Hi Andrey. Lots of interesting questions there.
In terms of finding out about the range of TP53 mutations – both germline (as in LFS) or somatic (as in spontaneous cancers in people without LFS), have you looked at the IARC TP53 database? Take a look at the online database here: http://p53.iarc.fr/ It is also possible for someone to have a mutated TP53 gene and other mutated genes – for example TP53 and one of the BRCA genes – in which case the risk of cancer is even higher.
People with LFS are normally born heterozygous – which means that have one ‘normal’ copy of the TP53 gene (usually called ‘wild-type’ in medical papers), and one mutated copy. It’s thought that ‘loss of heterozygosity’ (i.e. losing the normal version of the gene) is a major step in the process of cancer formation in people with LFS.
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