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Gene Polymorphisms

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Prostate Cancer: Shifting from Morphology to Biology

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Abstract

Over the last decade, the explosive advances in sequencing and genotyping technologies fueled by major financial investments in basic science, have evidenced that hundreds of genes harboring variations contribute to human cancers and that genetic variability may influence patients’ responses to post-surgical treatments (Hamburg and Collins, N Engl J Med 363(4):301–304, 2010).

Several studies have reported the association between one or multiple single nucleotide polymorphisms (SNPs) in multiple pathways linked to prostate cancer onset and progression (Sfanos and De Marzo, Histopathology (1):199–215, 2012).

For instance, a SNP (GG genotype) in the promoter region of alpha-1-antichymotrypsin (ACT), an acute-phase protein up-regulated in inflammatory conditions, has been reported as linked to the increased risk of prostate cancer (Licastro et al., Anticancer Res 28:395–399, 2008). Moreover, a correlation between circulating levels of PSA and the ACT GG genotype was reported in younger prostate cancer patients too. ACT is of particular interest because is bound, in men, to most of circulating PSA.

As well, the association between increased risk for prostate cancer or aggressive prostate cancer and the IL10–1082GG variant of IL-10 has been recently reported (Zabaleta et al., Carcinogenesis 29:573–578, 2008; Zabaleta et al., Carcinogenesis 30:1358–1362, 2009).

In addition, SNPs between multiple different cytokines have been investigated as a potential source of increased risk of prostate cancer (Zabaleta et al., Carcinogenesis 29:573–578, 2008; Zabaleta et al., Carcinogenesis 30:1358–1362, 2009; Kwon et al., Cancer Epidemiol Biomarkers Prev 20:923–933, 2011).

143 SNPs in 16 inflammation-related genes [CXC ligand 12 (CXCL12), IL-4, IL-6, IL-6ST, prostaglandin-endoperoxide synthase 2 (PTGS2), signal transducer and activator of transcription 3 (STAT3), TNF, protein kinase B (AKT1), CXCR4, IL-6R, IL-8, IL-10, nuclear factor kappa B (NFκB), phosphatidylinositol 3-kinase (PIK3)R1, PTGS1 and vascular endothelial growth factor (VEGF)] have been examined in a case–control study of African American versus Caucasian men (Kwon et al., Cancer Epidemiol Biomarkers Prev 20:923–933, 2011).

SNPs in IL-4, IL-6ST, PTGS2 and STAT3 resulted independently associated with prostate cancer susceptibility, while SNPs in AKT1, PIK3R1 and STAT3 were associated with aggressive prostate cancer. Overall, men carrying multiple ‘high-risk’ alleles have been found at an elevated risk for prostate cancer development. These studies strongly support the importance of inflammatory pathways in conferring prostate cancer risk.

A multitude of emerging findings support the increasing efforts of the scientific community to look at the molecular background of prostate cancer as the key brick to develop new therapies targeted to the patient, for its “molecularly unique” tumor.

Obviously, the ultimate goal of this exciting line of research will be to develop genetic tests readily and safely transferable to clinical use for the diagnosis and prediction of patients’ responses to therapy.

The way to reach this objective is sprinkled by many obstacles. We are still unaware of the real clinical significance of several genetic markers and the available data concerning the side-effects of the existing gene-based therapies are far away to be conclusive.

Nevertheless, the endlessly mounting reports on this topic are very encouraging, for their promising relevance in prostate cancer patients therapeutic management.

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References

  • AIHW (Australian Institute of Health and Welfare), AACR (Australasian Association of Cancer Registries) (2007) Cancer in Australia: an overview, 2006. Cancer series no. 37. Cat. no. CAN 32. AIHW, Canberra

    Google Scholar 

  • Al Olama AA, Kote-Jarai Z, Giles GG, Guy M, Morrison J, Severi G et al (2009) Multiple loci on 8q24 associated with prostate cancer susceptibility. Nat Genet 41:1058–1060

    PubMed  CAS  Google Scholar 

  • Aly M, Wiklund F, Grönberg H (2011) Early detection of prostate cancer with emphasis on genetic markers. Acta Oncol 50(Suppl 1):18–23

    PubMed  CAS  Google Scholar 

  • Bao BY, Pao JB, Lin VC, Huang CN, Chang TY, Lan YH, Lu TL, Lee HZ, Chen LM, Ting WC, Hsieh CJ, Huang SP (2010) Individual and cumulative association of prostate cancer susceptibility variants with clinicopathologic characteristics of the disease. Clin Chim Acta 411(17–18):1232–1237

