Molecular Oncology
Volume 3, Issue 2 , Pages 171-181 , April 2009

Role of genetic polymorphisms and ovarian cancer susceptibility

  • Peter A. Fasching

      Affiliations

    • University of California at Los Angeles, David Geffen School of Medicine, Division of Hematology and Oncology, Los Angeles, CA, USA
    • Corresponding Author InformationCorresponding author.
    • ,
  • Simon Gayther

      Affiliations

    • Translational Research Laboratory, University College London EGA Institute for Women's Health, London, United Kingdom
    • ,
  • Leigh Pearce

      Affiliations

    • University of Southern California, Keck School of Medicine, Los Angeles, CA, USA
    • ,
  • Joellen M. Schildkraut

      Affiliations

    • Department of Community and Family Medicine, Duke University Medical Center, Durham, NC, USA
    • ,
  • Ellen Goode

      Affiliations

    • College of Medicine, Mayo Clinic, Rochester, MN, USA
    • ,
  • Falk Thiel

      Affiliations

    • Department of Gynecology and Obstetrics, University Hospital Erlangen, Bavaria, Germany
    • ,
  • Georgia Chenevix-Trench

      Affiliations

    • The Queensland Institute of Medical Research, Post Office Royal Brisbane Hospital, Australia
    • ,
  • Jenny Chang-Claude

      Affiliations

    • Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany
    • ,
  • Shan Wang-Gohrke

      Affiliations

    • Department of Gynecology and Obstetrics, University Hospital Ulm, Germany
    • ,
  • Susan Ramus

      Affiliations

    • College of Medicine, Mayo Clinic, Rochester, MN, USA
    • ,
  • Paul Pharoah

      Affiliations

    • Cancer Research United Kingdom, Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom
    • ,
  • Andrew Berchuck

      Affiliations

    • Department of Obstetrics and Gynecology, Duke University Medical Center, Durham, NC, USA
    • ,
  • for the OCAC (Ovarian Cancer Association Consortium)

Received 1 January 2009 ,Accepted 28 January 2009.

References 

  1. Agorastos T, Masouridou S, Lambropoulos AF, Chrisafi S, Miliaras D, Pantazis K, et al. P53 codon 72 polymorphism and correlation with ovarian and endometrial cancer in Greek women. Eur. J. Cancer Prev. 2004;13:277–280
  2. Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am. J. Hum. Genet. 2003;72:1117–1130
  3. Auranen A, Song H, Waterfall C, Dicioccio RA, Kuschel B, Kjaer SK, et al. Polymorphisms in DNA repair genes and epithelial ovarian cancer risk. Int. J. Cancer. 2005;117:611–618
  4. Beesley J, Jordan SJ, Spurdle AB, Song H, Ramus SJ, Kjaer SK, et al. Association between single-nucleotide polymorphisms in hormone metabolism and DNA repair genes and epithelial ovarian cancer: results from two Australian studies and an additional validation set. Cancer Epidemiol. Biomarkers Prev. 2007;16:2557–2565
  5. Berchuck A, Schildkraut JM, Marks JR, Futreal PA. Managing hereditary ovarian cancer risk. Cancer. 1999;86:2517–2524
  6. Bernard-Gallon D, Bosviel R, Delort L, Fontana L, Chamoux A, Rabiau N, et al. DNA repair gene ERCC2 polymorphisms and associations with breast and ovarian cancer risk. Mol. Cancer. 2008;7:36
  7. Campbell IG, Eccles DM, Choong DY. No association of the MDM2 SNP309 polymorphism with risk of breast or ovarian cancer. Cancer Lett. 2006;240:195–197
  8. Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, et al. Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat. Genet. 1999;22:231–238
  9. Carlson CS, Eberle MA, Kruglyak L, Nickerson DA. Mapping complex disease loci in whole-genome association studies. Nature. 2004;429:446–452
  10. Couch FJ, Weber BL. Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Breast Cancer Information Core. Hum. Mutat. 1996;8:8–18
  11. Dalan AB, Ergen A, Yilmaz H, Karateke A, Isbir T. Manganese superoxide dismutase gene polymorphism, MnSOD plasma levels and risk of epithelial ovarian cancer. J. Obstet. Gynaecol. Res. 2008;34:878–884
  12. De Vivo I, Hankinson SE, Colditz GA, Hunter DJ. A functional polymorphism in the progesterone receptor gene is associated with an increase in breast cancer risk. Cancer Res. 2003;63:5236–5238
  13. De Vivo I, Huggins GS, Hankinson SE, Lescault PJ, Boezen M, Colditz GA, et al. A functional polymorphism in the promoter of the progesterone receptor gene associated with endometrial cancer risk. Proc. Natl. Acad. Sci. U.S.A. 2002;99:12263–12268
  14. Dunning AM, Dowsett M, Healey CS, Tee L, Luben RN, Folkerd E, et al. Polymorphisms associated with circulating sex hormone levels in postmenopausal women. J. Natl. Cancer Inst. 2004;96:936–945
  15. Fairfield KM, Hunter DJ, Fuchs CS, Colditz GA, Hankinson SE. Aspirin, other NSAIDs, and ovarian cancer risk (United States). Cancer Causes Control. 2002;13:535–542
  16. Fasching PA, Loehberg CR, Strissel PL, Lux MP, Bani MR, Schrauder M, et al. Single nucleotide polymorphisms of the aromatase gene (CYP19A1), HER2/neu status, and prognosis in breast cancer patients. Breast Cancer Res. Treat. 2008;112:89–98
  17. Frank TS, Manley SA, Olopade OI, Cummings S, Garber JE, Bernhardt B, et al Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk. J. Clin. Oncol. 1998;16:2417–2425
  18. Gayther SA, Song H, Ramus SJ, Kjaer SK, Whittemore AS, Quaye L, et al. Tagging single nucleotide polymorphisms in cell cycle control genes and susceptibility to invasive epithelial ovarian cancer. Cancer Res. 2007;67:3027–3035
  19. Giangrande PH, Kimbrel EA, Edwards DP, McDonnell DP. The opposing transcriptional activities of the two isoforms of the human progesterone receptor are due to differential cofactor binding. Mol. Cell. Biol. 2000;20:3102–3115
  20. Goodman MT, Ferrell R, McDuffie K, Thompson PJ, Wilkens LR, Bushley AW, et al. Calcitonin gene polymorphism CALCA-624 (T/C) and ovarian cancer. Environ. Mol. Mutagen. 2005;46:53–58
  21. Goodman MT, Lurie G, Thompson PJ, McDuffie KE, Carney ME. Association of two common single-nucleotide polymorphisms in the CYP19A1 locus and ovarian cancer risk. Endocr. Relat. Cancer. 2008;15:1055–1060
