Journal
MOLECULAR CARCINOGENESIS
Volume 52, Issue 10, Pages 770-776Publisher
WILEY-BLACKWELL
DOI: 10.1002/mc.21912
Keywords
p53; Li-Fraumeni-like syndrome; splicing mutation
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Funding
- Ministry of Health, Labor, and Welfare, (Japan) [19-9]
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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. (c) 2012 Wiley Periodicals, Inc.
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