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  • Title: Functional studies of a novel germline p53 splicing mutation identified in a patient with Li-Fraumeni-like syndrome.
    Author: Piao J, Sakurai N, Iwamoto S, Nishioka J, Nakatani K, Komada Y, Mizutani S, Takagi M.
    Journal: Mol Carcinog; 2013 Oct; 52(10):770-6. PubMed ID: 22495821.
    Abstract:
    Most p53 mutations identified in Li-Fraumeni syndrome (LFS) are missense mutations; splicing mutations have rarely been reported. A novel splicing p53 mutation was identified in a patient with Li-Fraumeni-like syndrome (LFL). Usually, p53 missense mutants identified in LFS and cancer cells function as dominant negative mutations interfering with wild-type p53 function. However, the mechanism by which p53 haploinsufficiency causes carcinogenesis is not well characterized. In this study, we describe a novel splicing mutation that results in the loss-of-function of p53. These findings suggest a linkage between the loss-of-function type p53 mutation and a LFL phenotype.
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