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CHEK2 1100delC mutation is frequent among Russian breast cancer patients

  • Epidemiology
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Abstract

This study was aimed to assess the role of CHEK2 1100delC mutation in breast cancer (BC) predisposition in Russia. The 1100delC allele was detected in 14/660 (2.1%) unilateral BC cases and in 8/155 (5.2%) patients with the bilateral form of the disease, but only in 1/448 (0.2%) middle-aged control females and in none of 373 elderly tumor-free women. The obtained data point at potentially high clinical relevance of CHEK2 1100delC testing in females of Russian origin and warrant similar case-control studies in ethnically and geographically related regions, especially in Ukraine, Belarus and Baltic countries.

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References

  1. Bartek J, Lukas J (2003) Chk1 and Chk2 kinases in checkpoint control and cancer. Cancer Cell 3:421–429

    Article  PubMed  CAS  Google Scholar 

  2. Meijers-Heijboer H, van den Ouweland A, Klijn J, Wasielewski M, de Snoo A, Oldenburg R, Hollestelle A, Houben M, Crepin E, van Veghel-Plandsoen M, Elstrodt F, van Duijn C, Bartels C, Meijers C, Schutte M, McGuffog L, Thompson D, Easton D, Sodha N, Seal S, Barfoot R, Mangion J, Chang-Claude J, Eccles D, Eeles R, Evans DG, Houlston R, Murday V, Narod S, Peretz T, Peto J, Phelan C, Zhang HX, Szabo C, Devilee P, Goldgar D, Futreal PA, Nathanson KL, Weber B, Rahman N, Stratton MR (2002) CHEK2-Breast Cancer Consortium: low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 31:55–59

    Article  PubMed  CAS  Google Scholar 

  3. Vahteristo P, Bartkova J, Eerola H, Syrjakoski K, Ojala S, Kilpivaara O, Tamminen A, Kononen J, Aittomaki K, Heikkila P, Holli K, Blomqvist C, Bartek J, Kallioniemi OP, Nevanlinna H (2002) A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. Am J Hum Genet 71:432–438

    Article  PubMed  CAS  Google Scholar 

  4. Offit K, Pierce H, Kirchhoff T, Kolachana P, Rapaport B, Gregersen P, Johnson S, Yossepowitch O, Huang H, Satagopan J, Robson M, Scheuer L, Nafa K, Ellis N (2003) Frequency of CHEK2*1100delC in New York breast cancer cases and controls. BMC Med Genet 4:1

    Article  PubMed  Google Scholar 

  5. Caligo MA, Agata S, Aceto G, Crucianelli R, Manoukian S, Peissel B, Scaini MC, Sensi E, Veschi S, Cama A, Radice P, Viel A, Dȁ9Andrea E, Montagna M (2004) The CHEK2 c.1100delC mutation plays an irrelevant role in breast cancer predisposition in Italy. Hum Mutat 24: 100–101

    Article  PubMed  CAS  Google Scholar 

  6. CHEK2 Breast Cancer Case-Control Consortium (2004) 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

    Article  Google Scholar 

  7. Osorio A, Rodriguez-Lopez R, Diez O, de la Hoya M, Ignacio Martinez J, Vega A, Esteban-Cardenosa E, Alonso C, Caldes T, Benitez J (2004) The breast cancer low-penetrance allele 1100delC in the CHEK2 gene is not present in Spanish familial breast cancer population. Int J Cancer 108:54–56

    Article  PubMed  CAS  Google Scholar 

  8. Gorski B, Cybulski C, Huzarski T, Byrski T, Gronwald J, Jakubowska A, Stawicka M, Gozdecka-Grodecka S, Szwiec M, Urbanski K, Mitus J, Marczyk E, Dziuba J, Wandzel P, Surdyka D, Haus O, Janiszewska H, Debniak T, Toloczko-Grabarek A, Medrek K, Masojc B, Mierzejewski M, Kowalska E, Narod SA, Lubinski J (2005) Breast cancer predisposing alleles in Poland. Breast Cancer Res Treat 92:19–24

    Article  PubMed  CAS  Google Scholar 

  9. Kleibl Z, Novotny J, Bezdickova D, Malik R, Kleiblova P, Foretova L, Petruzelka L, Ilencikova D, Cinek P, Pohlreich P(2005) The CHEK2 c.1100delC germline mutation rarely contributes to breast cancer development in the Czech Republic. Breast Cancer Res Treat 90:165–167

    Article  PubMed  CAS  Google Scholar 

  10. Rashid MU, Jakubowska A, Justenhoven C, Harth V, Pesch B, Baisch C, Pierl CB, Bruning T, Ko Y, Benner A, Wichmann HE, Brauch H, Hamann U (2005) GENICA Network: German populations with infrequent CHEK2*1100delC and minor associations with early-onset and familial breast cancer. Eur J Cancer 41:2896–2903

