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Lee, S.B. et al.

Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome.

Li Fraumeni Syndrome (LFS) is a multicancer phenotype, most commonly associated with germ-line mutations in TP53. In a kindred with LFS without an inherited TP53 mutation, we have previously reported a truncating mutation (1100delC) in CHK2, encoding a kinase that phosphorylates p53 on Ser(20). Here, we describe a CHK2 missense mutation (R145W) in another LFS family. This mutation destabilizes the encoded protein, reducing its half-life from >120 min to 30 min. This effect is abrogated by treatment of cells with a proteosome inhibitor, suggesting that CHK2(R145W) is targeted through this degradation pathway. Both 1100delC and R145W germ-line mutations in CHK2 are associated with loss of the wild-type allele in the corresponding tumor specimens, and neither tumor harbors a somatic TP53 mutation. Our observations support the functional significance of CHK2 mutations in rare cases of LFS and suggest that such mutations may substitute for inactivation of TP53.[1]

References

Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome. Lee, S.B., Kim, S.H., Bell, D.W., Wahrer, D.C., Schiripo, T.A., Jorczak, M.M., Sgroi, D.C., Garber, J.E., Li, F.P., Nichols, K.E., Varley, J.M., Godwin, A.K., Shannon, K.M., Harlow, E., Haber, D.A. Cancer Res. (2001) [Pubmed]

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