Germ line BAX alterations are infrequent in Li-Fraumeni syndrome.
AuthorsBarlow, Jason W
Wiley, Joe C
Strong, Louise C
AffiliationDivision of Oncology, Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.
MetadataShow full item record
AbstractMultiple early-onset tumors, frequently associated with germ line TP53 mutations characterize the Li-Fraumeni familial cancer syndrome (LFS). LFS-like (LFS-L) families have lower rates of germ line TP53 alteration and do not meet the strict definition of LFS. This study examined 7 LFS cell lines and 30 LFS and 36 LFS-L primary leukocyte samples for mutations in the proapoptotic p53-regulated gene BAX. No germ line BAX mutations were found. A known BAX polymorphism was observed, yet there was no correlation between polymorphism frequency and TP53 status in either LFS or LFS-L. In summary, alterations of BAX are not responsible for cancers in TP53 wild-type LFS or LFS-L families.
CitationGerm line BAX alterations are infrequent in Li-Fraumeni syndrome. 2004, 13 (8):1403-6 Cancer Epidemiol. Biomarkers Prev.
JournalCancer Epidemiology, Biomarkers & Prevention
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