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.
High levels of loss of distal markers on 17p13.3 in breast cancer suggested the presence within the region of at least one tumour-suppressor gene. Here we describe the derivation of two biallelic polymorphisms from the 17p telomeric yeast artificial chromosome (YAC) TYAC98. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and… (More)
Sir-In a study of constitutional restriction fragment length polymorphisms at the HRAS1 locus in patients with small cell (SCLC) and non-small cell cancer (NSCLC) of the lung and in a control group we reported earlier differences in the distribution of the common alleles between these three groups (Heighway et al., 1986). The main difference was a relative… (More)
PURPOSE Concerns about pain control in patients with cerebral palsy (CP) are especially anxiety provoking for parents, given the fact that spasticity, communication issues, and postoperative muscle spasms are significant problems that make pain control difficult in these patients. A better understanding of the magnitude and quality of the pain these… (More)
Constitutional frequency of rare alleles of c-Ha-ras in breast cancer patients Sir-Wyllie et al (1988) in a recent issue suggest, from their observations of c-Ha-ras restriction fragment length polymorphisms (RFLPs) in colorectal cancer, that the extremely high constitutional incidence of rare alleles in breast cancer patients (41% compared with a control… (More)