A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms' tumour is not a mutation carrier.
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.
Varley
J M
JM
CRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Manchester, UK.
McGown
G
G
Thorncroft
M
M
White
G R
GR
Tricker
K J
KJ
Kelsey
A M
AM
Birch
J M
JM
Evans
D G
DG
D002675:Child, Preschool; D005091:Exons; D005260:Female; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics*; D016864:Li-Fraumeni Syndrome / Q000235:genetics*; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*; D009396:Wilms Tumor / Q000235:genetics*
D016159:Tumor Suppressor Protein p53