Preventing hereditary risk of breast and ovarian cancer

Czech version

Authors: L. Foretová
Authors‘ workplace: Oddělení epidemiologie a genetiky nádorů, Masarykův onkologický ústav Brno
Published in: Prakt Gyn 2011; 15(3-4): 167-173
Category: Review Article

Overview

The incidence of breast and ovarian cancer is increasing. Most cancer diseases are caused by a combination of genetic and environmental factors. Hereditary etiology, caused by a germline mutation in a high-risk gene multiplying the probability of cancer, is identified in a small proportion of patients only. Genetic testing may disclose heredity and enable us to use this knowledge for the profit of the patient and her family members. Several genes are responsible for the risk of breast or ovarian cancer. Testing of highly penetrant BRCA1 and BRCA2 genes is recommended for clinical use, the role of moderate or low-risk genes in cancer etiology is unclear. Breast or ovarian cancer may be a part of other hereditary syndromes, where the testing is also possible. Expert teams recommend preventive care for BRCA1 and BRCA2 carriers that comprises of primary prevention with prophylactic surgeries and specialized secondary prevention. Modern diagnostic methods and surgical prevention may improve survival and quality of life.

Key words:
genes BRCA1, BRCA2 – genetic predisposition – breast cancer – ovarian cancer – tumour preventions

Sources

1. Mateju M, Stribrna J, Zikan M et al. Population-based study of BRCA1/2 mutations: family history based criteria indentify minority of mutation carriers. Neoplasma 2010; 57(3): 280–285.

2. Foretová L, Petráková K, Palácová M. et al. Genetic testing and prevention of hereditary cancer at the MMCI – over 10 years of experience. Klin Onkol 2010; 23(6): 388–400.

3. Plevová P, Novotný J, Petráková K et al. Syndrom hereditárního karcinomu prsu a ovarií. Klin Onkol 2009; 22 (Suppl): S6–S11.

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

5. Vašíčková P, Macháčková E, Lukešová M et al. Varianty neznámého významu a intragenová přeskupení v genech BRCA1 a BRCA2. Klin Onkol 2006; 19 (Suppl): 58–62.

6. Zikán M, Jančárková N, Pohlreich P et al. Hereditární dispozice ke karcinomu prsu a ovaria. Čas Lék Česk 2004; 143(1): 26–30.

7. Walsh T, Casadei S, Coats KH et al. Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA 2006; 295(12): 1379–1388.

8. Bartoňková H, Foretová L, Helmichová E et al. Doporučené zásady péče o nemocné s nádory prsu a vaječníků a zdravé osoby se zárodečnými mutace genů BRCA1 nebo BRCA2. Klin Onkol 2003; 16(1): 28–34.

9. Lukešová M, Macháčková E, Vašíčková P et al. Výsledky testování BRCA1 a BRCA2 genů v molekulárně genetické laboratoři Masarykova onkologického ústavu. Klin Onkol 2006; 19 (Suppl): 48–54.

10. Foretova L, Machackova E, Navratilova M et al. BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic. Hum Mutat 2004; 23(4): 397–398.

11. Schneiderová M, Bartoňková H. Úloha magnetické rezonance v mammologické prevenci u žen s dědičným rizikem nádoru prsu. Klin Onkol 2006; 19 (Suppl): 91–96.

12. Warner E, Plewes DB, Shumak RS et al. Comparison of breast magnetic resonance imaging, mammography, and ultrasound for surveillance of women at high risk for hereditary breast cancer. J Clin Oncol 2001; 19(15): 3524–3531.

13. Dražan L. Profylaktická mastektomie a její indikace u rizikových žen. Klin Onkol 2006; 19 (Suppl): 97–100.

14. Eisen A, Rebbeck TR, Wood WC et al. Prophylactic Surgery in women with a hereditary predisposition to breast and ovarian cancer. J Clin Oncol 2000; 18(9): 1980–1995.

15. Blanchard DK, Hartmann LC. Prophylactic surgery for women at high risk for breast cancer. Clin Breast Cancer 2000; 1(2): 127–134.

16. Hughes KS, Papa MZ, Whitney T et al. Prophylactic mastectomy and inherited predisposition to breast carcinoma. Cancer 1999; 86 (Suppl 11): 2502–2515.

17. Meijers-Heijboer EJ, Verhoog LC, Brekelmans CT et al. Presymptomatic DNA testing and prophylactic surgery in families with a BRCA1 or BRCA2 mutation. Lancet 2000; 355(9220): 2015–2020.

18. Meijers-Heijboer H, van Geel B, van Putten WL et al. Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med 2001; 345(3): 159–164.

19. Rebbeck TR, Lynch HT, Neuhausen SL et al. Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N Engl J Med 2002; 346(21): 1616–1622.

20. Rebbeck TR, Levin AM, Eisen A et al. Breast cancer risk after bilateral prophylactic oophorectomy in BRCA1 mutation carriers. J Natl Cancer Inst 1999; 91(17): 1475–1479.

21. Zikan M, Foretova L, Cibula D et al. Hereditary ovarian cancer. Ceska Gynekol 2006; 71(3): 246–251.

22. Kurian AW, Sigal BM, Plevritis SK. Survival analysis of cancer risk reduction strategies for BRCA1/2 mutation carriers. J Clin Oncol 2010; 28(2): 222–231.

23. Modan B, Hartge P, Hirsh-Yechezkel G et al. Parity, oral contraceptives, and the risk of ovarian cancer among carriers and noncarriers of a BRCA1 or BRCA2 mutation. N Engl J Med 2001; 345(4): 235–240.

24. Narod SA, Risch H, Moslehi R et al. Oral contraceptives and the risk of hereditary ovarian cancer. Hereditary Ovarian Cancer Clinical Study Group. N Engl J Med 1998; 339(7): 424–428.

25. Ursin G, Henderson BE, Haile WR et al. Does oral contraceptive use increase the risk of breast cancer in women with BRCA1//BRCA2 mutations more than in other women? Cancer Res 1997; 57(17): 3678–3681.

26. Grabick DM, Hartmann LC, Cerhan JR et al. Risk of breast cancer with oral contraceptive use in women with family history of breast cancer. JAMA 2000; 284(14): 1791–1798.

27. Fisher B, Constantino JP, Wickerham DL et al. Tamoxifen for prevention of breast cancer: report of the National Surgical Adjuvant Breast and Bowel Project P-1 Study. J Natl Cancer Inst 1999; 90(18): 1371–1388.

28. King MC, Wieand S, Hale K. Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: National Surgical Adjuvant Breast and Bowel Project (NSABP-P1) Breast Cancer Prevention Trial. JAMA 2001; 286(18): 2251–2256.

29. Hüttelová R, Kleibl Z, Řezáčová J et al. Předpoklady pro preimplantační genetickou diagnostiku (PDG) u nosičů mutací v nádorových predispozičních genech. Klin Onkol 2009; 22 (Suppl): 69–74.