I am not diagnosed with LFS but am investigating the connection between TP53 Mutations in tumours and whether the type of mutation can indicate LFS or not.
If other mutations outside TP53 are also commonly found?
If testing of any tumors always show the same TP53 Mutations?
And lastly given there is 2 copies of the gene, whether it is common to have one mutated and one normal (wild type), one mutated and the other deleted, or both mutated? I searched through many resources like Covoco but did not find about this. If anyone can suggest me it would be great.
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.