Genetic polymorphisms and endometrial cancer risk

Expert Review of Anticancer Therapy

Volumn 8, Issue 7, 2008, Pages 1159-1167

  Meyer, Larissa A ^a   Westin, Shannon N ^a   Lu, Karen H ^a   Milam, Michael R ^a  

^a UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

Author keywords

Endometrial cancer; Polymorphism

Indexed keywords

AURORA A KINASE; CARCINOGEN; CHECKPOINT KINASE 2; CYCLIN D1; HORMONE RECEPTOR; LYMPHOTOXIN; PROTEIN P53; SEX HORMONE; STEROID; STEROID RECEPTOR;

APOPTOSIS; CANCER RISK; CARCINOGENESIS; CASE CONTROL STUDY; CELL CYCLE REGULATION; DNA DAMAGE; ENDOMETRIUM CANCER; EPIGENETICS; FEMALE; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; HUMAN; REVIEW; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; STEROID METABOLISM; ENDOMETRIUM TUMOR; GENETIC PREDISPOSITION; GENETICS;

ENDOMETRIAL NEOPLASMS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS;

EID: 48849100161     PISSN: 14737140     EISSN: 17448328     Source Type: Journal    
DOI: 10.1586/14737140.8.7.1159     Document Type: Review

References (73)

1. Jemal A, Siegel R, Ward E et al. Cancer statistics, 2008. CA Cancer J. Clin. 58, 71-96 (2008).
2. Sorosky JI. Endometrial cancer. Obstet. Gynecol. 111, 436-447 (2008).
3. Gruber SB, Thompson WD. A population-based study of endometrial cancer and familial risk in younger women. Cancer and Steroid Hormone Study Group. Cancer EpidemioL Biomarkers Prev. 5, 411-417 (1996).
4. Smith DC, Prentice R, Thompson DJ, Herrmann WL. Association of exogenous estrogen and endometrial carcinoma. N. Engl. J. Med. 293, 1164-1167 (1975).
5. Ziel HK, Finkle WD. Increased risk of endometrial carcinoma among users of conjugated estrogens. N. Engl. J. Med. 293, 1167-1170 (1975).
6. Ziel HK, Finkle VM. Association of estrone with the development of endometrial carcinoma. Am. J. Obstet. Gynecol. 124, 735-740 (1976).
7. Kelsey JL, LiVolsi VA, Holford TR et al. A case-control study of cancer of the endometrium. Am. J. Epidemiol. 116, 333-342 (1982).
8. Schwartz Z, Dgani R, Flugelman MY et al. A novel approach to the analysis of risk factors in endometrial carcinoma. Gynecol. Oncol. 21, 228-234 (1985).
9. Parazzini F, La Vecchia C, Bocciolone L, Franceschi S. The epidemiology of endometrial cancer. Gynecol. Oncol. 41, 1-16 (1991).
10. Brinton LA, Berman MI, Mortel R et al. Reproductive, menstrual, and medical risk factors for endometrial cancer: results from a case-control study. Am. J. Obstet. Gynecol. 167, 1317-1325 (1992).
11. Friberg E, Mantzoros CS, Wolk A. Physical activity and risk of endometrial cancer: a population-based prospective cohort study. Cancer Epidemiol. Biomarkers Prev. 15, 2136-2140 (2006).
12. Cust AE, Kaaks R, Friedenreich C et al. Plasma adiponectin levels and endometrial cancer risk in pre- and postmenopausal women. J. Clin. Endecrinol. Metab. 92, 255-263 (2007).
13. Bandera EV, Kushi LH, Moore DF et al. Dietary lipids and endometrial cancer: the current epidemiologic evidence. Cancer Causes Control 18, 687-703 (2007).
14. Soliman PT, Wu D, Tortolero-Luna G et al. Association between adiponectin, insulin resistance, and endometrial cancer. Cancer 106, 2376-2381 (2006).
