Tagging single-nucleotide polymorphisms in candidate oncogenes and susceptibility to ovarian cancer

British Journal of Cancer

Volumn 100, Issue 6, 2009, Pages 993-1001

  Quaye, L ^a   Song, H ^b   Ramus, S J ^a   Gentry Maharaj, A ^a   Hogdall E ^c   DiCioccio, R A ^d   McGuire, V ^e   Wu, A H ^f   Van Den Berg, D J ^f   Pike, M C ^f   Wozniak, E ^a   Doherty, J A ^g   Rossing, M A ^g   Ness, R B ^h   Moysich, K B ^d   Hogdall C ⁱ   Blaakaer, J ^j   Easton, D F ^b   Ponder, B A J ^b   Jacobs, I J ^a   Menon, U ^a   Whittemore, A S ^f   Kruger Kjaer S ^c,i   Pearce, C L ^f   Pharoah, P D P ^b   Gayther, S A ^a   more..

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c INSTITUTE OF CANCER EPIDEMIOLOGY   (Denmark)

^d ROSWELL PARK CANCER INSTITUTE   (United States)

^e STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^g Fred Hutchinson Cancer Research Center   (United States)

^h UNIVERSITY OF PITTSBURGH CANCER INSTITUTE   (United States)

ⁱ UNIVERSITY OF COPENHAGEN   (Denmark)

^j AARHUS UNIVERSITY HOSPITAL   (Denmark)

more..

Author keywords

Association studies; Oncogene; Polymorphism; Risk of ovarian cancer

Indexed keywords

ADULT; AGED; ARTICLE; BRAF GENE; CANCER GENETICS; CANCER INVASION; CANCER RISK; CANCER SUSCEPTIBILITY; CARCINOGENESIS; CONTROLLED STUDY; DENMARK; DISEASE ASSOCIATION; ENDOMETRIOID CARCINOMA; ERBB2 GENE; FEMALE; GENETIC IDENTIFICATION; GENETIC VARIABILITY; GENOTYPE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; KRAS GENE; MAJOR CLINICAL STUDY; MUCINOUS CARCINOMA; NMI GENE; ONCOGENE; OVARY CANCER; PIK3CA GENE; POPULATION BASED CASE CONTROL STUDY; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TUMOR GENE; UNITED KINGDOM; UNITED STATES;

1-PHOSPHATIDYLINOSITOL 3-KINASE; ADULT; AGED; FEMALE; GENES, ERBB-2; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MIDDLE AGED; ONCOGENES; OVARIAN NEOPLASMS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS B-RAF; RAS PROTEINS;

EID: 62549126858     PISSN: 00070920     EISSN: 15321827     Source Type: Journal    
DOI: 10.1038/sj.bjc.6604947     Document Type: Article

References (49)

1. Antoniou AC, Easton DF (2006) Risk prediction models for familial breast cancer. Future Oncol 2: 257-274
2. Bao J, Zervos AS (1996) Isolation and characterization of Nmi, a novel partner of Myc proteins. Oncogene 12: 2171-2176
3. Barrett JC, Fry B, Maller J, Daly MJ (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21: 263-265
4. Cantley LC (2002) The phosphoinositide 3-kinase pathway. Science 296: 1655-1657
5. Cheng J, Randall A, Baldi P (2006) Prediction of protein stability changes for single-site mutations using support vector machines. Proteins 62: 1125-1132
6. Conde L, Vaquerizas JM, Dopazo H, Arbiza L, Reumers J, Rousseau F, Schymkowitz J, Dopazo J (2006) PupaSuite: finding functional single nucleotide polymorphisms for large-scale genotyping purposes. Nucleic Acids Res 34: W621-W625
7. Cuatrecasas M, Erill N, Musulen E, Costa I, Matias-Guiu X, Prat J (1998) K-ras mutations in nonmucinous ovarian epithelial tumors: a molecular analysis and clinicopathologic study of 144 patients. Cancer 82: 1088-1095
8. Cuatrecasas M, Villanueva A, Matias-Guiu X, Prat J (1997) K-ras mutations in mucinous ovarian tumors: a clinicopathologic and molecular study of 95 cases. Cancer 79: 1581-1586
9. de Bakker PI, Yelensky R, Pe'er I, Gabriel SB, Daly MJ, Altshuler D (2005) Efficiency and power in genetic association studies. Nat Genet 37: 1217-1223
10. Dicioccio RA, Song H, Waterfall C, Kimura MT, Nagase H, McGuire V, Hogdall E, Shah MN, Luben RN, Easton DF, Jacobs IJ, Ponder BA, Whittemore AS, Gayther SA, Pharoah PD, Kruger-Kjaer S (2004) STK15 polymorphisms and association with risk of invasive ovarian cancer. Cancer Epidemiol Biomarkers Prev 13: 1589-1594
11. Elmasry K, Gayther SA (2005) Somatic genetic mutations and clinical outcome in gynaecological cancers. Gynaecological Forum 10: 5-11
12. Ferrer-Costa C, Gelpi JL, Zamakola L, Parraga I, de la Cruz X, Orozco M (2005) PMUT: a web-based tool for the annotation of pathological mutations on proteins. Bioinformatics 21: 3176-3178
13. Forbes S, Clements J, Dawson E, Bamford S, Webb T, Dogan A, Flanagan A, Teague J, Wooster R, Futreal PA, Stratton MR (2006) Cosmic 2005. Br J Cancer 94: 318-322
14. Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Devilee P, Bishop DT, Weber B, Lenoir G, Chang-Claude J, Sobol H, Teare MD, Struewing J, Arason A, Scherneck S, Peto J, Rebbeck TR, Tonin P, Neuhausen S, Barkardottir R, Eyfjord J, Lynch H, Ponder BAJ, Gayther SA, Birch JM, Lindblom A, Stoppa-Lyonnet A, Bignon Y, Borg A, Hamann U, Haites N, Scott RJ, Maugard CM, Vasen H, Seitz S, Cannon-Albright LA, Schofield A, Zelada-Hedman M, and the Breast Cancer Linkage Consortium (1998) Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 62: 676-689
15. Fruman DA, Meyers RE, Cantley LC (1998) Phosphoinositide kinases. Annu Rev Biochem 67: 481-507
16. Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, DeFelice M, Lochner A, Faggart M, Liu-Cordero SN, Rotimi C, Adeyemo A, Cooper R, Ward R, Lander ES, Daly MJ, Altshuler D (2002) The structure of haplotype blocks in the human genome. Science 296: 2225-2229
17. Gayther SA, Russell P, Harrington P, Antoniou AC, Easton DF, Ponder BA (1999) 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
18. Gayther SA, Song H, Ramus SJ, Kjaer SK, Whittemore AS, Quaye L, Tyrer J, Shadforth D, Hogdall E, Hogdall C, Blaeker J, DiCioccio R, McGuire V, Webb PM, Beesley J, Green AC, Whiteman DC, Goodman MT, Lurie G, Carney ME, Modugno F, Ness RB, Edwards RP, Moysich KB, Goode EL, Couch FJ, Cunningham JM, Sellers TA, Wu AH, Pike MC, Iversen ES, Marks JR, Garcia-Closas M, Brinton L, Lissowska J, Peplonska B, Easton DF, Jacobs I, Ponder BA, Schildkraut J, Pearce CL, Chenevix-Trench G, Berchuck A, Pharoah PD (2007) Tagging single nucleotide polymorphisms in cell cycle control genes and susceptibility to invasive epithelial ovarian cancer. Cancer Res 67: 3027-3035
19. Gemignani ML, Schlaerth AC, Bogomolniy F, Barakat RR, Lin O, Soslow R, Venkatraman E, Boyd J (2003) Role of KRAS and BRAF gene mutations in mucinous ovarian carcinoma. Gynecol Oncol 90: 378-381
