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
- Identification and characterization of two novel germ line p53 mutations in the non-LFS/non-LFL breast cancer families in Chinese population.
- Authors: Cao AY, Jin W, Shi PC, Di GH, Shen ZZ, Shao ZM
- Issue date: 2010 Jan
- TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes.
- Authors: Ruijs MW, Verhoef S, Rookus MA, Pruntel R, van der Hout AH, Hogervorst FB, Kluijt I, Sijmons RH, Aalfs CM, Wagner A, Ausems MG, Hoogerbrugge N, van Asperen CJ, Gomez Garcia EB, Meijers-Heijboer H, Ten Kate LP, Menko FH, van 't Veer LJ
- Issue date: 2010 Jun
- Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype.
- Authors: Olivier M, Goldgar DE, Sodha N, Ohgaki H, Kleihues P, Hainaut P, Eeles RA
- Issue date: 2003 Oct 15
- The TP53 gene promoter is not methylated in families suggestive of Li-Fraumeni syndrome with no germline TP53 mutations.
- Authors: Finkova A, Vazna A, Hrachovina O, Bendova S, Prochazkova K, Sedlacek Z
- Issue date: 2009 Aug
- The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families.
- Authors: Achatz MI, Olivier M, Le Calvez F, Martel-Planche G, Lopes A, Rossi BM, Ashton-Prolla P, Giugliani R, Palmero EI, Vargas FR, Da Rocha JC, Vettore AL, Hainaut P
- Issue date: 2007 Jan 8