A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2

Nature Genetics

Volumn 41, Issue 9, 2009, Pages 996-1000

  Song, Honglin ^a   Ramus, Susan J ^b   Tyrer, Jonathan ^a   Bolton, Kelly L ^a,c   Gentry Maharaj, Aleksandra ^b   Wozniak, Eva ^b   Anton Culver, Hoda ^d   Chang Claude, Jenny ^e   Cramer, Daniel W ^f   DiCioccio, Richard ^g   Dörk, Thilo ^h   Goode, Ellen L ⁱ   Goodman, Marc T ^j   Schildkraut, Joellen M ^k   Sellers, Thomas ^l   Baglietto, Laura ^m,n   Beckmann, Matthias W ^o   Beesley, Jonathan ^p   Blaakaer, Jan ^q   Carney, Michael E ^j   Chanock, Stephen ^c   Chen, Zhihua ^l   Cunningham, Julie M ⁱ   Dicks, Ed ^a   Doherty, Jennifer A ^r   Dürst, Matthias ^s   Ekici, Arif B ^t   Fenstermacher, David ^l   Fridley, Brooke L ⁱ   Giles, Graham ^m,n   Gore, Martin E ^u   De Vivo, Immaculata ^f   Hillemanns, Peter ^h   Hogdall, Claus ^v   Hogdall, Estrid ^w   Iversen, Edwin S ^x   Jacobs, Ian J ^b   Jakubowska, Anna ^y   Li, Dong ^d   Lissowska, Jolanta ^z   Lubiński, Jan ^y   Lurie, Galina ^j   McGuire, Valerie ^aa   McLaughlin, John ^ab   Mȩdrek, Krzysztof ^y   Moorman, Patricia G ^k   Moysich, Kirsten ^ac   Narod, Steven ^ad   Phelan, Catherine ^l   Pye, Carole ^a   Risch, Harvey ^ae   Runnebaum, Ingo B ^s   Severi, Gianluca ^m,n   Southey, Melissa ⁿ   Stram, Daniel O ^af   Thiel, Falk C ^o   Terry, Kathryn L ^f   Tsai, Ya Yu ^l   Tworoger, Shelley S ^f   Van Den Berg, David J ^af   Vierkant, Robert A ⁱ   Wang Gohrke, Shan ^ag   Webb, Penelope M ^p   Wilkens, Lynne R ^j   Wu, Anna H ^af   Yang, Hannah ^c   Brewster, Wendy ^ah   Ziogas, Argyrios ^d   Houlston, Richard ^ai   Tomlinson, Ian ^aj   Whittemore, Alice S ^aa   Rossing, Mary Anne ^r   Ponder, Bruce A J ^a   Pearce, Celeste Leigh ^af   Ness, Roberta B ^ak   Menon, Usha ^b   Kjaer, Susanne Krüger ^w   Gronwald, Jacek ^y   Garcia Closas, Montserrat ^q   Fasching, Peter A ^o,al   Easton, Douglas F ^a   Chenevix Trench, Georgia ^p   Berchuck, Andrew ^k   Pharoah, Paul D P ^a   Gayther, Simon A ^b   more..

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c NATIONAL CANCER INSTITUTE   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^f BRIGHAM AND WOMEN S HOSPITAL   (United States)

^g Gilda Radner Familial Ovarian Cancer Registry ^*  (United States)

^h HANNOVER MEDICAL SCHOOL   (Germany)

ⁱ Mayo Clinic   (United States)

^j UNIVERSITY OF HAWAII CANCER CENTER   (United States)

^k DUKE UNIVERSITY MEDICAL CENTER   (United States)

^l H LEE MOFFITT CANCER CENTER AND RESEARCH INSTITUTE   (United States)

^m CANCER EPIDEMIOLOGY CENTRE   (Australia)

ⁿ UNIVERSITY OF MELBOURNE   (Australia)

^o UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^p ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

^q AARHUS UNIVERSITY HOSPITAL   (Denmark)

^r Fred Hutchinson Cancer Research Center   (United States)

^s JENA UNIVERSITY HOSPITAL   (Germany)

^t UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^u ROYAL MARSDEN HOSPITAL   (United Kingdom)

^v Rigshospitalet   (Denmark)

^w INSTITUTE OF CANCER EPIDEMIOLOGY   (Denmark)

^x Duke University   (United States)

^y POMERANIAN MEDICAL UNIVERSITY   (Poland)

