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Vol. 60, Suppl. 2, 1998
Issue release date: April 1998

Hereditary Prostate Cancer and Other Genetic Predispositions to Prostate Cancer

Cussenot O. · Valeri A. · Berthon P. · Fournier G. · Mangin P.
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The incidence of prostate cancer (CaP) and its increase in the last 10 years vary both from country to country and according to the ethnic group, with the highest incidence reported for Afro-Americans and the lowest for Asian men. To date, only three risk factors have been established for CaP: age; familial aggregation of CaP, and ethnic origins. No dietary or environment-related cause has been established. However, some variations in endogenous genetic factors may help explain differences in risk among ethnic groups or geographic areas. Similarly, certain genetic polymorphisms of genes encoding for 5α-reductase, androgen receptor or vitamin D, have been associated with different levels of CaP risk, and could explain the variations observed between populations. Different studies support the view that familial CaP may truly be hereditary, and not due to a similar lifestyle. Thus, familial inheritance is a parameter that needs to be considered in recommending screening for high-risk families. Indeed, when 1, 2, and 3 first-degree relatives are affected, the relative risk of first-degree relatives of CaP patients may increase to 2, 5, and 11%, respectively. Some familial forms appear to be associated with transmission of a rare putative dominant gene with a high penetrance (88% at age 85), with the cumulative proportion of CaP attributable to this gene being more marked for younger patients (a 43 versus a 34% risk of CaP appearing before the age of 55 versus 70 years). Using this transmission model and linkage analysis, a predisposing locus on chromosome 1q24–25 (HPC–1) has been described. Moreover, recessive and X-linked transmission has been suggested, showing that a large proportion of familial CaP may not be due to segregation of a few major gene mutations, but rather to familial sharing of alleles at many loci, each contributing to a small increase in cancer risk. Candidate genes may be the same suppressor genes that are involved in other cancers and in sporadic CaP.

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  1. Pisani P, Parkin DM, Ferlay J: Estimates of the world wide mortality from eighteen major cancers in 1985. Implication for prevention and projections of future burden. Int J Cancer 1993;55:891–893.
  2. Berthaut I, Mestayer C, Portois MC, Cussenot O, Mowszowicz I: Pharmacological and molecular evidence for the expression of the two steroid 5α reductase isozymes in normal and hyperplastic human prostatic cells in culture. Prostate 1997;32:155–163.
  3. Ross RK, Berstein L, Lobo RA, Shimizu H, Stanczyk FZ, Pike MC, Henderson BE: 5-alpha-reductase activity and risk of CaP among Japanese and white and black males. Lancet 1992;339:887–889.
  4. Davis DL, Russel DW: Unusual length polymorphism in human steroid 5α reductase type 2 gene (SRD5A2). Hum Mol Genet 1993;2:820.
  5. Reichardt JK, Makridakis N, Henderson BE, Yu MC, Pike MC, Ross RK: Genetic variability of the human SRD5A2 gene: Implications for CaP risk. Cancer Res 1995; 55:3973–3975.
  6. Irvine RA, Yu MC, Ross RK, Coetzee GA: The CAG and GGC microsatellites of the androgen receptor gene are linkage disequilibrium in men with CaP. Cancer Res 1995;55:1937–1940.
  7. Hanchette CL, Schwartz GG: Geographic patterns of CaP mortality. Cancer 1992;70:2861–2869.
  8. Schwartz GG, Hulka BS: Is vitamin D deficiency a risk factor for CaP? Anticancer Res 1990;10:1307–1312.
  9. Taylor JA, Hirvonen A, Watson M, Pittman G, Mohler JL, Bell DA: Association of CaP with vitamin D receptor gene polymorphism. Cancer Res 1996;56:4108–4110.
  10. Grönberg H, Damber L, Damber JE: Studies of genetic factors in CaP in twin population. J Urol 1994;152:1484–1489.

    External Resources

  11. Mc Whorter WP, Hernandez AD, Meikle AW, Terreros JA, Smith JR, Skolnick MH, Cannon-Albright LA, Eyre HJ: A screening study of CaP in high risk families J Urol 1992;148:826–828.
  12. Narod SA, Dupont A, Cusan L, Diamond P, Gomez JL, Suburu R, Labrie F: The impact of family history on early detection of CaP. Nature Med 1995;1: 99–101.
  13. Aprikian AG, Bazinet M, Plante M, Meshref A, Trudel C, Aronson S, Nachabe M, Peloquin F, Déssureault J, Narod S, Bégin L, Elhilali M: Family history and the risk of prostatic carcinoma in a high risk group of urological patients. J Urol 1995;154:404–406.

    External Resources

  14. Monroe KR, Yu MC, Kolonel LN, Coetzee GA, Wilkens LR, Ross RK, Henderson BE: Evidence of an X-linked or recessive genetic component to CaP risk. Nature Med 1995;1:827–829.

