Is there anticipation in the age at onset of cancer in families with Li-Fraumeni syndrome?
Anticipation in the age at onset of cancer in successive generations was described in several familial cancer syndromes. Based on multiple statistical analyses of a database of families with germline TP53 mutations, and using several different approaches and measures to eliminate possible biases, we show that anticipation may be a feature of the Li-Fraumeni syndrome. Definitive proof of anticipation in pedigrees with germline TP53 mutations will require more family data and further analysis, as well as research on the role of the p53 protein in processes like genome stability, which may represent the biological basis of anticipation in these families. This should have important practical implications for genetic testing, counselling, and preventative care for individuals at risk.
Institute of Biology and Medical Genetics, Second Medical School, Charles University, V uvalu 84, 15006 Prague 5, Czech Republic. marie.trkova@LFMOTOL.cuni.cz
Marie
M
Trkova
Marie
M
Hladikova
Pavel
P
Kasal
Petr
P
Goetz
Zdenek
Z
Sedlacek
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D020132:Anticipation, Genetic; D002648:Child; D005260:Female; D016158:Genes, p53; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation