Prostate cancer susceptibility genes: Lessons learned and challenges posed

Endocrine-Related Cancer

Volumn 10, Issue 2, 2003, Pages 225-259

  Simard, J ^a   Dumont, M ^a   Labuda, D ^b   Sinnett, D ^b   Meloche, C ^b   El Alfy, M ^a   Berger, L ^a   Lees, E ^c   Labrie, F ^a   Tavtigian, S V ^d  

^a LAVAL UNIVERSITY   (Canada)

^b UNIVERSITY OF MONTREAL   (Canada)

^c MERCK RESEARCH LABORATORIES   (United States)

^d INTERNATIONAL AGENCY FOR RESEARCH ON CANCER   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN; RIBONUCLEASE; RIBONUCLEASE L; UNCLASSIFIED DRUG;

BIOSYNTHESIS; CANCER DIAGNOSIS; CANCER INCIDENCE; CANCER RISK; CANCER SCREENING; CHROMOSOME 17P; CHROMOSOME 8P; COHORT ANALYSIS; CONFERENCE PAPER; DEVELOPED COUNTRY; DISEASE ASSOCIATION; ELAC2 GENE; ENVIRONMENTAL FACTOR; ETHNIC DIFFERENCE; FAMILY HISTORY; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC CODE; GENETIC MARKER; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HEREDITY; HORMONE ACTION; HUMAN; HUMAN TISSUE; HYPOTHESIS; INHERITANCE; MALE; MSR1 GENE; ONCOGENE; OVARY CANCER; PROSTATE CANCER; RACE DIFFERENCE; RISK FACTOR; RNASEL GENE;

CHROMOSOME MAPPING; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LOSS OF HETEROZYGOSITY; MALE; NEOPLASM PROTEINS; PROSTATIC NEOPLASMS;

EID: 0038537569     PISSN: 13510088     EISSN: None     Source Type: Journal    
DOI: 10.1677/erc.0.0100225     Document Type: Conference Paper

References (153)

1. Abkevich V, Camp NJ, Gutin A, Farnham JM, Cannon-Albright L & Thomas A 2001 A robust multipoint linkage statistic (tlod) for mapping complex trait loci. Genetic Epidemiology 2001 21 S492-S497.
2. Anderson DE & Badzioch MD 1992 Breast cancer risks in relatives of male breast cancer patients. Journal of the National Cancer Institute 1992 84 1114-1117.
3. Badzioch M, Eeles R, Leblanc G, Foulkes WD, Giles G, Edwards S, Goldgar D, Hopper JL, Bishop DT, Moller P, Heimdal K, Easton D & Simard J 2000 Suggestive evidence for a site specific prostate cancer gene on chromosome 1p36. The CRC/BPG UK Familial Prostate Cancer Study Coordinators and Collaborators. The EU Biomed Collaborators. Journal of Medical Genetics 37 947-949.
4. Beilin J, Ball EM, Favaloro JM & Zajac JD 2000 Effect of the androgen receptor CAG repeat polymorphism on transcriptional activity: specificity in prostate and non-prostate cell lines. Journal of Molecular Endocrinology 2000 25 85-96.
5. Beilin J, Harewood L, Frydenberg M, Mameghan H, Martyres RF, Farish SJ, Yue C, Deam DR, Byron KA & Zajac JD 2001 A case-control study of the androgen receptor gene CAG repeat polymorphism in Australian prostate carcinoma subjects. Cancer 2001 92 941-949.
6. Berry R, Schaid DJ, Smith JR, French AJ, Schroeder JJ, McDonnell SK, Peterson BJ, Wang ZY, Carpten JD, Roberts SG, Tester DJ, Blute ML, Trent JM & Thibodeau SN 2000a Linkage analyses at the chromosome 1 loci 1q24-25 (HPC1), 1q42.2-43 (PCAP), and 1p36 (CAPB) in families with hereditary prostate cancer. American Journal of Human Genetics 66 539-546.
7. Berry R, Schroeder JJ, French AJ, McDonnell SK, Peterson BJ, Cunningham JM, Thibodeau SN & Schaid DJ 2000b Evidence for a prostate cancer-susceptibility locus on chromosome 20. American Journal of Human Genetics 67 82-91.
8. Berthon P, Valeri A, Cohen-Akenine A, Drelon E, Paiss T, Wohr G, Latil A, Millasseau P, Mellah I, Cohen N et al. 1998 Predisposing gene for early-onset prostate cancer, localized on chromosome 1q42.2-43. American Journal of Human Genetics 62 1416-1424.
9. Blackshaw S, Fraioli RE, Furukawa T & Cepko CL 2001 Comprehensive analysis of photoreceptor gene expression and the identification of candidate retinal disease genes. Cell 107 579-589.
10. Bochum S, Paiss T, Vogel W, Herkommer K, Hautmann R & Haeussler J 2002 Confirmation of the prostate cancer susceptibility locus HPCX in a set of 104 German prostate cancer families. Prostate 52 12-19.
11. Bock CH, Cunningham JM, McDonnell SK, Schaid DJ, Peterson BJ, Pavlic RJ, Schroeder JJ, Klein J, French AJ, Marks A, Thibodeau SN, Lange EM & Cooney KA 2001 Analysis of the prostate cancer-susceptibility locus HPC20 in 172 families affected by prostate cancer. American Journal of Human Genetics 68 795-801.
12. Bostwick DG 1995 High grade prostatic intraepithelial neoplasia. The most likely precursor of prostate cancer. Cancer Epidemiology, Biomarkers and Prevention 75 1823-1836.
13. Bostwick DG & Dundore PA 1997 Biopsy Pathology of the Prostate. London: Chapman & Hall.
14. Bratt O, Borg A, Kristoffersson U, Lundgren R, Zhang QX & Olsson H 1999 CAG repeat length in the androgen receptor gene is related to age at diagnosis of prostate cancer and response to endocrine therapy, but not to prostate cancer risk. British Journal of Cancer 81 672-676.
15. Camp NJ & Tavtigian SV 2002 Meta analysis of associations of the Ser217Leu and Ala541Thr Variants in ELAC2 (HPC2) and prostate cancer. American Journal of Human Genetics 71 1475-1478.
16. Cancel-Tassin G, Latil A, Valeri A, Mangin P, Fournier G, Berthon P & Cussenot O 2001a PCAP is the major known prostate cancer predisposing locus in families from south and west Europe. European Journal of Human Genetics 9 135-142.
17. Cancel-Tassin G, Latil A, Valeri A, Guillaume E, Mangin P, Fournier G, Berthon P & Cussenot O 2001b No evidence of linkage to HPC20 on chromosome 20q13 in hereditary prostate cancer. International Journal of Cancer 93 455-456.
18. Cannon L, Bishop DT, Skolnick M, Hunt S, Lyon JL & Smart CR 1982 Genetic epidemiology of prostate cancer in the Utah mormon genealogy. Cancer Surveys 1 47-69.
19. Cannon-Albright LA, Goldgar DE, Meyer LJ, Lewis CM, Anderson DE, Fountain JW, Hegi ME, Wiseman RW, Petty EM, Bale AE et al. 1992 Assignment of a locus for familial melanoma MLM, to chromosome 9p13-p22. Science 258 1148-1152.
20. Carpten J, Nupponen N, Isaacs S, Sood R, Robbins C, Xu J, Faruque M, Moses T, Ewing C, Gillanders E et al. 2002 Germline mutations in the ribonuclease L gene in families showing linkage with HPC1. Nature Genetics 30 181-184.
21. Carter BS, Beaty TH, Steinberg GD, Childs B & Walsh PC 1992 Mendelian inheritance of familial prostate cancer. PNAS 89 3367-3371.
22. Casey G, Neville PJ, Plummer SJ, Xiang Y, Krumroy LM, Klein EA, Catalona WJ, Nupponen N, Carpten JD, Trent JM, Silverman RH & Witte JS 2002 RNASEL Arg462Gln variant is implicated in up to 13% of prostate cancer cases. Nature Genetics 4 581-583.
23. Chamberlain NL, Driver ED & Miesfeld RL 1994 The length and location of CAG trinucleotide repeats in the androgen receptor N-terminal domain affect transactivation function. Nucleic Acids Research 22 3181-3186.
24. Chang B, Zheng SL, Isaacs SD, Wiley KE, Carpten JD, Hawkins GA, Bleecker ER, Walsh PC, Trent JM, Meyers DA, Isaacs WB & Xu J 2001 Linkage and association of CYP17 gene in hereditary and sporadic prostate cancer. International Journal of Cancer 95 354-359.
25. Chang BL, Zheng SL, Hawkins GA, Isaacs SD, Wiley KE, Turner A, Carpten JD, Bleecker ER, Walsh PC, Trent JM, Meyers DA, Isaacs WB & Xu J 2002a Joint effect of HSD3B1 and HSD3B2 genes is associated with hereditary and sporadic prostate cancer susceptibility. Cancer Research 62 1784-1789.
26. Chang BL, Zheng SL, Hawkins GA, Isaacs SD, Wiley KE, Turner A, Carpten JD, Bleecker ER, Walsh PC, Trent JM, Meyers DA, Isaacs WB & Xu J 2002b Polymorphic GGC repeats in the androgen receptor gene are associated with hereditary and sporadic prostate cancer risk. Human Genetics 110 122-129.
27. Chen C, Lamharzi N, Weiss NS, Etzioni R, Dightman DA, Barnett M, DiTommaso D & Goodman G 2002 Androgen receptor polymorphisms and the incidence of prostate cancer. Cancer Epidemiology, Biomarkers and Prevention 11 1033-1040.
28. Coetzee GA & Ross RK 1994 Re: Prostate cancer and the androgen receptor. Journal of the National Cancer Institute 86 872-873.
29. Cooney KA, McCarthy JD, Lange E, Huang L, Miesfeldt S, Montie JE, Oesterling JE, Sandler HM & Lange K 1997 Prostate cancer susceptibility locus on chromosome 1q: a confirmatory study. Journal of the National Cancer Institute 89 955-959.
30. Correa-Cerro L, Wohr G, Haussler J, Berthon P, Drelon E, Mangin P, Fournier G, Cussenot O, Kraus P, Just W, Paiss T, Cantu JM & Vogel W 1999 (CAG)nCAA and GGN repeats in the human androgen receptor gene are not associated with prostate cancer in a French-German population. European Journal of Human Genetics 7 357-362.
31. Coughlin SS & Hall IJ 2002 A review of genetic polymorphisms and prostate cancer risk. Annals of Epidemiology 12 182-196.
32. Cui J, Staples MP, Hopper JL, English DR, McCredie MR & Giles GG 2001 Segregation analyses of 1476 population-based Australian families affected by prostate cancer. American Journal of Human Genetics 68 1207-1218.
