Genetic Counselling in Male Carriers of BRCA1 and BRCA2 Gene Mutations

Česká verzia

Authors: P. Plevová ^1,2; A. Hladíková ¹
Authors place of work: Oddělení lékařské genetiky, Fakultní nemocnice Ostrava ¹; Lékařská fakulta Ostravské univerzity v Ostravě ²
Published in the journal: Klin Onkol 2012; 25(Supplementum): 67-73

Summary

BRCA1 and BRCA2 gene mutations cause hereditary breast and ovarian cancer syndrome. The disease has autosomal dominant mode of inheritance, and both genders have the same probability of inheriting the trait. However, the phenotype is different in males and females, and the risk of cancer is significantly lower in males. Although the results of some studies are conflicting, it has been clearly shown that male BRCA mutation carriers are predisposed to an increased risk of breast, prostate, pancreas and stomach cancer when compared to the general population. With respect to the routinely performed predictive testing of healthy persons in families with BRCA gene mutations, results of these studies are taken into consideration. Screening programs are offered to the patients with the goal of early detection of cancer.

Key words:
BRCA1 gene – BRCA2 gene – mutation – male carrier – prostate cancer – pancreatic cancer – colorectal cancer – gastric cancer

This study was supported by the Education for Competitiveness OP project:
CZ.1.07/2.3.00/20.0040.

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers.

Submitted:
15. 5. 2012

Accepted:
26. 5. 2012

Zdroje

1. Macháčková E, Plevová P, Lukešová M et al. Genetická predispozice ke vzniku maligního nádoru prsu. Klin Onkol 2006; 19 (Suppl): 48–54.

2. Foretová L. Genetické vyšetření a klinické sledování u dědičného syndromu nádorů prsu a vaječníků. Onkologická Péče 2007; 2: 3–5.

3. Venkitaraman AR. Cancer susceptibility and the functions of BRCA1 and BRCA2. Cell 2002; 108(2): 171–182.

4. Mote PA, Leary JA, Avery KA et al. Germ-line mutations in BRCA1 or BRCA2 in the normal breast are associated with altered expression of estrogen-responsive proteins and the predominance of progesterone receptor A. Genes Chromosomes Cancer 2004; 39(3): 236–248.

5. Mohamad HB, Apffelstaedt JP. Counseling for male BRCA mutation carriers: a review. Breast 2008; 17(5): 441–450.

6. Johansen Taber KA, Morisy LR, Osbahr AJ 3^rd et al. Male breast cancer: risk factors, diagnosis, and management (Review). Oncol Rep 2010; 24(5): 1115–1120.

7. Thorlacius S, Sigurdsson S, Bjarnadottir H et al. Study of a single BRCA2 mutation with high carrier frequency in a small population. Am J Hum Genet 1997; 60(5): 1079–1084.

8. Rahman N, Stratton MR. The genetics of breast cancer susceptibility. Annu Rev Genet 1998; 32: 95–121.

9. Friedman LS, Gayther SA, Kurosaki T et al. Mutation analysis of BRCA1 and BRCA2 in a male breast cancer population. Am J Hum Genet 1997; 60(2): 313–319.

10. Ford D, Easton DF, Stratton M et al. Genetic heterogenity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. Am J Hum Genet 1998; 62(3): 676–689.

11. Lukešová M, Macháčková E, Vašíčková P. Výsledky testování BRCA1 a BRCA2 genů v molekulárně genetické laboratoři Masarykova onkologického ústavu. Klin Onkol 2006; 19 (Suppl): S55–S62.

12. Kwong A, Wong CH, Suen DT et al. Accuracy of BRCA1/2 mutation prediction models for different ethnicities and genders: experience in a southern Chinese cohort. World J Surg 2012; 36(4): 702–713.

13. Adank MA, van Mil SE, Gille JJ et al. PALB2 analysis in BRCA2-like families. Breast Cancer Res Treat 2011; 127(2): 357–362.

