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[Cancer Research 61, 5718-5722, August 1, 2001]
© 2001 American Association for Cancer Research

Advances in Brief

p53, CHK2, and CHK1 Genes in Finnish Families with Li-Fraumeni Syndrome

Further Evidence of CHK2 in Inherited Cancer Predisposition1

Pia Vahteristo, Anitta Tamminen, Petteri Karvinen, Hannaleena Eerola, Carita Eklund, Lauri A. Aaltonen, Carl Blomqvist, Kristiina Aittomäki and Heli Nevanlinna2

Departments of Obstetrics and Gynecology [P. V., A. T., P. K., H. E., H. N.], Oncology [H. E.], and Medical Genetics [K. A.], Helsinki University Central Hospital, FIN-00029 Helsinki, Finland; Department of Medical Genetics, Helsinki University, FIN-00014 Helsinki, Finland [C. E., L. A. A.]; and Department of Oncology, Uppsala University Hospital, S-75185 Uppsala, Sweden [C. B.]

Germ-line mutations in the p53 gene predispose individuals to Li-Fraumeni syndrome (LFS). The cell cycle checkpoint kinases CHK1 and CHK2 act upstream of p53 in DNA damage responses, and recently rare germ-line mutations in CHK2 were reported in LFS families. We have analyzed CHK1, CHK2, and p53 genes for mutations in 44 Finnish families with LFS, Li-Fraumeni-like syndrome, or families phenotypically suggestive of LFS with conformation-sensitive gel electrophoresis. Five different disease-causing mutations were observed in 7 families (7 of 44 families; 15.9%): 4 in the p53 gene (5 of 44 families; 11.4%) and 1 in the CHK2 gene (2 of 44 families; 4.5%). Interestingly, the other CHK2-mutation carrier also has a mutation in the MSH6 gene. The cancer phenotype in the CHK2-families was not characteristic of LFS, and may indicate variable phenotypic expression in the rare families with CHK2 mutations. No mutations in the CHK1 gene were identified. Additional work is necessary to completely unravel the molecular background of LFS.




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Copyright © 2001 by the American Association for Cancer Research.