Worldwide distribution of allelic variation at the progesterone receptor locus and the incidence of female reproductive cancers

American Journal of Human Biology

Volumn 24, Issue 1, 2012, Pages 42-51

  Rockwell, L Christie ^a   Rowe, Elizabeth J ^a   Arnson, Katherine ^a   Jackson, Fatimah ^b   Froment, Alain ^c   Ndumbe, Peter ^d   Seck, Binteou ^e   Jackson, Robert ^e   Lorenz, Joseph G ^f  

^a TEMPLE UNIVERSITY   (United States)

^b The University of North Carolina at Chapel Hill   (United States)

^c Musee du Homme   (France)

^d UNIVERSITY OF YAOUNDÉ I   (Cameroon)

^e UNIVERSITY OF MARYLAND   (United States)

^f CENTRAL WASHINGTON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROGESTERONE RECEPTOR;

ALLELE; ALU SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; BREAST TUMOR; FEMALE; GENE FREQUENCY; GENETIC VARIABILITY; GENETICS; GENOTYPE; HAPLOTYPE; HUMAN; INCIDENCE; INTRON; OVARY TUMOR; SINGLE NUCLEOTIDE POLYMORPHISM; UTERUS CANCER;

ALLELES; ALU ELEMENTS; AMINO ACID SUBSTITUTION; BREAST NEOPLASMS; FEMALE; GENE FREQUENCY; GENETIC VARIATION; GENOTYPE; HAPLOTYPES; HUMANS; INCIDENCE; INTRONS; OVARIAN NEOPLASMS; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, PROGESTERONE; UTERINE NEOPLASMS;

EID: 83555161532     PISSN: 10420533     EISSN: 15206300     Source Type: Journal    
DOI: 10.1002/ajhb.21233     Document Type: Article

References (44)

