Genetics of prostate cancer risk

Mount Sinai Journal of Medicine

Volumn 77, Issue 6, 2010, Pages 643-654

  Pomerantz, Mark M ^a   Freedman, Matthew L ^a  

^a DANA FARBER CANCER INSTITUTE   (United States)

Author keywords

family history; genetic markers; human genome; linkage analysis; prostate cancer

Indexed keywords

CANCER MORTALITY; CANCER RISK; CHROMOSOME 8Q; FAMILIAL CANCER; FAMILY HISTORY; GENE LOCUS; GENETIC ASSOCIATION; GENETIC MARKER; GENETIC RISK; GENETIC VARIABILITY; HAPLOTYPE MAP; HUMAN; LINKAGE ANALYSIS; PROSTATE CANCER; PROSTATE CARCINOMA; RELATIVE; REVIEW; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM;

GENETIC DISEASES, INBORN; GENETIC LINKAGE; GENETIC PREDISPOSITION TO DISEASE; GENOME, HUMAN; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MALE; MASSACHUSETTS; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; PROSTATIC NEOPLASMS; RISK ASSESSMENT;

EID: 78649680825     PISSN: 00272507     EISSN: 19317581     Source Type: Journal    
DOI: 10.1002/msj.20222     Document Type: Review

References (103)

