Gene variations in sex hormone pathways and the risk of testicular germ cell tumour: A caseparent triad study in a NorwegianSwedish population

Human Reproduction

Volumn 27, Issue 5, 2012, Pages 1525-1535

  Kristiansen, W ^a   Andreassen, K E ^b   Karlsson, R ^c   Aschim, E L ^a   Bremnes, R M ^d,e   Dahl, O ^f,g   Fossa S D ^h,i   Klepp, O ^j   Langberg, C W ^k   Solberg, A ^l   Tretli, S ^b   Adami, H O ^c,m   Wiklund, F ^c   Grotmol, T ^b   Haugen, T B ^a  

^a OSLO METROPOLITAN UNIVERSITY   (Norway)

^b CANCER REGISTRY OF NORWAY   (Norway)

^c KAROLINSKA INSTITUTE   (Sweden)

^d UNIVERSITY HOSPITAL OF NORTH NORWAY   (Norway)

^e UNIVERSITY OF TROMSØ   (Norway)

^f HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^g UNIVERSITY OF BERGEN   (Norway)

^h OSLO UNIVERSITY HOSPITAL   (Norway)

ⁱ UNIVERSITY OF OSLO   (Norway)

^j Lesund Hospital   (Norway)

^k OSLO UNIVERSITY HOSPITAL   (Norway)

^l TRONDHEIM UNIVERSITY HOSPITAL   (Norway)

^m HARVARD SCHOOL OF PUBLIC HEALTH   (United States)

more..

Author keywords

Caseparent triad; Polymorphisms; Sex hormone pathway genes; Testicular germ cell tumour

Indexed keywords

SEX HORMONE;

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; CONTROLLED STUDY; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; NORWAY; RISK REDUCTION; SEMINOMA; SINGLE NUCLEOTIDE POLYMORPHISM; SWEDEN; TESTIS NONSEMINOMA CANCER;

EID: 84860174042     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/des075     Document Type: Article

References (53)

