Germ line BAX alterations are infrequent in Li-Fraumeni syndrome.
Barlow, Jason W Mous, Marieke Wiley, Joe C Varley, Jennifer Lozano, Guillermina Strong, Louise C Malkin, David
Barlow, Jason W
Mous, Marieke
Wiley, Joe C
Varley, Jennifer
Lozano, Guillermina
Strong, Louise C
Malkin, David
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Abstract
Multiple 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.
Description
Date
2004-08
Publisher
Collections
Keywords
Tumour Suppressor Protein p53
Type
Article
Citation
Germ line BAX alterations are infrequent in Li-Fraumeni syndrome. 2004, 13 (8):1403-6 Cancer Epidemiol. Biomarkers Prev.