Table of Contents
1
UI - 12181637
AU - Trkova M; Hladikova M; Kasal P; Goetz P; Sedlacek Z
TI -
Is there anticipation in the age at onset of cancer in families with
Li-Fraumeni syndrome?
SO - J Hum Genet 2002;47(8):381-6
AD - Institute of Biology and Medical Genetics, Second Medical School,
Charles University, V uvalu 84, 15006 Prague 5, Czech Republic.
marie.trkova@LFMOTOL.cuni.cz
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.
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