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Article

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

17 Feb 2009

Abstract excerpt

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...

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PMID: 19338683
DOI: 10.1186/1897-4287-7-4

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The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotypePMID 19338683Read ↗

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Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility.Semantic proximity Read ↗

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