    Article  PubMed  CAS  Google Scholar 

  11. Buslov KG, Iyevleva AG, Chekmariova EV, Suspitsin EN, Togo AV, Kuligina ESh, Sokolenko AP, Matsko DE, Turkevich EA, Lazareva YR, Chagunava OL, Bit-Sava EM, Semiglazov VF, Devilee P, Cornelisse C, Hanson KP, Imyanitov EN (2005) NBS1 657del5 mutation may contribute only to a limited fraction of breast cancer cases in Russia. Int J Cancer 114:585–589

    Article  PubMed  CAS  Google Scholar 

  12. Sodha N, Williams R, Mangion J, Bullock SL, Yuille MR, Eeles RA (2000) Screening hCHK2 for mutations. Science 289:359

    Article  PubMed  CAS  Google Scholar 

  13. Broeks A, de Witte L, Nooijen A, Huseinovic A, Klijn JG, van Leeuwen FE, Russell NS, vanȁ9t Veer LJ (2004) Excess risk for contralateral breast cancer in CHEK2*1100delC germline mutation carriers. Breast Cancer Res Treat 83:91–93

    Article  PubMed  CAS  Google Scholar 

  14. de Bock GH, Schutte M, Krol-Warmerdam EM, Seynaeve C, Blom J, Brekelmans CT, Meijers-Heijboer H, van Asperen CJ, Cornelisse CJ, Devilee P, Tollenaar RA, Klijn JG (2004) Tumour characteristics and prognosis of breast cancer patients carrying the germline CHEK2*1100delC variant. J Med Genet 41: 731–735

    Article  PubMed  Google Scholar 

  15. Meijers-Heijboer H, Wijnen J, Vasen H, Wasielewski M, Wagner A, Hollestelle A, Elstrodt F, van den Bos R, de Snoo A, Fat GT, Brekelmans C, Jagmohan S, Franken P, Verkuijlen P, van den Ouweland A, Chapman P, Tops C, Moslein G, Burn J, Lynch H, Klijn J, Fodde R, Schutte M (2003) The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype. Am J Hum Genet 72:1308–1314

    Article  PubMed  CAS  Google Scholar 

  16. Oldenburg RA, Kroeze-Jansema K, Kraan J, Morreau H, Klijn JG, Hoogerbrugge N, Ligtenberg MJ, van Asperen CJ, Vasen HF, Meijers C, Meijers-Heijboer H, de Bock TH, Cornelisse CJ, Devilee P (2003) The CHEK2*1100delC variant acts as a breast cancer risk modifier in non-BRCA1/BRCA2 multiple-case families. Cancer Res 63:8153–8157

    PubMed  CAS  Google Scholar 

  17. Johnson N, Fletcher O, Naceur-Lombardelli C, dos Santos Silva I, Ashworth A, Peto J (2005) Interaction between CHEK2*1100delC and other low-penetrance breast-cancer susceptibility genes: a familial study. Lancet 366: 1554–1557

    Article  PubMed  CAS  Google Scholar 

Download references

Acknowledgements

This work was supported by INTAS (grant 03-51-4234), RFBR (grant 05-04-49774), Government of Moscow (grant 06-15). We are grateful to Dr. Olga Sinilnikova (IARC, Lyon, France) for providing control DNA samples. We also thank Mrs. Olga S. Yatsuk, Olga A. Zaitseva and Liudmila V. Rikunova for their technical assistance.

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Authors and Affiliations

  1. N.N. Petrov Institute of Oncology, St.-Petersburg, Russia

    Elena V. Chekmariova, Anna P. Sokolenko, Konstantin G. Buslov, Aglaya G. Iyevleva, Yulia M. Ulibina, Maxim E. Rozanov, Natalia V. Mitiushkina, Alexandr V. Togo, Dmitry E. Matsko, Dmitry A. Voskresenskiy, Vladimir F. Semiglazov & Evgeny N. Imyanitov

  2. Center of Mammology, St.-Petersburg, Russia

    Oleg L. Chagunava

  3. Leiden University Medical Center, Leiden, The Netherlands

    Peter Devilee & Cees Cornelisse

  4. N.N. Petrov Institute of Oncology, Pesochny-2, 197758, St.-Petersburg, Russia

    Evgeny N. Imyanitov

Authors
  1. Elena V. Chekmariova
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  2. Anna P. Sokolenko
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  3. Konstantin G. Buslov
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  4. Aglaya G. Iyevleva
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  5. Yulia M. Ulibina
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  6. Maxim E. Rozanov
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  7. Natalia V. Mitiushkina
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  8. Alexandr V. Togo
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  9. Dmitry E. Matsko
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  10. Dmitry A. Voskresenskiy
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  11. Oleg L. Chagunava
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  12. Peter Devilee
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  13. Cees Cornelisse
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  14. Vladimir F. Semiglazov
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  15. Evgeny N. Imyanitov
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Corresponding author

Correspondence to Evgeny N. Imyanitov.

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Chekmariova, E.V., Sokolenko, A.P., Buslov, K.G. et al. CHEK2 1100delC mutation is frequent among Russian breast cancer patients. Breast Cancer Res Treat 100, 99–102 (2006). https://doi.org/10.1007/s10549-006-9227-7

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  • DOI: https://doi.org/10.1007/s10549-006-9227-7

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