    PubMed  CAS  Google Scholar 

  • Bel Hadj Jrad B, Mahfouth W, Bouaouina N, Gabbouj S, Ahmed SB, Ltaief M et al (2006) A polymorphism in FAS gene promoter associated with increased risk of nasopharyngeal carcinoma and correlated with anti-nuclear autoantibodies induction. Cancer Lett 233:21–27

    PubMed  CAS  Google Scholar 

  • Berndt SI, Chatterjee N, Huang WY, Chanock SJ, Welch R, Crawford ED et al (2007) Variant in sex hormone-binding globulin gene and the risk of prostate cancer. Cancer Epidemiol Biomarkers Prev 16:165

    PubMed  CAS  Google Scholar 

  • Beuten J, Gelfond JA, Franke JL, Weldon KS, Crandall AC, Johnson-Pais TL, Thompson IM, Leach RJ (2009) Single and multigenic analysis of the association between variants in 12 steroid hormone metabolism genes and risk of prostate cancer. Cancer Epidemiol Biomarkers Prev 18(6):1869–1880

    PubMed  CAS  Google Scholar 

  • Bonilla C, Mason T, Long L et al (2006) E-cadherin polymorphisms and haplotypes influence risk for prostate cancer. Prostate 66:546–556

    PubMed  CAS  Google Scholar 

  • Boyer JC, Umar A, Risinger JI et al (1995) Microsatellite instability mismatch repair deficiency, and genetic defects in human cancer cell lines. Cancer Res 55:6063–6070

    PubMed  CAS  Google Scholar 

  • Burmester JK, Suarez BK, Lin JH, Jin CH, Miller RD, Zhang KQ, Salzman SA, Reding DJ, Catalona WJ (2004) Analysis of candidate genes for prostate cancer. Hum Hered 57(4):172–178

    PubMed  CAS  Google Scholar 

  • Carter BS, Beaty TH, Steinberg GD, Childs B, Walsh PC (2006) Mendelian inheritance of familial prostate cancer. Proc Natl Acad Sci USA 89:3367–3371

    Google Scholar 

  • Chang BL, Zheng SL, Hawkins GA, Isaacs SD, Wiley KE, Turner A et al (2002) Joint effect of HSD3B1 and HSD3B2 genes is associated with hereditary and sporadic prostate cancer susceptibility. Cancer Res 62:1784

    PubMed  CAS  Google Scholar 

  • Chang BL, Spangler E, Gallagher S, Haiman CA, Henderson B, Isaacs W, Benford ML, Kidd LR, Cooney K, Strom S, Ingles SA, Stern MC, Corral R, Joshi AD, Xu J, Giri VN, Rybicki B, Neslund-Dudas C, Kibel AS, Thompson IM, Leach RJ, Ostrander EA, Stanford JL, Witte J, Casey G, Eeles R, Hsing AW, Chanock S, Hu JJ, John EM, Park J, Stefflova K, Zeigler-Johnson C, Rebbeck TR (2011) Validation of genome-wide prostate cancer associations in men of African descent. Cancer Epidemiol Biomarkers Prev 20(1):23–32

    PubMed  CAS  Google Scholar 

  • Chen Y, Wang J, Fraig MM et al (2001) Defects of DNA mismatch repair in human prostate cancer. Cancer Res 61(10):4112–4121

    PubMed  CAS  Google Scholar 

  • Chen Y, Wang J, Fraig MM et al (2003) Alterations in PMS2, MSH2 and MLH1 expression in human prostate cancer. Int J Oncol 22:1033–1043

    PubMed  CAS  Google Scholar 

  • Chen H, Hernandez W, Shriver MD, Ahaghotu CA, Kittles RA (2006) ICAM gene cluster SNPs and prostate cancer risk in African Americans. Hum Genet 120:69–76

    PubMed  CAS  Google Scholar 

  • Cheng I, Plummer SJ, Neslund-Dudas C, Klein EA, Casey G, Rybicki BA, Witte JS (2010) Prostate cancer susceptibility variants confer increased risk of disease progression. Cancer Epidemiol Biomarkers Prev 19(9):2124–2132

    PubMed  CAS  Google Scholar 

  • Chung CC, Magalhaes WC, Gonzalez-Bosquet J, Chanock SJ (2010) Genome-wide association studies in cancer – current and future directions. Carcinogenesis 31:111–120

