Analyze association of the progesterone receptor gene polymorphism PROGINS with ovarian cancer risk

Molecular Biology Reports

Volumn 40, Issue 10, 2013, Pages 6001-6010

  Yuan, Cunzhong ^a   Wang, Cunfang ^b   Liu, Xiaoyan ^a   Kong, Beihua ^a  

^a SHANDONG UNIVERSITY   (China)

^b Shandong Polytechnic University   (China)

Author keywords

Gene polymorphism; Meta Analysis; Ovarian cancer; Progesterone receptor gene; PROGINS

Indexed keywords

PROGESTERONE RECEPTOR;

AFRICAN AMERICAN; ARTICLE; ASIAN; CANCER RISK; CANCER SUSCEPTIBILITY; CASE CONTROL STUDY; CAUCASIAN; CONTROLLED STUDY; DNA POLYMORPHISM; ETHNICITY; FEMALE; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; ONCOGENE; OVARY CANCER; PROGESTERONE RECEPTOR GENE;

CASE-CONTROL STUDIES; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MODELS, GENETIC; OVARIAN NEOPLASMS; POLYMORPHISM, GENETIC; PUBLICATION BIAS; RECEPTORS, PROGESTERONE; RISK FACTORS;

EID: 84892733052     PISSN: 03014851     EISSN: 15734978     Source Type: Journal    
DOI: 10.1007/s11033-013-2709-x     Document Type: Article

References (45)

1. Siegel R, Naishadham D, Jemal A (2012) Cancer statistics, 2012. CA Cancer J Clin 62(1):10-29. doi:10.3322/caac.20138
2. Risch HA (1998) Hormonal etiology of epithelial ovarian cancer, with a hypothesis concerning the role of androgens and progesterone. J Natl Cancer Inst 90(23):1774-1786
3. Meindl A, Hellebrand H, Wiek C, Erven V, Wappenschmidt B, Niederacher D, Freund M, Lichtner P, Hartmann L, Schaal H, Ramser J, Honisch E, Kubisch C, Wichmann HE, Kast K, Deissler H, Engel C, Muller-Myhsok B, Neveling K, Kiechle M, Mathew CG, Schindler D, Schmutzler RK, Hanenberg H (2010) Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet 42(5):410-414. doi:10.1038/ng.569
4. Loveday C, Turnbull C, Ramsay E, Hughes D, Ruark E, Frankum JR, Bowden G, Kalmyrzaev B, Warren-Perry M, Snape K, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Shanley S, Walker L, Eccles D, Evans DG, Renwick A, Seal S, Lord CJ, Ashworth A, Reis-Filho JS, Antoniou AC, Rahman N (2011) Germline mutations in RAD51D confer susceptibility to ovarian cancer. Nat Genet 43(9):879-882. doi:10.1038/ng.893ng.893
5. Yin J, Lu K, Lin J, Wu L, Hildebrandt MA, Chang DW, Meyer L, Wu X, Liang D (2011) Genetic variants in TGF-beta pathway are associated with ovarian cancer risk. PLoS ONE 6(9):e25559. doi:10.1371/journal.pone.0025559
6. Ma X, Zhang J, Liu S, Huang Y, Chen B, Wang D (2011) Polymorphisms in the CASP8 gene and the risk of epithelial ovarian cancer. Gynecol Oncol 122(3):554-559. doi:10.1016/j. ygyno.2011.05.031
7. Permuth-Wey J, Kim D, Tsai YY, Lin HY, Chen YA, Barnholtz-Sloan J, Birrer MJ, Bloom G, Chanock SJ, Chen Z, Cramer DW, Cunningham JM, Dagne G, Ebbert-Syfrett J, Fenstermacher D, Fridley BL, Garcia-Closas M, Gayther SA, Ge W, Gentry-Maharaj A, Gonzalez-Bosquet J, Goode EL, Iversen E, Jim H, Kong W, McLaughlin J, Menon U, Monteiro AN, Narod SA, Pharoah PD, Phelan CM, Qu X, Ramus SJ, Risch H, Schildkraut JM, Song H, Stockwell H, Sutphen R, Terry KL, Tyrer J, Vierkant RA, Wentzensen N, Lancaster JM, Cheng JQ, Sellers TA (2011) LIN28B polymorphisms influence susceptibility to epithelial ovarian cancer. Cancer Res 71(11):3896-3903. doi:10.1158/0008-5472.CAN-10-4167
8. Braem MG, Schouten LJ, Peeters PH, den Brandt PA, Onland-Moret NC (1816) Genetic susceptibility to sporadic ovarian cancer: a systematic review. Biochim Biophys Acta 2:132-146. doi:10.1016/j.bbcan.2011.05.002
9. Pelttari LM, Heikkinen T, Thompson D, Kallioniemi A, Schleutker J, Holli K, Blomqvist C, Aittomaki K, Butzow R, Nevanlinna H (2011) RAD51C is a susceptibility gene for ovarian cancer. Hum Mol Genet 20(16):3278-3288. doi:10.1093/hmg/ddr229
10. Ramus SJ, Antoniou AC, Kuchenbaecker KB, Soucy P, Beesley J, Chen X, McGuffog L, Sinilnikova OM, Healey S, Barrowdale D, Lee A, Thomassen M, Gerdes AM, Kruse TA, Jensen UB, Skytte AB, Caligo MA, Liljegren A, Lindblom A, Olsson H, Kristoffersson U, Stenmark-Askmalm M, Melin B, Domchek SM, Nathanson KL, Rebbeck TR, Jakubowska A, Lubinski J, Jaworska K, Durda K, Zlowocka E, Gronwald J, Huzarski T, Byrski T, Cybulski C, Toloczko-Grabarek A, Osorio A, Benitez J, Duran M, Tejada MI, Hamann U, Rookus M, van Leeuwen FE, Aalfs CM, Meijers-Heijboer HE, van Asperen CJ, van Roozendaal KE, Hoogerbrugge N, Margriet Collee J, Kriege M, van der Luijt RB, Peock S, Frost D, Ellis SD, Platte R, Fineberg E, Evans DG, Lalloo F, Jacobs C, Eeles R, Adlard J, Davidson R, Eccles D, Cole T, Cook J, Paterson J, Douglas F, Brewer C, Hodgson S, Morrison PJ, Walker L, Porteous ME, Kennedy MJ, Pathak H, Godwin AK, Stoppa-Lyonnet D, Caux-Moncoutier V, de Pauw A, Gauthier-Villars M, Mazoyer S, Leone M, Calender A, Lasset C, Bonadona V, Hardouin A, Berthet P, Bignon YJ, Uhrhammer N, Faivre L, Loustalot C, Buys S, Daly M, Miron A, Beth Terry M, Chung W, John EM, Southey M, Goldgar D, Singer CF, Tea Maria MK, Pfeiler G, Fink-Retter A, Hansen TV, Ejlertsen B, Johannsson OT, Offit K, Kirchhoff T, Gaudet MM, Vijai J, Robson M, Piedmonte M, Phillips KA, Van Le L, Hoffman JS, Toland AE, Montagna M, Tognazzo S, Imyanitov E, Isaacs