    External Resources

  15. Steinberg GD, Carter BS, Beaty TH, Childs B, Walsh PC: Family history and the risk of CaP. Prostate 1990;17:337–347.
  16. Tulinius H, Egilsson V, Otafsdottir H, Sigvaldason H: Risk of prostate, ovarian and endometrial cancer among relatives of women with breast cancer. BMJ 1992; 305:855–857.
  17. Whittemore AS, Wu AH, Kolonel LN, John EM, Gallagher RP, Howe GR, West DW, Teh CZ, Stamey T: Family history of CaP risk in Blacks, White, and Asian men in the United States and Canada. Am J Epidemiol 1995;141:732–740.

    External Resources

  18. Hayes RB, Liff JM, Pottern LM, Greenberg RS, Schoenberg JB, Schwartz AG, Swanson GM, Silverman DT, Brown LM, Hoover RN, Fraumeni JF: CaP risk in US blacks and whites with family history of cancer. Int J Cancer 1995; 60:361–364.

    External Resources

  19. Carter BS, Beaty TH, Steinberg GD, Childs B, Walsh PC: Mendelian inheritance of familial CaP. Proc Natl Acad Sci USA 1992;89:3367–3371.
  20. Carter BS, Bova GS, Beaty TH, Steinberg GD, Childs B, Isaacs WB, Walsh PC: Hereditary CaP: Epidemiologic and clinical features. J Urol 1993;150: 797–802.
  21. Valeri A, Berthon Ph, Fournier G, Buzzi JC, Briollais L, Meria P, Blanché H, Bellanné-Chantelot C, Teillac P, Demenais F, Mangin Ph, Cohen N, Le Duc A, Cussenot O: Etude PROGENE, projet français d’analyse génétique du cancer de la prostate familial: recrutement et analyse. Prog Urol 1996;6:226–235.
  22. Smith JR, Freije D, Carpten JD, Grönberg H, Xu JF, Isaacs SD, et al: Major susceptibility locus for CaP on chromosome 1 suggested by a genome-wide search. Science 1996;274:1371–1374.
  23. McIndoe RA, Stanford JL, Gibbs M, Jarvik GP, Brandzel S, Neal CL, Li S, Gammack JT, Gay AA, Goode EL, Hood L, Ostrander EA: Linkage analysis of 49 high-risk families does not support a common familial CaP susceptibility gene at 1q24–25. Am J Hum Genet 1997:61;347–353.
  24. Latil A, Cussenot O, Fournier G, Lidereau R: Infrequent allelic imbalance at the major susceptibility HPC1 locus in sporadic prostate tumours. Int J Cancer 1997; 71:118.
  25. Woolf CM: An investigation of the familial aspects of carcinoma of the prostate. Cancer 1960;13:739–744.
  26. Sun S, Narod SA, Aprikian A, Ghadirian P, Labrie F: Androgen receptor and familial CaP. Nature Med 1995;1:848–849.
  27. Bishop DT, Meike AW, Slattery ML, Stringham JD, Ford MH, West DW: The effect of nutritional factors on sex hormone levels in male twins. Genet Epidemiol 1988; 5:43–59.

    External Resources

  28. Grönberg H, Damber L, Damber JE: Familial CaP in Sweden. A nationwide register cohort study. Cancer, 1996;77:138–143.
  29. Gao X, Zacharek A, Salkowski A, Grignon DJ, Sakr W, Porter AT, Honn KV: Loss of heterozygosity of BRCA1 and other loci on chromosome 17q in human CaP. Cancer Res 1995;55:1002–1005.

    External Resources

  30. Gudmundsson J, Johannesdottir G, Bergthorsson JT, Arason A, Ingvarsson S, Egilsson V, Barkardottir RB: Different tumor types from BRCA2 carriers show wild-type chromosome deletions on 13q12–q13. Cancer Res 1995;55:4830–4832.
  31. Latil A, Cussenot O, Fournier G, Lidereau R: The BRCA2 gene is not relevant to sporadic prostate tumours. Int J Cancer 1996;66:282–283.
  32. Cussenot O, Valeri A, Meria P, Berthon Ph, Fournier G, Teillac P, Mangin Ph, Le Duc A: Aspects génétiques des cancers de la prostate. Pathol Biol 1996; 44:737–743.
  33. Latil A, Cussenot O, Fournier G, Driouch K, Lidereau R: Loss of heterozygosity at chromosome 16q in prostate adenocarcinoma: Identification of three independent regions. Cancer Res 1997;57:1058–1062.

    External Resources

  34. Latil A, Cussenot O, Fournier G, Lidereau R: Differential chromosome allelic imbalance in the progression of human CaP. J Urol 1996;156:2079–2083.
  35. Fournier G, Valeri A, Cussenot O: Formes familiales des cancers de l’appareil urogénital. Prog Urol 1996;6:343–356.

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