^z INSTITUTE OF ONCOLOGY   (Poland)

^aa STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^ab MOUNT SINAI HOSPITAL   (Canada)

^ac ROSWELL PARK CANCER INSTITUTE   (United States)

^ad UNIVERSITY OF TORONTO   (Canada)

^ae YALE UNIVERSITY   (United States)

^af UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^ag UNIVERSITY OF ULM   (Germany)

^ah UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^ai INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^aj UNIVERSITY OF OXFORD   (United Kingdom)

^ak UNIVERSITY OF TEXAS SCHOOL OF PUBLIC HEALTH   (United States)

^al UNIVERSITY OF CALIFORNIA   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUSTRALIA; CANCER RISK; CANCER SUSCEPTIBILITY; CHROMOSOME 9P; CONTROLLED STUDY; EUROPE; FEMALE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; OVARY CANCER; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; UNITED KINGDOM; UNITED STATES;

ALLELES; AUSTRALIA; BASE SEQUENCE; CASE-CONTROL STUDIES; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 9; CONFIDENCE INTERVALS; EUROPE; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HAPLOTYPES; HETEROZYGOTE; HOMOZYGOTE; HUMANS; LINKAGE DISEQUILIBRIUM; MOLECULAR SEQUENCE DATA; ODDS RATIO; OVARIAN NEOPLASMS; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; UNITED STATES;

EID: 69349102630     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.424     Document Type: Article

References (40)