1. Jemal A, Siegel R, Xu J, et al., Cancer statistics, 2010. CA Cancer J Clin 2010; 60: 277-300.
2. Jemal A, Center MM, DeSantis C, et al., Global patterns of cancer incidence and mortality rates and trends. Cancer Epidemiol Biomarkers Prev 2010; 19: 1893-1907.
3. Sakr WA, Grignon DJ, Haas GP, et al., Age and racial distribution of prostatic intraepithelial neoplasia. Eur Urol 1996; 30: 138-144.
4. Taichman RS, Loberg RD, Mehra R, et al., The evolving biology and treatment of prostate cancer. J Clin Invest 2007; 117: 2351-2361.
5. Steinberg GD, Carter BS, Beaty TH, et al., Family history and the risk of prostate cancer. Prostate 1990; 17: 337-347.
6. Spitz MR, Currier RD, Fueger JJ, et al., Familial patterns of prostate cancer: a case-control analysis. J Urol 1991; 146: 1305-1307.
7. Goldgar DE, Easton DF, Cannon-Albright LA, et al., Systematic population-based assessment of cancer risk in first-degree relatives of cancer probands. J Natl Cancer Inst 1994; 86: 1600-1608.
8. Aprikian AG, Bazinet M, Plante M, et al., Family history and the risk of prostatic carcinoma in a high risk group of urological patients. J Urol 1995; 154 (2 part 1): 404-406.
9. Hayes RB, Liff JM, Pottern LM, et al., Prostate cancer risk in U.S. blacks and whites with a family history of cancer. Int J Cancer 1995; 60: 361-364.
10. Isaacs SD, Kiemeney LA, Baffoe-Bonnie A, et al., Risk of cancer in relatives of prostate cancer probands. J Natl Cancer Inst 1995; 87: 991-996.
11. Narod SA, Dupont A, Cusan L, et al., The impact of family history on early detection of prostate cancer. Nat Med 1995; 1: 99-101.
12. Grönberg H, Damber L, Damber JE., Familial prostate cancer in Sweden: a nationwide register cohort study. Cancer 1996; 77: 138-143.
13. Lesko SM, Rosenberg L, Shapiro S., Family history and prostate cancer risk. Am J Epidemiol 1996; 144: 1041-1047.
14. Ghadirian P, Howe GR, Hislop TG, et al., Family history of prostate cancer: a multi-center case-control study in Canada. Int J Cancer 1997; 70: 679-681.
15. Rodríguez C, Calle EE, Miracle-McMahill HL, et al., Family history and risk of fatal prostate cancer. Epidemiology 1997; 8: 653-657.
16. Schuurman AG, Zeegers MP, Goldbohm RA, et al., A case-cohort study on prostate cancer risk in relation to family history of prostate cancer. Epidemiology 1999; 10: 192-195.
17. Cerhan JR, Parker AS, Putnam SD, et al., Family history and prostate cancer risk in a population-based cohort of Iowa men. Cancer Epidemiol Biomarkers Prev 1999; 8: 53-60.
18. Hemminki K, Czene K., Age specific and attributable risks of familial prostate carcinoma from the family-cancer database. Cancer 2002; 95: 1346-1353.
19. Valeri A, Cormier L, Moineau MP, et al., Targeted screening for prostate cancer in high risk families: early onset is a significant risk factor for disease in first degree relatives. J Urol 2002; 168: 483-487.
20. Bruner DW, Moore D, Parlanti A, et al., Relative risk of prostate cancer for men with affected relatives: systematic review and meta-analysis. Int J Cancer 2003; 107: 797-803.
21. Hemminki K, Sundquist J, Bermejo JL., How common is familial cancer? Ann Oncol 2008; 19: 163-167.
22. Zeegers MP, Jellema A, Ostrer H., Empiric risk of prostate carcinoma for relatives of patients with prostate carcinoma: a meta-analysis. Cancer 2003; 97: 1894-1903.
23. Chen YC, Page JH, Chen R, et al., Family history of prostate and breast cancer and the risk of prostate cancer in the PSA era. Prostate 2008; 68: 1582-1591.
24. Page WF, Braun MM, Partin AW, et al., Heredity and prostate cancer: a study of World War II veteran twins. Prostate 1997; 33: 240-245.
25. Lichtenstein P, Holm NV, Verkasalo PK, et al., Environmental and heritable factors in the causation of cancer-analyses of cohorts of twins from Sweden, Denmark, and Finland. N Engl J Med 2000; 343: 78-85.
26. Carter BS, Bova GS, Beaty TH, et al., Hereditary prostate cancer: epidemiologic and clinical features. J Urol 1993; 150: 797-802.
27. Carter BS, Beaty TH, Steinberg GD, et al., Mendelian inheritance of familial prostate cancer. Proc Natl Acad Sci U S A 1992; 89: 3367-3371.
28. Grönberg H, Damber L, Damber JE, et al., Segregation analysis of prostate cancer in Sweden: support for dominant inheritance. Am J Epidemiol 1997; 146: 552-557.
