The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype-Reference-Cited by-同舟云学术

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

Published:2009-02-17 Issue:1 Volume:7 Page:
ISSN:1897-4287
Container-title:Hereditary Cancer in Clinical Practice
language:en
Short-container-title:Hered Cancer Clin Pract

Author:

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

Abstract

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.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Oncology

Link

http://link.springer.com/content/pdf/10.1186/1897-4287-7-4.pdf

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