1. Pharoah, P.D. & Ponder, B.A. The genetics of ovarian cancer. Best Pract. Res. Clin. Obstet. Gynaecol. 16, 449-468 (2002).
2. Stratton, J.F., Pharoah, P., Smith, S.K., Easton, D. & Ponder, B.A. A systematic review and meta-analysis of family history and risk of ovarian cancer. Br. J. Obstet. Gynaecol. 105, 493-499 (1998). (Pubitemid 28261378)
3. Antoniou, A.C. & Easton, D.F. Risk prediction models for familial breast cancer. Future Oncol. 2, 257-274 (2006).
4. Gayther, S.A. et al. The contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer: no evidence for other ovarian cancer-susceptibility genes. Am. J. Hum. Genet. 65, 1021-1029 (1999).
5. Pharoah, P.D., Antoniou, A.C., Easton, D.F. & Ponder, B.A. Polygenes, risk prediction, and targeted prevention of breast cancer. N. Engl. J. Med. 358, 2796-2803 (2008).
6. Easton, D.F. et al. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 447, 1087-1093 (2007).
7. Thomas, G. et al. Multiple loci identified in a genome-wide association study of prostate cancer. Nat. Genet. 40, 310-315 (2008). (Pubitemid 351311773)
8. Brown, K.M. et al. Common sequence variants on 20q11.22 confer melanoma susceptibility. Nat. Genet. 40, 838-840 (2008).
9. Eeles, R.A. et al. Multiple newly identified loci associated with prostate cancer susceptibility. Nat. Genet. 40, 316-321 (2008).
10. Gudbjartsson, D.F. et al. ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma. Nat. Genet. 40, 886-891 (2008).
11. Broderick, P. et al. A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk. Nat. Genet. 39, 1315-1317 (2007). (Pubitemid 350034998)
12. Yeager, M. et al. Genome-wide association study of prostate cancer identifies a second risk locus at 8q24. Nat. Genet. 39, 645-649 (2007). (Pubitemid 46676108)
13. de Bakker, P.I. et al. Practical aspects of imputation-driven meta-analysis of genomewide association studies. Hum. Mol. Genet. 17, R122-R128 (2008).
14. Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447, 661-678 (2007).
15. Vanhoutteghem, A. & Djian, P. Basonuclin 2: an extremely conserved homolog of the zinc finger protein basonuclin. Proc. Natl. Acad. Sci. USA 101, 3468-3473 (2004). (Pubitemid 38338218)
16. Vanhoutteghem, A. & Djian, P. The human basonuclin 2 gene has the potential to generate nearly 90,000 mRNA isoforms encoding over 2000 different proteins. Genomics 89, 44-58 (2007).
17. Stranger, B.E. et al. Population genomics of human gene expression. Nat. Genet. 39, 1217-1224 (2007).
18. Romano, R.A., Li, H., Tummala, R., Maul, R. & Sinha, S. Identification of Basonuclin2, a DNA-binding zinc-finger protein expressed in germ tissues and skin keratinocytes. Genomics 83, 821-833 (2004). (Pubitemid 38469924)
19. O'Driscoll, L. et al. Investigation of the molecular profile of basal cell carcinoma using whole genome microarrays. Mol. Cancer 5, 74 (2006). (Pubitemid 46189686)
20. Song, H. et al. Association between invasive ovarian cancer susceptibility and 11 best candidate SNPs from breast cancer genome-wide association study. Hum. Mol. Genet. 18, 2297-2304 (2009).
21. Quaye, L. et al. The effects of common genetic variants in oncogenes on ovarian cancer survival. Clin. Cancer Res. 14, 5833-5839 (2008). (Pubitemid 351302555)
22. Pearce, C.L. et al. Validating genetic risk associations for ovarian cancer through the international Ovarian Cancer Association Consortium. Br. J. Cancer 100, 412-420 (2009).
23. Schildkraut, J.M. et al. Single nucleotide polymorphisms in the TP53 region and susceptibility to invasive epithelial ovarian cancer. Cancer Res. 69, 2349-2357 (2009).
24. Ramus, S.J. et al. Consortium analysis of 7 candidate SNPs for ovarian cancer. Int. J. Cancer 123, 380-388 (2008).
25. Ghoussaini, M. et al. Multiple Loci with different cancer specificities within the 8q24 gene desert. J. Natl. Cancer Inst. 100, 962-966 (2008). (Pubitemid 351957516)
26. Song, H. et al. Association study of prostate cancer susceptibility variants with risks of invasive ovarian, breast, and colorectal cancer. Cancer Res. 68, 8837-8842 (2008).
27. Gayther, S.A. et al. Tagging single nucleotide polymorphisms in cell cycle control genes and susceptibility to invasive epithelial ovarian cancer. Cancer Res. 67, 3027-3035 (2007).
28. Song, H. et al. Tagging single nucleotide polymorphisms in the BRIP1 gene and susceptibility to breast and ovarian cancer. PLoS ONE 2, e268 (2007).
29. Easton, D.F. & Eeles, R.A. Genome-wide association studies in cancer. Hum. Mol. Genet. 17, R109-R115 (2008).
30. Rubin, S.C. et al. Clinical and pathological features of ovarian cancer in women with germ-line mutations of BRCA1. N. Engl. J. Med. 335, 1413-1416 (1996).
31. Lakhani, S.R. et al. Pathology of ovarian cancers in BRCA1 and BRCA2 carriers. Clin. Cancer Res. 10, 2473-2481 (2004).
32. Domanska, K., Malander, S., Masback, A. & Nilbert, M. Ovarian cancer at young age: the contribution of mismatch-repair defects in a population-based series of epithelial ovarian cancer before age 40. Int. J. Gynecol. Cancer 17, 789-793 (2007). (Pubitemid 47063326)
33. Tothill, R.W. et al. Novel molecular subtypes of serous and endometrioid ovarian cancer linked to clinical outcome. Clin. Cancer Res. 14, 5198-5208 (2008).
34. Lord, C.J. & Ashworth, A. Targeted therapy for cancer using PARP inhibitors. Curr. Opin. Pharmacol. 8, 363-369 (2008).
35. Drew, Y. & Calvert, H. The potential of PARP inhibitors in genetic breast and ovarian cancers. Ann. NY Acad. Sci. 1138, 136-145 (2008).
36. Houlston, R.S. et al. Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. Nat. Genet. 40, 1426-1435 (2008).
37. Sankararaman, S., Sridhar, S., Kimmel, G. & Halperin, E. Estimating local ancestry in admixed populations. Am. J. Hum. Genet. 82, 290-303 (2008). (Pubitemid 351726099)
38. Scheet, P. & Stephens, M. A fast and flexible statistical model for large-scale population genotype data: applications to inferring missing genotypes and haplotypic phase. Am. J. Hum. Genet. 78, 629-644 (2006).
39. Marchini, J., Howie, B., Myers, S., McVean, G. & Donnelly, P. A new multipoint method for genome-wide association studies by imputation of genotypes. Nat. Genet. 39, 906-913 (2007). (Pubitemid 47014502)
40. Udler, M.S. et al. FGFR2 variants and breast cancer risk: fine-scale mapping using African American studies and analysis of chromatin conformation. Hum. Mol. Genet. 18, 1692-1703 (2009).