C, Janavicius R, Lazaro C, Blanco I, Tornero E, Navarro M, Moysich KB, Karlan BY, Gross J, Olah E, Vaszko T, Teo SH, Ganz PA, Beattie MS, Dorfling CM, van Rensburg EJ, Diez O, Kwong A, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ditsch N, Arnold N, Heidemann S, Niederacher D, Preisler-Adams S, Gadzicki D, Varon-Mateeva R, Deissler H, Gehrig A, Sutter C, Kast K, Fiebig B, Schafer D, Caldes T, de la Hoya M, Nevanlinna H, Aittomaki K, Plante M, Spurdle AB, Neuhausen SL, Ding YC, Wang X, Lindor N, Fredericksen Z, Pankratz VS, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Bonanni B, Bernard L, Dolcetti R, Papi L, Ottini L, Radice P, Greene MH, Mai PL, Andrulis IL, Glendon G, Ozcelik H, Pharoah PD, Gayther SA, Simard J, Easton DF, Couch FJ, Chenevix-Trench G (2012) Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers. Hum Mutat. doi:10.1002/humu.22025
11. Bolton KL, Tyrer J, Song H, Ramus SJ, Notaridou M, Jones C, Sher T, Gentry-Maharaj A, Wozniak E, Tsai YY, Weidhaas J, Paik D, Van Den Berg DJ, Stram DO, Pearce CL, Wu AH, Brewster W, Anton-Culver H, Ziogas A, Narod SA, Levine DA, Kaye SB, Brown R, Paul J, Flanagan J, Sieh W, McGuire V, Whittemore AS, Campbell I, Gore ME, Lissowska J, Yang HP, Medrek K, Gronwald J, Lubinski J, Jakubowska A, Le ND, Cook LS, Kelemen LE, Brook-Wilson A, Massuger LF, Kiemeney LA, Aben KK, van Altena AM, Houlston R, Tomlinson I, Palmieri RT, Moorman PG, Schildkraut J, Iversen ES, Phelan C, Vierkant RA, Cunningham JM, Goode EL, Fridley BL, Kruger-Kjaer S, Blaeker J, Hogdall E, Hogdall C, Gross J, Karlan BY, Ness RB, Edwards RP, Odunsi K, Moyisch KB, Baker JA, Modugno F, Heikkinenen T, Butzow R, Nevanlinna H, Leminen A, Bogdanova N, Antonenkova N, Doerk T, Hillemanns P, Durst M, Runnebaum I, Thompson PJ, Carney ME, Goodman MT, Lurie G, Wang-Gohrke S, Hein R, Chang-Claude J, Rossing MA, Cushing-Haugen KL, Doherty J, Chen C, Rafnar T, Besenbacher S, Sulem P, Stefansson K, Birrer MJ, Terry KL, Hernandez D, Cramer DW, Vergote I, Amant F, Lambrechts D, Despierre E, Fasching PA, Beckmann MW, Thiel FC, Ekici AB, Chen X, Johnatty SE, Webb PM, Beesley J, Chanock S, Garcia-Closas M, Sellers T, Easton DF, Berchuck A, Chenevix-Trench G, Pharoah PD, Gayther SA (2010) Common variants at 19p13 are associated with susceptibility to ovarian cancer. Nat Genet 42(10):880-884. doi:10.1038/ng.666
12. Goode EL, Chenevix-Trench G, Song H, Ramus SJ, Notaridou M, Lawrenson K, Widschwendter M, Vierkant RA, Larson MC, Kjaer SK, Birrer MJ, Berchuck A, Schildkraut J, Tomlinson I, Kiemeney LA, Cook LS, Gronwald J, Garcia-Closas M, Gore ME, Campbell I, Whittemore AS, Sutphen R, Phelan C, Anton-Culver H, Pearce CL, Lambrechts D, Rossing MA, Chang-Claude J, Moysich KB, Goodman MT, Dork T, Nevanlinna H, Ness RB, Rafnar T, Hogdall C, Hogdall E, Fridley BL, Cunningham JM, Sieh W, McGuire V, Godwin AK, Cramer DW, Hernandez D, Levine D, Lu K, Iversen ES, Palmieri RT, Houlston R, van Altena AM, Aben KK, Massuger LF, Brooks-Wilson A, Kelemen LE, Le ND, Jakubowska A, Lubinski J, Medrek K, Stafford A, Easton DF, Tyrer J, Bolton KL, Harrington P, Eccles D, Chen A, Molina AN, Davila BN, Arango H, Tsai YY, Chen Z, Risch HA, McLaughlin J, Narod SA, Ziogas A, Brewster W, Gentry-Maharaj A, Menon U, Wu AH, Stram DO, Pike MC, Beesley J, Webb PM, Chen X, Ekici AB, Thiel FC, Beckmann MW, Yang H, Wentzensen N, Lissowska J, Fasching PA, Despierre E, Amant F, Vergote I, Doherty J, Hein R, Wang-Gohrke S, Lurie G, Carney ME, Thompson PJ, Runnebaum I, Hillemanns P, Durst M, Antonenkova N, Bogdanova N, Leminen A, Butzow R, Heikkinen T, Stefansson K, Sulem P, Besenbacher S, Sellers TA, Gayther SA, Pharoah PD (2010) A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24. Nat Genet 42(10):874-879. doi:10.1038/ng.668