29. Schaid DJ, McDonnell SK, Blute ML, et al., Evidence for autosomal dominant inheritance of prostate cancer. Am J Hum Genet 1998; 62: 1425-1438.
30. Pakkanen S, Baffoe-Bonnie AB, Matikainen MP, et al., Segregation analysis of 1,546 prostate cancer families in Finland shows recessive inheritance. Hum Genet 2007; 121: 257-267.
31. Monroe KR, Yu MC, Kolonel LN, et al., Evidence of an X-linked or recessive genetic component to prostate cancer risk. Nat Med 1995; 1: 827-829.
32. MacInnis RJ, Antoniou AC, Eeles RA, et al., Prostate cancer segregation analyses using 4390 families from UK and Australian population-based studies. Genet Epidemiol 2010; 34: 42-50.
33. Smith JR, Freije D, Carpten JD, et al., Major susceptibility locus for prostate cancer on chromosome 1 suggested by a genome-wide search. Science 1996; 274: 1371-1374.
34. Grönberg H, Xu J, Smith JR, et al., Early age at diagnosis in families providing evidence of linkage to the hereditary prostate cancer locus (HPC1) on chromosome 1. Cancer Res 1997; 57: 4707-4709.
35. Carpten J, Nupponen N, Isaacs S, et al., Germline mutations in the ribonuclease L gene in families showing linkage with HPC1. Nat Genet 2002; 30: 181-184.
36. Casey G, Neville PJ, Plummer SJ, et al., RNASEL Arg462Gln variant is implicated in up to 13% of prostate cancer cases. Nat Genet 2002; 32: 581-583.
37. Eeles RA, Durocher F, Edwards S, et al,. The Cancer Research Campaign/British Prostate Group U.K. Familial Prostate Cancer Study Collaborators. Linkage analysis of chromosome 1q markers in 136 prostate cancer families. Am J Hum Genet 1998; 62: 653-658.
38. Berry R, Schaid DJ, Smith JR, et al., Linkage analyses at the chromosome 1 loci 1q24-25 (HPC1), 1q42.2-43 (PCAP), and 1p36 (CAPB) in families with hereditary prostate cancer. Am J Hum Genet 2000; 66: 539-546.
39. Xu J., 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 [published correction appears in Am J Hum Genet 2000; 67: 541-542. Am J Hum Genet 2000; 66: 945-957.
40. Li H, Tai BC., RNASEL gene polymorphisms and the risk of prostate cancer: a meta-analysis. Clin Cancer Res 2006; 12: 5713-5719.
41. Cunningham JM, McDonnell SK, Marks A, et al., Genome linkage screen for prostate cancer susceptibility loci: results from the Mayo Clinic Familial Prostate Cancer Study. Prostate 2003; 57: 335-346.
42. Janer M, Friedrichsen DM, Stanford JL, et al., Genomic scan of 254 hereditary prostate cancer families. Prostate 2003; 57: 309-319.
43. Chang BL, Isaacs SD, Wiley KE, et al., Genome-wide screen for prostate cancer susceptibility genes in men with clinically significant disease. Prostate 2005; 64: 356-361.
44. Stanford JL, McDonnell SK, Friedrichsen DM, et al., Prostate cancer and genetic susceptibility: a genome scan incorporating disease aggressiveness. Prostate 2006; 66: 317-325.
45. Camp NJ, Farnham JM, Cannon-Albright LA., Localization of a prostate cancer predisposition gene to an 880-kb region on chromosome 22q12.3 in Utah high-risk pedigrees. Cancer Res 2006; 66: 10205-10212.
46. Johanneson B, McDonnell SK, Karyadi DM, et al., Family-based association analysis of 42 hereditary prostate cancer families identifies the Apolipoprotein L3 region on chromosome 22q12 as a risk locus. Hum Mol Genet 2010; 19: 3852-3862.
47. Berthon P, Valeri A, Cohen-Akenine A, et al., Predisposing gene for early-onset prostate cancer, localized on chromosome 1q42.2-43. Am J Hum Genet 1998; 62: 1416-1424.
48. Xu J, Meyers D, Freije D, et al., Evidence for a prostate cancer susceptibility locus on the X chromosome. Nat Genet 1998; 20: 175-179.
49. Gibbs M, Stanford JL, McIndoe RA, et al., Evidence for a rare prostate cancer-susceptibility locus at chromosome 1p36. Am J Hum Genet 1999; 64: 776-787.
50. Stanford JL, FitzGerald LM, McDonnell SK, et al., Dense genome-wide SNP linkage scan in 301 hereditary prostate cancer families identifies multiple regions with suggestive evidence for linkage. Hum Mol Genet 2009; 18: 1839-1848.
51. Berry R, Schroeder JJ, French AJ, et al., Evidence for a prostate cancer-susceptibility locus on chromosome 20. Am J Hum Genet 2000; 67: 82-91.