33. Edwards SM, Badzioch MD, Minter R, Hamoudi R, Collins N, Ardern-Jones A, Dowe A, Osborne S, Kelly J, Shearer R et al. 1999 Androgen receptor polymorphisms: association with prostate cancer risk, relapse and overall survival. International Journal of Cancer 84 458-465.
34. Edwards SM, Kote-Jarai Z, Meitz J, Hamoudi R, Hope Q, Osin P, Jackson R, Southgate C, Singh R, Falconer A et al. 2003 Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene. American Journal of Human Genetics 72 1-12.
35. Eeles R 1999 The UK Familial Prostate Study Co-ordinating Group and The CRC/BPG UK Familial Prostate Study Collaborators. Prostate Cancer and Prostatic Diseases 2 9-15.
36. Eeles R, Cannon-Albright LA, Ponder SAJ, Easton DF & Horwich A 1996 Familial prostate cancer and its management. In Genetic Predisposition to Cancer, Eds RA Eeles and A Horwich pp 320-332. New York, USA: Chapman and Hall Medical.
37. Eeles RA, Durocher F, Edwards S, Teare D, Badzioch M, Hamoudi R, Gill S, Biggs P, Dearnaley D, Ardern-Jones A et al. 1998 Linkage analysis of chromosome 1q markers in 136 prostate cancer families. The Cancer Research Campaign/British Prostate Group UK Familial Prostate Cancer Study Collaborators. American Journal of Human Genetics 62 653-658.
38. Ekman P 1999 Genetic and environmental factors in prostate cancer genesis: identifying high-risk cohorts. European Urology 35 362-369.
39. El-Alfy M, Pelletier G, Hermo LS & Labrie F 2000 Unique features of the basal cells of human prostate epithelium. Microscope Research Techniques 51 436-446.
40. Ford D, Easton DF, Bishop DT, Narod SA & Goldgar DE 1994 Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet 343 692-695.
41. Gayther SA, de Foy KA, Harrington P, Pharoah P, Dunsmuir WD, Edwards SM, Gillett C, Ardern-Jones A, Dearnaley DP, Easton DF et al. 2000 The frequency of germ-line mutations in the breast cancer predisposition genes BRCA1 and BRCA2 in familial prostate cancer. The Cancer Research Campaign/British Prostate Group United Kingdom Familial Prostate Cancer Study Collaborators. Cancer Research 60 4513-4518.
42. Gibbs M, Chakrabarti L, Stanford JL, Goode EL, Kolb S, Schuster EF, Buckley VA, Shook M, Hood L, Jarvik GP & Ostrander EA 1999a Analysis of chromosome 1q42.2-43 in 152 families with high risk of prostate cancer. American Journal of Human Genetics 64 1087-1095.
43. Gibbs M, Stanford JL, Mclndoe RA, Jarvik GP, Kolb S, Goode EL, Chakrabarti L, Schuster EF, Buckley VA, Miller EL et al. 1999b Evidence for a rare prostate cancer-susceptibility locus at chromosome 1p36. American Journal of Human Genetics 64 776-787.
44. Gibbs M, Stanford JL, Jarvik GP, Janer M, Badzioch M, Peters MA, Goode EL, Kolb S, Chakrabarti L, Shook M et al. 2000 A genomic scan of families with prostate cancer identifies multiple regions of interest. American Journal of Human Genetics 67 100-109.
45. Giovannucci E, Stampfer MJ, Krithivas K, Brown M, Dahl D, Brufsky A, Talcott J, Hennekens CH & Kantoff PW 1997 The CAG repeat within the androgen receptor gene and its relationship to prostate cancer. PNAS 94 3320-3323.
46. Goddard KA, Witte JS, Suarez BK, Catalona WJ & Olson JM 2001 Model-free linkage analysis with covariates confirms linkage of prostate cancer to chromosomes 1 and 4. American Journal of Human Genetics 68 1197-1206.
47. Goode EL, Stanford JL, Chakrabarti L, Gibbs M, Kolb S, McIndoe RA, Buckley VA, Schuster EF, Neal CL, Miller EL et al. 2000 Linkage analysis of 150 high-risk prostate cancer families at 1q24-25. Genetic Epidemiology 18 251-275.
48. Goode EL, Stanford JL, Peters MA, Janer M, Gibbs M, Kolb S, Badzioch MD, Hood L, Ostrander E A & Jarvik GP 2001 Clinical characteristics of prostate cancer in an analysis of linkage to four putative susceptibility loci. Clinical Cancer Research 7 2739-2749.
49. Grönberg H, Isaacs SD, Smith JR, Carpten JD, Bova GS, Freije D, Xu J, Meyers DA, Collins FS, Trent JM, Walsh PC & Isaacs WB 1997 Characteristics of prostate cancer in families potentially linked to the hereditary prostate cancer 1 (HPC1) locus. Journal of the American Medical Association 278 1251-1255.
50. Grönberg H, Ahman AK, Emanuelsson M, Bergh A, Damber JE & Borg A 2001 BRCA2 mutation in a family with hereditary prostate cancer. Genes Chromosomes Cancer 30 299-301.
51. Grossmann ME, Huang H & Tindall DJ 2001 Androgen receptor signaling in androgen-refractory prostate cancer. Journal of the National Cancer Institute 93 1687-1697.
52. Gsur A, Bernhofer G, Hinteregger S, Haidinger G, Schatzl G, Madersbacher S, Marberger M, Vutuc C & Micksche M 2000 A polymorphism in the CYP17 gene is associated with prostate cancer risk. International Journal of Cancer 87 434-437.
53. Habuchi T, Liqing Z, Suzuki T, Sasaki R, Tsuchiya N, Tachiki H, Shimoda N, Satoh S, Sato K, Kakehi Y, Kamoto T, Ogawa O & Kato T 2000 Increased risk of prostate cancer and benign prostatic hyperplasia associated with a CYP17 gene polymorphism with a gene dosage effect. Cancer Research 60 5710-5713.
54. Hakimi JM, Schoenberg MP, Rondinelli RH, Piantadosi S & Barrack ER 1997 Androgen receptor variants with short glutamine or glycine repeats may identify unique subpopulations of men with prostate cancer. Clinical Cancer Research 3 1599-1608.
55. Henshall SM, Quinn DI, Lee CS, Head DR, Golovsky D, Brenner PC, Delprado W, Stricker PD, Grygiel JJ & Sutherland RL 2001 Altered expression of androgen receptor in the malignant epithelium and adjacent stroma is associated with early relapse in prostate cancer. Cancer Research 61 423-427.
56. Hsieh CL, Oakley-Girvan I, Gallagher RP, Wu AH, Kolonel LN, Teh CZ, Halpern J, West DW, Paffenbarger RS Jr & Whittemore AS 1997 Re: prostate cancer susceptibility locus on chromosome 1q: a confirmatory study. Journal of the National Cancer Institute 89 1893-1894.
57. Hsieh CL, Oakley-Girvan I, Balise RR, Halpern J, Gallagher RP, Wu AH, Kolonel LN, O'Brien LE, Lin IG, Van Den Berg DJ et al. 2001 A genome screen of families with multiple cases of prostate cancer: evidence of genetic heterogeneity. American Journal of Human Genetics 69 148-158.
58. Hsing AW, Gao YT, Wu G, Wang X, Deng J, Chen YL, Sesterhenn IA, Mostofi FK, Benichou J & Chang C 2000a Polymorphic CAG and GGN repeat lengths in the androgen receptor gene and prostate cancer risk: a population-based case-control study in China. Cancer Research 60 5111-5116.
59. Hsing AW, Tsao L & Devesa SS 2000b International trends and patterns of prostate cancer incidence and mortality. International Journal of Cancer 85 60-67.
60. Hsing AW, Chen C, Chokkalingam AP, Gao YT, Dightman DA, Nguyen HT, Deng J, Cheng J, Sesterhenn IA, Mostofi FK, Stanczyk FZ & Reichardt JK 2001 Polymorphic markers in the SRD5A2 gene and prostate cancer risk: a population-based case-control study. Cancer Epidemiology, Biomarkers and Prevention 10 1077-1082.
61. Hubert A, Peretz T, Manor O, Kaduri L, Wienberg N, Lerer I, Sagi M & Abeliovich D 1999 The Jewish Ashkenazi founder mutations in the BRCA1/BRCA2 genes are not found at an increased frequency in Ashkenazi patients with prostate cancer. American Journal of Human Genetics 65 921-924.
62. Ingles SA, Ross RK, Yu MC, Irvine RA, La Pera G, Haile RW & Coetzee GA 1997 Association of prostate cancer risk with genetic polymorphisms in vitamin D receptor and androgen receptor. Journal of the National Cancer Institute 89 166-170.
63. Irvine RA, Yu MC, Ross RK & Coetzee GA 1995 The CAG and GGC microsatellites of the androgen receptor gene are in linkage disequilibrium in men with prostate cancer. Cancer Research 55 1937-1940.
64. Irvine RA, Ma H, Yu MC, Ross RK, Stallcup MR & Coetzee GA 2000 Inhibition of p60-mediated coactivation with increasing androgen receptor polyglutamine length. Human Molecular Genetics 9 267-274.
65. Jaffe JM, Malkowicz SB, Walker AH, MacBride S, Peschel R, Tomaszewski J, Van Arsdalen K, Wein AJ & Rebbeck TR 2000 Association of SRD5A2 genotype and pathological characteristics of prostate tumors. Cancer Research 60 1626-1630.
66. Kazemi-Esfarjani P, Trifiro MA & Pinsky L 1995 Evidence for a repressive function of the long polyglutamine tract in the human androgen receptor: possible pathogenetic relevance for the (CAG)n-expanded neuronopathies. Human Molecular Genetics 4 523-527.
67. Korver W, Guevara C, Chen Y, Neuteboom S, Bookstein R, Tavtigian SV & Lees E 2003 The product of the candidate prostate cancer susceptibility gene ELAC2 interacts with the g-tubulin complex. International Journal of Cancer 104 283-288.
68. Labrie F 2003 Cancer of the prostate. In The UICC Manual of Clinical Oncology, 8th edition. Eds R Pollock, B O'Sullivan and A Nakao. Etobicoke Canada: John Wiley and Sons (In Press).
69. Labrie F, Belanger A, Luu-The V, Labrie C, Simard J, Cusan L, Gomez JL & Candas B 1998 DHEA and the intracrine formation of androgens and estrogens in peripheral target tissues: its role during aging. Steroids 63 322-328.
70. Lander E & Kruglyak L 1995 Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nature Genetics 11 241-247.
71. Lange EM, Chen H, Brierley K, Perrone EE, Bock CH, Gillanders E, Ray ME & Cooney KA 1999 Linkage analysis of 153 prostate cancer families over a 30-cM region containing the putative susceptibility locus HPCX. Clinical Cancer Research 5 4013-4020.
72. Lange EM, Chen H, Brierley K, Livermore H, Wojno KJ, Langefeld CD, Lange K & Cooney KA 2000 The polymorphic exon 1 androgen receptor CAG repeat in men with a potential inherited predisposition to prostate cancer. Cancer Epidemiology, Biomarkers and Prevention 9 439-442.
73. Latil AG, Azzouzi R, Cancel GS, Guillaume EC, Cochan-Priollet B, Berthon PL & Cussenot O 2001 Prostate carcinoma risk and allelic variants of genes involved in androgen biosynthesis and metabolism pathways. Cancer 92 1130-1137.
74. Lehrer S, Fodor F, Stock RG, Stone NN, Eng C, Song HK & McGovern M 1998 Absence of 185delAG mutation of the BRCA1 gene and 6174delT mutation of the BRCA2 gene in Ashkenazi Jewish men with prostate cancer. British Journal of Cancer 78 771-773.
75. Lichtenstein P, Holm NV, Verkasalo PK, Iliadou A, Kaprio J, Koskenvuo M, Pukkala E, Skytthe A & Hemminki K 2000 Environmental and heritable factors in the causation of cancer - analyses of cohorts of twins from Sweden, Denmark, and Finland. New England Journal of Medicine 343 78-85.
76. Lillienfeld AM & Lillienfeld DE 1980 Foundations of Epidemiology. New York: Oxford University Press.
77. Lin C & Miller WL 2001 The T/C allelic polymorphism at nucleotide + 27 of the human CYP17 gene is not associated with altered transcriptional activity. In The Endocrine Society's 83rd Annual Meeting, p P2-1. Denver, Colorado.
78. Linja MJ, Savinainen KJ, Saramaki OR, Tammela TL, Vessella RL & Visakorpi T 2001 Amplification and overexpression of androgen receptor gene in hormone-refractory prostate cancer. Cancer Research 61 3550-3555.
79. Lunn RM, Bell DA, Mohler JL & Taylor JA 1999 Prostate cancer risk and polymorphism in 17 hydroxylase (CYP17) and steroid reductase (SRD5A2). Carcinogenesis 20 1727-1731.
80. McIndoe RA, Stanford JL, Gibbs M, Jarvik GP, Brandzel S, Neal CL, Li S, Gammack JT, Gay AA, Goode EL, Hood L & Ostrander EA 1997 Linkage analysis of 49 high-risk families does not support a common familial prostate cancer-susceptibility gene at 1q24-25. American Journal of Human Genetics 61 347-353.
81. McNeal JE, Villers A, Redwine EA, Freiha FS & Stamey TA 1991 Microcarcinoma in the prostate: its association with duct-acinar dysplasia. Human Pathology 22 644-652.
82. Makridakis NM & Reichardt JK 2001 Molecular epidemiology of hormone-metabolic loci in prostate cancer. Epidemiology Reviews 23 24-29.
83. Makridakis N, Ross RK, Pike MC, Chang L, Stanczyk FZ, Kolonel LN, Shi CY, Yu MC, Henderson BE & Reichardt JK 1997 A prevalent missense substitution that modulates activity of prostatic steroid 5alpha-reductase. Cancer Research 57 1020-1022.
84. Makridakis NM, Ross RK, Pike MC, Crocitto LE, Kolonel LN, Pearce CL, Henderson BE & Reichardt JK 1999 Association of mis-sense substitution in SRD5A2 gene with prostate cancer in African-American and Hispanic men in Los Angeles, USA. Lancet 354 975-978.
85. Makridakis NM, di Salle E & Reichardt JK 2000 Biochemical and pharmacogenetic dissection of human steroid 5-alpha-reductase type II. Pharmacogenetics 10 407-413.
86. Margiotti K, Sangiuolo F, De Luca A, Froio F, Pearce CL, Ricci-Barbini V, Micali F, Bonafe M, Franceschi C, Dallapiccola B, Novelli G & Reichardt JK 2000 Evidence for an association between the SRD5A2 (type II steroid 5 alpha-reductase) locus and prostate cancer in Italian patients. Disease Markers 16 147-150.
87. Meitz JC, Edwards SM, Easton DF, Murkin A, Ardern-Jones A, Jackson RA, Williams S, Dearnaley DP, Stratton MR, Houlston RS & Eeles RA 2002 HPC2/ELAC2 polymorphisms and prostate cancer risk: analysis by age of onset of disease. British Journal of Cancer 87 905-908.
88. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W et al. 1994 A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266 66-71.
89. Miller EA, Stanford JL, Hsu L, Noonan E & Ostrander EA 2001 Polymorphic repeats in the androgen receptor gene in high-risk sibships. Prostate 48 200-205.
90. Mononen N, Ikonen T, Syrjakoski K, Matikainen M, Schleutker J, Tammela TL, Koivisto PA & Kallioniemi OP 2001 A missense substitution A49T in the steroid 5-alpha-reductase gene (SRD5A2) is not associated with prostate cancer in Finland. British Journal of Cancer 84 1344-1347.
91. Monroe KR, Yu MC, Kolonel LN, Coetzee GA, Wilkens LR, Ross RK & Henderson BE 1995 Evidence of an X-linked or recessive genetic component to prostate cancer risk. Nature Medicine 1 827-829.
92. Montgomery JS, Price DK & Figg WD 2001 The androgen receptor gene and its influence on the development and progression of prostate cancer. Journal of Pathology 195 138-146.
