• Mutation; HGNC; HGNC:11998; TP53; Simple; p.Arg248Trp (c.742C>T); ClinVar=VCV000012347; Zygosity=Unspecified (PubMed=8794843; PubMed=9018113; PubMed=9649131).
  

PubMed=8794843; DOI=10.1080/095530096145139
Anthony R.M. Sproston, John Michael Boyle, Jim Heighway, Jillian M. Birch, David Scott;
Fibroblasts from Li-Fraumeni patients are resistant to low dose-rate irradiation.
Int. J. Radiat. Biol. 70:145-150(1996)

PubMed=9018113; DOI=10.1038/sj.onc.1200838
Kaye J. Williams, John Michael Boyle, Jillian M. Birch, John D. Norton, David Scott;
Cell cycle arrest defect in Li-Fraumeni syndrome: a mechanism of cancer predisposition?
Oncogene 14:277-282(1997)

PubMed=9649131; DOI=10.1038/bjc.1998.364; PMCID=PMC2150396
John Michael Boyle, Erika L.D. Mitchell, Martin J. Greaves, Stephen A. Roberts, Katy Tricker, Emma Burt, Jennifer M. Varley, Jillian M. Birch, David Scott;
Chromosome instability is a predominant trait of fibroblasts from Li-Fraumeni families.
Br. J. Cancer 77:2181-2192(1998)

PubMed=9681890; DOI=10.1016/S0167-8140(97)00200-4
Ping-Kun Zhou, Anthony R.M. Sproston, Brian Marples, Catherine M.L. West, Geoffrey Paul Margison, Jolyon H. Hendry;
The radiosensitivity of human fibroblast cell lines correlates with residual levels of DNA double-strand breaks.
Radiother. Oncol. 47:271-276(1998)