15. Lander ES, Linton LM, Birren B et al. Initial sequencing and analysis of the human genome. Nature 409, 860-921 (2001).
16. Venter JC, Adams MD, Myers EW et al. The sequence of the human genome. Science 291, 1304-1351 (2001).
17. Pharoah PD, Dunning AM, Ponder BA, Easton DF. Association studies for finding cancer-susceptibility genetic variants. Nat. Rev. Cancer 4, 850-860 (2004).
18. Hampel H, Frankel W, Panescu J et al. Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res. 66, 7810-7817 (2006).
19. Schmeler KM, Lynch HT, Chen LM et al. Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. N. Engl. J. Med. 354, 261-269 (2006).
20. Chen LM, Yang KY, Little SE et al. Gynecologic cancer prevention in Lynch syndrome/hereditary nonpolyposis colorectal cancer families. Obstet. Gynecol. 110, 18-25 (2007).
21. Lu KH. Hereditary gynecologic cancers: differential diagnosis, surveillance, management and surgical prophylaxis. Fam. Cancer 7, 53-58 (2008).
22. Taylor JG, Choi EH, Foster CB, Chanock SJ. Using genetic variation to study human disease. Trends Mol. Med. 7, 507-512 (2001).
23. Milam MR, Gu J, Yang H et al. STK15 F31I polymorphism is associated with increased uterine cancer risk: a pilot study. Gynecol. Oncol. 107, 71-74 (2007).
24. Roh JW, Kim JW, Park NH et al. p53 and p21 genetic polymorphisms and susceptibility to endometrial cancer. Gynecol. Oncol. 93, 499-505 (2004).
25. Collins FS, Guyer MS, Charkravarti A. Variations on a theme: cataloging human DNA sequence variation. Science 278, 1580-1581 (1997).
26. Grimes DA, Schulz KF. Making sense of odds and odds ratios. Obstet. Gynecol. 111, 423-426 (2008).
27. Ioannidis JP, Ntzani EE, Trikalinos TA, Contopoulos-Ioannidis DG. Replication validity of genetic association studies. Nat. Genet. 29, 306-309 (2001).
28. Emons G, Fleckenstein G, Hinney B et al. Hormonal interactions in endometrial cancer. Endocr. Relat. Cancer 7, 227-242 (2000).
29. Sherman ME. Theories of endometrial carcinogcnesis: a multidisciplinary approach. Mod. Pathol. 13, 295-308 (2000).
30. Kang S, Rob JW, Kim JW. Single nucleotide polymorphism: a new risk factor for endometrial cancer? Future Oncol. 1, 323-330 (2005).
31. Weiderpass E, Persson I, Melhus H et al. Estrogen receptor α gene polymorphisms and endometrial cancer risk. Carcinogenesis 21, 623-627 (2000).
32. Iwamoto I, Fujino T, Douchi T, Nagata Y. Association of estrogen receptor α and β3-adrencrgic receptor polymorphisms with endometrial cancer. Obstet. Gynecol. 102, 506-511 (2003).
33. Berstein LM, Imyanitov EN, Gamajunova VB et al. CYP17 genetic polymorphism in endometrial cancer: are only steroids involved? Cancer Lett. 180, 47-53 (2002).
34. Berstein LM, Imyanitov EN, Kovalevskij AJ et al. CYP17 and CYP19 genetic polymorphisms in endometrial cancer: association with intratumoral aromatase activity. Cancer Lett. 207, 191-196 (2004).
35. Haiman CA, Hankinson SE, Colditz, GA et al. A polymorphism in CYP17 and endometrial cancer risk. Cancer Res. 61, 3955-3960 (2001).
36. McKean-Cowdin R, Feigelson HS, Pike MC et al. Risk of endometrial cancer and estrogen replacement therapy history by CYP17 genotype. Cancer Res. 61, 848-849 (2001).
