Draft TP53 Leaflet

[PanP]

Hi All,

I think a lot of people agree that there’s a need for a simple non-specialist introduction to LFS that people can print off and give to doctors, nurses, health visitors etc. Something easy to read but with the core information all in one package. I’ve drafted the outline of something that can be the basis of this and would like some feedback. Obviously the finished product would be prettied up with some graphics and a logo and then published as a PDF for people to share or print off. But for now here’s my draft text:

[quote]What is Li Fraumeni Syndrome (LFS)?
Li Fraumeni Syndrome is a rare genetic condition associated with damage to a particular gene called TP53. LFS, and other TP53-related disorders, can be passed down through families, or it can occur in a single individual (when it is called a de novo mutation). People who have a damaged TP53 gene are highly prone to developing cancer, and it is not uncommon for these cancers to develop in childhood or adolescence. In families with LFS it is not uncommon for there to be an extensive history of cancer from generation to generation.

Individuals with LFS are prone to develop some of the rarer forms of cancer, particularly sarcomas and adrenocortical carcinoma, as well as early onset breast cancer, as well as more common forms of the disease.

What is TP53?
TP53 is a gene that codes for the p53 protein. The p53 protein acts as a tumour suppressor – it is involved in the body’s response to mutated or damaged cells. It helps trigger the destruction of potentially cancerous cells, but when p53 is lacking or is itself damaged, this clean-up does not take place. This can lead to the development of cancer.

How are LFS and other TP53-related conditions diagnosed?
LFS and other TP53-gene disorders can only be diagnosed by a DNA test. Normally a test is triggered because a number of criteria are met –such as developing a rare form of cancer below a certain age, having developed two or more primary cancers. Sometimes it is diagnosed when a whole family is screened because a relative has been diagnosed with it. The full criteria for triggering a test are detailed on the George Pantziarka TP53 Trust website (https://www.tp53.co.uk).

Are there treatments for LFS and other TP53-related conditions?
There are currently no specific treatments for genetic conditions such as LFS. When an LFS patient develops cancer the treatment should be the same as for other patients – however care must be taken with treatments that can cause DNA damage (such as radiotherapy) as this may cause subsequent problems.

Day to day
Because the cancer risk for people with TP53-related conditions is so high it is essential that they are fast-tracked for assessment if they present with symptoms. Although active surveillance, such as regular MRI breast examinations, is recommended, but the best policy is to take act quickly on all suspicious health changes and symptoms. Where possible non-radiological methods of scanning, such as MRI and ultrasound, should be used in order to minimise the risks of DNA damage.[/quote]

What I need to know is what’s missing, what’s unclear and if it’s too simplistic or too complicated…

Pan

[Despina]

I think its good, clear and got all the basic information but there’s nothing on there from a doctor. I think if people take it to their doctors they might not take it seriously because its not verified. Is there a way to get one of the doctors you are in contact with to put a quote on it or something? Just to show that it is backed up by people in medicine and its serious.

[Sue A]

Hi Pan,
I think the leaflet is a great idea. It’s exactly what I need for my initial meeting with our GP’s to inform them about LFS and the dangers of it to my family. Indeed, when I rang up to make an appointment, the doctor I spoke to had never heard of LFS. I have an appointment booked, but will only have 10-15 minutes to explain all about it (They would only give me a routine appt under my husbands name, not an actual meeting)….so the leaflet will be perfect, then they can go off and do their own research to clarify it. It stresses the urgency of quick referals which is what I need to get accross to my GPs. I do think that an endorsment of some sort from a doctor would be good and give added weight to the leaflet, but until then, I would be happy to use it. Is there any chance the finished product would be done by the 20th?!!! (Thats when my appt is).
Sue A

[pennysophia]

Hi all,

I’ve shown the draft to a few doctors at work ( I work in Harley Street) and they found the information really interesting. In fact none of them had heard of Li Fraumeni or TP53 before they read the leaflet, which highlights the importance of it!

[PanP]

Sue, I’ll make sure you have a copy before the 20th. And I’ll see if i can get a medic to give a seal of approval…

[PanP]

good point. I’ll see if I can sort that out.

[PanP]

thanks, Pen

[Sonja]

Hi Pan,
thanks a lot for preparing the leaflet! It is a great idea and I will definitly use it for my family and friends. I am so tired to explain it again and again and people very often forgot what I have been telling them before..I understand that this happens, but still it is a bit annoying. I think this leaflet will make it a bit easier for them, more concrete, more real. Something which is really THERE and cannot be talked away and forgotten easily.

I am wondering if from a medical point of view it is worth mentioning that the gene defect is located only on one of the DNA string. One of my first questions to the genetic counselor was: ” does this means, I do not have this tumour suppressor protein at all?” He explained, that if this were the case, I would rarely be able to live.
In most cases, damaged cells will be killed in LFS positive patients just like for everyone else, because the healthy DNA string procudes TP53. It is the so-called “second hit” which causes the problem, from what my current understanding is.
I am not sure if this would be too much detail. Just an idea.

Again many many thanks…I am looking forward to the final leaflet 🙂

Sonja

[PanP]

Thanks for the feedback, Sonja. i hope the leaflet will work in the situation you describe.

I think your point about damage to both copies of the TP53 gene is probably too detailed for the leaflet but we should add something on it to the FAQ.

Pan

[Karen]

Hi Pan

Yes I think the leaflet is clear and well explained, I agree that medical verification would be useful and maybe a point of contact eg local genetics clinic or Royal Marsden could be mentioned if they wish to obtain further information relating to the condition. I look forward to seeing the finished item.

Karen

[PanP]

The leaflet is now ready and has been published here: [url=https://www.tp53.co.uk/index.php/lfs-leaflet]https://www.tp53.co.uk/index.php/lfs-leaflet[/url]

I had been hoping to have had the text verified by now, but hopefully that’ll follow soon. I’ll do an update once that comes through.

Thanks all for your feedback. Obviously please let me know if you see any errors or have ideas of how we can improve on it. And, most important, please let everybody here know whether it works in practice (or not!)

[Author]

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