• 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
Sproston A.R.M., Boyle J.M., Heighway J., Birch J.M., Scott D.
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
Williams K.J., Boyle J.M., Birch J.M., Norton J.D., Scott D.
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
Boyle J.M., Mitchell E.L.D., Greaves M.J., Roberts S.A., Tricker K., Burt E., Varley J.M., Birch J.M., Scott D.
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
Zhou P.-K., Sproston A.R.M., Marples B., West C.M.L., Margison G.P., Hendry J.H.
The radiosensitivity of human fibroblast cell lines correlates with residual levels of DNA double-strand breaks.
Radiother. Oncol. 47:271-276(1998)