93. Morganti G, Gianferrari L, Cresseri A, Arrigoni G & Lovati G 1956 Recherches clinico-statistiques et génétiques sur les néoplasie de la prostate. Acta Genetica Statistica 6 304-305.
94. Morissette J, Durocher F, Leblanc JF, Normand T, Labrie F & Simard J 1996 Genetic linkage mapping of the human steroid 5 alpha-reductase type 2 gene (SRD5A2) close to D2S352 on chromosome region 2p23Ap22. Cytogenetics and Cell Genetics 73 304-307.
95. Narod SA, Dupont A, Cusan L, Diamond P, Gomez JL, Suburu R & Labrie F 1995 The impact of family history on early detection of prostate cancer. Nature Medicine 1 99-101.
96. Nastiuk KL, Mansukhani M, Terry MB, Kularatne P, Rubin MA, Melamed J, Gammon MD, Ittmann M & Krolewski JJ 1999 Common mutations in BRCA1 and BRCA2 do not contribute to early prostate cancer in Jewish men. Prostate 40 172-177.
97. Nedelcheva Kristensen V, Haraldsen EK, Anderson KB, Lonning PE, Erikstein B, Karesen R, Gabrielsen OS & Borresen-Dale AL 1999 CYP17 and breast cancer risk: the polymorphism in the 5′ flanking area of the gene does not influence binding to Sp-1. Cancer Research 59 2825-2828.
98. Neuhausen SL, Famham JM, Kort E, Tavtigian SV, Skolnick MH & Cannon-Albright LA 1999 Prostate cancer susceptibility locus HPCI in Utah high-risk pedigrees. Human Molecular Genetics 8 2437-2442.
99. Nwosu V, Carpten J, Trent JM & Sheridan R 2001 Heterogeneity of genetic alterations in prostate cancer: evidence of the complex nature of the disease. Human Molecular Genetics 10 2313-2318.
100. Ostrander EA & Stanford JL 2000 Genetics of prostate cancer: too many loci, too few genes. American Journal of Human Genetics 67 1367-1375.
101. Peters MA, Jarvik GP, Janer M, Chakrabarti L, Kolb S, Goode EL, Gibbs M, DuBois CC, Schuster EF, Hood L, Ostrander EA & Stanford JL 2001 Genetic linkage analysis of prostate cancer families to Xq27-28. Human Heredity 51 107-113.
102. Platz EA, Giovannucci E, Dahl DM, Krithivas K, Hennekens CH, Brown M, Stampfer MJ & Kantoff PW 1998 The androgen receptor gene GGN microsatellite and prostate cancer risk. Cancer Epidemiology, Biomarkers and Prevention 7 379-384.
103. Rebbeck TR, Walker AH, Zeigler-Johnson C, Weisburg S, Martin AM, Nathanson KL, Wein AJ & Malkowicz SB 2000 Association of HPC2/ELAC2 genotypes and prostate cancer. American Journal of Human Genetics 67 1014-1019.
104. Reichardt JK, Makridakis N, Henderson BE, Yu MC, Pike MC & Ross RK 1995 Genetic variability of the human SRD5A2 gene: implications for prostate cancer risk. Cancer Research 55 3973-3975.
105. Rennert H, Bercovich D, Hubert A, Abeliovich D, Rozovsky U, Bar-Shira A, Soloviov S, Schreiber L, Matzkin H, Rennert G et al. 2002 A novel founder mutation in the RNASEL gene, 471delAAAG, is associated with prostate cancer in Ashkenazi Jews. American Journal of Human Genetics 71 981-984.
106. Rokman A, Ikonen T, Mononen N, Autio V, Matikainen MP, Koivisto PA, Tammela TL, Kallioniemi OP & Schleutker J 2001 ELAC2/HPC2 involvement in hereditary and sporadic prostate cancer. Cancer Research 61 6038-6041.
107. Rokman A, Ikonen T, Seppala EH, Nupponen N, Autio V, Mononen N, Bailey-Wilson J, Trent J, Carpten J, Matikainen MP et al. 2002 Germline alterations of the RNASEL gene, a candidate HPC1 gene at 1q25, in patients and families with prostate cancer. American Journal of Human Genetics 70 1299-1304.
108. Ross RK, Bernstein L, Lobo RA, Shimizu H, Stanczyk FZ, Pike MC & Henderson BE 1992 5-Alpha-reductase activity and risk of prostate cancer among Japanese and US white and black males. Lancet 339 887-889.
109. Ross RK, Coetzee GA, Pearce CL, Reichardt JK, Bretsky P, Kolonel LN, Henderson BE, Lander E, Altshuler D & Daley G 1999 Androgen metabolism and prostate cancer: establishing a model of genetic susceptibility. European Urology 35 355-361.
110. Schaid DJ, McDonnell SK, Blute ML & Thibodeau SN 1998 Evidence for autosomal dominant inheritance of prostate cancer. American Journal of Human Genetics 62 1425-1438.
111. Schaid DJ, McDonnell SK & Thibodeau SN 2001 Regression models for linkage heterogeneity applied to familial prostate cancer. American Journal of Human Genetics 68 1189-1196.
112. Schiffer S, Rosch S & Marchfelder A 2002 Assigning a function to a conserved group of proteins: the tRNA 3′-processing enzymes. EMBO Journal 21 2769-2777.
113. Schleutker J, Matikainen M, Smith J, Koivisto P, Baffoe-Bonnie A, Kainu T, Gillanders E, Sankila R, Pukkala E, Carpten J et al. 2000 A genetic epidemiological study of hereditary prostate cancer (HPC) in Finland: frequent HPCX linkage in families with late-onset disease. Clinical Cancer Research 6 4810-4815.
