Germ-Line Mutations of TP53 in Li-Fraumeni Families: An Extended Study of 39 Families

摘要: We have previously reported on the analysis of TP53 coding mutations in 12 classic Li-Fraumeni syndrome (LFS) families plus 9 that were Li-Fraumeni-like (LFL) (J. M. Birch et al., Cancer Res., 54: 1298-1304, 1994). Mutations found 6 LFS and 1 LFL families. now extended these studies to include an additional nine families, been detected eight three Six new described here are same as those identified other missense at codons 245, 248, 273 (in two families); a nonsense mutation codon 209; splice donor site exon 4. The five novel germ-line 136 344, 2-bp deletion within 191, acceptor intron 3, 167-bp part 1. In addition, we 175 family negative. To summarize all data from studied this our previous report 1994), 15 21 (71%) 4 18 (22%). These figures somewhat higher than by us others for frequency This could reflect 11 exons TP53, including noncoding regions, well use direct sequencing rather less-sensitive detection methods.