IMGP4974
Li~Fraumeni syndrome
* To dale, germlineCHEK2 mutations have been reported in only a few familics with Li-Fraumeni syndrome or Li-Fraumeni-like syndrome. Missensc variants of uncertain ciinical significance have also been identified in ihe CHEK2gene (Beli 1999 , Vahteristo cl al 2001 j. lt rcmains ud'cłear whethcr CHEK2 mulations eonfcr cancer risks that differ from didsćibfaKfeciated^ath iBFSrS^OTUtations.
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