    PubMed  CAS  Google Scholar 

  • Cooperberg MR, Lubeck DP, Mehta SS, Carroll PR (2003) Time trends in clinical risk stratification for prostate cancer: implications for outcomes (data from CaPSURE). J Urol 170:S21–S25

    PubMed  Google Scholar 

  • Cornu JN, Drouin S, Cancel-Tassin G, Bigot P, Azzouzi AR, Koutlidis N, Cormier L, Gaffory C, Rouprêt M, Sèbe P, Bitker MO, Haab F, Cussenot O (2011) Impact of genotyping on outcome of prostatic biopsies: a multicenter prospective study. Mol Med 17(5–6):473–477

    PubMed  CAS  Google Scholar 

  • Coughlin SS, Hall IJ (2002) A review of genetic polymorphisms and prostate cancer risk. Ann Epidemiol 12(3):182–196

    PubMed  Google Scholar 

  • Crawford ED (2006) Epidemiology of prostate cancer. Urology 62:3–12

    Google Scholar 

  • Cunningham JM, Hebbring SJ, McDonnell SK, Cicek MS, Christensen GB, Wang L et al (2007) Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer. Cancer Epidemiol Biomarkers Prev 16:969

    PubMed  CAS  Google Scholar 

  • Dianat SS, Margreiter M, Eckersberger E, Finkelstein J, Kuehas F, Herwig R, Ayati M, Lepor H, Djavan B (2009) Gene polymorphisms and prostate cancer: the evidence. BJU Int 104(11):1560–1572

    PubMed  CAS  Google Scholar 

  • Douglas JA, Zuhlke KA, Beebe-Dimmer J, Levin AM, Gruber SB, Wood DP et al (2005) Identifying susceptibility genes for prostate cancer – a family-based association study of polymorphisms in CYP17, CYP19, CYP11A1, and LH-beta. Cancer Epidemiol Biomarkers Prev 14:2035

    PubMed  CAS  Google Scholar 

  • Edwards SM, Eeles RA (2004) Unravelling the genetics of prostate cancer. Am J Med Genet Part C Sem Med Genet 129C:65–73

    Google Scholar 

  • Elledge SJ (1996) Cell cycle checkpoints: preventing an identity crisis. Science 274(5293):1664–1672

    PubMed  CAS  Google Scholar 

  • Ferrara N, Davis-Smyth T (1997) The biology of vascular endothelial growth factor. Endocr Rev 18(1):4–25

    PubMed  CAS  Google Scholar 

  • Fitzgerald LM, Kwon EM, Koopmeiners JS, Salinas CA, Stanford JL, Ostrander EA (2009) Analysis of recently identified prostate cancer susceptibility loci in a population-based study: associations with family history and clinical features. Clin Cancer Res 15:3231–3237

    PubMed  CAS  Google Scholar 

  • Fredriksson H, Ikonen T, Autio V et al (2006) Identification of germline MLH1 alterations in familial prostate cancer. Eur J Cancer 42(16):2802–2806

    PubMed  CAS  Google Scholar 

  • Gallagher DJ, Vijai J, Cronin AM, Bhatia J, Vickers AJ, Gaudet MM, Fine S, Reuter V, Scher HI, Halldén C, Dutra-Clarke A, Klein RJ, Scardino PT, Eastham JA, Lilja H, Kirchhoff T, Offit K (2010) Susceptibility loci associated with prostate cancer progression and mortality. Clin Cancer Res 16(10):2819–2832

    PubMed  CAS  Google Scholar 

  • Ghoussaini M, Song H, Koessler T, Al Olama AA, Kote-Jarai Z, Driver KE et al (2008) Multiple loci with different cancer specificities within the 8q24 gene desert. J Natl Cancer Inst 100:962–966

    PubMed  CAS  Google Scholar 

  • Gudmundsson J, Sulem P, Manolescu A, Amundadottir LT, Gudbjartsson D, Helgason A et al (2007) Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. Nat Genet 39:631–637

    PubMed  CAS  Google Scholar 

  • Haiman CA, Patterson N, Freedman ML, Myers SR, Pike MC, Waliszewska A et al (2007) Multiple regions within 8q24 independently affect risk for prostate cancer. Nat Genet 39:638–644

    PubMed  CAS  Google Scholar 

  • Hamburg MA, Collins FS (2010) The path to personalized medicine. N Engl J Med 363(4):301–304, Epub 2010 Jun 15. Erratum in: N Engl J Med. 2010 Sep 9;363(11):1092