14. Ottini L, Silvestri V, Rizzolo P et al. Clinical and pathologic characteristics of BRCA-positive and BRCA-negative male breast cancer patients: results from a collaborative multicenter study in Italy. Breast Cancer Res Treat 2012. In press.

15. Easton D, Steele L, Fields P et al. Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q12e13. Am J Hum Genet 1997; 61(1): 120–128.

16. Schlebusch CM, Dreyer G, Sluiter MD et al. Cancer prevalence in 129 breast-ovarian cancer families tested for BRCA1 and BRCA2 mutations. S Afr Med J 2010; 100(2): 113–117.

17. Brose MS, Rebbeck TR, Calzone KA et al. Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program. J Natl Cancer Inst 2002; 94(18): 1365–1372.

18. Thompson D, Easton D. Breast Cancer Linkage Consortium. Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am J Hum Genet 2001; 68(2): 410–419.

19. Ford D, Easton DF, Bishop DT et al. Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet 1994; 343(8899): 692–695.

20. Sigurdsson S, Thorlacius S, Tomasson J et al. BRCA2 mutation in Icelandic prostate cancer patients. J Mol Med 1997; 75(10): 758–761.

21. Struewing JP, Hartge P, Wacholder S et al. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 1997; 336(20): 1401–1408.

22. Cancer risks in BRCA2 mutation carriers. The Breast Cancer Linkage Consortium. J Natl Cancer Inst 1999; 91(15): 1310–1316.

23. Foulkes WD, Brunet JS, Warner E et al. The importance of a family history of breast cancer in predicting the presence of a BRCA mutation. Am J Hum Genet 1999; 65(6): 1776–1779.

24. Warner E, Foulkes W, Goodwin P et al. Prevalence and penetrance of BRCA1 and BRCA2 gene mutations in unselected Ashkenazi Jewish women with breast cancer. J Natl Cancer Inst 1999; 91(14): 1241–1247.

25. van Asperen CJ, Brohet RM, Meijers-Heijboer EJ et al. Cancer risks in BRCA2 families: estimates for sites other than breast and ovary. J Med Genet 2005; 42(9): 711–719.

26. Lehrer S, Fodor F, Stock RG et al. Absence of 185delAG mutation of the BRCA1 gene and 6174delT mutation of the BRCA2 gene in Ashkenazi Jewish men with prostate cancer. Br J Cancer 1998; 78(6): 771–773.

27. Nastiuk KL, Mansukhani M, Terry MB et al. Common mutations in BRCA1 and BRCA2 do not contribute to early prostate cancer in Jewish men. Prostate 1999; 40(3): 172–177.

28. Hubert A, Peretz T, Manor O et al. The Jewish Ashkenazi founder mutations in the BRCA1/BRCA2 genes are not found at an increased frequency in Ashkenazi patients with prostate cancer. Am J Hum Genet 1999; 65(3): 921–924.

29. Vazina A, Baniel J, Yaacobi Y et al. The rate of the founder Jewish mutations in BRCA1 and BRCA2 in prostate cancer patients in Israel. Br J Cancer 2000; 83(4): 463–466.

30. Thompson D, Easton DF. Cancer incidence in BRCA1 mutation carriers. J Natl Cancer Inst 2002; 94(18): 1358–1365.

31. Kirchhoff T, Kauff N, Kolachana P et al. BRCA mutations and the risk of prostate and colorectal cancer in Ashkenazi Jews. Am J Hum Genet 2003; 73(5): 246.

32. Lorenzo Bermejo J, Hemminki K. Risk of cancer at sites other than the breast in Swedish families eligible for BRCA1 or BRCA2 mutation testing. Ann Oncol 2004; 15(12): 1834–1841.

33. Tryggvadóttir L, Vidarsdóttir L, Thorgeirsson T et al. Prostate cancer progression and survival in BRCA2 mutation carriers. J Natl Cancer Inst 2007; 99(12): 929–935.

34. Mitra A, Fisher C, Foster CS et al. Prostate cancer in male BRCA1 and BRCA2 mutation carriers has a more aggressive phenotype. Br J Cancer 2008; 98(2): 502–507.

