A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms' tumour is not a mutation carrier.
Varley, Jennifer McGown, Gail Thorncroft, Mary R White, Gavin R M Tricker, K J Kelsey, Anna M Birch, Jillian M Evans, D Gareth R
Varley, Jennifer
McGown, Gail
Thorncroft, Mary R
White, Gavin R M
Tricker, K J
Kelsey, Anna M
Birch, Jillian M
Evans, D Gareth R
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Abstract
We report a Li-Fraumeni syndrome family in which we have detected a splice acceptor mutation in intron 3 of TP53. The mutation affects one of the invariant residues at the splice acceptor site, as a result of which two aberrant transcripts are produced. A child with Wilms' tumour aged 3 years in this family was shown not to be a mutation carrier.
Description
Date
1998-10
Publisher
Collections
Keywords
Kidney Cancer
Tumour Suppressor Protein p53
Wilms Tumour
Tumour Suppressor Protein p53
Wilms Tumour
Type
Article
Citation
A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms' tumour is not a mutation carrier. 1998, 78 (8):1081-3 Br. J. Cancer