References
Chekmariova EV, et al (2006) Chek2 1100delC mutation is frequent among Russian breast cancer patients. Breast Cancer Res. Treat (in press) Jun 7
Shieh SY, Ahn J, Tamai K, Taya Y, Prives C (2000) The human homologs of checkpoint kinases Chk1 and Cds1 (Chk2) phosphorylate p53 at multiple DNA damage-inducible sites. Genes Dev 14:289–300
Prives C, Hall PA (1999) The p53 pathway. J Pathol 187:112–126
Bell DW, et al (1999) Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. Science 286:2528– 2531
Meijers-Heijboer H, et al (2002) Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nature Genet 31:55–59
Osorio A, et al (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
Schutte M, et al (2003) Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility. Am J Hum Genet 72:1023–1028
Estivill X, Bancells C, Ramos C (1997) Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF mutation analysis consortium. Hum. Mutat 10(2):135–154
Acknowledgements
We are indebted to patients for participating in this study. We are also grateful to Noelia Viguera for her technical assistance. This work was supported by a grant number: 2003.11027, from the “Departamento de Sanidad del Gobierno Vasco”.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Martínez-Bouzas, C., Beristain, E., Guerra, I. et al. CHEK2 1100delC is present in familial breast cancer cases of the Basque Country. Breast Cancer Res Treat 103, 111–113 (2007). https://doi.org/10.1007/s10549-006-9351-4
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10549-006-9351-4