13. Song H, Ramus SJ, Tyrer J, Bolton KL, Gentry-Maharaj A, Wozniak E, Anton-Culver H, Chang-Claude J, Cramer DW, DiCioccio R, Dork T, Goode EL, Goodman MT, Schildkraut JM, Sellers T, Baglietto L, Beckmann MW, Beesley J, Blaakaer J, Carney ME, Chanock S, Chen Z, Cunningham JM, Dicks E, Doherty JA, Durst M, Ekici AB, Fenstermacher D, Fridley BL, Giles G, Gore ME, De Vivo I, Hillemanns P, Hogdall C, Hogdall E, Iversen ES, Jacobs IJ, Jakubowska A, Li D, Lissowska J, Lubinski J, Lurie G, McGuire V, McLaughlin J, Medrek K, Moorman PG, Moysich K, Narod S, Phelan C, Pye C, Risch H, Runnebaum IB, Severi G, Southey M, Stram DO, Thiel FC, Terry KL, Tsai YY, Tworoger SS, Van Den Berg DJ, Vierkant RA, Wang-Gohrke S, Webb PM, Wilkens LR, Wu AH, Yang H, Brewster W, Ziogas A, Houlston R, Tomlinson I, Whittemore AS, Rossing MA, Ponder BA, Pearce CL, Ness RB, Menon U, Kjaer SK, Gronwald J, Garcia-Closas M, Fasching PA, Easton DF, Chenevix-Trench G, Berchuck A, Pharoah PD, Gayther SA (2009) A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2. Nat Genet 41(9):996-1000. doi:10.1038/ng.424
14. Li Y, Zhao H, Sun L, Huang L, Yang Q, Kong B (2011) MDM2 SNP309 is associated with endometrial cancer susceptibility: a meta-Analysis. Hum Cell 24(2):57-64. doi:10.1007/s13577-011-0013-4
15. Rousseau-Merck MF, Misrahi M, Loosfelt H, Milgrom E, Berger R (1987) Localization of the human progesterone receptor gene to chromosome 11q22-q23. Hum Genet 77(3):280-282
16. Mattei MG, Krust A, Stropp U, Mattei JF, Chambon P (1988) Assignment of the human progesterone receptor to the q22 band of chromosome 11. Hum Genet 78(1):96-97
17. Sartorius CA, Melville MY, Hovland AR, Tung L, Takimoto GS, Horwitz KB (1994) A third transactivation function (AF3) of human progesterone receptors located in the unique N-terminal segment of the B-isoform. Mol Endocrinol 8(10):1347-1360
18. Wen DX, Xu YF, Mais DE, Goldman ME, McDonnell DP (1994) The A and B isoforms of the human progesterone receptor operate through distinct signaling pathways within target cells. Mol Cell Biol 14(12):8356-8364
19. Leite DB, Junqueira MG, de Carvalho CV, Massad-Costa AM, Goncalves WJ, Nicolau SM, Lopes LA, Baracat EC, da Silva ID (2008) Progesterone receptor (PROGINS) polymorphism and the risk of ovarian cancer. Steroids 73(6):676-680. doi:10.1016/j. steroids.2008.02.005
20. McKenna NJ, Kieback DG, Carney DN, Fanning M, McLinden J, Headon DR (1995) A germline TaqI restriction fragment length polymorphism in the progesterone receptor gene in ovarian carcinoma. Br J Cancer 71(3):451-455
21. Agoulnik IU, Tong XW, Fischer DC, Korner K, Atkinson NE, Edwards DP, Headon DR, Weigel NL, Kieback DG (2004) A germline variation in the progesterone receptor gene increases transcriptional activity and may modify ovarian cancer risk. J Clin Endocrinol Metab 89(12):6340-6347. doi:10.1210/jc. 2004-0114
22. Terry KL, De Vivo I, Titus-Ernstoff L, Sluss PM, Cramer DW (2005) Genetic variation in the progesterone receptor gene and ovarian cancer risk. Am J Epidemiol 161(5):442-451. doi:10. 1093/aje/kwi064
23. Govindan S, Ahmad SN, Vedicherla B, Kodati V, Jahan P, Rao KP, Ahuja YR, Hasan Q (2007) Association of progesterone receptor gene polymorphism (PROGINS) with endometriosis, uterine fibroids and breast cancer. Cancer Biomark 3(2):73-78
24. Junqueira MG, da Silva ID, Nogueira-de-Souza NC, Carvalho CV, Leite DB, Gomes MT, Baracat EC, Lopes LA, Nicolau SM, Goncalves WJ (2007) Progesterone receptor (PROGINS) polymorphism and the risk of endometrial cancer development. Int J Gynecol Cancer 17(1):229-232. doi:10.1111/j.1525-1438.2006.00767.x
25. Johnatty SE, Spurdle AB, Beesley J, Chen X, Hopper JL, Duffy DL, Chenevix-Trench G (2008) Progesterone receptor polymorphisms and risk of breast cancer: results from two Australian breast cancer studies. Breast Cancer Res Treat 109(1):91-99. doi:10.1007/s10549-007-9627-3
26. Romano A, Lindsey PJ, Fischer DC, Delvoux B, Paulussen AD, Janssen RG, Kieback DG (2006) Two functionally relevant polymorphisms in the human progesterone receptor gene (?331 G/A and progins) and the predisposition for breast and/or ovarian cancer. Gynecol Oncol 101(2):287-295. doi:10.1016/j.ygyno. 2005.10.040
27. 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(1):51-59. doi:10.1093/jnci/dji007
28. Runnebaum IB, Wang-Gohrke S, Vesprini D, Kreienberg R, Lynch H, Moslehi R, Ghadirian P, Weber B, Godwin AK, Risch H, Garber J, Lerman C, Olopade OI, Foulkes WD, Karlan B, Warner E, Rosen B, Rebbeck T, Tonin P, Dube MP, Kieback DG, Narod SA (2001) Progesterone receptor variant increases ovarian cancer risk in BRCA1 and BRCA2 mutation carriers who were never exposed to oral contraceptives. Pharmacogenetics 11(7):635-638
29. Quaye L, Tyrer J, Ramus SJ, Song H, Wozniak E, DiCioccio RA, McGuire V, Hogdall E, Hogdall C, Blaakaer J, Goode EL, Schildkraut JM, Easton DF, Kruger-Kjaer S, Whittemore AS, Gayther SA, Pharoah PD (2009) Association between common germline genetic variation in 94 candidate genes or regions and risks of invasive epithelial ovarian cancer. PLoS ONE 4(6):e5983. doi:10.1371/journal. pone.0005983
30. Lancaster JM, Wenham RM, Halabi S, Calingaert B, Marks JR, Moorman PG, Bentley RC, Berchuck A, Schildkraut JM (2003) No relationship between ovarian cancer risk and progesterone receptor gene polymorphism in a population-based, case-control study in North Carolina. Cancer Epidemiol Biomarkers Prev 12(3):226-227
31. Spurdle AB, Webb PM, Purdie DM, Chen X, Green A, Chenevix-Trench G (2001) No significant association between progesterone receptor exon 4 Val660Leu G/T polymorphism and risk of ovarian cancer. Carcinogenesis 22(5):717-721
32. Tong D, Fabjani G, Heinze G, Obermair A, Leodolter S, Zeillinger R (2001) Analysis of the human progesterone receptor gene polymorphism progins in Austrian ovarian carcinoma patients. Int J Cancer 95(6):394-397. doi:10.1002/1097-0215(20011120)95:6\394:AID-IJC1070[3.0.CO;2-X
33. Lancaster JM, Berchuck A, Carney ME, Wiseman R, Taylor JA (1998) Progesterone receptor gene polymorphism and risk for breast and ovarian cancer. Br J Cancer 78(2):277
34. Manolitsas TP, Englefield P, Eccles DM, Campbell IG (1997) No association of a 306-bp insertion polymorphism in the progesterone receptor gene with ovarian and breast cancer. Br J Cancer 75(9):1398-1399
35. Jiang DK, Wang WZ, Ren WH, Yao L, Peng B, Yu L (2011) TP53 Arg72Pro polymorphism and skin cancer risk: a metaanalysis. J Invest Dermatol 131(1):220-228. doi:10.1038/jid. 2010.270jid2010270
36. Shen SQ, Jiang DK, Liu GY, Chen F, Yu L (2012) Meta-Analysis shows significant association of the TP53 Arg72Pro with ovarian cancer risk. Mol Biol Rep 39(4):4683-4690. doi:10.1007/s11033-011-1260-x
37. Mantel N, Haenszel W (1959) Statistical aspects of the analysis of data from retrospective studies of disease. J Natl Cancer Inst 22(4):719-748
38. DerSimonian R, Laird N (1986) Meta-Analysis in clinical trials. Control Clin Trials 7(3):177-188
39. Zintzaras E, Ioannidis JP (2005) Heterogeneity testing in metaanalysis of genome searches. Genet Epidemiol 28(2):123-137. doi:10.1002/gepi.20048
40. Egger M, Davey Smith G, Schneider M, Minder C (1997) Bias in meta-Analysis detected by a simple, graphical test. BMJ 315(7109):629-634
41. Pearce CL, Wu AH, Gayther SA, Bale AE, 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 (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(2):282-288. doi:10.1038/sj.bjc. 6604170
42. Stenzig J, Schweikert A, Piasecki A, Hoppner G, Eschenhagen T, Rau T (2012) Progesterone receptor variants associated with the PROGINS haplotype exhibit functional properties similar to those of wild-type progesterone receptor. Pharmacogenet Genomics 22(8):629-641. doi:10.1097/FPC.0b013e3283558256
43. Tsutsui K (2008) Progesterone biosynthesis and action in the developing neuron. Endocrinology 149(6):2757-2761. doi:10. 1210/en.2007-1592
44. Kastner P, Krust A, Turcotte B, Stropp U, Tora L, Gronemeyer H, Chambon P (1990) Two distinct estrogen-regulated promoters generate transcripts encoding the two functionally different human progesterone receptor forms A and B. EMBO J 9(5):1603-1614
45. Wang-Gohrke S, Chang-Claude J, Becher H, Kieback DG, Runnebaum IB (2000) Progesterone receptor gene polymorphism is associated with decreased risk for breast cancer by age 50. Cancer Res 60(9):2348-2350