The Y deletion gr/gr and susceptibility to testicular germ cell tumor

American Journal of Human Genetics

Volumn 77, Issue 6, 2005, Pages 1034-1043

  Nathanson, Katherine L ^a,b   Kanetsky, Peter A ^b   Hawes, Rachel ^c   Vaughn, David J ^b   Letrero, Richard ^b   Tucker, Kathy ^d   Friedlander, Michael ^d   Phillips, Kelly Anne ^e   Hogg, David ^f   Jewett, Michael A S ^f   Lohynska, Radka ^g   Daugaard, Gedske ^h   Richard, Stéphane ⁱ   Chompret, Agnès ^j   Bonaïti Pellié, Catherine ^k   Heidenreich, Axel ^l   Olah, Edith ^m   Geczi, Lajos ^m   Bodrogi, Istvan ^m   Ormiston, Wilma J ⁿ   Daly, Peter A ⁿ   Oosterhuis, J Wolter ^o   Gillis, Ad J M ^o   Looijenga, Leendert H J ^o   Guilford, Parry ^p   Fosså, Sophie D ^q   Heimdal, Ketil ^q   Tjulandin, Sergei A ^r   Liubchenko, Ludmila ^r   Stoll, Hans ^s   Weber, Walter ^s   Rudd, Matthew ^c   Huddart, Robert ^c   Crockford, Gillian P ^t   Forman, David ^t   Oliver, D Timothy ^u   Einhorn, Lawrence ^v   Weber, Barbara L ^b   Kramer, Joan ^w   McMaster, Mary ^w   Greene, Mark H ^w   Pike, Malcolm ^x   Cortessis, Victoria ^x   Chen, Chu ^y   Schwartz, Stephen M ^y   Bishop, D Timothy ^t   Easton, Douglas F ^z   Stratton, Michael R ^c   Rapley, Elizabeth A ^c   more..

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^d UNIVERSITY OF NEW SOUTH WALES   (Australia)

^e PETER MACCALLUM CANCER CENTRE   (Australia)

^f UNIVERSITY OF TORONTO   (Canada)

^g CHARLES UNIVERSITY   (Czech Republic)

^h Rigshospitalet   (Denmark)

ⁱ UNIVERSITÉ PARIS SACLAY   (France)

^j INSTITUT GUSTAVE ROUSSY   (France)

^k HÔPITAL PAUL BROUSSE   (France)

^l PHILIPPS UNIVERSITY MARBURG   (Germany)

^m NATIONAL INSTITUTE OF ONCOLOGY   (Hungary)

ⁿ ST JAMES S HOSPITAL   (Ireland)

^o JOSEPHINE NEFKENS INSTITUTE   (Netherlands)

^p UNIVERSITY OF OTAGO   (New Zealand)

^q OSLO UNIVERSITY HOSPITAL   (Norway)

^r N N BLOKHIN RUSSIAN CANCER RESEARCH CENTER   (Russian Federation)

^s UNIVERSITY HOSPITAL BASEL   (Switzerland)

^t ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^u QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^v INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^w NATIONAL CANCER INSTITUTE   (United States)

^x UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^y Fred Hutchinson Cancer Research Center   (United States)

^z UNIVERSITY OF CAMBRIDGE   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUSTRALIA; CANADA; CANCER RISK; CASE CONTROL STUDY; CHROMOSOME DELETION Y; CHROMOSOME YQ; CONTROLLED STUDY; CZECH REPUBLIC; DENMARK; FAMILY HISTORY; GENETIC SUSCEPTIBILITY; GENOTYPE; GERM CELL TUMOR; HAPLOTYPE; HUMAN; HUNGARY; IRELAND; MAJOR CLINICAL STUDY; MALE; MALE INFERTILITY; NETHERLANDS; NON SEMINOMATOUS GERMINOMA; NORWAY; PEDIGREE; PENETRANCE; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; RUSSIAN FEDERATION; SEMINOMA; STATISTICAL ANALYSIS; SWITZERLAND; UNITED KINGDOM; UNITED STATES;

EID: 28144443108     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/498455     Document Type: Article

References (45)