  22. Grimm C, Polterauer S, Zeillinger R, Tempfer C, Sliutz G, Reinthaller A, et al. The prohibitin 3′ untranslated region polymorphism in patients with ovarian cancer. Eur. J. Obstet. Gynecol. Reprod. Biol. 2008;137:236–239
  23. Haiman CA, Dossus L, Setiawan VW, Stram DO, Dunning AM, Thomas G, et al. Genetic variation at the CYP19A1 locus predicts circulating estrogen levels but not breast cancer risk in postmenopausal women. Cancer Res. 2007;67:1893–1897
  24. Jakubowska A, Gronwald J, Menkiszak J, Gorski B, Huzarski T, Byrski T, et al. Integrin beta3 Leu33Pro polymorphism increases BRCA1-associated ovarian cancer risk. J. Med. Genet. 2007;44:408–411
  25. Ju W, Kim JW, Park NH, Song YS, Kim SC, Kang SB, et al. Matrix metalloproteinase-1 promoter polymorphism and epithelial ovarian cancer: does ethnicity matter?. J. Obstet. Gynaecol. Res. 2007;33:155–160
  26. Kelemen L, Spurdle AB, Purdie DM, Gertig D, Chenevix-Trench G. RAD52 Y415X truncation polymorphism and epithelial ovarian cancer risk in Australian women. Cancer Lett. 2005;218:191–197
  27. Kelemen LE, Sellers TA, Schildkraut JM, Cunningham JM, Vierkant RA, Pankratz VS, et al. Genetic variation in the one-carbon transfer pathway and ovarian cancer risk. Cancer Res. 2008;68:2498–2506
  28. Lefkowitz ES, Garland CF. Sunlight, vitamin D, and ovarian cancer mortality rates in US women. Int. J. Epidemiol. 1994;23:1133–1136
  29. Leite DB, Junqueira MG, de Carvalho CV, Massad-Costa AM, Goncalves WJ, Nicolau SM, et al. Progesterone receptor (PROGINS) polymorphism and the risk of ovarian cancer. Steroids. 2008;73:676–680
  30. Li Y, Jin X, Kang S, Wang Y, Du H, Zhang J, et al. Polymorphisms in the promoter regions of the matrix metalloproteinases-1, -3, -7, and -9 and the risk of epithelial ovarian cancer in China. Gynecol. Oncol. 2006;101:92–96
  31. Li Y, Liang J, Kang S, Dong Z, Wang N, Xing H, et al. E-cadherin gene polymorphisms and haplotype associated with the occurrence of epithelial ovarian cancer in Chinese. Gynecol. Oncol. 2008;108:409–414
  32. Lichtenstein P, Holm NV, Verkasalo PK, Iliadou A, Kaprio J, Koskenvuo M, et al. Environmental and heritable factors in the causation of cancer – analyses of cohorts of twins from Sweden, Denmark, and Finland. N. Engl. J. Med. 2000;343:78–85
  33. Long JR, Kataoka N, Shu XO, Wen W, Gao YT, Cai Q, et al. Genetic polymorphisms of the CYP19A1 gene and breast cancer survival. Cancer Epidemiol. Biomarkers Prev. 2006;15:2115–2122
  34. Merritt MA, Green AC, Nagle CM, Webb PM. Talcum powder, chronic pelvic inflammation and NSAIDs in relation to risk of epithelial ovarian cancer. Int. J. Cancer. 2008;122:170–176
  35. Nam EJ, Kim YT. Alteration of cell-cycle regulation in epithelial ovarian cancer. Int. J. Gynecol. Cancer. 2008;
  36. National Institutes of Health . Policy for sharing of data obtained in NIH supported or conducted genome-wide association studies (GWAS). Fed. Regist. 2007;72:49290–49297
  37. Ness RB. Endometriosis and ovarian cancer: thoughts on shared pathophysiology. Am. J. Obstet. Gynecol. 2003;189:280–294
  38. Pearce CL, Wu AH, Gayther SA, Bale AE, Beck PA, Beesley J, et al. 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. 2008;98:282–288
  39. Pike MC, Pearce CL, Peters R, Cozen W, Wan P, Wu AH. Hormonal factors and the risk of invasive ovarian cancer: a population-based case–control study. Fertil. Steril. 2004;82:186–195
  40. Pharoah PD, Antoniou AC, Easton DF, Ponder BA. Polygenes, risk prediction, and targeted prevention of breast cancer. N. Engl. J. Med. 2008;358:2796–2803
  41. Ramus SJ, Vierkant RA, Johnatty SE, Pike MC, Van Den Berg DJ, Wu AH, et al. Consortium analysis of 7 candidate SNPs for ovarian cancer. Int. J. Cancer. 2008;123:380–388
  42. Risch HA. Hormonal etiology of epithelial ovarian cancer, with a hypothesis concerning the role of androgens and progesterone. J. Natl. Cancer Inst. 1998;90:1774–1786
  43. Risch N, Merikangas K. The future of genetic studies of complex human diseases. Science. 1996;273:1516–1517