37. Gaudet MM, Lacey JV Jr, Lissowska J et al. Genetic variation in CYP17 and endometrial cancer risk. Hum. Genet. 123, 155-162 (2008).
38. Simpson ER, Mahendroo MS, Means GD et al. Tissue-specific promoters regulate aromatase cytochrome P450 expression. J. Steroid Biochem. Mol. Biol. 44, 321-330 (1993).
39. Haiman CA, Stram DO, Pike MC et al. A comprehensive haplotype analysis of CYP19 and breast cancer risk: the Multiethnic Cohort. Hum. Mol. Genet. 12, 2679-2692 (2003).
40. Paynter RA, Hankinson SE, Colditz GA et al CYP19 (aromatase) haplotypes and endometrial cancer risk. Int, J. Cancer 116, 267-274 (2005).
41. Olson SH, Bandera. EV, Orlow I. Variants in estrogen biosynthesis genes, sex steroid hormone levels, and endometrial cancer: a HuGE review. Am. J. Epidemiol. 165, 235-245 (2007).
42. Tao MH, Cai Q, Zhang ZF et al. Polymorphisms in the CYP19A1 (aromatase) gene and endometrial cancer risk in Chinese women. Cancer Epidemiol. Biomarkers Prev. 16, 943-949 (2007).
43. Lee AJ, Cai MX, Thomas PE et al. Characterization of the oxidative metabolites of 17β-estradiol and estrone formed by 15 selectively expressed human cytochrome p450 isoforms. Endocrinology 144, 3382-3398 (2003).
44. Hirata H, Hinoda Y, Okayama N et al. CYP1A1, SULT1A1, and SULT1E1 polymorphisms are risk factors for endometrial cancer susceptibility. Cancer 112, 1964-1973 (2008).
45. McGrath M, Hankinson SE, De Vivo I. Cytochromc P450 1A1, cigarette smoking, and risk of endometrial cancer (United States). Cancer Causes Control 18, 1123-1130 (2007).
46. De Vivo I, Huggins GS, Hankinson SE et al. A functional polymorphism in the promoter of the progesterone receptor gene associated with endometrial cancer risk. Proc. Natl Acad. Sci. USA 99, 12263-12268 (2002).
47. Ito K, Suzuki T, Akahira J et al. Expression of androgen receptor and 5α-reductases in the human normal endometrium and its disorders. Int. J. Cancer 99, 652-657 (2002).
48. McGrath M, Lee IM, Hankinson SE et al. Androgen receptor polymorphisms and endometrial cancer risk. Int. J. Cancer 118, 1261-1268 (2006).
49. Sasaki M, Sakuragi N, Dahiya, R. The CAG repeats in cxon I of the androgen receptor gene are significantly longer in endometrial cancer patients. Biochem. Biophys. Res. Commun. 305, 1105-1108 (2003).
50. Berstein L, Zimarina T, fmyanitov E et al. Hormonal imbalance in two types of endometrial cancer and genetic polymorphism of steroidogenic enzymes. Maturitas 54, 352-355 (2006).
51. Hollstein M, Sidransky D, Vogelstein B, Harris CC. p53 mutations in human cancers. Science 253, 49-53 (1991).
52. Soussi T. The p53 tumor suppressor gene: from molecular biology to clinical investigation. Ann. NY Acad. Sci. 910, 121-139 (2000).
53. Lukas J, Groshen S, Saffari B et al. WAF1/Cip1 gene polymorphism and expression in carcinomas of the breast, ovary, and endometrium. Am. J. Pathol. 150, 167-175 (1997).
54. Matlashewski GJ, Tuck S, Pim, D et al. Primary structure polymorphism at amino acid residue 72 of human p53. Mol. Cell Biol. 7, 961-963 (1987).
55. Peller S, Halperin R, Schneider D et al. Polymorphisms of the p53 gene in women with ovarian or endometrial carcinoma. Oncol. Rep. 6, 193-197 (1999).