    PubMed  CAS  Google Scholar 

  • Helfand BT, Fought AJ, Loeb S, Meeks JJ, Kan D, Catalona WJ (2010) Genetic prostate cancer risk assessment: common variants in 9 genomic regions are associated with cumulative risk. J Urol 184(2):501–505

    PubMed  Google Scholar 

  • Hirata H, Hinoda Y, Tanaka Y, Okayama N, Suehiro Y, Kawamoto K, Kikuno N, Majid S, Vejdani K, Dahiya R (2007) Polymorphisms of DNA repair genes are risk factors for prostate cancer. Eur J Cancer 43(2):231–237

    PubMed  CAS  Google Scholar 

  • Hirata H, Hinoda Y, Kikuno N, Suehiro Y, Shahryari V, Ahmad AE, Tabatabai ZL, Igawa M, Dahiya R (2009) Bcl-2–938C/A polymorphism carries increased risk of biochemical recurrence after radical prostatectomy. J Urol 181(4):1907–1912

    PubMed  CAS  Google Scholar 

  • Hsing AW, Chen C, Chokkalingam AP, Gao YT, Dightman DA, Nguyen HT et al (2001) Polymorphic markers in the SRD5A2 gene and prostate cancer risk: a population-based case–control study. Cancer Epidemiol Biomarkers Prev 10:1077

    PubMed  CAS  Google Scholar 

  • Huppi K, Chandramouli GV (2004) Molecular profiling of prostate cancer. Curr Urol Rep 5:45–51

    PubMed  Google Scholar 

  • Jacobs EJ, Hsing AW, Bain EB, Stevens VL, Wang Y, Chen J, Chanock SJ, Zheng SL, Xu J, Thun MJ, Calle EE, Rodriguez C (2008) Polymorphisms in angiogenesis-related genes and prostate cancer. Cancer Epidemiol Biomarkers Prev 17(4):972–977

    PubMed  CAS  Google Scholar 

  • Jakobsson J, Palonek E, Lorentzon M, Ohlsson C, Rane A, Ekstrom L (2007) A novel polymorphism in the 17beta-hydroxysteroid dehydrogenase type 5 (aldo-keto reductase 1C3) gene is associated with lower serum testosterone levels in Caucasian men. Pharmacogenomics J 7:282

    PubMed  CAS  Google Scholar 

  • Johns LE, Houlston RS (2003) A systematic review and meta-analysis of familial prostate cancer risk. BJU Int 91:789–794

    PubMed  CAS  Google Scholar 

  • Kamoto T, Isogawa Y, Shimizu Y et al (2005) Association of a genetic polymorphism of the E-cadherin gene with prostate cancer in a Japanese population. Jpn J Clin Oncol 35:158–161

    PubMed  Google Scholar 

  • Kibel AS, Isaacs WB (2000) G(1)/S cell cycle proteins as markers of aggressive prostate carcinoma. Urology 55(3):316–322

    PubMed  CAS  Google Scholar 

  • Kibel AS, Jin CH, Klim A, Luly J, A Roehl K, Wu WS (2008) Association between polymorphisms in cell cycle genes and advanced prostate carcinoma. Prostate 68(11):1179–1186

    PubMed  CAS  Google Scholar 

  • Kirchhoff T et al (2004) BRCA mutations and risk of prostate cancer in Ashkenazi Jews. Clin Cancer Res 10:2918–2921

    PubMed  CAS  Google Scholar 

  • Kote-Jarai Z, Easton DF, Stanford JL, Ostrander EA, Schleutker J, Ingles SA et al (2008) Multiple novel prostate cancer predisposition loci confirmed by an international study: the PRACTICAL consortium. Cancer Epidemiol Biomarkers Prev 17:2052–2061

    PubMed  CAS  Google Scholar 

  • Kumazawa T, Tsuchiya N, Wang L, Sato K, Kamoto T, Ogawa O et al (2004) Microsatellite polymorphism of steroid hormone synthesis gene CYP11A1 is associated with advanced prostate cancer. Int J Cancer 110:140

    PubMed  CAS  Google Scholar 

  • Kwon EM, Salinas CA, Kolb S et al (2011) Genetic polymorphisms in inflammation pathway genes and prostate cancer risk. Cancer Epidemiol Biomarkers Prev 20:923–933

    PubMed  CAS  Google Scholar 

  • Lai HC, Sytwu HK, Sun CA, Yu MH, Yu CP, Liu HS et al (2003) Single nucleotide polymorphism at Fas promoter is associated with cervical carcinogenesis. Int J Cancer 103:221–225