1. Akre O, Richiardi L. Does a testicular dysgenesis syndrome exist? Hum Reprod 2009;24: 2053-2060.
2. Aschim EL, Saether T, Wiger R, Grotmol T, Haugen TB. Differential distribution of splice variants of estrogen receptor beta in human testicular cells suggests specific functions in spermatogenesis. J Steroid Biochem Mol Biol 2004;92: 97-106. (Pubitemid 39486067)
3. Bray F, Richiardi L, Ekbom A, Forman D, Pukkala E, Cuninkova M, Moller H. Do testicular seminoma and nonseminoma share the same etiology? Evidence from an age-period-cohort analysis of incidence trends in eight European countries. Cancer Epidemiol Biomarkers Prev 2006;15: 652-658.
4. Cai Q, Kataoka N, Li C, Wen W, Smith JR, Gao YT, Shu XO, Zheng W. Haplotype analyses of CYP19A1 gene variants and breast cancer risk: results from the Shanghai Breast Cancer Study. Cancer Epidemiol Biomarkers Prev 2008;17: 27-32. (Pubitemid 351196270)
5. Chia VM, Quraishi SM, Devesa SS, Purdue MP, Cook MB, McGlynn KA. International trends in the incidence of testicular cancer, 1973-2002. Cancer Epidemiol Biomarkers Prev 2010;19: 1151-1159.
6. Darabi H, Czene K, Wedre S, Li Y, Liu J, Hall P, Humphreys K. Genetic variation in the androgen estrogen conversion pathway in relation to breast cancer prognosticators. Breast Cancer Res Treat 2011; 127: 503-509.
7. Davis-Dao CA, Siegmund KD, Vandenberg DJ, Skinner EC, Coetzee GA, Thomas DC, Pike MC, Cortessis VK. Heterogenous effect of androgen receptor CAG tract length on testicular germ cell tumor risk: shorter repeats associated with seminoma but not other histologic types. Carcinogenesis 2011;32: 1238-1243.
8. de Bakker PIW, Yelensky R, Pe'er I, Gabriel SB, Daly MJ, Altshuler D. Efficiency and power in genetic association studies. Nat Genet 2005; 37: 1217-1223. (Pubitemid 41568704)
9. Dong C, Lönstedt I, Hemminki K. Familial testicular cancer and second primary cancers in testicular cancer patients by histological type. Eur J Cancer 2001;37: 1878-1885. (Pubitemid 32913316)
10. Dudbridge F. Likelihood-based association analysis for nuclear families and unrelated subjects with missing genotype data. Hum Hered 2008; 66: 87-98. (Pubitemid 351482562)
11. Engholm G, Ferlay J, Christensen N, Bray F, Gjerstorff ML, Klint Å , Klum JE, Olafsdottir E, Pukkala E, Storm HH. NORDCAN-a Nordic tool for cancer information, planning, quality control and research. Acta Oncol 2010;49: 725-736.
12. Ferlin A, Pengo M, Selice R, Salmaso L, Garolla A, Foresta C. Analysis of single nucleotide polymorphisms of FSH receptor gene suggests association with testicular cancer susceptibility. Endocr Relat Cancer 2008;15: 429-437. (Pubitemid 351880832)
13. Ferlin A, Ganz F, Pengo M, Selice R, Frigo AC, Foresta C. Association of testicular germ cell tumor with polymorphisms in estrogen receptor and steroid metabolism genes. Endocr Relat Cancer 2010;17: 17-25.
14. Figueroa J, Sakoda L, Graubard B, Chanock S, Rubertone M, Erickson R, McGlynn K. Genetic variation in hormone metabolizing genes and risk of testicular germ cell tumors. Cancer Causes Control 2008;19: 917-929.
15. Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, DeFelice M, Lochner A, Faggart M et al. The structure of haplotype blocks in the human genome. Science 2002;296: 2225-2229. (Pubitemid 34680308)
16. Haiman CA, Dossus L, Setiawan VW, Stram DO, Dunning AM, Thomas G, Thun MJ, Albanes D, Altshuler D, Ardanaz E 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. (Pubitemid 46424203)
17. Hemminki K, Li X. Familial risk in testicular cancer as a clue to a heritable and environmental aetiology. Br J Cancer 2004;90: 1765-1770. (Pubitemid 38725649)
18. Hess RA. Oestrogen in fluid transport in efferent ducts of the male reproductive tract. Rev Reprod 2000;5: 84-92. (Pubitemid 30303562)
19. Hirvonen-Santti SJ, Rannikko A, Santti H, Savolainen S, Nyberg M, Jane OA, Palvimo JJ. Down-regulation of estrogen receptor b and transcriptional coregulator SNURF/RNF4 in testicular germ cell cancer. Eur Urol 2003;44: 742-747. (Pubitemid 37542935)
20. Hoei-Hansen CE, Rajpert-De Meyts E, Daugaard G, Skakkebaek NE. Carcinoma in situ testis, the progenitor of testicular germ cell tumours: a clinical review. Ann Oncol 2005;16: 863-868. (Pubitemid 40903910)
21. Holl K, Lundin E, Surcel H-M, Grankvist K, Koskela P, Dillner J, Hallmans G, Wadell G, Olafsdottir GH, Ogmundsdottir HM et al. Endogenous steroid hormone levels in early pregnancy and risk of testicular cancer in the offspring: a nested case-referent study. Int J Cancer 2009;124: 2923-2928.
22. Howie BN, Donnelly P, Marchini J. A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet 2009;5: e1000529.
23. Huyghe E, Matsuda T, Thonneau P. Increasing incidence of testicular cancer worldwide: a review. J Urol 2003;170: 5-11. (Pubitemid 36734401)
24. Kanetsky PA, Mitra N, Vardhanabhuti S, Li M, Vaughn DJ, Letrero R, Ciosek SL, Doody DR, Smith LM, Weaver J et al. Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer. Nat Genet 2009;41: 811-815.
25. Kristiansen W, Haugen TB, Witczak O, Andersen JM, Fossa SD, Aschim EL. CYP1A1, CYP3A5 and CYP3A7 polymorphisms and testicular cancer susceptibility. Int J Androl 2011;34: 77-83.
26. Nordmark A, Lundgren S, Ask B, Granath F, Rane A. The effect of the CYP1A2 *1F mutation on CYP1A2 inducibility in pregnant women. Br J Clin Pharmacol 2002;54: 504-510. (Pubitemid 35356876)
