Journal
ONCOGENE
Volume 20, Issue 21, Pages 2647-2654Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/sj.onc.1204369
Keywords
TP53; Li-Fraumeni; splicing
Ask authors/readers for more resources
Germline TP53 splicing mutations have been described infrequently (>2%) in the literature, however in a series of 40 patients and families identified by our group in which there are germline TP53 mutations, seven affect splicing (18%), The low figure reported in the literature might reflect the method of mutation detection, which in many studies does not include all splice junctions, These data indicate that a significant proportion of TP53 germline mutations are currently unrecognized. We have carried out detailed studies of the effects of the different mutations on splicing, and see distinct variations in the effects of the same mutation in different patients, Furthermore we have identified the usage of a nonconsensus splice donor site in four families with an intron 4 splice donor mutation.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available