    PubMed  CAS  Google Scholar 

  • Lai HC, Lin WY, Lin YW, Chang CC, Yu MH, Chen CC et al (2005) Genetic polymorphisms of FAS and FASL (CD95/CD95L) genes in cervical carcinogenesis: an analysis of haplotype and gene–gene interaction. Gynecol Oncol 99:113–118

    PubMed  CAS  Google Scholar 

  • Langeberg WJ, Kwon EM, Koopmeiners JS, Ostrander EA, Stanford JL (2010) Population-based study of the association of variants in mismatch repair genes with prostate cancer risk and outcomes. Cancer Epidemiol Biomarkers Prev 19(1):258–264

    PubMed  CAS  Google Scholar 

  • Langsenlehner T, Langsenlehner U, Renner W et al (2008) Single nucleotide polymorphisms and haplotypes in the gene for vascular endothelial growth factor and risk of prostate cancer. Eur J Cancer 44:1572–1576

    PubMed  CAS  Google Scholar 

  • Leach FS, Velasco A, Hsieh JT, Sagalowsky AI, McConnell JD (2000) The mismatch repair gene hMSH2 is mutated in the prostate cancer cell line LNCaP. J Urol 164(5):1830–1833

    PubMed  CAS  Google Scholar 

  • Lee KM, Kang D, Park SK et al (2009) Nitric oxide synthase gene polymorphisms and prostate cancer risk. Carcinogenesis 30:621–625

    PubMed  CAS  Google Scholar 

  • Li C, Wu W, Liu J, Qian L, Li A, Yang K et al (2006a) Functional polymorphisms in the promoter regions of the FAS and FAS ligand genes and risk of bladder cancer in south China: a case – control analysis. Pharmacogenet Genomics 16:245–251

    PubMed  CAS  Google Scholar 

  • Li C, Larson D, Zhang Z, Liu Z, Strom SS, Gershenwald JE et al (2006b) Polymorphisms of the FAS and FAS ligand genes associated with risk of cutaneous malignant melanoma. Pharmacogenet Genomics 16:253–263

    PubMed  Google Scholar 

  • Licastro F, Bertaccini A, Porcellini E et al (2008) Alpha 1 antichymotrypsin genotype is associated with increased risk of prostate carcinoma and PSA levels. Anticancer Res 28:395–399

    PubMed  CAS  Google Scholar 

  • Lima L, Morais A, Lobo F, Calais-da-Silva FM, Calais-da-Silva FE, Medeiros R (2008) Association between FAS polymorphism and prostate cancer development. Prostate Cancer Prostatic Dis 11(1):94–98

    PubMed  CAS  Google Scholar 

  • Lin CC, Wu HC, Tsai FJ, Chen HY, Chen WC (2003) Vascular endothelial growth factor gene-460 C/T polymorphism is a biomarker for prostate cancer. Urology 62:374–377

    PubMed  Google Scholar 

  • Lindstrom S, Zheng SL, Wiklund F, Jonsson BA, Adami HO, Balter KA et al (2006) Systematic replication study of reported genetic associations in prostate cancer: strong support for genetic variation in the androgen pathway. Prostate 66:1729

    PubMed  Google Scholar 

  • Linja MJ, Visakorpi T (2004) Alterations of androgen receptor in prostate cancer. J Steroid Biochem Mol Biol 92:255

    PubMed  CAS  Google Scholar 

  • Liu X, Cheng I, Plummer SJ, Suarez BK, Casey G, Catalona WJ, Witte JS (2011) Fine-mapping of prostate cancer aggressiveness loci on chromosome 7q22-35. Prostate 71(7):682–689

    PubMed  CAS  Google Scholar 

  • Lu Q, Dobbs LJ, Gregory CW et al (2005) Increased expression of delta-catenin/neural plakophilin-related armadillo protein is associated with the downregulation and redistribution of Ecadherin and p120ctn in human prostate cancer. Hum Pathol 36:1037–1048

    PubMed  CAS  Google Scholar 

  • Lughezzani G et al (2010) Predictive and prognostic models in radical prostatectomy candidates: a critical analysis of the literature. Eur Urol 58:687–700

    PubMed  Google Scholar 

  • Makridakis NM, Ross RK, Pike MC, Crocitto LE, Kolonel LN, Pearce CL et al (1999) Association of mis-sense substitution in SRD5A2 gene with prostate cancer in African-American and Hispanic men in Los Angeles, USA. Lancet 354:975