35. Agalliu I, Gern R, Leanza S et al. Associations of high--grade prostate cancer with BRCA1 and BRCA2 founder mutations. Clin Cancer Res 2009; 15(3): 1112–1220.

36. Gallagher DJ, Gaudet MM, Pal P et al. Germline BRCA mutations denote a clinicopathologic subset of prostate cancer. Clin Cancer Res 2010; 16(7): 2115–2121.

37. Moran A, O’Hara C, Khan S et al. Risk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutations. Fam Cancer 2012; 11(2): 235–242.

38. Narod SA, Neuhausen S, Vichodez G et al. Rapid progression of prostate cancer in men with a BRCA2 mutation. Br J Cancer 2008; 99(2): 371–374.

39. Thorne H, Willems AJ, Niedermayr E et al. Decreased prostate cancer-specific survival of men with BRCA2 mutations from multiple breast cancer families. Cancer Prev Res 2011; 4(7): 1002–1010.

40. Mitra AV, Bancroft EK, Barbachano Y et al. Targeted prostate cancer screening in men with mutations in BRCA1 and BRCA2 detects aggressive prostate cancer: preliminary analysis of the results of the IMPACT study. BJU Int 2011; 107(1): 28–39.

41. Leongamornlert D, Mahmud N, Tymrakiewicz M et al. Germline BRCA1 mutations increase prostate cancer risk. Br J Cancer 2012. In press.

42. Shih HA, Nathanson KL, Seal S et al. BRCA1 and BRCA2 mutations in breast cancer families with multiple primary cancers. Clin Cancer Res 2000; 6(11): 4259–4254.

43. Risch HA, McLaughlin JR, Cole DE et al. Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. Am J Hum Genet 2001; 68(3): 700–710.

44. Lowery MA, Kelsen DP, Stadler ZK et al. An emerging entity: pancreatic adenocarcinoma associated with a known BRCA mutation: clinical descriptors, treatment implications, and future directions. Oncologist 2011; 16(10): 1397–1402.

45. Stadler ZK, Salo-Mullen E, Patil SM et al. Prevalence of BRCA1 and BRCA2 mutations in Ashkenazi Jewish families with breast and pancreatic cancer. Cancer 2012; 118(2): 493–499.

46. Goggins M, Schutte M, Lu J et al. Germline BRCA2 gene mutations in patients with apparently sporadic pancreatic carcinomas. Cancer Res 1996; 56(23): 5360–5364.

47. Hahn SA, Greenhalf B, Ellis I et al. BRCA2 germline mutations in familial pancreatic carcinoma. J Natl Cancer Inst 2003; 95(3): 214–221.

48. Murphy KM, Brune KA, Griffin C et al. Evaluation of candidate genes MAP2K4, MADH4, ACVR1B, and BRCA2 in familial pancreatic cancer: deleterious BRCA2 mutations in 17%. Cancer Res 2002; 62(13): 3789–3793.

49. Niell BL, Rennert G, Bonner JD et al. BRCA1 and BRCA2 founder mutations and the risk of colorectal cancer. J Natl Cancer Inst 2004; 96(1): 15–21.

50. Kirchhoff T, Satagopan J, Kauff N et al. Frequency of BRCA1 and BRCA2 mutations in unselected Ashkenazi Jewish patients with colorectal cancer. J Natl Cancer Inst 2004; 96(1): 68–70.

51. Evans HS, Lewis CM, Robinson D al. Incidence of multiple primary cancers in a cohort of women diagnosed with breast cancer in southeast England. Br J Cancer 2001; 84(3): 435–440.

52. Kadouri L, Temper M, Grenader T et al. Absence of founder BRCA1 and BRCA2 mutations in cutaneous malignant melanoma patients of Ashkenazi origin. Fam Cancer 2009; 8(1): 29–32.

53. Hearle N, Damato BE, Humphreys J et al. Contribution of germline mutations in BRCA2, P16(INK4A), P14(ARF) and P15 to uveal melanoma. Invest Ophthalmol Vis Sci 2003; 44(2): 458–462.

