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Background   CHEK2  has previously been excluded as a major cause of Li-Fraumeni syndrome (LFS). One particular  CHEK2  germline mutation, c.1100delC, has been shown to be associated with elevated breast cancer risk. The prevalence of  CHEK2 *1100delC differs between populations and has been found to be relatively high in the Netherlands. The question remains nevertheless whether  CHEK2  germline mutations contribute to the Li-Fraumeni phenotype.    Methods  We have screened 65 Dutch  TP53 -negative LFS/LFL candidate patients for  CHEK2  germline mutations to determine their contribution to the LFS/LFL phenotype.    Results  We identified six index patients with a  CHEK2  sequence variant, four with the c.1100delC variant and two sequence variants of unknown significance, p.Phe328Ser and c.1096-?_1629+?del.    Conclusion  Our data show that  CHEK2  is not a major LFS susceptibility gene in the Dutch population. However,  CHEK2  might be a factor contributing to individual tumour development in  TP53 -negative cancer-prone families.

The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype