Skip to main content

Advertisement

Log in

CHEK2 1100delC and male breast cancer in the Netherlands

  • Epidemiology
  • Published:
Breast Cancer Research and Treatment Aims and scope Submit manuscript

Abstract

Mutations in the breast cancer susceptibility genes BRCA1, BRCA2, and CHEK2 are known risk factors for female breast cancer. Mutations in BRCA1 and BRCA2 also are associated with male breast cancer (MBC). Similarly, it had been suggested in the original CHEK2 identification report that the CHEK2 1100delC mutation confers an increased risk for MBC. Here, we have evaluated the risk of CHEK2 1100delC for MBC by genotyping CHEK2 1100delC in 23 familial and 71 unselected Dutch MBC cases. None of the 23 familial MBC cases carried the CHEK2 1100delC mutation. In contrast, CHEK2 1100delC was present in 3 of the 71 (4.2%) unselected MBC cases, which was significantly more prevalent than the 1.1% Dutch population frequency assessed in 1,692 individuals (P = 0.05, OR = 4.1, 95% CI 1.2–14.3). Our data suggest that, in the Netherlands, CHEK2 1100delC is associated with an increased risk for MBC.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Weiss JR, Moysich KB, Swede H (2005) Epidemiology of male breast cancer. Cancer Epidemiol Biomarkers Prev 14:20–26. doi:10.1158/1055-9965.EPI-05-0414

    Article  PubMed  Google Scholar 

  2. Fentiman IS, Fourquet A, Hortobagyi GN (2006) Male breast cancer. Lancet 367:595–604. doi:10.1016/S0140-6736(06)68226-3

    Article  PubMed  Google Scholar 

  3. Nahleh Z, Girnius S (2006) Male breast cancer: a gender issue. Nat Clin Pract Oncol 3:428–437. doi:10.1038/ncponc0564

    Article  PubMed  Google Scholar 

  4. Meijers-Heijboer H, van den Ouweland A, Klijn J et al (2002) Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 31:55–59. doi:10.1038/ng879

    Article  PubMed  CAS  Google Scholar 

  5. Vahteristo P, Bartkova J, Eerola H et al (2002) A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. Am J Hum Genet 71:432–438. doi:10.1086/341943

    Article  PubMed  CAS  Google Scholar 

  6. Consortium CBCC-C (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. doi:10.1086/421251

    Article  Google Scholar 

  7. Choi DH, Cho DY, Lee MH et al (2008) The CHEK2 1100delC mutation is not present in Korean patients with breast cancer cases tested for BRCA1 and BRCA2 mutation. Breast Cancer Res Treat. doi:10.1007/5105490079878z

  8. Dufault MR, Betz B, Wappenschmidt B et al (2004) Limited relevance of the CHEK2 gene in hereditary breast cancer. Int J Cancer 110:320–325. doi:10.1002/ijc.20073

    Article  PubMed  CAS  Google Scholar 

  9. Evans DG, Bulman M, Young K et al (2007) BRCA1/2 mutation analysis in male breast cancer families from North West England. Fam Cancer 7:113–117. doi:10.1007/s10689-007-9153-9

    Article  PubMed  Google Scholar 

  10. Falchetti M, Lupi R, Rizzolo P et al (2008) BRCA1/BRCA2 rearrangements and CHEK2 common mutations are infrequent in Italian male breast cancer cases. Breast Cancer Res Treat 110:161–167. doi:10.1007/s10549-007-9689-2

    Article  PubMed  CAS  Google Scholar 

  11. Friedrichsen DM, Malone KE, Doody DR, Daling JR, Ostrander EA (2004) Frequency of CHEK2 mutations in a population based, case-control study of breast cancer in young women. Breast Cancer Res 6:R629–R635. doi:10.1186/bcr933

    Article  PubMed  CAS  Google Scholar 

  12. Jekimovs CR, Chen X, Arnold J et al (2005) Low frequency of CHEK2 1100delC allele in Australian multiple-case breast cancer families: functional analysis in heterozygous individuals. Br J Cancer 92:784–790. doi:10.1038/sj.bjc.6602381

