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.
Original language | English |
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Pages (from-to) | 1081-1083 |
Number of pages | 2 |
Journal | British Journal of Cancer |
Volume | 78 |
Issue number | 8 |
Publication status | Published - 1998 |
Keywords
- Li-Fraumeni syndrome
- Splicing
- TP53
- Wilms' tumour