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. 
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MILI UpdateMILI is now open at five sites - Oxford, Nottingham, Guy's & St Thomas', Cambridge and Aberdeen. On the way are Southampton, Leicester, Manchester and Edinburgh. Recruitment is picking up but we really need everybody who's asked to take part to join the study - regardless of whether you are randomly picked to get Metformin + screening or screening alone. It's vital for the study, and for us, to get as many people as possible to participate so we can learn whether or not metformin can reduce cancer risk. The latest on the national whole-body MRI roll-out for people with LFS and other cancer predisposition syndromes is that it is stuck somewhere in the NHS bureaucracy. It's so frustrating given that funds are there, a lot of the hard work has been done and we're just waiting for people to sign things off. This impacts things like MILI and the day to day access to whole-body MRI for families that are desperate for it. We are pushing as hard as we can and as soon as there's progress we'll let people know. Progress on the NHS national register for cancer predisposition is looking good. The aim is still to have the system up and running by April 2025. It will be a central register for all people with LFS - for the first time we'll have a place that records every single case of LFS in the UK. For once we'll be able to answer questions like - how many people with LFS are there in the UK? What's the geographical distribution? What's the age and gender profile? This would be a huge step forward - and one that we fully support. |
What's new with us?We've been working with a team at Oxford Cancer on a new project called MyTP53. This will be a portal/phone app that people with LFS would be able to access. It will be a place where people can record information about themselves - including things like information on diet, exercise, life-style etc. We all want to know how we can reduce cancer risk - but currently we have no idea about what works and what doesn't. A system like this will be a first step in collecting information that might help answer some of those questions. This is an exciting project that we are glad to be a part of. More info will be forthcoming as the project develops. LFS UK 2025 has a date! We'll be hosting our annual conference on Saturday 13th September, once again at International Student House in London. Watch this space for programme and tickets. We've also been supporting a project by a student with LFS called Natalie Wilson, who is looking for participants with LFS for her research. There are more details below - if you're interested in helping out, please contact Natalie at n.wilson2744@student.leedsbeckett.ac.uk 
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Meet the Trustees |
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In this section we'll get to know one of our trustees a little better - this time we're speaking to Despina Pantziarka.
How did you get involved at the Trust? I'm involved because my family created this Trust in honour of my brother. Having lost both my mum and my brother I feel I want to do my part to ensure information given to families in the future is more helpful and supportive than anything we received. What does your role at the Trust entail? My role is to code the newsletter into HTML each quarter so it's readable on the website. I help with the LFS conference we hold each year and I'm also on call for any other ad hoc help the Trust needs. What do you enjoy most about working with the Trust? Knowing we are really making a difference and supporting families. It's a stark contrast to the help we received back in the 90s! What is your greatest accomplishment? My greatest accomplishment is my daughter. She is a force to be reckoned with even at the age of 10! One day she will do great things and I can't wait to see it. What do you do in your spare time? I love to read! If I'm not ferrying my daughter to her many clubs then my head will be stuck in a book (I currently have a reading streak of 630 days in a row on kindle!) or I will be studying. I love to learn and have just signed up for another coding course to learn how to use the language SQL. Yes, I'm a geek. What are you reading at the moment? At the moment I am reading 'Harvest for the Reaper: a British murder mystery' by Jack Gatland. I would highly recommend this series! |
Maggie's Virtual Support Group
Maggie's Virtual Support Groups are still going ahead once a quarter - if you're interested in joining one of these then please do get in touch. All proceeds from sales will go to the George Pantziarka TP53 Trust. Either reply to this email or contact maggies.royalmarsden@maggiescentres.org The next meeting is taking place on Wednesday 15 January between 18:30 - 19:30. |
The trust survives thanks to your ongoing support - we couldn't do it without you.Feedback on this newsletter? Email press@tp53.org.uk or message us on social media:
George Pantziarka TP53 Trust |
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