    PubMed  CAS  Google Scholar 

  • Margiotti K, Kim E, Pearce CL, Spera E, Novell G, Reichardt JK (2002) Association of the G289S single nucleotide polymorphism in the HSD17B3 gene with prostate cancer in Italian men. Prostate 53:65

    PubMed  CAS  Google Scholar 

  • Medeiros RM, Morais A, Vasconcelos A et al (2002) Outcome in prostate cancer: association with endothelial nitric oxide synthase Glu-Asp298 polymorphism at exon 7. Clin Cancer Res 8:3433–3437

    PubMed  CAS  Google Scholar 

  • Modugno F, Weissfeld JL, Trump DL, Zmuda JM, Shea P, Cauley JA, Ferrell RE (2001) Allelic variants of aromatase and the androgen and estrogen receptors: toward a multigenic model of prostate cancer risk. Clin Cancer Res 7(10):3092–3096

    PubMed  CAS  Google Scholar 

  • Mononen N, Schleutker J (2009) Polymorphisms in genes involved in androgen pathways as risk factors for prostate cancer. J Urol 181(4):1541–1549

    PubMed  CAS  Google Scholar 

  • Mononen N, Seppälä EH, Duggal P, Autio V, Ikonen T, Ellonen P, Saharinen J, Saarela J, Vihinen M, Tammela TL, Kallioniemi O, Bailey-Wilson JE, Schleutker J (2006) Profiling genetic variation along the androgen biosynthesis and metabolism pathways implicates several single nucleotide polymorphisms and their combinations as prostate cancer risk factors. Cancer Res 66(2):743–747

    PubMed  CAS  Google Scholar 

  • Murphy G, Gavrilovic J (1999) Proteolysis and cell migration: creating a path? Curr Opin Cell Biol 11:614–621

    PubMed  CAS  Google Scholar 

  • Nam RK, Zhang WW, Trachtenberg J, Seth A, Klotz LH, Stanimirovic A, Punnen S, Venkateswaran V, Toi A, Loblaw DA, Sugar L, Siminovitch KA, Narod SA (2009) Utility of incorporating genetic variants for the early detection of prostate cancer. Clin Cancer Res 15(5):1787–1793

    PubMed  CAS  Google Scholar 

  • Nicholson B, Theodorescu D (2004) Angiogenesis and prostate cancer growth. J Cell Biochem 91:125–150

    PubMed  CAS  Google Scholar 

  • Norris AM, Woodruff RD, D’Agostino RB Jr, Clodfelter JE, Scarpinato KD (2007) Elevated levels of the mismatch repair protein Pms2 are associated with prostate cancer. Prostate 67(2):214–225

    PubMed  CAS  Google Scholar 

  • Ntais C, Polycarpou A, Ioannidis JP (2003) SRD5A2 gene polymorphisms and the risk of prostate cancer: a meta-analysis. Cancer Epidemiol Biomarkers Prev 12:618

    PubMed  CAS  Google Scholar 

  • Paris PL, Kupelian PA, Hall JM, Williams TL, Levin H, Klein EA et al (1999) Association between a CYP3A4 genetic variant and clinical presentation in African-American prostate cancer patients. Cancer Epidemiol Biomarkers Prev 8:901

    PubMed  CAS  Google Scholar 

  • Parkin DM, Whelan SL, Ferlay J, Teppo L, Thomas DB (eds) (2003) Cancer incidence in five continents. IARC Scientific Publications No. 155. Lyons: International Agency for Research on Cancer

    Google Scholar 

  • Qiu LX, Li RT, Zhang JB et al (2009) The E-cadherin (CDH1) −160C/A polymorphism and prostate cancer risk: a metaanalysis. Eur J Hum Genet 17:244–249

    PubMed  CAS  Google Scholar 

  • Ravindranath N, Wion D, Brachet P, Djakiew D (2001) Epidermal growth factor modulates the expression of vascular endothelial growth factor in the human prostate. J Androl 22:432–443

    PubMed  CAS  Google Scholar 

  • Rebbeck TR, Jaffe JM, Walker AH, Wein AJ, Malkowicz SB (1998) Modification of clinical presentation of prostate tumors by a novel genetic variant in CYP3A4. J Natl Cancer Inst 90:1225