114. Shea PR, Ferrell RE, Patrick AL, Kuller LH & Bunker CH 2002 ELAC2 and prostate cancer risk in Afro-Caribbeans of Tobago. Human Genetics 111 398-400.
115. Sigurdsson S, Thorlacius S, Tomasson J, Tryggvadottir L, Benediktsdottir K, Eyfjord JE & Jonsson E 1997 BRCA2 mutation in Icelandic prostate cancer patients. Journal of Molecular Medicine 75 758-761.
116. Simard J, Dumont M, Soucy P & Labrie F 2002a Perspective: prostate cancer susceptibility genes. Endocrinology 143 2029-2040.
117. Simard J, Moisan AM & Morel Y 2002b Congenital adrenal hyperplasia due to 3beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase deficiency. Seminars in Reproductive Medicine 20 255-276.
118. Sinclair CS, Berry R, Schaid D, Thibodeau SN & Couch FJ 2000 BRCA1 and BRCA2 have a limited role in familial prostate cancer. Cancer Research 60 1371-1375.
119. Singh RER, Durocher F, Simard J, Edwards S, Badzioch M, Kote-Jarai Z, Teare D, Ford D, Dearnaley D, Ardem-Jones A, Murkin A, Dowe A, Shearer R, Kelly J, The CRC/BPG UK Familial Prostate Cancer Study Collaborators, Labrie F, Easton D, Narod SA, Tonin PN & Foulkes WD 2000 High risk genes predisposing to prostate cancer - do they exist? Prostate Cancer and Prostatic Diseases 3 241-247.
120. Slager SL, Schaid DJ, Cunningham, JM, McDonnell SK, French A, Peterson BJ, Marks AF, Hebbring S, Koch B, Anderson S & Thibodeau SN 2002 Linkage analysis on prostate cancer agressiveness. American Journal of Human Genetics 71 (Suppl) S247.
121. Smith JR, Freije D, Carpten JD, Grönberg H, Xu J, Isaacs SD, Brownstein MJ, Bova GS, Guo H, Bujnovszky P et al. 1996 Major susceptibility locus for prostate cancer on chromosome 1 suggested by a genome-wide search. Science 274 1371-1374.
122. Stanford JL, Just JJ, Gibbs M, Wicklund KG, Neal CL, Blumenstein BA & Ostrander EA 1997 Polymorphic repeats in the androgen receptor gene: molecular markers of prostate cancer risk. Cancer Research 57 1194-1198.
123. Steinberg GD, Carter BS, Beaty TH, Childs B & Walsh PC 1990 Family history and the risk of prostate cancer. Prostate 17 337-347.
124. Suarez BK, Lin J, Burmester JK, Broman KW, Weber JL, Banerjee TK, Goddard KA, Witte JS, Elston RC & Catalona WJ 2000a A genome screen of multiplex sibships with prostate cancer. American Journal of Human Genetics 66 933-944.
125. Suarez BK, Lin J, Witte JS, Conti DV, Resnick MI, Klein EA, Burmester JK, Vaske DA, Banerjee TK & Catalona WJ 2000b Replication linkage study for prostate cancer susceptibility genes. Prostate 45 106-114.
126. Suarez BK, Gerhard DS, Lin J, Haberer B, Nguyen L, Kesterson NK & Catalona WJ 2001 Polymorphisms in the prostate cancer susceptibility gene HPC2/ELAC2 in multiplex families and healthy controls. Cancer Research 61 4982-4984.
127. Tavtigian SV, Simard J, Teng DH, Abtin V, Baumgard M, Beck A, Camp NJ, Carillo AR, Chen Y, Dayananth P et al. 2001 A candidate prostate cancer susceptibility gene at chromosome 17p. Nature Genetics 27 172-180.
128. The Breast Cancer Linkage Consortium 1999 Cancer risks in BRCA2 mutation carriers. The Breast Cancer Linkage Consortium. Journal of the National Cancer Institute 91 1310-1316.
129. Thompson D & Easton D 2001 Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. American Journal of Human Genetics 68 410-419.
130. Thorlacius S, Olafsdottir G, Tryggyadottir L, Neuhausen S, Jonasson JG, Tavtigian SV, Tulinius H, Ogmundsdottir HM & Eyfjord JE 1996 A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes. Nature Genetics 13 117-119.
131. Thorlacius S, Struewing JP, Hartge P, Olafsdottir GH, Sigvaldason H, Tryggvadottir L, Wacholder S, Tulinius H & Eyfjord JE 1998 Population-based study of risk of breast cancer in carriers of BRCA2 mutation. Lancet 352 1337-1339.
132. Tulinius H, Egilsson V, Olafsdottir GH & Sigvaldason H 1992 Risk of prostate, ovarian, and endometrial cancer among relatives of women with breast cancer. British Medical Journal 305 855-857.
133. U M, Miyashita T, Ohtsuka Y, Okamura-Oho Y, Shikama Y & Yamada M 2001 Extended polyglutamine selectively interacts with caspase-8 and - 10 in nuclear aggregates. Cell Death and Differentiation 8 377-386.
134. van't Veer LJ, Dai H, van de Vijver MJ, He YD, Hart AA, Mao M, Peterse HL, van der Kooy K, Marton MJ, Witteveen AT et al. 2002 Gene expression profiling predicts clinical outcome of breast cancer. Nature 415 530-536.
135. Vesprini D, Nam RK, Trachtenberg J, Jewett MA, Tavtigian SV, Emami M, Ho M, Toi A & Narod SA 2001 HPC2 variants and screen-detected prostate cancer. American Journal of Human Genetics 68 912-917.
136. Vogel A, Schilling O, Niecke M, Bettmer J & Meyer-Klaucke W 2002 ElaC encodes a novel binuclear zinc phosphodiesterase. Journal of Biological Chemistry 277 29078-29085.
137. Wadelius M, Andersson AO, Johansson JE, Wadelius C & Rane E 1999 Prostate cancer associated with CYP17 genotype. Pharmacogenetics 9 635-639.
138. Wang L, McDonnell SK, Elkins DA, Slager SL, Christensen E, Marks AF, Cunningham JM, Peterson BJ, Jacobsen SJ, Cerhan JR, Blute ML, Schaid DJ & Thibodeau SN 2001 Role of HPC2/ELAC2 in hereditary prostate cancer. Cancer Research 61 6494-6499.
139. Wang L, McDonnell SK, Elkins DA, Slager SL, Christensen E, Marks AF, Cunningham JM, Peterson BJ, Jacobsen SJ, Cerhan JR, Blute ML, Schaid DJ &
140. Whittemore AS, Lin IG, Oakley-Girvan I, Gallagher RP, Halpern J, Kolonel LN, Wu AH & Hsieh CL 1999 No evidence of linkage for chromosome 1q42.2-43 in prostate cancer. American Journal of Human Genetics 65 254-256.
141. Wilkens EP, Freije D, Xu J, Nusskern DR, Suzuki H, Isaacs SD, Wiley K, Bujnovsky P, Meyers DA, Walsh PC & Isaacs WB 1999 No evidence for a role of BRCA1 or BRCA2 mutations in Ashkenazi Jewish families with hereditary prostate cancer. Prostate 39 280-284.
142. Witte JS, Goddard KA, Conti DV, Elston RC, Lin J, Suarez BK, Broman KW, Burmester JK, Weber JL & Catalona WJ 2000 Genomewide scan for prostate cancer-aggressiveness loci. American Journal of Human Genetics 67 92-99.
143. Wooster R, Neuhausen SL, Mangion J, Quirk Y, Ford D, Collins N, Nguyen K, Seal S, Tran T, Averill D et al. 1994 Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science 265 2088-2090.
144. Xu J 2000 Combined analysis of hereditary prostate cancer linkage to 1q24-25: results from 772 hereditary prostate cancer families from the International Consortium for Prostate Cancer Genetics. American Journal of Human Genetics 66 945-957.
145. Xu J, Meyers D, Freije D, Isaacs S, Wiley K, Nusskern D, Ewing C, Wilkens E, Bujnovszky P, Bova GS et al. 1998 Evidence for a prostate cancer susceptibility locus on the X chromosome. Nature Genetics 20 175-179.
146. Xu J, Zheng SL, Carpten JD, Nupponen NN, Robbins CM, Mestre J, Moses TY, Faith DA, Kelly BD, Isaacs SD et al. 2001a Evaluation of linkage and association of HPC2/ELAC2 in patients with familial or sporadic prostate cancer. American Journal of Human Genetics 68 901-911.
147. Xu J, Zheng SL, Chang B, Smith JR, Carpten JD, Stine OC, Isaacs SD, Wiley KE, Henning L, Ewing C et al. 2001b Linkage of prostate cancer susceptibility loci to chromosome 1. Human Genetics 108 335-345.
148. Xu J, Zheng SL, Hawkins GA, Faith DA, Kelly B, Isaacs SD, Wiley KE, Chang B, Ewing CM, Bujnovszky P et al. 2001c Linkage and association studies of prostate cancer susceptibility: evidence for linkage at 8p22-23. American Journal of Human Genetics 69 341-350.
149. Xu J, Zheng SL, Komiya A, Mychaleckyj JC, Isaacs SD, Hu JJ, Sterling D, Lange EM, Hawkins GA, Turner A et al. 2002 Germline mutations and sequence variants of the macrophage scavenger receptor 1 gene are associated with prostate cancer risk. Nature Genetics 32 321-325.
150. Xu J, Zheng SL, Komiya A, Mychaleckyj JC, Isaacs SD, Chang B, Turner AR, Ewing CM, Wiley KE, Hawkins GA et al. 2003 Common sequence variants of the macrophage scavenger receptor 1 gene are associated with prostate cancer risk. American Journal of Human Genetics 72 208-212.
151. Xue W, Irvine RA, Yu MC, Ross RK, Coetzee GA & Ingles SA 2000 Susceptibility to prostate cancer: interaction between genotypes at the androgen receptor and prostate-specific antigen loci. Cancer Research 60 839-841.
152. Yamada Y, Watanabe M, Murata M, Yamanaka M, Kubota Y, Ito H, Katoh T, Kawamura J, Yatani R & Shiraishi T 2001 Impact of genetic polymorphisms of 17-hydroxylase cytochrome P-450 (CYP17) and steroid 5alpha-reductase type II (SRD5A2) genes on prostate cancer risk among the Japanese population. International Journal of Cancer 92 683-686.
153. Zheng SL, Xu J, Isaacs SD, Wiley K, Chang B, Bleecker ER, Walsh PC, Trent JM, Meyers DA & Isaacs WB 2001 Evidence for a prostate cancer linkage to chromosome 20 in 159 hereditary prostate cancer families. Human Genetics 108 430-435.