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Germ Line BAX Alterations Are Infrequent in Li-Fraumeni Syndrome

¹ Division of Oncology, Hospital for Sick Children, and Departments of ² Medical Biophysics and ³ Pediatrics, University of Toronto, Toronto, Ontario, Canada; ⁴ Department of Medicine, University of Amsterdam, Amsterdam, the Netherlands; ⁵ CRC-UK Cancer Genetics Group, Paterson Institute for Cancer Research, Manchester, United Kingdom; and ⁶ Department of Molecular Genetics, University of Texas M.D. Anderson Cancer Center, Houston, Texas

Requests for reprints: David Malkin, Division of Oncology, Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada. Phone: 416-813-5348; Fax: 416-813-5327. E-mail: david.malkin{at}sickkids.ca

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.