Germline p53 isoforms – causing familial cancer?
Back in 2017 we funded our first piece of research, in Dr Jean-Christophe Bourdon’s p53 lab at Dundee University.
This work evolved to explore the activity of what are called p53 isoforms. Part of that work ended up looking at a set of four Dutch families who had histories of repeated cancers but did not match any of the cancer-predispositions like LFS, Lynch Syndrome or others.
The pattern of cancer in these families showed that there was an inherited mutation somewhere, the behaviour was very much like LFS in that it was passed down through generations of these families.
On the other hand the pattern of cancer was also different from LFS – cancers occurred at older ages and there were none of the brain, sarcomas and other cancers that are common in LFS. The results of that are shown below, while you can read a full article on these findings on our website.