52. Lange EM, Beebe-Dimmer JL, Ray AM, et al., Genome-wide linkage scan for prostate cancer susceptibility from the University of Michigan Prostate Cancer Genetics Project: suggestive evidence for linkage at 16q23. Prostate 2009; 69: 385-391.
53. Welcsh PL, King MC., BRCA1 and BRCA2 and the genetics of breast and ovarian cancer. Hum Mol Genet 2001; 10: 705-713.
54. Rustgi AK., The genetics of hereditary colon cancer. Genes Dev 2007; 21: 2525-2538.
55. Bova GS, Partin AW, Isaacs SD, et al., Biological aggressiveness of hereditary prostate cancer: long-term evaluation following radical prostatectomy. J Urol 1998; 160: 660-663.
56. Grönberg H, Damber L, Tavelin B, et al., No difference in survival between sporadic, familial and hereditary prostate cancer. Br J Urol 1998; 82: 564-567.
57. Roehl KA, Loeb S, Antenor JA, et al., Characteristics of patients with familial versus sporadic prostate cancer. J Urol 2006; 176: 2438-2442.
58. The International HapMap Consortium. The International HapMap Project. Nature 2003; 426: 789-796.
59. Sherry ST, Ward MH, Kholodov M, et al., dbSNP: the NCBI database of genetic variation. Nucleic Acids Res 2001; 29: 308-311.
60. Sayers EW, Barrett T, Benson DA, et al., Database resources of the National Center for Biotechnology Information. Nucleic Acids Res 2010; 38: D5-D16.
61. Kruglyak L., The road to genome-wide association studies. Nat Rev Genet 2008; 9: 314-318.
62. Wang WY, Barratt BJ, Clayton DG, et al., Genome-wide association studies: theoretical and practical concerns. Nat Rev Genet 2005; 6: 109-118.
63. Amundadottir LT, Sulem P, Gudmundsson J, et al., A common variant associated with prostate cancer in European and African populations. Nat Genet 2006; 38: 652-658.
64. Freedman ML, Haiman CA, Patterson N, et al., Admixture mapping identifies 8q24 as a prostate cancer risk locus in African-American men. Proc Natl Acad Sci U S A 2006; 103: 14068-14073.
65. Gudmundsson J, Sulem P, Manolescu A, et al., Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. Nat Genet 2007; 39: 631-637.
66. Gudmundsson J, Sulem P, Steinthorsdottir V, et al., Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes. Nat Genet 2007; 39: 977-983.
67. Haiman CA, Patterson N, Freedman ML, et al., Multiple regions within 8q24 independently affect risk for prostate cancer. Nat Genet 2007; 39: 638-644.
68. Yeager M, Orr N, Hayes RB, et al., Genome-wide association study of prostate cancer identifies a second risk locus at 8q24. Nat Genet 2007; 39: 645-649.
69. Eeles RA, Kote-Jarai Z, Giles GG, et al., Multiple newly identified loci associated with prostate cancer susceptibility. Nat Genet 2008; 40: 316-321.
70. Thomas G, Jacobs KB, Yeager M, et al., Multiple loci identified in a genome-wide association study of prostate cancer. Nat Genet 2008; 40: 310-315.
71. Gudmundsson J, Sulem P, Rafnar T, et al., Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer. Nat Genet 2008; 40: 281-283. (Pubitemid 351311771)
72. Yeager M, Chatterjee N, Ciampa J, et al., Identification of a new prostate cancer susceptibility locus on chromosome 8q24. Nat Genet 2009; 41: 1055-1057.
73. Al Olama AA, Kote-Jarai Z, Giles GG, et al., Multiple loci on 8q24 associated with prostate cancer susceptibility. Nat Genet 2009; 41: 1058-1060.
74. Eeles RA, Kote-Jarai Z, Al Olama AA, et al., Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. Nat Genet 2009; 41: 1116-1121.
75. Gudmundsson J, Sulem P, Gudbjartsson DF, et al., Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility. Nat Genet 2009; 41: 1122-1126.
76. Sun J, Zheng SL, Wiklund F, et al., Evidence for two independent prostate cancer risk-associated loci in the HNF1B gene at 17q12. Nat Genet 2008; 40: 1153-1155.
77. Schumacher FR, Feigelson HS, Cox DG, et al., A common 8q24 variant in prostate and breast cancer from a large nested case-control study. Cancer Res 2007; 67: 2951-2956.
78. Severi G, Hayes VM, Padilla EJ, et al., The common variant rs1447295 on chromosome 8q24 and prostate cancer risk: results from an Australian population-based case-control study. Cancer Epidemiol Biomarkers Prev 2007; 16: 610-612.