1. Adami HO, Bergstrom R, Mohner M, Zatonski W, Storm H, Ekbom A, Tretli S, Teppo L, Ziegler H, Rahu M, Gurevicius R, Stengrevics A (1994) Testicular cancer in nine northern European countries. Int J Cancer 59:33-38
2. Akre O, Lipworth L, Cnattingius S, Sparen P, Ekbom A (1999) Risk factor patterns for cryptorchidism and hypospadias. Epidemiology 10:364-369
3. Bergstrom R, Adami HO, Mohner M, Zatonski W, Storm H, Ekbom A, Tretli S, Teppo L, Akre O, Hakulinen T (1996) Increase in testicular cancer incidence in six European countries: a birth cohort phenomenon. J Natl Cancer Inst 88:727-733
4. Bosl GJ, Sheinfeld J, Bajorin DF, Motzer RJ (1997) Cancer of the testis. In: Devita VT, Hellman S, Rosenberg SA (eds) Cancer: principles & practice of oncology. Lippincott-Raven, Philadelphia, pp 1397-1425
5. Davies JM (1981) Testicular cancer in England and Wales: some epidemiological aspects. Lancet 1:928-932
6. de Llanos M, Ballesca JL, Gazquez C, Margarit E, Oliva R (2005) High frequency of gr/gr chromosome Y deletions in consecutive oligospermic ICSI candidates. Hum Reprod 20:216-220
7. Dorus S, Gilbert SL, Forster ML, Barndt RJ, Lahn BT (2003) The CDY-related gene family: coordinated evolution in copy number, expression profile and protein sequence. Hum Mol Genet 12:1643-1650
8. Ferlay J, Bray F, Pisani P, Parkin DM (2004) GLOBOCAN 2002: cancer incidence, mortality and prevalence worldwide, version 2.0. IARC Press, Lyon
9. Ferlin A, Tessari A, Ganz F, Marchina E, Barlati S, Garolla A, Engl B, Foresta C (2005) Association of partial AZFc region deletions with spermatogenic impairment and male infertility. J Med Genet 42:209-213
10. Forman D, Oliver RT, Brett AR, Marsh SG, Moses JH, Bodmer JG, Chilvers CE, Pike MC (1992) Familial testicular cancer: a report of the UK family register, estimation of risk and an HLA class 1 sib-pair analysis. Br J Cancer 65:255-262
11. Frydelund-Larsen L, Vogt PH, Leffers H, Schadwinkel A, Daugaard G, Skakkebaek NE, Rajpert-De Meyts E (2003) No AZF deletion in 160 patients with testicular germ cell neoplasia. Mol Hum Reprod 9:517-521
12. Ginalski K, Rychlewski L, Baker D, Grishin NV (2004) Protein structure prediction for the male-specific region of the human Y chromosome. Proc Natl Acad Sci USA 101:2305-2310
13. Heimdal K, Olsson H, Tretli S, Flodgren P, Borresen AL, Fossa SD (1996) Familial testicular cancer in Norway and southern Sweden. Br J Cancer 73:964-969
14. Hemminki K, Eng C (2004) Clinical genetic counselling for familial cancers requires reliable data on familial cancer risks and general action plans. J Med Genet 41:801-807
15. Hemminki K, Li X (2004) Familial risk in testicular cancer as a clue to a heritable and environmental etiology. Br J Cancer 90:1765-1770
16. Hucklenbroich K, Gromoll J, Heinrich M, Hohoff C, Nieschlag E, Simoni M (2005) Partial deletions in the AZFc region of the Y chromosome occur in men with impaired as well as normal spermatogenesis. Hum Reprod 20:191-197
17. Huyghe E, Matsuda T, Thonneau P (2003) Increasing incidence of testicular cancer worldwide: a review. J Urol 170:5-11
18. Jacobsen R, Bostofte E, Engholm G, Hansen J, Olsen JH, Skakkebaek NE, Moller H (2000) Risk of testicular cancer in men with abnormal semen characteristics: cohort study. BMJ 321:789-792
19. Jemal A, Tiwari RC, Murray T, Ghafoor A, Samuels A, Ward E, Feuer EJ, Thun MJ, American Cancer Society (2004) Cancer statistics, 2004. CA Cancer J Clin 54:8-29
20. Kleiman SE, Yogev L, Hauser R, Botchan A, Bar-Shira Maymon B, Schreiber L, Paz G, Yavetz H (2003) Members of the CDY family have different expression patterns: CDY1 transcripts have the best correlation with complete spermatogenesis. Hum Genet 113:486-492
21. Kuroda-Kawaguchi T, Skaletsky H, Brown LG, Minx PJ, Cordum HS, Waterston RH, Wilson RK, Silber S, Gates R, Rozen S, Page DC (2001) The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet 29:279-286
22. Lahn BT, Tang ZL, Zhou J, Barndt RJ, Parvinen M, Allis CD, Page DC (2002) Previously uncharacterized histone acetyltransferases implicated in mammalian spermatogenesis. Proc Nad Acad Sci USA 99:8707-8712
23. Lilford R, Jones AM, Bishop DT, Thornton J, Mueller R (1994) Case-control study of whether subfertility in men is familial. BMJ 309:570-573
