Article
Germ line BAX alterations are infrequent in Li-Fraumeni syndrome.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology - 1 Aug 2004
Barlow Jason W, Mous Marieke, Wiley Joe C, Varley Jennifer M, Lozano Guillermina, Strong Louise C, Malkin David
Abstract excerpt
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...
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