  44. Rodriguez GC, Nagarsheth NP, Lee KL, Bentley RC, Walmer DK, Cline M, et al. Progestin-induced apoptosis in the Macaque ovarian epithelium: differential regulation of transforming growth factor-beta. J. Natl. Cancer Inst. 2002;94:50–60
  45. Rodriguez GC, Walmer DK, Cline M, Krigman H, Lessey BA, Whitaker RS, et al. Effect of progestin on the ovarian epithelium of macaques: cancer prevention through apoptosis?. J. Soc. Gynecol. Investig. 1998;5:271–276
  46. Sachidanandam R, Weissman D, Schmidt SC, Kakol JM, Stein LD, Marth G, et al. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature. 2001;409:928–933
  47. Schildkraut JM, Calingaert B, Marchbanks PA, Moorman PG, Rodriguez GC. Impact of progestin and estrogen potency in oral contraceptives on ovarian cancer risk. J. Natl. Cancer Inst. 2002;94:32–38
  48. Schildkraut JM, Schwingl PJ, Bastos E, Evanoff A, Hughes C. Epithelial ovarian cancer risk among women with polycystic ovary syndrome. Obstet. Gynecol. 1996;88:554–559
  49. Sellers TA, Huang Y, Cunningham J, Goode EL, Sutphen R, Vierkant RA, et al. Association of single nucleotide polymorphisms in glycosylation genes with risk of epithelial ovarian cancer. Cancer Epidemiol. Biomarkers Prev. 2008;17:397–404
  50. Shattuck-Eidens D, Oliphant A, McClure M, McBride C, Gupte J, Rubano T, et al BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing. JAMA. 1997;278:1242–1250
  51. Shen J, Ambrosone CB, DiCioccio RA, Odunsi K, Lele SB, Zhao H. A functional polymorphism in the miR-146a gene and age of familial breast/ovarian cancer diagnosis. Carcinogenesis. 2008;29:1963–1966
  52. Song H, Koessler T, Ahmed S, Ramus SJ, Kjaer SK, Dicioccio RA, et al. Association study of prostate cancer susceptibility variants with risks of invasive ovarian, breast, and colorectal cancer. Cancer Res. 2008;68:8837–8842
  53. Song H, Ramus SJ, Kjaer SK, Hogdall E, Dicioccio RA, Whittemore AS, et al. Tagging single nucleotide polymorphisms in the BRIP1 gene and susceptibility to breast and ovarian cancer. PLoS ONE. 2007;2:e268
  54. Song H, Ramus SJ, Quaye L, DiCioccio RA, Tyrer J, Lomas E, et al. Common variants in mismatch repair genes and risk of invasive ovarian cancer. Carcinogenesis. 2006;27:2235–2242
  55. Song H, Ramus SJ, Shadforth D, Quaye L, Kjaer SK, Dicioccio RA, et al. Common variants in RB1 gene and risk of invasive ovarian cancer. Cancer Res. 2006;66:10220–10226
  56. Spillman MA, Schildkraut JM, Halabi S, Moorman P, Calingaert B, Bentley RC, et al. Transforming growth factor beta receptor I polyalanine repeat polymorphism does not increase ovarian cancer risk. Gynecol. Oncol. 2005;97:543–549
  57. Szabo CI, King MC. Population genetics of BRCA1 and BRCA2. Am. J. Hum. Genet. 1997;60:1013–1020
  58. The International HapMap Project . The International HapMap Project. Nature. 2003;426:789–796
  59. Thompson E, Dragovic RL, Stephenson SA, Eccles DM, Campbell IG, Dobrovic A. A novel duplication polymorphism in the FANCA promoter and its association with breast and ovarian cancer. BMC Cancer. 2005;5:43
  60. Thorisson GA, Smith AV, Krishnan L, Stein LD. The International HapMap Project web site. Genome Res. 2005;15:1592–1593
  61. Wacholder S, Chanock S, Garcia-Closas M, El Ghormli L, Rothman N. Assessing the probability that a positive report is false: an approach for molecular epidemiology studies. J. Natl. Cancer Inst. 2004;96:434–442
  62. Whittemore AS, Harris R, Itnyre J. Characteristics relating to ovarian cancer risk: collaborative analysis of 12 US case–control studies. II. Invasive epithelial ovarian cancers in white women. Collaborative Ovarian Cancer Group. Am. J. Epidemiol. 1992;136:1184–1203
  63. Yan L, Na W, Shan K, Xiao-Wei M, Wei G, Shu-Cheng C. p16(CDKN2) gene polymorphism: association with histologic subtypes of epithelial ovarian cancer in China. Int. J. Gynecol. Cancer. 2008;18:30–35

PII: S1574-7891(09)00024-6

doi: 10.1016/j.molonc.2009.01.008

Molecular Oncology
Volume 3, Issue 2 , Pages 171-181 , April 2009

Article Tools