24. Lynch M, Cram DS, Reilly A, O'Bryan MK, Baker HW, de Kretser DM, McLachlan RI (2005) The Y chromosome gr/gr subdeletion is associated with male infertility. Mol Hum Reprod 11:507-512
25. Machev N, Saut N, Longepied G, Terriou P, Navarro A, Levy N, Guichaoua M, Metzler-Guillemain C, Collignon P, Frances AM, Belougne J, Clemente E, Chiaroni J, Chevillard C, Durand C, Ducourneau A, Pech N, McElreavey K, Mattei MG, Mitchell MJ (2004) Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility. J Med Genet 41:814-825
26. Moller H, Skakkebaek NE (1996) Risks of testicular cancer and cryptorchidism in relation to socio-economic status and related factors: case-control studies in Denmark. Int J Cancer 66:287-293
27. - (1999) Risk of testicular cancer in subfertile men: case-control study. BMJ 318:559-562
28. Petersen PM, Giwercman A, Skakkebaek NE, Rorth M (1998a) Gonadal function in men with testicular cancer. Semin Oncol 25:224-233
29. Petersen PM, Skakkebaek NE, Giwercman A (1998b) Gonadal function in men with testicular cancer: biological and clinical aspects. APMIS 106:24-34
30. Quintana-Murci L, Weale ME, Thomas MG, Erdei E, Bradman N, Shanks JH, Krausz C, McElreavey K (2003) Y chromosome haplotypes and testicular cancer in the English population. J Med Genet 40:e20
31. Rapley EA, Crockford GP, Teare D, Biggs P, Seal S, Barfoot R, Edwards S, et al (2000) Localization to Xq27 of a susceptibility gene for testicular germ-cell tumours. Nat Genet 24:197-200
32. Reijo R, Lee T-Y, Salo P, Alagappan R, Brown LG, Rosenberg M, Rozen S, Jaffe T, Straus D, Hovatta O, de la Chapelle A, Silber S, Page DC (1995) Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet 10:383-393
33. Reijo R, Seligman J, Dinulos MB, Jaffe T, Brown LG, Disteche CM, Page DC (1996) Mouse autosomal homolog of DAZ, a candidate male sterility gene in humans, is expressed in male germ cells before and after puberty. Genomics 35:346-352
34. Reijo RA, Dorfman DM, Slee R, Renshaw AA, Loughlin KR, Cooke H, Page DC (2000) DAZ family proteins exist throughout male germ cell development and transit from nucleus to cytoplasm at meiosis in humans and mice. Biol Reprod 63:1490-1496
35. Repping S, Korver CM, Oates RD, Silber S, van der Veen F, Page DC, Rozen S (2004) Are sequence family variants useful for identifying deletions in the human Y chromosome? Am J Hum Genet 75:514-517
36. Repping S, Skaletsky H, Brown L, van Daalen SK, Korver CM, Pyntikova T, Kuroda-Kawaguchi T, de Vries JW, Oates RD, Silber S, van der Veen F, Page DC, Rozen S (2003) Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection. Nat Genet 35:247-251
37. Reynolds N, Cooke HJ (2005) Role of the DAZ genes in male fertility. Reprod Biomed Online 10:72-80
38. Richiardi L, Akre O, Montgomery SM, Lambe M, Kvist U, Ekbom A (2004) Fecundity and twinning rates as measures of fertility before diagnosis of germ-cell testicular cancer. J Natl Cancer Inst 96:145-147
39. Ries LA, Eisner MP, Kosary CL, Hankey BF, Miller BA, Clegg L, Mariotto A, Feuer EJ, Edwards BK (2004) SEER cancer statistics review, 1975-2001. National Cancer Institute, Bethesda, MD
40. Saxena R, Brown LG, Hawkins T, Alagappan RK, Skaletsky H, Reeve MP, Reijo R, Rozen S, Dinulos MB, Disteche CM, Page DC (1996) The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned. Nat Genet 14:292-299
41. Schottenfeld D, Warshauer ME, Sherlock S, Zauber AG, Leder M, Payne R (1980) The epidemiology of testicular cancer in young adults. Am J Epidemiol 112:232-246
42. Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L, Brown LG, Repping S, et al (2003) The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 423:825-837
43. Sonneveld DJ, Sleijfer DT, Schrafford Koops H, Sijmons RH, van der Graaf WT, Sluiter WJ, Hoekstra HJ (1999) Familial testicular cancer in a single-centre population. Eur J Cancer 35:1368-1373
44. Vogt PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, Kiesewetter F, Kohn FM, Schill WB, Farah S, Ramos C, Hartmann M, Hartschuh W, Meschede D, Behre HM, Castel A, Nieschlag E, Weidner W, Grone HJ, Jung A, Engel W, Haidl G (1996) Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet 5:933-943
45. Westergaard T, Olsen JH, Frisch M, Kroman N, Nielsen JW, Melbye M (1996) Cancer risk in fathers and brothers of testicular cancer patients in Denmark: a population-based study. Int J Cancer 66:627-631