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

ABSTRACT: 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.

SUBMITTER: Ruijs MW 

PROVIDER: S-EPMC2664322 | biostudies-literature | 2009 Feb

REPOSITORIES: biostudies-literature

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

Ruijs Marielle W G MW   Broeks Annegien A   Menko Fred H FH   Ausems Margreet G E M MG   Wagner Anja A   Oldenburg Rogier R   Meijers-Heijboer Hanne H   van't Veer Laura J LJ   Verhoef Senno S  

Hereditary cancer in clinical practice 20090217 1

<h4>Background</h4>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.<h4>Methods</h4>We have screened 65 Dutch TP53-nega  ...[more]

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