1. 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 andmay modify ovarian cancer risk. J Clin Endocrinol Metab 89: 6340-6347.
2. Antunez-de-Mayolo A, Antunez-de-Mayolo G, Thomas E, Reategui EP, Brown MD, Herrera RJ. 1999. Worldwide distribution of a polymorphism Alu insertion in the progesterone receptor gene. In: Papiha SS, Deka R, Chakraborty R, editors. Genomic diversity: applications in human population genetics. New York: Kluwar Academic/Plenum Publishers. p 213-222.
3. Berchuck A, Schildkraut JM, Wenham RM, Calingaert B, Ali S, Henriott A, Halabi S, Rodriguez GC, Gertig D, Purdie DM, Kelemen L, Spurdle AB, Marks J, Chenevix-Trench G. 2004. Progesterone receptor promoter +331A polymorphism is associated with a reduced risk of endometrioid and clear cell ovarian cancers. Cancer Epidemiol Biomarkers Prev 13: 2141-2147.
4. Chen C, Opazo JC, Erez O, Uddin M, Santolaya-Forgas J, Goodman M, Grossman LI, Romero R, Wildman DE. 2008. The human progesterone receptor shows evidence of adaptive evolution associated with its ability to act as a transcription factor. Mol Phylogenet Evolu 47: 637-649.
5. Conneely OM, Mulac-Jericevic B, Lydon JP. 2003. Progesterone-dependent regulation of female reproductive activity by two distinct progesterone receptor isoforms. Steroids 68: 771-778.
6. Cramer DW, Hornstein MD, McShane P, Powers RD, Lescault PJ, Vitonis AF, De Vivo I. 2003. Human progesterone receptor polymorphisms and implantation failure during in vitro fertilization. Am J Obstet Gynecol 189: 1085-1092.
7. De Vivo I, Huggins GS, Hankinson SE, Lescault PJ, Boezen M, Colditz GA, Hunter DJ. 2002. A functional polymorphism in the promoter of the progesterone receptor gene associated with endometrial cancer risk. Proc Natl Acad Sci USA 99: 12263-12268.
8. De Vivo I, Hankinson SE, Colditz GA, Hunter DJ. 2003. A functional polymorphism in the progesterone receptor gene is associated with an increase in breast cancer risk. Cancer Res 63: 5236-5238.
9. Donaldson C, Crapazano J, Watson J, Levine E, Batzer M. 2002. PROGINS Alu Insertion and human genomic diversity. Mutat Res 501: 137-141.
10. Ferlay J, Shin HR, Bray F, Forman D, Mathers C, Parkin DM. 2010. GLOBOCAN 2008, Cancer Incidence and Mortality Worldwide: IARC CancerBase No. 10 [Internet]. Lyon, France: International Agency for Research on Cancer. Available from: Last accessed 7 January, 2011.
11. Goudet J. 2001. FSTAT, a program to estimate and test gene diversities and fixation indices (version 2.9.3). Available from Updated from Goudet (1995). Last accessed 14 September, 2010.
12. Greaves M. 2002. Cancer causation: the Darwinian downside of past success? Lancet Oncol 3: 244-251.
13. Ho HP, Westberg L, Annerbrink K, Olsson M, Melke J, Nilsson S, Baghaei F, Rosmond R, Holm G, Bjorntorp P, Andersch S, Allqulander C, Eriksson E. 2004. Association between a functional polymorphism in the progesterone receptor gene and panic disorder in women. Psychoneuroendocrinology 29: 1138-1141.
14. Huggins GS, Wong JY, Hankinson SE, De Vivo I. 2006. GATA5 activation of the progesterone receptor gene promoter in breast cancer cells is influenced by the +331G/A polymorphism. Cancer Res 66: 1384-1390.
15. Jasienska G, Thune I. 2001. Lifestyle, hormones, and risk of breast cancer. BMJ 322: 586-587.
16. 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: 229-232.
17. Kieback D, Tong X, Weigel N, Agoulnik I. 1998. A genetic mutation in the progesterone receptor (PROGINS) leads to an increased risk of non-familial breast and ovarian cancer causing inadequate control of estrogen receptor driven proliferation. J Soc Gynecol Investig 5: 40A (supplement).
18. 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: 226-227.
19. Law ML, Kao FT, Wei Q, Hartz JA, Greene GL, Zarucki-Schulz T, Conneely OM, Jones C, Puck TT, O'Malley BW, et al. 1987. The progesterone receptor gene maps to human chromosome band 11q13, the site of the mammary oncogene int-2. Proc Natl Acad Sci USA 84: 2877-2881.
20. Lee E, Hsu C, Haiman CA, Razavi P, Horn-Ross PL, Van Den Berg D, Bernstein L, Le Marchand L, Henderson BE, Setiawan VW, Ursin G. 2010. Genetic variation in the progesterone receptor gene and risk of endometrial cancer: a haplotype-based approach. Carcinogenesis 31: 1392-1399.
21. Lev-Maor G, Sorek R, Shomron N, Ast G. 2003. The birth of an alternatively spliced exon: 3′ splice-site selection in Alu exons. Science 300: 1288-1291.
22. 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: 451-455.
23. Mote PA, Balleine RL, McGowan EM, Clarke CL. 2000. Heterogeneity of progesterone receptors A and B expression in human endometrial glands and stroma. Hum Reprod 15 (Suppl 3): 48-56.
24. Mulac-Jericevic B, Conneely OM. 2004. Reproductive tissue selective actions of progesterone receptors. Reproduction 128: 139-146.
25. Nielsen R, Bustamante C, Clark AG, Glanowski S, Sackton TBY, Hubisz MJ, Feldel-Alon A, Tanenbaum DM, Civello D, White TJ, Sninsky J, Adams MD, Cargill M. 2005. A scan for positively selected genes in the genomes of humans and chimpanzees. PLoS Biol 3: e170.
26. 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.
27. 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.
28. Pijnenborg JM, Romano A, Dam-de Veen GC, Dunselman GA, Fischer DC, Groothuis PG, Kieback DG. 2005. Aberrations in the progesterone receptor gene and the risk of recurrent endometrial carcinoma. J Pathol 205: 597-605.
29. Pooley KA, Healey CS, Smith PL, Pharoah PD, Thompson D, Tee L, West J, Jordan C, Easton DF, Ponder BA, et al. 2006. Association of the progesterone receptor gene with breast cancer risk: a single-nucleotide polymorphism tagging approach. Cancer Epidemiol Biomarkers Prev 15: 675-682.
30. Richer JK, Jacobsen BM, Manning NG, Abel MG, Wolf DM, Horwitz KB. 2002. Differential gene regulation by the two progesterone receptor isoforms in human breast cancer cells. J Biol Chem 277: 5209-5218.
31. Risch HA, Bale AE, Beck PA, Zheng W. 2006. PGR +331 A/G and increased risk of epithelial ovarian cancer. Cancer Epidemiol Biomarkers Prev 15: 1738-1741.
32. Romano A, Fischer D, Delvoux R, Paulussen A, Janssen R, Kieback D. 2004. The PROGINS and +331G/A polymorphisms in the human progesterone receptor gene are associated with an increased risk for ovarian cancer in women below the age of 50. J Soc Gynecol Investig 11(2 Suppl): 408A.
33. 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: 287-295.
34. Romano A, Delvoux B, Fischer DC, Groothuis P. 2007. The PROGINS polymorphism of the human progesterone receptor diminishes the response to progesterone. J Mol Endocrinol 38: 331-350.
35. Rowe SM, Coughlan SJ, McKenna NJ, Garrett E, Kieback DG, Carney DN, Headon DR. 1995. Ovarian carcinoma-associated TaqI restriction fragment length polymorphism in intron G of the progesterone receptor gene is due to an Alu sequence insertion. Cancer Res 55: 2743-2745.
36. 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: 635-638.
37. Schweikert A, Rau T, Berkholz A, Allera A, Daufeldt S, Wildt L. 2004. Association of progesterone receptor polymorphism with recurrent abortions. Eur J Obstet Gynecol Reprod Biol 113: 67-72.
38. Smid-Koopman E, Blok LJ, Kuhne LC, Burger CW, Helmerhorst TJ, Brinkmann AO, Huikeshoven FJ. 2003. Distinct functional differences of human progesterone receptors A and B on gene expression and growth regulation in two endometrial carcinoma cell lines. J Soc Gynecol Investig 10: 49-57.
39. 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: 442-451.
40. 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: 2348-2350.
41. Wasserman L, Flatt SW, Natarajan L, Laughlin G, Matusalem M, Faerber S, Rock CL, Barrett-Connor E, Pierce JP. 2004. Correlates of obesity in postmenopausal women with breast cancer: comparison of genetic, demographic, disease-related, life history and dietary factors. Int J Obes Relat Metab Disord 28: 49-56.
42. Westberg L, Ho HP, Baghaei F, Nilsson S, Melke J, Rosmond R, Holm G, Bjorntorp P, Eriksson E. 2004. Polymorphisms in oestrogen and progesterone receptor genes: possible influence on prolactin levels in women. Clin Endocrinol 61: 216-223.
43. Yang DS, Sung HJ, Woo OH, Park KH, Woo SU, Kim AR, Lee ES, Lee JB, Kim YH, Kim JS, Seo JH. 2010. Association of a progesterone receptor gene +331 G/A polymorphism with breast cancer risk: a meta-analysis. Cancer Genet Cytogenet 196: 194-197.
44. Yudt MR, Berrodin TJ, Jelinsky SA, Hanna LA, Brown EL, Chippari S, Bhat RA, Winneker RC, Zhang Z. 2006. Selective and opposing actions of progesterone receptor isoforms in human endometrial stromal cells. Mol Cell Endocrinol 247: 116-126.