Significance of intron 6 sequence variations in the TP53 gene in Li-Fraumeni syndrome

Many polymorphisms have been reported in the TP53 gene. Some of these are w ithin the coding region, and may affect the function of the p53 protein, ot hers are within introns or non-coding regions, and their significance is un clear. Recently, a number of publications have claimed that polymorphisms w ithin intron 6 are responsible for inherited predisposition to childhood ma lignancies, familial breast cancer, and Li-Fraumeni syndrome (LFS). We find no evidence for intron 6 sequence variants predisposing to LFS in our coho rt of families and, furthermore, we show that some of the conclusions of ot her groups cannot be supported by data from our analysis. (C) 2001 Elsevier Science Inc. All rights reserved.