Genetics – a double edged sword

I think that most people who are diagnosed with cancer must occasionally wonder what caused their disease. Of course it is generally not possible to be sure why most individual cancers occur, though as everyone knows there are many risk factors that significantly increase the chance of someone getting one or more forms of the illness. For LMS, however, there are actually very few known factors that increase risk.

Since my father died of cancer back in 2001 I have been aware that many of my relatives on that side of the family also had cancer. Last summer I had some testing done which confirmed that I have a genetic abnormality which massively increases cancer risk. I have a faulty copy of the TP53 gene. You probably haven’t heard of this gene but it is vital in preventing cancer; the gene produces the P53 protein which kills cells that have become cancerous.

Technically speaking this gene defect combined with my family history means that I have something called Li-Fraumeni syndrome (discovered by doctors Li and Fraumeni). Whilst people who have this syndrome are at increased risk of getting many forms of cancer there are some cancers that are particularly associated with the condition, sarcoma is one of these. It is likely then that my defective TP53 gene has played a significant role in the cause of my LMS. Luckily Li-Fraumeni syndrome is very rare, figures vary but it seems that there are only around 1,000 families worldwide that have actually been diagnosed as suffering from it.  

Whilst genetic factors sometimes explain the causes of cancer, genetics also provides a potentially exciting avenue through which cancer treatment may be improved. I was recently asked if I would be willing to take part in a research programme that is looking to collect the genetic profiles of one thousand individuals suffering from Sarcoma together with a history of the treatments they have had and how effective these have been. The hope is that the research may show that certain genetic characteristics can act as indicators as to which treatments might be most effective for an individual with a given genetic profile. The research is also looking for additional genetic markers that may indicate a higher risk of developing sarcoma.

I've spent quite a lot of time over the last year reading and learning about LMS; it's really clear to me how little is known about this cancer and its treatment. It is great then to have the opportunity to participate in a research initiative that could possibly shed some more light on this disease and its treatment. Who knows, this research might even find something that can be useful in my own treatment.