Show simple item record

dc.contributor.authorBarlow, Jason W
dc.contributor.authorMous, Marieke
dc.contributor.authorWiley, Joe C
dc.contributor.authorVarley, Jennifer
dc.contributor.authorLozano, Guillermina
dc.contributor.authorStrong, Louise C
dc.contributor.authorMalkin, David
dc.date.accessioned2009-08-21T10:19:07Z
dc.date.available2009-08-21T10:19:07Z
dc.date.issued2004-08
dc.identifier.citationGerm line BAX alterations are infrequent in Li-Fraumeni syndrome. 2004, 13 (8):1403-6 Cancer Epidemiol. Biomarkers Prev.en
dc.identifier.issn1055-9965
dc.identifier.pmid15298965
dc.identifier.urihttp://hdl.handle.net/10541/78135
dc.description.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.
dc.language.isoenen
dc.subjectTumour Suppressor Protein p53en
dc.subject.meshAlleles
dc.subject.meshCase-Control Studies
dc.subject.meshDNA Mutational Analysis
dc.subject.meshFemale
dc.subject.meshGene Frequency
dc.subject.meshGenetic Predisposition to Disease
dc.subject.meshGerm-Line Mutation
dc.subject.meshHumans
dc.subject.meshIncidence
dc.subject.meshLi-Fraumeni Syndrome
dc.subject.meshMale
dc.subject.meshPedigree
dc.subject.meshPolymorphism, Genetic
dc.subject.meshPrognosis
dc.subject.meshRisk Assessment
dc.subject.meshSampling Studies
dc.subject.meshTumor Suppressor Protein p53
dc.titleGerm line BAX alterations are infrequent in Li-Fraumeni syndrome.en
dc.typeArticleen
dc.contributor.departmentDivision of Oncology, Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.en
dc.identifier.journalCancer Epidemiology, Biomarkers & Preventionen
html.description.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.


This item appears in the following Collection(s)

Show simple item record