Advertisement

Central European Journal of Medicine

, Volume 1, Issue 3, pp 261–269 | Cite as

Familial and inherited breast cancers in Lower Silesia (Poland)

  • Marek Bębenek
  • Anna Rutkowska
  • Jerzy Błaszczyk
Research Article
  • 27 Downloads

Abstract

The purpose of this study was to determine the frequencies of hereditary and familial breast cancers among Lower Silesian women. The questionnaires, dealing with cancer episodes in first-and second-degree relatives, were sent to 5,000 females, who were diagnosed with breast cancer between 1984 and 2005. Twenty-five percent of the questionnaires were completed and returned. Their analysis and further counseling revealed that 24.9% of the responders met the criteria for familial breast cancer (FBC), including 10.5% definitive cases. Mutations in BRCA1 were detected in 32.5% and 1.9% of patients with definitive and suspected FBC, respectively. They all represented three of the abnormalities of the BRCA1 gene: 300T/G, 4153delA and 5382insC. No mutations of BRCA2 were found in material studied. Although a fraction of FBCs identified in our study was similar to those described in other European countries and in the United States, the percentages of genetic mutations seen on routine tests were relatively low. Consequently, the standardized analysis of oncological pedigree seems to be a more valuable diagnostic tool if patients with familial aggregations of breast cancer are targeted in a prophylactic context only.

