[PanP]

Hi. One of the members of our forum also has LFS and leiomysarcoma and has a lot of experience of treatments. I’ve alerted him to your post and hopefully he’ll be along to offer advice. Has there been any progress with your new oncology team? Have they suggested any treatment options?

Pan

[PanP]

I’m struggling to get my head round why it should take so long. A test costs something like £200 to the NHS, which really isn’t that high. I wonder if it’s possible to get the tests done privately?

[PanP]

To be honest I don’t think anyone’s done that specific piece of research. However, you’d expect that hormone dependent cancers would be at a higher risk of being influenced than TP53-dependent ones. Researchers have looked at the risk of breast and ovarian cancer in women with BRCA1 or BRCA2 mutations and not found an increased cancer risk after IVF. I see no reason why that should be different for TP53 mutation carriers.

Pan

[PanP]

I would be really pushy and get my GP to demand a test immediately. Waiting a year is ridiculous. And has anyone talked to your family about the SIGNIFY trial? This is about regular screening for LFS patients.

[PanP]

Why that long? What part of the country are you in?

[PanP]

Hi Sally. If the family history of cancer and the TP53 gene defect is on your side of the family and not on your partner’s, then your daughter should be fine.

In my case I don’t have the defect, it came from my first wife, so my son from my second marriage didn’t need to be tested.

Pan

[PanP]

Hi Wotsy,

That’s an interesting set of questions! Normally when someone has a TP53 gene test and it comes back with a diagnosis of LFS the particularly mutation will be listed so in families with multiple members carrying the diagnosis it should be possible to check that it’s the same mutation. Based on my understanding of the research, it normally is the same mutation that is passed down through the generations in a families.

In answer to your last question: most LFS patients are heterozygous – they have one normal and one mutated TP53 gene. There are some individuals who are homozygous (two mutated TP53 genes), but this is very rare (and it’s rare that someone with both genes mutated survives long enough to pass it on the descendants).

The other thing to note is that – as I understand it – most LFS patients do not have cancers where both copies of the TP53 gene are deleted or mutated. This is somewhat surprising, but it’s most likely that the mutated gene has some ‘gain of function’ that provides the tumours with survival advantages.

Can I ask what’s behind the questions? I’m intrigued.

Pan

[PanP]

I hadn’t really seen it like that. I think you’re right, so we’ll leave the forum open.

I still think it would be great if we could get a few more people posting on here regularly…

Pan

[PanP]

Hi Karen,

Thanks for the update. I’m glad you feel more at ease, and like you share the hope that we can move further towards a cure. At the moment the emphasis in LFS research seems mainly to do with improving scanning protocols, which is good but I want us to move beyond that. I’ve been working on my own research recently and hope to have something really positive to announce soon.

Pan

[PanP]

I think that you have right.

[PanP]

Welcome aboard.

I think your positive attitude is great and agree that LFS doesn’t necessarily have to be seen as a death sentence. I really think that as time goes on we will uncover strategies to massively reduce the cancer risk for LFS sufferers.

I also agree with you about David Servan-Schreiber’s book ([url=http://www.amazon.co.uk/exec/obidos/ASIN/0718156846/454]Anticancer: A New Way of Life[/url]), It’s really inspirational and contains a great mix of science, practical wisdom and interesting ideas.

I have to admit I’ve not really heard much about the diet you’re following. I think a healthy diet, especially a low-carb and anti-inflammatory diet, is a great idea for everyone, but especially those at heightened risk of developing cancer.

Pan

[PanP]

Sandra, that’s awful. But despite not being eligible for the trial, surely you can ask to have the same screening off-trial? Doctors can still ask for screening regardless of the trial.

It’s also been agreed that women with a high risk of breast cancer, and that includes women with LFS, should be eligible for Tamoxifen as a preventative measure. Have you asked about that?

[PanP]

Good luck – and keep us posted!

Pan

[PanP]

Screening really is a post code lottery in the UK. There is no generally adopted standard. Some clinics seem to do no screening at all, and in other places there’s an active screening program for LFS patients.

You might want to find out about the SIGNIFY trial and see if you can persuade your clinic to sign you up for it: http://www.anticancer.org.uk/2012/08/signify-new-uk-lfs-study.html

Some of the people on this forum have already been signed up for it.

[PanP]

Hi. I don’t think there is an oldest age really. There are some people with a TP53 mutation who go their whole lives without ever getting a cancer, and others, as you know from your own family, who are struck very early. We just can’t tell…

Are you in the UK?

Pan

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