27. Oosterhuis JW, Looijenga LH. Testicular germ-cell tumours in a broader perspective. Nat Rev Cancer 2005;5: 210-222. (Pubitemid 40314952)
28. Pais V, Leav I, Lau K-M, Jiang Z, Ho S-M. Estrogen receptor-b expression in human testicular germ cell tumors. Clin Cancer Res 2003; 9: 4475-4482. (Pubitemid 37248406)
29. Pasquali D, Rossi V, Esposito D, Abbondanza C, Puca GA, Bellastella A, Sinisi AA. Loss of estrogen receptor beta expression in malignant human prostate cells in primary cultures and in prostate cancer tissues. J Clin Endocrinol Metab 2001;86: 2051-2055. (Pubitemid 32472918)
30. Rahman I, Bennet AM, Pedersen NL, de Faire U, Svensson P, Magnusson PK. Genetic dominance influences blood biomarker levels in a sample of 12,000 Swedish elderly twins. Twin Res Hum Genet 2009;12: 286-294.
31. Rajpert-De Meyts E. Developmental model for the pathogenesis of testicular carcinoma in situ: genetic and environmental aspects. Hum Reprod Update 2006;12: 303-323.
32. Rapley EA, Turnbull C, Al Olama AA, Dermitzakis ET, Linger R, Huddart RA, Renwick A, Hughes D, Hines S, Seal S et al. A genome-wide association study of testicular germ cell tumor. Nat Genet 2009;41: 807-810.
33. Raskin L, Lejbkowicz F, Barnett-Griness O, Dishon S, Almog R, Rennert G. BRCA1 breast cancer risk is modified by CYP19 polymorphisms in Ashkenazi Jews. Cancer Epidemiol Biomarkers Prev 2009;18: 1617-1623.
34. Richiardi L, Bellocco R, Adami H-O, Torrang A, Barlow L, Hakulinen T, Rahu M, Stengrevics A, Storm H, Tretli S et al. Testicular cancer incidence in eight northern European countries: secular and recent trends. Cancer Epidemiol Biomarkers Prev 2004;13: 2157-2166. (Pubitemid 40054312)
35. Roger P, Sahla ME, Makela S, Gustafsson JA, Baldet P, Rochefort H. Decreased expression of estrogen receptor beta protein in proliferative preinvasive mammary tumors. Cancer Res 2001; 61: 2537-2541. (Pubitemid 32685835)
36. Rylander-Rudqvist T, Hakansson N, Tybring G, Wolk A. Quality and quantity of saliva DNA obtained from the self-administrated oragene method-a pilot study on the cohort of Swedish men. Cancer Epidemiol Biomarkers Prev 2006;15: 1742-1745. (Pubitemid 44497113)
37. Sachse C, Brockmoller J, Bauer S, Roots I. Functional significance of a C-A polymorphism in intron 1 of the cytochrome P450 CYP1A2 gene tested with caffeine. Br J Clin Pharmacol 1999;47: 445-449. (Pubitemid 29161279)
38. Saunders PTK, Millar MR, Macpherson S, Irvine DS, Groome NP, Evans LR, Sharpe RM, Scobie GA. ERb1 and the ERb2 splice variant (ERbcx/b2) are expressed in distinct cell populations in the adult human testis. J Clin Endocrinol Metab 2002;87: 2706-2715. (Pubitemid 34655334)
39. Sharpe RM. Hormones and testis development and the possible adverse effects of environmental chemicals. Toxicol Lett 2001;120: 221-232. (Pubitemid 32375089)
40. Sharpe RM. The 'oestrogen hypothesis'-where do we stand now? Int J Androl 2003;26: 2-15.
41. Sierens JE, Sneddon SF, Collins F, Millar MR, Saunders PTK. Estrogens in testis biology. Ann N Y Acad Sci 2005;1061: 65-76. (Pubitemid 43211587)
42. Skakkebaek NE, Rajpert-De Meyts E, Main KM. Testicular dysgenesis syndrome: an increasingly common developmental disorder with environmental aspects. Hum Reprod 2001;16: 972-978. (Pubitemid 32451837)
43. Staibano S, Franco R, Mezza E, Chieffi P, Sinisi A, Pasquali D, Errico ME, Nappi C, Tremolaterra F, Somma P et al. Loss of oestrogen receptor beta, high PCNA and p53 expression and aneuploidy as markers of worse prognosis in ovarian granulosa cell tumours. Histopathology 2003;43: 254-262. (Pubitemid 37115059)
44. Starr JR, Chen C, Doody DR, Hsu L, Ricks S, Weiss NS, Schwartz SM. Risk of testicular germ cell cancer in relation to variation in maternal and offspring cytochrome P450 genes involved in catechol estrogen metabolism. Cancer Epidemiol Biomarkers Prev 2005; 14: 2183-2190. (Pubitemid 41603266)
45. Strimmer K. fdrtool: a versatile R package for estimating local and tail area-based false discovery rates. Bioinformatics 2008a;24: 1461-1462. (Pubitemid 351851002)
46. Strimmer K. A unified approach to false discovery rate estimation. BMC Bioinformatics 2008b;9: 303.
47. The International HapMap Consortium. The International HapMap Project. Nature 2003;426: 789-796.
48. Thomas C, Gustafsson J-A . The different roles of ER subtypes in cancer biology and therapy. Nat Rev Cancer 2011;11: 597-608.
49. Turnbull C, Rapley EA, Seal S, Pernet D, Renwick A, Hughes D, Ricketts M, Linger R, Nsengimana J, Deloukas P et al. Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer. Nat Genet 2010;42: 604-607.
50. Walschaerts M, Huyghe E, Muller A, Bachaud J-M, Bujan L, Thonneau P. Doubling of testicular cancer incidence rate over the last 20years in southern France. Cancer Causes Control 2008;19: 155-161.
51. Weir HK, Marrett LD, Moravan V. Trends in the incidence of testicular germ cell cancer in Ontario by histologic subgroup, 1964-1996. CMAJ 1999;160: 213-214.
52. Weyant MJ, Carothers AM, Mahmoud NN, Bradlow HL, Remotti H, Bilinski RT, Bertagnolli MM. Reciprocal expression of ERalpha and ERbeta is associated with estrogen-mediated modulation of intestinal tumorigenesis. Cancer Res 2001;61: 2547-2551. (Pubitemid 32685837)
53. Wohlfahrt-Veje C, Main KM, Skakkeb NE. Testicular dysgenesis syndrome: foetal origin of adult reproductive problems. Clin Endocrinol (Oxf) 2009;71: 459-465.