20. Ghoussaini M, Song H, Koessler T, Al Olama AA, Kote-Jarai Z, Driver KE, Pooley KA, Ramus SJ, Kjaer SK, Hogdall E, DiCioccio RA, Whittemore AS, Gayther SA, Giles GG, Guy M, Edwards SM, Morrison J, Donovan JL, Hamdy FC, Dearnaley DP, Ardern-Jones AT, Hall AL, O'Brien LT, Gehr-Swain BN, Wilkinson RA, Brown PM, Hopper JL, Neal DE, Pharoah PD, Ponder BA, Eeles RA, Easton DF, Dunning AM (2008) Multiple loci with different cancer specificities within the 8q24 gene desert. J Natl Cancer Inst 100: 962-966
21. Hellstrom I, Goodman G, Pullman J, Yang Y, Hellstrom KE (2001) Overexpression of HER-2 in ovarian carcinomas. Cancer Res 61: 2420-2423
22. Hogdall EV, Hogdall CK, Blaakaer J, Christensen L, Bock JE, Vuust J, Glud E, Kjaer SK (2003a) K-ras alterations in Danish ovarian tumour patients. From the Danish 'Malova' Ovarian Cancer study. Gynecol Oncol 89: 31-36
23. Hogdall EV, Christensen L, Kjaer SK, Blaakaer J, Bock JE, Glud E, Norgaard-Pedersen B, Hogdall CK (2003b) Distribution of HER-2 overexpression in ovarian carcinoma tissue and its prognostic value in patients with ovarian carcinoma: from the Danish MALOVA Ovarian Cancer Study. Cancer 98: 66-73
24. Lakhani SR, Manek S, Penault-Llorca F, Flanagan A, Arnout L, Merrett S, McGuffog L, Steele D, Devilee P, Klijn JG, Meijers-Heijboer H, Radice P, Pilotti S, Nevanlinna H, Butzow R, Sobol H, Jacquemier J, Lyonet DS, Neuhausen SL, Weber B, Wagner T, Winqvist R, Bignon YJ, Monti F, Schmitt F, Lenoir G, Seitz S, Hamman U, Pharoah P, Lane G, Ponder B, Bishop DT, Easton DF (2004) Pathology of ovarian cancers in BRCA1 and BRCA2 carriers. Clin Cancer Res 10: 2473-2481
25. Li H, Lee TH, Avraham H (2002) A novel tricomplex of BRCA1, Nmi, and c-Myc inhibits c-Myc-induced human telomerase reverse transcriptase gene (hTERT) promoter activity in breast cancer. J Biol Chem 277: 20965-20973
26. Lichtenstein P, Holm NV, Verkasalo PK, Iliadou A, Kaprio J, Koskenvuo M, Pukkala E, Skytthe A, Hemminki K (2000) Environmental and heritable factors in the causation of cancer - analyses of cohorts of twins from Sweden, Denmark, and Finland. N Engl J Med 343: 78-85
27. Muller CI, Miller CW, Hofmann WK, Gross ME, Walsh CS, Kawamata N, Luong QT, Koeffler HP (2007) Rare mutations of the PIK3CA gene in malignancies of the hematopoietic system as well as endometrium, ovary, prostate and osteosarcomas, and discovery of a PIK3CA pseudogene. Leuk Res 31: 27-32
28. Parkin DM, Bray F, Ferlay J, Pisani P (2005) Global cancer statistics, 2002. CA Cancer J Clin 55: 74-108
29. Pearce CL, Hirschhorn JN, Wu AH, Burtt NP, Stram DO, Young S, Kolonel LN, Henderson BE, Altshuler D, Pike MC (2005) Clarifying the PROGINS allele association in ovarian and breast cancer risk: a haplotype-based analysis. J Natl Cancer Inst 97: 51-59
30. Pearce CL, Wu AH, Gayther SA, Bale AE, Australian Cancer Study (Ovarian Cancer) and Australian Cancer Study Group, Beck PA, Beesley J, Chanock S, Cramer DW, DiCioccio R, Edwards R, Fredericksen ZS, Garcia-Closas M, Goode EL, Green AC, Hartmann LC, Hogdall E, Kjaer SK, Lissowska J, McGuire V, Modugno F, Moysich K, Ness RB, Ramus SJ, Risch HA, Sellers TA, Song H, Stram DO, Terry KL, Webb PM, Whiteman DC, Whittemore AS, Zheng W, Pharoah PD, Chenevix-Trench G, Pike MC, Schildkraut J, Berchuck A, Ovarian Cancer Association Consortium (2008) Progesterone receptor variation and risk of ovarian cancer is limited to the invasive endometrioid subtype: results from the Ovarian Cancer Association Consortium pooled analysis. Br J Cancer 98: 282-288
31. Pharoah PD, Antoniou A, Bobrow M, Zimmern RL, Easton DF, Ponder BA (2002) Polygenic susceptibility to breast cancer and implications for prevention. Nat Genet 31: 33-36
32. Ramus SJ, Harrington PA, Pye C, Peock S, Cook MR, Cox MJ, Jacobs IJ, DiCioccio RA, Whittemore AS, Piver MS, EMBRACE, Easton DF, Ponder BA, Pharoah PD, Gayther SA (2007) Screening for the BRCA1-ins6kbEx13 mutation: potential for misdiagnosis. Mutation in brief #964. Online. Hum Mutat 28: 525-526
