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.
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CITATION STYLE
Barlow, J. W., Mous, M., Wiley, J. C., Varley, J. M., Lozano, G., Strong, L. C., & Malkin, D. (2004). Germ line BAX alterations are infrequent in Li-Fraumeni syndrome. Cancer Epidemiology Biomarkers and Prevention, 13(8), 1403–1406. https://doi.org/10.1158/1055-9965.1403.13.8
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