title: Genomic stability and wild-type p53 function of lymphoblastoid cells with germ-line p53 mutation.
abstract: Increased cancer risk associated with germ-line p53 mutation was linked to a deficit in the ability to maintain genomic stability. Accordingly, normal fibroblasts from cancer-prone individuals accumulate genomic aberrations with concomitant loss of wild-type p53 allele during in vitro culture. We tested whether such changes also occur in EBV-immortalized lymphoblastoid cells. Both normal and p53 germ-line mutant lymphoblastoid cells maintained functional p53 and genomic stability during long term in vitro culture. These unexpected differences between fibroblastic and lymphoblastic cells suggest that phenotypic expression of p53 deficiency is cell type specific. This could contribute to selective tissular localization of tumours observed in patients with Li-Fraumeni syndrome despite the presence of a mutant p53 allele in all cells.
authors.affiliation: Laboratoire d'oncologie moléculaire, INSERM CJF9302, Lyon, France.
authors.forename: P
authors.initials: P
authors.lastname: Lalle
authors.forename: C
authors.initials: C
authors.lastname: Moyret-Lalle
authors.forename: Q
authors.initials: Q
authors.lastname: Wang
authors.forename: J M
authors.initials: JM
authors.lastname: Vialle
authors.forename: C
authors.initials: C
authors.lastname: Navarro
authors.forename: B
authors.initials: B
authors.lastname: Bressac-de Paillerets
authors.forename: J P
authors.initials: JP
authors.lastname: Magaud
authors.forename: M
authors.initials: M
authors.lastname: Ozturk
mesh_terms: D000483:Alleles; D001402:B-Lymphocytes / Q000378:metabolism; D001943:Breast Neoplasms / Q000235:genetics* / Q000378:metabolism; D002460:Cell Line; D050759:Cyclin-Dependent Kinase Inhibitor p21; D016213:Cyclins / Q000378:metabolism*; D004249:DNA Damage; D016193:G1 Phase / Q000235:genetics; D016158:Genes, p53 / Q000502:physiology*; D006801:Humans; D007621:Karyotyping; D009154:Mutation; D016196:S Phase / Q000235:genetics; D014407:Tumor Cells, Cultured; D016159:Tumor Suppressor Protein p53 / Q000378:metabolism*
chemical_list: C493956:CDKN1A protein, human; D050759:Cyclin-Dependent Kinase Inhibitor p21; D016213:Cyclins; D016159:Tumor Suppressor Protein p53