2.50
Hdl Handle:
http://hdl.handle.net/10541/78135
Title:
Germ line BAX alterations are infrequent in Li-Fraumeni syndrome.
Authors:
Barlow, Jason W; Mous, Marieke; Wiley, Joe C; Varley, Jennifer; Lozano, Guillermina; Strong, Louise C; Malkin, David
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.
Affiliation:
Division of Oncology, Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.
Citation:
Germ line BAX alterations are infrequent in Li-Fraumeni syndrome. 2004, 13 (8):1403-6 Cancer Epidemiol. Biomarkers Prev.
Journal:
Cancer Epidemiology, Biomarkers & Prevention
Issue Date:
Aug-2004
URI:
http://hdl.handle.net/10541/78135
PubMed ID:
15298965
Type:
Article
Language:
en
ISSN:
1055-9965
Appears in Collections:
All Paterson Institute for Cancer Research

Full metadata record

DC FieldValue Language
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.en
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

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