56. Esteller M, Garcia A, Martinez-Palones JM et al. Susceptibility to endometrial cancer: influence of allelism at p53, glutathione S-transferase (GSTM1 and GSTT1) and cytochrome P-450 (CYP1A1) loci. Br. J. Cancer 75, 1385-1388 (1997).
57. Agorastos T, Masouridou S, Lambropoulos AF et al. P53 codon 72 polymorphism and correlation with ovarian and endometrial cancer in Greek women. Eur. J. Cancer Prev. 13, 277-280 (2004).
58. Ueda M, Terai Y, Kanda K et al. Germline polymorphism of p53 codon 72 in gynecological cancer. Gynecol Oncol. 100, 173-178 (2006).
59. Walsh CS, Miller CW, Karlan BY, Koeffler HP. Association between a functional single nucleotide polymorphism in the MDM2 gene and sporadic endometrial cancer risk. Gynecol. Oncol. 104, 660-664 (2007).
60. Bond GL, Hu W, Bond EE et al. A single nucleotide polymorphism in the MDM2 promoter attenuates the p53 tumor suppressor pathway and accelerates tumor formation in humans. Cell 119, 591-602 (2004).
61. Shieh SY, Ahn J, Tamai K et al. The human homologs of checkpoint kinases Chk1 and Cds1 (Chk2) phosphorylate p53 at multiple DNA damage-inducible sites. Genes Dev. 14, 289-300 (2000).
62. Antoni L, Sodha N, Collins I, Garrett MD. CHK2 kinase: cancer susceptibility and cancer therapy - two sides of the same coin? Nat. Rev. Cancer 7, 925-936 (2007).
63. Einarsdottir K, Humphreys K, Bonnard C et al. Effect of ATM, CHEK2 and EPBB2 TAGSNPs and haplotypes on endometrial cancer risk. Hum. Mol. Genet. 16, 154-164 (2007).
64. Donnellan R, Chetty R. Cyclin D1 and human neoplasia. Mol. Pathol. 51, 1-7 (1998).
65. Kang S, Kim JW, Park NH et al. Cyclin D1 polymorphism arid the risk of endometrial cancer. Gynecol. Oncol. 97, 431-435 (2005).
66. Paul NL, Ruddle NH. Lymphotoxin, Annu. Rev. Immunol. 6, 407-438 (1988).
67. Ito D, Back TC, Shakhov AN et al. Mice with a targeted mutation in lymphotoxin-α exhibit enhanced tumor growth and metastasis: impaired NK cell development and recruitment. J. Immunol. 163, 2809-2815 (1999).
68. Niwa Y, Ito H, Matsuo K et al. Lymphotoyin-α polymorphisms and the risk of endometrial cancer in Japanese subjects. Gynecol. Oncol. 104, 586-590 (2007).
69. Goodfellow PJ, Buttin BM, Herzog TJ et al. Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected. series of endometrial cancers. Proc. Natl. Acad Sci. USA 100, 5908-5913 (2003).
70. Esteller M, Levine R, Baylin SB et al. MLH1 promoter hypermethylation is associated with the microsatellite instability phenotype in sporadic endometrial carcinomas. Oncogene 17, 2413-2417 (1998).
71. Simpkins SB, Bocker T, Swisher EM et al. MLH1 promoter methylation and gene silencing is the primary cause of microsatellite instability in sporadic endometrial cancers. Hum. Mol. Genet. 8, 661-666 (1999).
72. Chen H, Taylor NP, Sotamaa KM et al. Evidence for heritable predisposition to epigenetic silencing of MLH1. Int. J. Cancer 120, 1684-1688 (2007).
73. Haiman CA, Hsu C, de Bakker P et al. Comprehensive Association Testing of Common Genetic Variation in DNA Repair Pathway Genes in Relationship with Breast Cancer Risk in Multiple Populations. Hum. Mol. Genet. 17, 825-384 (2008).