    Article  PubMed  CAS  Google Scholar 

  13. Karhu R, Laurila E, Kallioniemi A, Syrjakoski K (2006) Large genomic BRCA2 rearrangements and male breast cancer. Cancer Detect Prev 30:530–534. doi:10.1016/j.cdp.2006.10.002

    Article  PubMed  CAS  Google Scholar 

  14. Neuhausen S, Dunning A, Steele L et al (2004) Role of CHEK2*1100delC in unselected series of non-BRCA1/2 male breast cancers. Int J Cancer 108:477–478. doi:10.1002/ijc.11385

    Article  PubMed  CAS  Google Scholar 

  15. Offit K, Pierce H, Kirchhoff T et al (2003) Frequency of CHEK2*1100delC in New York breast cancer cases and controls. BMC Med Genet 4:1. doi:10.1186/1471-2350-4-1

    Article  PubMed  Google Scholar 

  16. Ohayon T, Gal I, Baruch RG, Szabo C, Friedman E (2004) CHEK2*1100delC and male breast cancer risk in Israel. Int J Cancer 108:479–480. doi:10.1002/ijc.11603

    Article  PubMed  CAS  Google Scholar 

  17. Sodha N, Wilson C, Bullock SL, Phillimore H, Houlston RS, Eeles RA (2004) Analysis of familial male breast cancer for germline mutations in CHEK2. Cancer Lett 215:187–189. doi:10.1016/j.canlet.2004.07.002

    Article  PubMed  CAS  Google Scholar 

  18. Syrjakoski K, Kuukasjarvi T, Auvinen A, Kallioniemi OP (2004) CHEK2 1100delC is not a risk factor for male breast cancer population. Int J Cancer 108:475–476. doi:10.1002/ijc.11384

    Article  PubMed  Google Scholar 

  19. Meijers-Heijboer H, Wijnen J, Vasen H et al (2003) The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype. Am J Hum Genet 72:1308–1314. doi:10.1086/375121

    Article  PubMed  CAS  Google Scholar 

  20. Wasielewski M, Vasen H, Wijnen J et al (2008) CHEK2 1100delC is a susceptibility allele for HNPCC-related colorectal cancer. Clin Cancer Res 14:4989–4994. doi:10.1158/1078-0432.CCR-08-0389

    Article  PubMed  CAS  Google Scholar 

  21. Meijer-van Gelder ME, Look MP, Bolt-de Vries J, Peters HA, Klijn JG, Foekens JA (2001) Clinical relevance of biologic factors in male breast cancer. Breast Cancer Res Treat 68:249–260. doi:10.1023/A:1012221921416

    Article  PubMed  CAS  Google Scholar 

  22. Easton DF, Pooley KA, Dunning AM et al (2007) Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 447:1087–1093. doi:10.1038/nature05887

    Article  PubMed  CAS  Google Scholar 

  23. James JJ, Evans AJ, Pinder SE et al (2003) Bone metastases from breast carcinoma: histopathological–radiological correlations and prognostic features. Br J Cancer 89:660–665. doi:10.1038/sj.bjc.6601198

    Article  PubMed  CAS  Google Scholar 

  24. Smid M, Wang Y, Klijn JG et al (2006) Genes associated with breast cancer metastatic to bone. J Clin Oncol 24:2261–2267. doi:10.1200/JCO.2005.03.8802

    Article  PubMed  CAS  Google Scholar 

  25. Kilpivaara O, Laiho P, Aaltonen LA, Nevanlinna H (2003) CHEK2 1100delC and colorectal cancer. J Med Genet 40:e110. doi:10.1136/jmg.40.10.e110

    Article  PubMed  CAS  Google Scholar 

Download references

Acknowledgments

Funding was provided by the Dutch Cancer Society, grant DDHK 2003-2862, and the Netherlands Genomics Initiative (NGI)/Netherlands Organization for Scientific Research (NOW).

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Mieke Schutte.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Wasielewski, M., den Bakker, M.A., van den Ouweland, A. et al. CHEK2 1100delC and male breast cancer in the Netherlands. Breast Cancer Res Treat 116, 397–400 (2009). https://doi.org/10.1007/s10549-008-0162-7

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10549-008-0162-7

Keywords

Navigation