Keywords

Breast cancer familial cancer hereditary cancer 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. [1]
    Y. Miki et al.: “A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1”, Science, Vol. 266, (1994), pp. 66–71.PubMedGoogle Scholar
  2. [2]
    R. Wooster, G. Bignell, J. Lancaster, S. Swift, S. Seal, J. Mangion, N. Collins, S. Gregory, C. Gumbs and G. Micklem: “Identification of the breast cancer susceptibility gene BRCA2”, Nature, Vol. 378, (1995), pp. 789–792.PubMedCrossRefGoogle Scholar
  3. [3]
    A.M. Martin and B.L. Weber: “Genetic and hormonal risk factors in breast cancer”, J. Natl. Cancer Inst., Vol. 92, (2000), pp. 1126–1135.PubMedCrossRefGoogle Scholar
  4. [4]
    S.W. Beenken and K.I. Bland: “Breast cancer genetics”, In: C.N. Ellis (Ed.): Inherited cancer syndromes. Current clinical management, Springer-Verlag, New York, Berlin, Heidelberg, 2004, pp. 91–133.CrossRefGoogle Scholar
  5. [5]
    R.W. Sattin, G.L. Rubin, L.A. Webster, C.M. Huezo, P.A. Wingo, H.W. Ory and P.M. Layde: “Family history and the risk of breast cancer”, JAMA, Vol. 253, (1985), pp. 1908–1913.PubMedCrossRefGoogle Scholar
  6. [6]
    E.B. Claus, N.J. Risch and W.D. Thompson: “Age at onset as an indicator of familial risk of breast cancer”, Am. J. Epidemiol., Vol. 131, (1990), pp. 961–972.PubMedGoogle Scholar
  7. [7]
    G.A. Colditz, W.C. Willett, D.J. Hunter, M.J. Stampfer, J.E. Manson, C.H. Hennekens and B.A. Rosner: “Family history, age, and risk of breast cancer. Prospective data from the Nurses’ Health Study”, JAMA, Vol. 270, (1993), pp. 338–343.PubMedCrossRefGoogle Scholar
  8. [8]
    M.L. Slattery and R.A. Kerber: “A comprehensive evaluation of family history and breast cancer risk. The Utah Population Database”, JAMA, Vol. 270, (1993), pp. 1563–1568.PubMedCrossRefGoogle Scholar
  9. [9]
    K.A. Metcalfe, J.L. Semple and S.A. Narod: “Time to reconsider subcutaneous mastectomy for breast-cancer prevention?”, Lancet Oncol., Vol. 6, (2005), pp. 431–434.PubMedCrossRefGoogle Scholar
  10. [10]
    R.T. Acton and L.M. Nabell: “Assessing genetic risk of cancer”, In: C.N. Ellis (Ed.): Inherited cancer syndromes. Current clinical management, Springer-Verlag, New York, Berlin, Heidelberg, 2004, pp. 1–29.CrossRefGoogle Scholar
  11. [11]
    J. Błaszczyk, M. Pudełko and K. Cisarż: Nowotwory złośliwe w województwie dolnośląskim w roku 2003, Dolnośląski Rejestr Nowotworów, Wrocław, 2005.Google Scholar
  12. [12]
    Ustawa z dnia 29 sierpnia 1997 r. o ochronie danych osobowych. Dz. U. 1997, nr 133, poz. 883.Google Scholar
  13. [13]
    D.K. Lahiri and J.I. NurnbergerJr: “A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies”, Nucleic Acids Res., Vol. 19, (1991), p. 5444.PubMedGoogle Scholar
  14. [14]
    L.S. Friedman, S.A. Gayther, T. Kurosaki, D. Gordon, B. Noble, G. Casey, P.A. Ponder and H. Anton-Culver: “Mutation analysis of BRCA1 and BRCA2 in a male breast cancer population”, Am. J. Hum. Genet., Vol. 60, (1997), pp. 313–319.PubMedGoogle Scholar
  15. [15]
    F. Sanger, S. Nicklen and A.R. Coulson: “DNA sequencing with chain-terminating inhibitors”, Proc. Natl. Acad. Sci., Vol. 74, (1977), pp. 5463–5467.PubMedCrossRefGoogle Scholar
  16. [16]
    B. Górski et al.: “Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer”, Am. J. Hum. Genet., Vol. 66, (2000), pp. 1963–1968.PubMedCrossRefGoogle Scholar
  17. [17]
    B. Górski et al.: “A high proportion of founder BRCA1 mutations in Polish breast cancer families”, Int. J. Cancer, Vol. 110, (2004), pp. 683–686.PubMedCrossRefGoogle Scholar
  18. [18]
    M. van der Looij, B. Wysocka, I. Brożek, J. Jassem, J. Limon and E. Olah: “Founder BRCA1 mutations and two novel germline BRCA2 mutations in breast and/or ovarian cancer families from North-Eastern Poland”, Hum. Mutat., Vol. 15, (2000), pp. 480–481.CrossRefGoogle Scholar
  19. [19]
    H. Janiszewska, O. Haus, A. Lauda-Świeciak, M. Pasińska, R. Laskowski, W. Szymański, B. Górski and J. Lubiński: “Frequency of three BRCA1 gene founder mutations in breast/ovarian cancer families from the Pomerania-Kujawy region of Poland”, Clin. Genet., Vol. 64, (2003), pp. 502–508.PubMedCrossRefGoogle Scholar
  20. [20]
    M. Perkowska, I. Brożek, B. Wysocka, K. Haraldsson, T. Sandberg, U. Johansson, G. Sellberg, A. Borg and J. Limon: “BRCA1 and BRCA2 mutation analysis in breastovarian cancer families from northeastern Poland”, Hum. Mutat., Vol. 21, (2003), pp. 553–554.PubMedCrossRefGoogle Scholar
  21. [21]
    J. Steffen, D. Nowakowska, A. Niwińska, D. Czapczak, A. Kluska, M. Piątkowska, A. Wiśniewska and Z. Paszko: “Germline mutations 657del5 of the NBS1 gene contribute significantly to the incidence of breast cancer in Central Poland”, Int. J. Cancer, Vol. 119, (2006), pp. 472–475.PubMedCrossRefGoogle Scholar
  22. [22]
    J. Peto, N. Collins, R. Barfoot, S. Seal, W. Warren, N. Rahman, D.F. Easton, C. Evans, J. Deacon and M.R. Stratton: “Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer”, J. Natl. Cancer Inst., Vol. 91, (1999), pp. 943–949.PubMedCrossRefGoogle Scholar
  23. [23]
    Anglian Breast Cancer Study Group: “Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases”, Br. J. Cancer, Vol. 83, (2000), pp. 1301–1308.CrossRefGoogle Scholar
  24. [24]
    D. Thompson and D. Easton: “The genetic epidemiology of breast cancer genes”, J. Mammary Gland Biol. Neoplasia, Vol. 9, (2004), pp. 221–236.PubMedCrossRefGoogle Scholar
  25. [25]
    D.M. Eccles and G. Pichert: “Familial non-BRCA1/BRCA2-associated breast cancer”, Lancet Oncol., Vol. 6, (2005), pp. 705–711.PubMedGoogle Scholar
  26. [26]
    M.M. de Jong, I.M. Nolte, G.J. te Meerman, W.T. van der Graaf, J.C. Oosterwijk, J.H. Kleibeuker, M. Schaapveld and E.G. de Vries: “Genes other than BRCA1 and BRCA2 involved in breast cancer susceptibility”, J. Med. Genet., Vol. 39, (2002), pp. 225–242.PubMedCrossRefGoogle Scholar
  27. [27]
    A.M. Dunning, M. Dowsett, C.S. Healey, L. Tee, R.N. Luben, E. Folkerd, K.L. Novik, L. Kelemen, S. Ogata, P.D. Pharoah, D.F. Easton, N.E. Day and B.A. Ponder: “Polymorphisms associated with circulating sex hormone levels in postmenopausal women”, J. Natl. Cancer Inst., Vol. 96, (2004), pp. 936–945.PubMedCrossRefGoogle Scholar
  28. [28]
    R. Salovaara et al.: “Population-based molecular detection of hereditary nonpolyposis colorectal cancer”, J. Clin. Oncol., Vol. 18, (2000), pp. 2193–2200.PubMedGoogle Scholar
  29. [29]
    R. Braczkowski, E. Nowakowska-Zajdel, B. Zubelewicz, M. Muc-Wierzgon and W. Romanowski: “Genetic testing for breast cancer susceptibility: Polish women’s attitudes”, J. Exp. Clin. Cancer Res., Vol. 17, (1998), pp. 299–302.PubMedGoogle Scholar
  30. [30]
    K. Gwyn, S.W. Vernon and P.M. Conoley: “Intention to pursue genetic testing for breast cancer among women due for screening mammography”, Cancer Epidemiol. Biomarkers Prev., Vol. 12, (2003), pp. 96–102.PubMedGoogle Scholar

Copyright information

© Versita Warsaw and Springer-Verlag Berlin Heidelberg 2006

Authors and Affiliations

  • Marek Bębenek
    • 1
  • Anna Rutkowska
    • 1
  • Jerzy Błaszczyk
    • 1
  1. 1.ONKOMED Specialist ClinicWroclawPoland

Personalised recommendations