Other Gene Mutations
There are many other gene mutations which can increase risks of genetic cancer. Many of these have not been researched as thoroughly as BRCA, and may have been discovered a lot more recently. The medical advice given may differ depending on the gene mutation – so please speak to your doctor or genetic counsellor. Whilst advice may differ, if you are advised to have preventative surgeries, you may have a similar journey to our BRCA Buds, and that’s where we can help.
Below is a lil bit of information about LFS, this is written by one of our LFS Previvors and not a medical expert.
Li-Fraumeni Syndrome?
What is LFS?
Li-Fraumeni Syndrome is a mutation in your TP53 gene which produces a protein called P53. P53 was nicknamed ‘the guardian of the genome’ because it is essential for regulating DNA repair and cell division – AKA everything you need to stop those pesky tumours from growing!
So, if it’s so essential, what do I watch out for?
This is the tricky part, it’s pretty much all the cancers. I like to call it the B cancers mostly – blood, brain, bone and soft tissue and breast. However, this mutation also has a nasty habit of giving us some very rare and frightening cancers, especially in childhood. For a woman, the main worry is breast cancer.
What are the statistics?
A woman with LFS has an 84% chance of any cancer before the age of 45, but a man with LFS has a 41% chance. Can you guess why they’re so different? Yep. Boobs. Women with LFS have a tendency to develop very early onset breast cancers (the median age of diagnosis is 34).
Some estimate the breast cancer risk for women with LFS is 85% by age 60.
How did I get it?
Like our BRCA buddies, there is a 50% chance of inheriting the gene mutation from a parent who carries the gene mutation. ‘De novo’ mutants are the first in their family to present with the mutation.
Why should I get tested?
There are some very clear ‘red flags’ for a Li-Fraumeni test.
A close relative with breast cancer before the age of 32 is estimated to have a 5-8% chance of a TP53 mutation. Many people believe BRCA tests are the only tests needed and, although TP53 mutations are rare, they should always be considered.
Any sarcomas in the family especially before the age of 45.
Rare cancers such as rhabdomyosarcoma, adrenocortical carcinoma and choroid plexus tumours. Many of these occur in childhood.
How can they help me?
Mutants should be offered ‘The Toronto Protocol’ for screening. This includes (but is not limited to) annual whole body MRIs, annual dedicated breast MRIs, annual dermatological examinations and 3-4 monthly ultrasounds of the torso in children under 18. We are pushing for this more widely on the NHS.
That sounds like a lot of tests – isn’t it scary?
It sounds daunting to anyone newly diagnosed and it can seem frightening for a while afterwards, but people with LFS learn to slot it into their routine and we live productive lives around our screenings. For many of us, the screenings alleviate the anxiety of such high cancer risks.
There are a few organisations worldwide dedicated to helping people with LFS live full lives with support and there is a growing Instagram community ready to help when needed.