing ^{[20
]}

Beesley, Jonathan ^{[20
]}

Gronwald, Jacek ^{[12
]}

Fasching, Peter A. ^{[22
]}

Chang-Claude, Jenny ^{[23
]}

Goodman, Marc T. ^{[15
]}

Chenevix-Trench, Georgia ^{[20
]}

Berchuck, Andrew ^{[24
]}

Pearce, C. Leigh ^{[9
]}

Whittemore, Alice S. ^{[8
]}

Menon, Usha ^{[1
]}

Pharoah, Paul D. P. ^{[3
]}

Gayther, Simon A. ^{[1
]}

Ramus, Susan J. ^{[1
]}

机构：

[1] UCL, Gynaecol Oncol Unit, UCL EGA Inst Womens Hlth, Gower St, London WC1E6BT, England

[2] Guys Hosp, Kings Coll London Sch Med, Dept Med & Mol Genet, London WC2R2LS, England

[3] Univ Cambridge, Strangeways Res Lab, CR UK Dept Oncol, Cambridge, England

[4] Danish Canc Soc, Inst Canc Epidemiol, Dept Viruses Hormones & Canc, Copenhagen, Denmark

[5] Univ Copenhagen, Dept Pathol, Bispebjerg Hosp, Copenhagen, Denmark

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

[7] Aarhus Univ Hosp, Dept Obstet & Gynaecol, DK-8000 Aarhus, Denmark

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

[9] Univ Southern Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90033 USA

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

[11] Duke Univ, Med Ctr, Dept Stat Sci, Durham, NC USA

[12] Pomeranian Med Univ, Int Hereditary Canc Ctr, Dept Genet & Pathol, Szczecin, Poland

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

[14] Roswell Pk Canc Inst, Dept Canc Prevent & Control, Buffalo, NY 14263 USA

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

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

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

[18] Univ Hosp Erlangen, Dept Gynecol & Obstet, Erlangen, Germany

[19] Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany

[20] PO Royal Brisbane Hosp, Queensland Inst Med Res, Genet & Populat Hlth, Brisbane, Qld, Australia

[21] Peter MacCallum Canc Ctr, Div Res, Melbourne, Vic, Australia

[22] Univ Calif Los Angeles, David Geffen Sch Med, Div Hematol & Oncol, Los Angeles, CA 90095 USA

[23] German Canc Res Ctr, Div Canc Epidemiol, D-6900 Heidelberg, Germany

[24] Duke Univ Med Ctr, Div Gynecol Oncol, Dept Obstet & Gynecol, Durham, NC 27710 USA

来源：

INTERNATIONAL JOURNAL OF CANCER | 2011年 / 128卷 / 09期

基金：

美国国家卫生研究院;

关键词：

risk of ovarian cancer; polymorphism; association studies; GENOME-WIDE ASSOCIATION; SINGLE-NUCLEOTIDE POLYMORPHISMS; BREAST-CANCER; HETEROZYGOSITY; VARIANTS; BRCA1; MUTATIONS; LOCUS; STAG3; SNPS;

D O I：

10.1002/ijc.25554

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Common germline genetic variation in the population is associated with susceptibility to epithelial ovarian cancer. Microcell-mediated chromosome transfer and expression microarray analysis identified nine genes associated with functional suppression of tumorogenicity in ovarian cancer cell lines; AIFM2, AKTIP, AXIN2, CASP5, FILIP1L, RBBP8, RGC32, RUVBL1 and STAG3. Sixty-three tagging single nucleotide polymorphisms (tSNPs) in these genes were genotyped in 1,799 invasive ovarian cancer cases and 3,045 controls to look for associations with disease risk. Two SNPs in RUVBL1, rs13063604 and rs7650365, were associated with increased risk of serous ovarian cancer [HetOR = 1.42 (1.15-1.74) and the HomOR = 1.63 (1.10-1.42), p-trend = 0.0002] and [HetOR = 0.97 (0.80-1.17), HomOR = 0.74 (0.58-0.93), p-trend = 0.009], respectively. We genotyped rs13063604 and rs7650365 in an additional 4,590 cases and 6,031 controls from ten sites from the United States, Europe and Australia; however, neither SNP was significant in Stage 2. We also evaluated the potential role of tSNPs in these nine genes in ovarian cancer development by testing for allele-specific loss of heterozygosity (LOH) in 286 primary ovarian tumours. We found frequent LOH for tSNPs in AXIN2, AKTIP and RGC32 (64, 46 and 34%, respectively) and one SNP, rs1637001, in STAG3 showed significant allele-specific LOH with loss of the common allele in 94% of informative tumours (p = 0.015). Array comparative genomic hybridisation indicated that this nonrandom allelic imbalance was due to amplification of the rare allele. In conclusion, we show evidence for the involvement of a common allele of STAG3 in the development of epithelial ovarian cancer.

引用

页码：2063 / 2074

页数：12

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