33. Ramus SJ, Vierkant RA, Johnatty SE, Pike MC, Van Den Berg DJ, Wu AH, Pearce CL, Menon U, Gentry-Maharaj A, Gayther SA, Dicioccio RA, McGuire V, Whittemore AS, Song H, Easton DF, Pharoah PD, Garcia-Closas M, Chanock S, Lissowska J, Brinton L, Terry KL, Cramer DW, Tworoger SS, Hankinson SE, Berchuck A, Moorman PG, Schildkraut JM, Cunningham JM, Liebow M, Kjaer SK, Hogdall E, Hogdall C, Blaakaer J, Ness RB, Moysich KB, Edwards RP, Carney ME, Lurie G, Goodman MT, Wang-Gohrke S, Kropp S, Chang-Claude J, Webb PM, Chen X, Beesley J, Chenevix-Trench G, Goode EL (2008) Consortium analysis of 7 candidate SNPs for ovarian cancer. Int J Cancer 123: 380-388
34. Reumers J, Conde L, Medina I, Maurer-Stroh S, Van Durme J, Dopazo J, Rousseau F, Schymkowitz J (2008) Joint annotation of coding and non-coding single nucleotide polymorphisms and mutations in the SNPeffect and PupaSuite databases. Nucleic Acids Res 36: D825-D829
35. Rhim JS (1988) Viruses, oncogenes, and cancer. Cancer Detect Prev 11: 139-149
36. Rossing MA, Cushing-Haugen KL, Wicklund KG, Doherty JA, Weiss NS (2007) Menopausal hormone therapy and risk of epithelial ovarian cancer. Cancer Epidemiol Biomarkers Prev 16: 2548-2556
37. Russell SE, McCluggage WG (2004) A multistep model for ovarian tumorigenesis: the value of mutation analysis in the KRAS and BRAF genes. J Pathol 203: 617-619
38. Shayesteh L, Lu Y, Kuo WL, Baldocchi R, Godfrey T, Collins C, Pinkel D, Powell B, Mills GB, Gray JW (1999) PIK3CA is implicated as an oncogene in ovarian cancer. Nat Genet 21: 99-102
39. Sieben NL, Macropoulos P, Roemen GM, Kolkman-Uljee SM, Jan Fleuren G, Houmadi R, Diss T, Warren B, Al Adnani M, De Goeij AP, Krausz T, Flanagan AM (2004) In ovarian neoplasms, BRAF, but not KRAS, mutations are restricted to low-grade serous tumours. J Pathol 202: 336-340
40. Song H, Ramus SJ, Kjaer SK, Hogdall E, Dicioccio RA, Whittemore AS, McGuire V, Hogdall C, Jacobs IJ, Easton DF, Ponder BA, Dunning AM, Gayther SA, P DPP (2007) Tagging single nucleotide polymorphisms in the BRIP1 gene and susceptibility to breast and ovarian cancer. PLoS ONE 2: e268
41. Song H, Ramus SJ, Shadforth D, Quaye L, Kjaer SK, Dicioccio RA, Dunning AM, Hogdall E, Hogdall C, Whittemore AS, McGuire V, Lesueur F, Easton DF, Jacobs IJ, Ponder BA, Gayther SA, Pharoah PD (2006) Common variants in RB1 gene and risk of invasive ovarian cancer. Cancer Res 66: 10220-10226
42. Stram DO, Haiman CA, Hirschhorn JN, Altshuler D, Kolonel LN, Henderson BE, Pike MC (2003) Choosing haplotype-tagging SNPS based on unphased genotype data using a preliminary sample of unrelated subjects with an example from the Multiethnic Cohort Study. Hum Hered 55: 27-36
43. Stratton JF, Gayther SA, Russell P, Dearden J, Gore M, Blake P, Easton D, Ponder BA (1997) Contribution of BRCA1 mutations to ovarian cancer. N Engl J Med 336: 1125-1130
44. Thomas DC, Haile RW, Duggan D (2005) Recent developments in genomewide association scans: a workshop summary and review. Am J Hum Genet 77: 337-345
45. Volinia S, Hiles I, Ormondroyd E, Nizetic D, Antonacci R, Rocchi M, Waterfield MD (1994) Molecular cloning, cDNA sequence, and chromosomal localization of the human phosphatidylinositol 3-kinase p110 alpha (PIK3CA) gene. Genomics 24: 472-477
46. Wu Y, Soslow RA, Marshall DS, Leitao M, Chen B (2004) Her-2/neu expression and amplification in early stage ovarian surface epithelial neoplasms. Gynecol Oncol 95: 570-575
47. Zaykin DV, Westfall PH, Young SS, Karnoub MA, Wagner MJ, Ehm MG (2002) Testing association of statistically inferred haplotypes with discrete and continuous traits in samples of unrelated individuals. Hum Hered 53: 79-91
48. Zhao ZZ, Nyholt DR, Le L, Martin NG, James MR, Treloar SA, Montgomery GW (2006) KRAS variation and risk of endometriosis. Mol Hum Reprod 12: 671-676
49. Zhu M, John S, Berg M, Leonard WJ (1999) Functional association of Nmi with Stat5 and Stat1 in IL-2- and IFNgamma-mediated signaling. Cell 96: 121-130