54. Jaworowska E, Tarnowska C, Lubiński J et al. Clinical characteristics of laryngeal cancer in BRCA-1 mutation carriers. Anticancer Res 2009; 29(7): 2703–2705.

55. Al-Mulla F, Bland JM, Serratt D et al. Age-dependent penetrance of different germline mutations in the BRCA1 gene. J Clin Pathol 2009; 62(4): 350–356.

56. Panchal S, Shachar O, O’Malley F et al. Breast cancer in a BRCA2 mutation carrier with a history of prostate cancer. Nat Rev Clin Oncol 2009; 6(10): 604–607.

57. Plevová P, Novotný J, Foretová L et al. Syndrom hereditárního karcinomu prsu a ovaria. Klin Onkol 2009; 22 (Suppl): S8–S11.

58. Daly M. NCCN. Practice guidelines: genetics/familial high-risk cancer screening. Oncol 1999; 13(11A): 161–182.

59. Munn S. When should men undergo mammography? AJR Am J Roentgenol 2002; 178(6): 1419–1420.

60. Brenner RJ, Weitzel JN, Hansen N et al. Screening-detected breast cancer in a man with BRCA2 mutation: case report. Radiol 2004; 230(2): 553–555.

61. Villers A, Rébillard X, Soulié M et al. Prostate cancer screening. Prog Urol 2003; 13(2): 209–214.

62. Smith RA, Cokkinides V, Eyre HJ. American Cancer Society guidelines for the early detection of cancer, 2003. CA Cancer J Clin 2003; 53(1): 27–43.

63. Hruban RH, Canto MI, Yeo CJ. Prevention of pancreatic cancer and strategies for management of familial pancreatic cancer. Dig Dis 2001; 19(1): 76–84.

64. Canto MI, Goggins M, Hruban RH et al. Screening for early pancreatic neoplasia in high-risk individuals: a prospective controlled study. Clin Gastroenterol Hepatol 2006; 4(6): 766–781.

65. Brentnall TA. Cancer surveillance of patients from familial pancreatic cancer kindreds. Med Clin North Am 2000; 84(3): 707–718.

66. American gastroenterological association medical position statement: epidemiology, diagnosis, and treatment of pancreatic ductal adenocarcinoma. Gastroenterology 1999; 117(6): 1463–1484.

67. Sonnenblick A, Kadouri L, Appelbaum L et al. Complete remission, in BRCA2 mutation carrier with metastatic pancreatic adenocarcinoma, treated with cisplatin based therapy. Cancer Biol Ther 2011; 12(3): 165–168.

68. Layke JC, Lopez PP. Gastric cancer: diagnosis and treatment options. Am Fam Phys 2004; 69(5): 1133–1140.

69. Whittemore AS, Gong G, Itnyre J. Prevalence and contribution of BRCA1 mutations in breast cancer and ovarian cancer: results from three U.S. population-based case-control studies of ovarian cancer. Am J Hum Genet 1997; 60(3): 496–504.

70. Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group. Br J Cancer 2000; 83(10): 1301–1308.

71. Satagopan JM, Offit K, Foulkes W et al. The lifetime risks of breast cancer in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations. Cancer Epidemiol Biomarkers Prev 2001; 10(5): 467–473.

72. Antoniou A, Pharoah PD, Narod S et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 2003; 72(5): 1117–1130.

73. King MC, Marks JH, Mandell JB. New York Breast Cancer Study Group. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 2003; 302(5645): 643–646.

74. Metcalfe K, Lubinski J, Lynch HT et al. Family history of cancer and cancer risks in women with BRCA1 or BRCA2 mutations. J Natl Cancer Inst 2010; 102(24): 1874–1878.

75. Evans DG, Binchy A, Shenton A et al. Comparison of proactive and usual approaches to offering predictive testing for BRCA1/2 mutations in unaffected relatives. Clin Genet 2009; 75(2): 124–132.

76. McAllister MF, Evans DG, Ormiston W et al. Men in breast cancer families: a preliminary qualitative study of awareness and experience. J Med Genet 1998; 35(9): 739–744.