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.
Similar content being viewed by others
References
P Vahteristo J Bartkova H Eerola K Syrjakoski S Ojala O Kilpivaara et al. (2002) ArticleTitleA CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer Am J Hum Genet 71 432–438
O Kilpivaara P Vahteristo J Falck K Syrjakoski H Eerola D Easton et al. (2004) ArticleTitleCHEK2 variant I157T may be associated with increased breast cancer risk Int J Cancer 111 543–547
H Meijers-Heijboer J Wijnen H Vasen M Wasielewski A Wagner A Hollestelle et al. (2003) ArticleTitleThe CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype Am J Hum Genet 72 1308–1314
A Broeks L Witte Particlede A Nooijen A Huseinovic JG Klijn FE Leeuwen Particlevan et al. (2004) ArticleTitleExcess risk for contralateral breast cancer in CHEK2*1100delC germline mutation carriers Breast Cancer Res Treat 83 91–93
P Pohlreich J Stribrna Z Kleibl M Zikan R Kalbacova L Petruzelka et al. (2003) ArticleTitleMutations of the BRCA1 gene in hereditary breast and ovarian cancer in the Czech Republic Med Princ Pract 12 23–29
L Foretova E Machackova M Navratilova H Pavlu M Hruba M Lukesova et al. (2004) ArticleTitleBRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic Hum Mutat 23 397–398
N Sodha RS Houlston R Williams MA Yuille J Mangion RA Eeles (2002) ArticleTitleA robust method for detecting CHK2/RAD53 mutations in genomic DNA Hum Mutat 19 173–177
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.
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
MR Dufault B Betz B Wappenschmidt W Hofmann K Bandick A Golla et al. (2004) ArticleTitleLimited relevance of the CHEK2 gene in hereditary breast cancer Int J Cancer 110 320–325
T Ohayon I Gal RG Baruch C Szabo E Friedman (2004) ArticleTitleCHEK2*1100delC and male breast cancer risk in Israel Int J Cancer 108 479–480
C Cybulski T Huzarski B Gorski B Masojc M Mierzejewski T Debniak et al. (2004) ArticleTitleA novel founder CHEK2 mutation is associated with increased prostate cancer risk Cancer Res 64 2677–2679
MA Caligo S Agata G Aceto R Crucianelli S Manoukian B Peissel et al. (2004) ArticleTitleThe CHEK2 c.1100delC mutation plays an irrelevant role in breast cancer predisposition in Italy Hum Mutat 24 100–101
A Osorio R Rodriguez-Lopez O Diez HM dela MJ Ignacio A Vega et al. (2004) ArticleTitleThe 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
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Kleibl, Z., Novotny, J., Bezdickova, D. et al. The CHEK2 c.1100delC germline mutation rarely contributes to breast cancer development in the Czech Republic. Breast Cancer Res Treat 90, 165–167 (2005). https://doi.org/10.1007/s10549-004-4023-8
Issue Date:
DOI: https://doi.org/10.1007/s10549-004-4023-8