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Breast Cancer Research and Treatment

, Volume 90, Issue 2, pp 165–167 | Cite as

The CHEK2 c.1100delC germline mutation rarely contributes to breast cancer development in the Czech Republic

  • Zdenek Kleibl
  • Jan Novotny
  • Drahomira Bezdickova
  • Radek Malik
  • Petra Kleiblova
  • Lenka Foretova
  • Lubos Petruzelka
  • Denisa Ilencikova
  • Petr Cinek
  • Petr Pohlreich
Report

Abstract

In this study we performed the CHEK2 c.1100delC mutation analysis in 1046 breast cancer patients and 730 unaffected control individuals. The mutated allele was found in 3 out of 688 unselected sporadic breast cancer patients and in 1 out of 358 familial/early onset breast cancer patients. Two mutations were identified in a cohort of 730 controls. Our results support the finding that frequency of CHEK2 c.1100delC mutation varies among different populations. Based on our results, genotyping of CHEK2 c.1100delC mutation in clinical settings in the Czech Republic could not be recommended.

Keywords

breast cancer checkpoint kinase 2 (CHEK2) denaturing high performance liquid chromatography (DHPLC) mutation analysis 

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References

  1. 1.
    Vahteristo, P, Bartkova, J, Eerola, H, Syrjakoski, K, Ojala, S, Kilpivaara, O,  et al. 2002A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancerAm J Hum Genet71432438Google Scholar
  2. 2.
    Kilpivaara, O, Vahteristo, P, Falck, J, Syrjakoski, K, Eerola, H, Easton, D,  et al. 2004CHEK2 variant I157T may be associated with increased breast cancer riskInt J Cancer111543547Google Scholar
  3. 3.
    Meijers-Heijboer, H, Wijnen, J, Vasen, H, Wasielewski, M, Wagner, A, Hollestelle, A,  et al. 2003The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotypeAm J Hum Genet7213081314Google Scholar
  4. 4.
    Broeks, A, Witte, L, Nooijen, A, Huseinovic, A, Klijn, JG, Leeuwen, FE,  et al. 2004Excess risk for contralateral breast cancer in CHEK2*1100delC germline mutation carriersBreast Cancer Res Treat839193Google Scholar
  5. 5.
    Pohlreich, P, Stribrna, J, Kleibl, Z, Zikan, M, Kalbacova, R, Petruzelka, L,  et al. 2003Mutations of the BRCA1 gene in hereditary breast and ovarian cancer in the Czech RepublicMed Princ Pract122329Google Scholar
  6. 6.
    Foretova, L, Machackova, E, Navratilova, M, Pavlu, H, Hruba, M, Lukesova, M,  et al. 2004BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech RepublicHum Mutat23397398Google Scholar
  7. 7.
    Sodha, N, Houlston, RS, Williams, R, Yuille, MA, Mangion, J, Eeles, RA 2002A robust method for detecting CHK2/RAD53 mutations in genomic DNAHum Mutat19173177Google Scholar
  8. 8.
    Offit K, Pierce H, Kirchhoff T, Kolachana P, Rapaport B, Gregersen P et al.: Frequency of CHEK2*1100delC in New York breast cancer cases and controls. BMC Med Genet 4: 1–2003.Google Scholar
  9. 9.
    The CHEK2 Breast Cancer Case-Control Consortium: CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet 74: 1175–1182, 2004 Google Scholar
  10. 10.
    Dufault, MR, Betz, B, Wappenschmidt, B, Hofmann, W, Bandick, K, Golla, A,  et al. 2004Limited relevance of the CHEK2 gene in hereditary breast cancerInt J Cancer110320325Google Scholar
  11. 11.
    Ohayon, T, Gal, I, Baruch, RG, Szabo, C, Friedman, E 2004CHEK2*1100delC and male breast cancer risk in IsraelInt J Cancer108479480Google Scholar
  12. 12.
    Cybulski, C, Huzarski, T, Gorski, B, Masojc, B, Mierzejewski, M, Debniak, T,  et al. 2004A novel founder CHEK2 mutation is associated with increased prostate cancer riskCancer Res6426772679Google Scholar
  13. 13.
    Caligo, MA, Agata, S, Aceto, G, Crucianelli, R, Manoukian, S, Peissel, B,  et al. 2004The CHEK2 c.1100delC mutation plays an irrelevant role in breast cancer predisposition in ItalyHum Mutat24100101Google Scholar
  14. 14.
    Osorio, A, Rodriguez-Lopez, R, Diez, O, dela, HM, Ignacio, MJ, Vega, A,  et al. 2004The breast cancer low-penetrance allele 1100delC in the CHEK2 gene is not present in Spanish familial breast cancer populationInt J Cancer1085456Google Scholar

Copyright information

© Springer 2005

Authors and Affiliations

  • Zdenek Kleibl
    • 1
  • Jan Novotny
    • 2
  • Drahomira Bezdickova
    • 3
  • Radek Malik
    • 2
  • Petra Kleiblova
    • 4
  • Lenka Foretova
    • 5
  • Lubos Petruzelka
    • 2
  • Denisa Ilencikova
    • 6
  • Petr Cinek
    • 7
  • Petr Pohlreich
    • 1
  1. 1.Department of Biochemistry and Experimental Oncology, First Faculty of MedicineCharles UniversityPragueCzech Republic
  2. 2.Department of OncologyCharles UniversityPrague
  3. 3.Department of Clinical Biochemistry and Laboratory DiagnosticsCharles UniversityPrague
  4. 4.Department of Gynecology and Obstetrics, First Faculty of MedicineCharles UniversityPrague
  5. 5.Department of Cancer Epidemiology and Genetics, and Laboratory MedicineMasaryk Memo- rial Cancer InstituteBrno
  6. 6.Department of Clinical OncologyNational Oncology InstituteBratislavaSlovakia
  7. 7.Department of Clinical OncologyCentral Military HospitalPragueCzech Republic

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