P. Lalle et al., LACK OF GERM-LINE MUTATIONS IN THE P53 GENE EXON-4 TO EXON-8 IN PATIENTS WITH LATE-ONSET 2ND MALIGNANT NEOPLASMS, Cancer genetics and cytogenetics, 76(2), 1994, pp. 148-150
Previous studies have shown p53 germ-line mutations in some familial c
ancer aggregations with or without the Li-Fraumeni syndrome (LFS). Suc
h mutations were also reported in children and young adults with secon
d malignant neoplasms (SMN). This led us to screen for p53 germ-line m
utations in a group of seven patients affected with SMN, but character
ized by an older age of onset than in the previous reports. No mutatio
n was found in exons 4 to 8 and their boundaries using the single-stra
nd conformation polymorphism technique. Our results give strong eviden
ce for genetic heterogeneity of SMN, probably related to the age of ca
ncer onset.