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Hereditary Cancer in Clinical Practice
Published in: Hereditary Cancer in Clinical Practice 1/2009

Open Access 01-12-2009 | Research

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

Authors: Marielle WG Ruijs, Annegien Broeks, Fred H Menko, Margreet GEM Ausems, Anja Wagner, Rogier Oldenburg, Hanne Meijers-Heijboer, Laura J van't Veer, Senno Verhoef

Published in: Hereditary Cancer in Clinical Practice | Issue 1/2009

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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.
Appendix
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Metadata
Title
The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype
Authors
Marielle WG Ruijs
Annegien Broeks
Fred H Menko
Margreet GEM Ausems
Anja Wagner
Rogier Oldenburg
Hanne Meijers-Heijboer
Laura J van't Veer
Senno Verhoef
Publication date
01-12-2009
Publisher
BioMed Central
Published in
Hereditary Cancer in Clinical Practice / Issue 1/2009
Electronic ISSN: 1897-4287
DOI
https://doi.org/10.1186/1897-4287-7-4

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