79. Suuriniemi M, Agalliu I, Schaid DJ, et al., Confirmation of a positive association between prostate cancer risk and a locus at chromosome 8q24. Cancer Epidemiol Biomarkers Prev 2007; 16: 809-814.
80. Easton DF, Pooley KA, Dunning AM, et al., Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 2007; 447: 1087-1093.
81. Tomlinson I, Webb E, Carvajal-Carmona L, et al., A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21. Nat Genet 2007; 39: 984-988.
82. Zanke BW, Greenwood CM, Rangrej J, et al., Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24. Nat Genet 2007; 39: 989-994.
83. Kiemeney LA, Thorlacius S, Sulem P, et al., Sequence variant on 8q24 confers susceptibility to urinary bladder cancer. Nat Genet 2008; 40: 1307-1312.
84. Crowther-Swanepoel D, Broderick P, Di Bernardo MC, et al., Common variants at 2q37.3, 8q24.21, 15q21.3 and 16q24.1 influence chronic lymphocytic leukemia risk. Nat Genet 2010; 42: 132-136.
85. Jia L, Landan G, Pomerantz M, et al., Functional enhancers at the gene-poor 8q24 cancer-linked locus. PLoS Genet 2009; 5: e1000597.
86. Pomerantz MM, Beckwith CA, Regan MM, et al., Evaluation of the 8q24 prostate cancer risk locus and MYC expression. Cancer Res 2009; 69: 5568-5574.
87. Ahmadiyeh N, Pomerantz MM, Grisanzio C, et al., 8q24 prostate, breast, and colon cancer risk loci show tissue-specific long-range interaction with MYC. Proc Natl Acad Sci U S A 2010; 107: 9742-9746.
88. Zheng SL, Sun J, Wiklund F, et al., Cumulative association of five genetic variants with prostate cancer. N Engl J Med 2008; 358: 910-919.
89. Zheng SL, Sun J, Wiklund F, et al., Genetic variants and family history predict prostate cancer similar to prostate-specific antigen. Clin Cancer Res 2009; 15: 1105-1111.
90. Janssens AC, Gwinn M, Bradley LA, et al., A critical appraisal of the scientific basis of commercial genomic profiles used to assess health risks and personalize health interventions. Am J Hum Genet 2008; 82: 593-599.
91. Thompson IM, Goodman PJ, Tangen CM, et al., The influence of finasteride on the development of prostate cancer. N Engl J Med 2003; 349: 215-224.
92. Hemminki K, Ji J, Forsti A, et al., Concordance of survival in family members with prostate cancer. J Clin Oncol 2008; 26: 1705-1709.
93. Penney KL, Salinas CA, Pomerantz M, et al., Evaluation of 8q24 and 17q risk loci and prostate cancer mortality. Clin Cancer Res 2009; 15: 3223-3230.
94. Salinas CA, Koopmeiners JS, Kwon EM, et al., Clinical utility of five genetic variants for predicting prostate cancer risk and mortality. Prostate 2009; 69: 363-372.
95. Wiklund FE, Adami HO, Zheng SL, et al., Established prostate cancer susceptibility variants are not associated with disease outcome. Cancer Epidemiol Biomarkers Prev 2009; 18: 1659-1662.
96. Gallagher DJ, Vijai J, Cronin AM, et al., Susceptibility loci associated with prostate cancer progression and mortality. Clin Cancer Res 2010; 16: 2819-2832.
97. Kader AK, Sun J, Isaacs SD, et al., Individual and cumulative effect of prostate cancer risk-associated variants on clinicopathologic variables in 5,895 prostate cancer patients. Prostate 2009; 69: 1195-1205.
98. Xu J, Isaacs SD, Sun J, et al., Association of prostate cancer risk variants with clinicopathologic characteristics of the disease. Clin Cancer Res 2008; 14: 5819-5824.
99. Ahn J, Berndt SI, Wacholder S, et al., Variation in KLK genes, prostate-specific antigen and risk of prostate cancer. Nat Genet 2008; 40: 1032-1036.
100. Cramer SD, Chang BL, Rao A, et al., Association between genetic polymorphisms in the prostate-specific antigen gene promoter and serum prostate-specific antigen levels. J Natl Cancer Inst 2003; 95: 1044-1053.
101. Lai J, Kedda MA, Hinze K, et al., PSA/KLK3 AREI promoter polymorphism alters androgen receptor binding and is associated with prostate cancer susceptibility. Carcinogenesis 2007; 28: 1032-1039.
102. Severi G, Hayes VM, Neufing P, et al., Variants in the prostate-specific antigen (PSA) gene and prostate cancer risk, survival, and circulating PSA. Cancer Epidemiol Biomarkers Prev 2006; 15: 1142-1147.
103. Pal P, Xi H, Sun G, et al., Tagging SNPs in the kallikrein genes 3 and 2 on 19q13 and their associations with prostate cancer in men of European origin. Hum Genet 2007; 122: 251-259.