    PubMed  CAS  Google Scholar 

  • Ries LA et al (2000) The annual report to the nation on the status of cancer, 1973–1997, with a special section on colorectal cancer. Cancer 88:2398–2424

    PubMed  CAS  Google Scholar 

  • Ritchey JD, Huang WY, Chokkalingam AP, Gao YT, Deng J, Levine P, Stanczyk FZ, Hsing AW (2005) Genetic variants of DNA repair genes and prostate cancer: a population-based study. Cancer Epidemiol Biomarkers Prev 14(7):1703–1709

    PubMed  CAS  Google Scholar 

  • Salinas CA, Koopmeiners JS, Kwon EM, FitzGerald L, Lin DW, Ostrander EA, Feng Z, Stanford JL (2009) Clinical utility of five genetic variants for predicting prostate cancer risk and mortality. Prostate 69(4):363–372

    PubMed  Google Scholar 

  • Schaid DJ (2004) The complex genetic epidemiology of prostate cancer. Hum Mol Genet 13(Spec No. 1):R103–R121

    PubMed  CAS  Google Scholar 

  • Sfanos KS, De Marzo AM (2012) Prostate cancer and inflammation: the evidence. Histopathology 60(1):199–215, Review

    PubMed  Google Scholar 

  • Sfar S, Saad H, Mosbah F, Chouchane L (2009) Combined effects of the angiogenic genes polymorphisms on prostate cancer susceptibility and aggressiveness. Mol Biol Rep 36(1):37–45

    PubMed  CAS  Google Scholar 

  • Shariat SF, Karakiewicz PI, Roehrborn CG, Kattan MW (2008) An updated catalog of prostate cancer predictive tools. Cancer 113:3075–3099

    PubMed  Google Scholar 

  • Siegel R, Naishadham D, Jemal A (2012) Cancer statistics. CA Cancer J Clin 62(1):10–29

    PubMed  Google Scholar 

  • Stetler-Stevenson WG, Aznavoorian S, Liotta LA (1993) Tumor cell interactions with the extracellular matrix during invasion and metastasis. Annu Rev Cell Biol 9:541–573

    PubMed  CAS  Google Scholar 

  • Stolze IP, Tian YM, Appelhoff RJ et al (2004) Genetic analysis of the role of the asparaginyl hydroxylase factor inhibiting hypoxia-inducible factor (HIF) in regulating HIF transcriptional target genes. J Biol Chem 279:42719–42725

    PubMed  CAS  Google Scholar 

  • Stone A, Ratnasinghe LD, Emerson GL, Modali R, Lehman T, Runnells G et al (2005) CYP3A43 Pro(340)Ala polymorphism and prostate cancer risk in African Americans and Caucasians. Cancer Epidemiol Biomarkers Prev 14:1257

    PubMed  CAS  Google Scholar 

  • Sun T, Miao X, Zhang X, Tan W, Xiong P, Lin D (2004) Polymorphisms of death pathway genes FAS and FASL in esophageal squamouscell carcinoma. J Natl Cancer Inst 96:1030–1036

    PubMed  CAS  Google Scholar 

  • Suzuki K, Matsui H, Nakazato H, Koike H, Okugi H, Hasumi M, Ohtake N, Nakata S, Takei T, Hatori M, Ito K, Yamanaka H (2003) Association of the genetic polymorphism in cytochrome P450 (CYP) 1A1 with risk of familial prostate cancer in a Japanese population: a case–control study. Cancer Lett 195(2):177–183

    PubMed  CAS  Google Scholar 

  • Teixeira AL, Ribeiro R, Cardoso D et al (2008) Genetic polymorphism in EGF is associated with prostate cancer aggressiveness and progression-free interval in androgen blockade-treated patients. Clin Cancer Res 14:3367–3371

    PubMed  CAS  Google Scholar 

  • Thompson IM, Goodman PJ, Tangen CM, Lucia MS, Miller GJ, Ford LG, Lieber MM, Cespedes RD, Atkins JN, Lippman SM, Carlin SM, Ryan A, Szczepanek CM, Crowley JJ, Coltman CA Jr (2003) The influence of finasteride on the development of prostate cancer. N Engl J Med 349:215–224

    PubMed  CAS  Google Scholar 

  • Tomlins SA, Mehra R, Rhodes DR, Cao X, Wang L, Dhanasekaran SM, Kalyana-Sundaram S, Wei JT, Rubin MA, Pienta KJ, Shah RB, Chinnaiyan AM (2007) Integrative molecular concept modeling of prostate cancer progression. Nat Genet 39(1):41–51

    PubMed  CAS  Google Scholar 

  • Ueda M, Terai Y, Kanda K, Kanemura M, Takehara M, Yamaguchi H et al (2006) Fas gene promoter −670 polymorphism in gynecological cancer. Int J Gynecol Cancer 16(Suppl 1):179–182

    PubMed  Google Scholar 

  • Verhage BA, van Houwelingen K, Ruijter TE, Kiemeney LA, Schalken JA (2002) Single-nucleotide polymorphism in the E-cadherin gene promoter modifies the risk of prostate cancer. Int J Cancer 100:683–685

    PubMed  CAS  Google Scholar 

  • Wang LE, Cheng L, Spitz MR, Wei Q (2003) Fas A670G polymorphism, apoptotic capacity in lymphocyte cultures, and risk of lung cancer. Lung Cancer 42:1–8

    PubMed  CAS  Google Scholar 

  • Wray NR, Goddard ME, Visscher PM (2008) Prediction of individual genetic risk of complex disease. Curr Opin Genet Dev 18:257–263

    PubMed  CAS  Google Scholar 

  • Yeager M, Xiao N, Hayes RB, Bouffard P, Desany B, Burdett L et al (2008) Comprehensive resequence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers. Hum Genet 124:161–170

    PubMed  CAS  Google Scholar 

  • Yeager M, Chatterjee N, Ciampa J, Jacobs KB, Gonzalez-Bosquet J, Hayes RB et al (2009) Identification of a new prostate cancer susceptibility locus on chromosome 8q24. Nat Genet 41:1055–1057

    PubMed  CAS  Google Scholar 

  • Yeh CC, Lee C, Dahiya R (2001) DNA mismatch repair enzyme activity and gene expression in prostate cancer. Biochem Biophys Res Commun 285:409–413

    PubMed  CAS  Google Scholar 

  • Yoon SO, Park SJ, Yun CH, Chung AS (2003) Roles of matrix metalloproteinases in tumor metastasis and angiogenesis. J Biochem Mol Biol 36:128–137

    PubMed  CAS  Google Scholar 

  • Zabaleta J, Lin H-Y, Sierra RA et al (2008) Interactions of cytokine gene polymorphisms in prostate cancer risk. Carcinogenesis 29:573–578

    PubMed  CAS  Google Scholar 

  • Zabaleta J, Su LJ, Lin H-Y et al (2009) Cytokine genetic polymorphisms and prostate cancer aggressiveness. Carcinogenesis 30:1358–1362

    PubMed  CAS  Google Scholar 

  • Zeegers MP, Kiemeney LA, Nieder AM, Ostrer H (2004) How strong is the association between CAG and GGN repeat length polymorphisms in the androgen receptor gene and prostate cancer risk? Cancer Epidemiol Biomarkers Prev 13:1765

    PubMed  CAS  Google Scholar 

  • Zhang X, Miao X, Sun T, Tan W, Qu S, Xiong P et al (2005) Functional polymorphisms in cell death pathway genes FAS and FASL contribute to risk of lung cancer. J Med Genet 42:479–484

    PubMed  CAS  Google Scholar 

  • Zhang Z, Wang LE, Sturgis EM, El-Naggar AK, Hong WK, Amos CI et al (2006) Polymorphisms of FAS and FAS ligand genes involved in the death pathway and risk and progression of squamous cell carcinoma of the head and neck. Clin Cancer Res 12:5596–5602

    PubMed  CAS  Google Scholar 

  • Zheng SL, Sun J, Cheng Y, Li G, Hsu FC, Zhu Y et al (2007) Association between two unlinked loci at 8q24 and prostate cancer risk among European Americans. J Natl Cancer Inst 99:1525–1533

    PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Department of Advanced Biomedical Sciences, Pathology Section, Faculty of Medicine and Surgery, University of Naples “Federico II”, via S. Pansini, n.5, Naples, Italy

    Maria Siano, MariaLuisa Vecchione & Gennaro Ilardi

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  1. Maria Siano
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  2. MariaLuisa Vecchione
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  3. Gennaro Ilardi
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Correspondence to Maria Siano .

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  1. Biomedical Advanced Sciences Pathology Section, University Federico II of Naples, Naples, Italy

    Stefania Staibano

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Siano, M., Vecchione, M., Ilardi, G. (2013). Gene Polymorphisms. In: Staibano, S. (eds) Prostate Cancer: Shifting from Morphology to Biology. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-7149-9_9

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