TP53 and Li Fraumeni Syndrome

George was diagnosed with this first cancer, (embryonal rhabdomyosarcoma in the left temporalis muscle), on his second birthday. That was at Great Ormond Street Hospital, and it had taken us a long time to get him there. His mother, Gina, had died of metastatic ovaria cancer just ten months previously. Part of the delay in getting him diagnosed was the assumption that we were just being paranoid. The odds of him getting cancer so soon after his mother had died of it were assumed to be astronomical. When the diagnosis was finally made we were all stunned. Was it something to do with his mother’s illness? The doctors assured us that this was an unlucky (way, way, way unlucky) coincidence.

Fast forward to George at 15, and the discovery of a basal cell carcinoma during a routine and unrelated visit to the doctor. A second cancer, completely unrelated to what he had as a child. This time the explanation was that it was most likely a long term side-effect of the radiotherapy he had as a child.

Only a few months later George was diagnosed with osteosarcoma in the right side of his jaw (the mandible to be exact). A third cancer, and it had taken many weeks of going from doctor to doctor, hospital to hospital, to get it diagnosed, even though we knew there was something seriously wrong. How could it be that my son had three different cancers? One hypothesis at the time was that like the basal cell carcinoma, the osteosarcoma was a long term side effect of radiotherapy. However, the mystery was finally solved after having a genetic test of his TP53 gene. This is an important tumour suppressor gene, and in his case he had a specific defect that identified him as having classical Li Fraumeni Syndrome (LFS). Once his test result came in other members of the family were also tested and found to be not carrying the mutation – making it most likely that it came from his mother after all.

Miracle Cures

Beware Of False Prophets

It is tempting for cancer sufferers, and their friends and family, to look around at other treatment options, particularly if current treatments start to fail. In some cases people want to complement what they are getting from their oncology team – either because they want to lessen some of the horrendous side-effects of chemo or radiotherapy or because they want to boost the effectiveness of the protocol they are on. There are some people who simply don't want to go the conventional route – though this is a very high-risk strategy to adopt and is not one that is recommended (this is a topic that I will come back to in a future post). In other cases conventional treatments fail, the disease progresses or recurs, and there are few standard options available so the search for something new takes on a particular urgency. The first port of call for people in these different situations is the internet. And this too, can be dangerous, as you soon discover.

The last time I looked, the search term 'cancer cure' came up with 103,000,000 hits. Yep, 103 million hits. That is an unimaginably huge cache of information to process. And, unfortunately, a lot of that information is both dangerous and worthless. In our search for treatment options, (particularly once George's treatments started to fail), we came across plenty of sites that were offering miracle cures for cancer. No matter what type of disease, or at what stage, there were people out there who were promising to both treat and to cure. That alone should be setting alarm bells ringing in any sane person.

In general there are two distinct subsets of these promised cures, with some more credible looking than others.  On the one hand there are the promised cures that appear to be based on science and those that are decidedly, and in some cases proudly, unscientific.

How To Read A Cancer Paper - Part 1

By Pan Pantziarka

Intro – Why Write This?
Be prepared for a shock when you first start reading the literature on cancer. When you first dip your toe in the waters of Pubmed or other source you'll be struck by the vast number of papers that show how cancer cells are wiped out by this, that or other treatment. Whether it be plant polyphenols like curcumin or quercetin, or vitamins like C or D3, or medicinal mushrooms like Ganoderma Lucidum or... The list is endless, and so are the papers. Hundreds of them, in page after page you'll see results confirmed again and again. So why is it that cancer is still a problem? Why is it that curcumin or quercetin or EGCG or any of the other natural agents and food supplements haven't cured cancer? Because, if we believe all of these papers, then it should have been cured by now, the results are that clear. The answer is complex, and it isn't down to the fact Big Pharma has killed the research or drowned the scientists or any other favourite conspiracy theory.

This guide is aimed at the scientifically literate reader who isn't a medic or a biochemist. It's aimed at those patients and families who are undertaking to read the research directly in the hope of finding something useful. It's aimed at people who are in the situation I was in after my son's diagnosis (George was diagnosed with osteosarcoma of the mandible). I wanted to find out more about the disease, but I also read up on what we could do to support his treatment. Later, after treatment failed to halt the disease, it was because we were looking at what other options we had open to us. While I've got the scientific training (a PhD in machine learning), I was reading in a new area and without a background in medicine. The aim here is to provide a helping hand to other people in a similar situation in the hope that it will help in navigating a complicated and confusing area, particularly when the stakes are so high.

Book Review - Foods To Fight Cancer

A version of this review was first published at LondonBookReview.com

Title: Foods to Fight Cancer
Author: Richard Beliveau and Denis Gingras
Publisher: Dorling Kindersley
ISBN: 1405319151/0756628679

Cancer patients, and their friends and families, are often faced with contradictory information on what to do about diet. On the one hand there are large numbers of mainstream oncologists and dieticians who tell patients to eat what they like so long as they keep the calories up and are able to get through chemotherapy or radiotherapy. On the other hand there are plenty of people who insist that only a strict vegan or macrobiotic or Gerson or other anti-cancer diet will help. And of course there are lots of books out there that advocate all kinds of diets, all of them claiming to be based on some sort of science. Those looking for a middle ground based on solid science are left trying to work out for themselves what makes sense and what is obvious nonsense.

Foods To Fight Cancer looks like lots of other books in the 'superfoods' genre. It's glossy, well illustrated and published by Dorling Kindersly. It looks more coffee table than operating table. However, unlike many of the anti-cancer food books that are on the market this one is written by scientists working in the field of diet and cancer and who are not only up-to-date with the science but who are engaged in making it happen. It just so happens that Richard Beliveau and Denis Gingras are excellent communicators able to write for the non-scientist as well as their colleagues.

The central premise of the book is that dietary interventions can help tip the odds against developing cancer, and also to aid in fighting cancer once it has started. The plant kingdom contains thousands of phytochemicals - polyphenols, terpenes, sulphides etc - which have potent anti-cancer properties. These micro-nutrients act in multi-faceted ways to block many of the different biological pathways necessary for cancers to form, grow and then metastasize. Unlike some of the over-inflated claims made by some, there is no promise of a single all-powerful cancer cure here. Instead the emphasis is firmly on looking at what pathways are necessary for cancer to develop and then what can be done to block these using multiple compounds from different foods.

Introduction

The original idea for this website came out of a series of conversations with my son, George, about a year after his diagnosis with osteosarcoma of the mandible. By this point he had been through a number of treatments but the disease was still progressing, but he was pretty healthy and thinking about the future. We had learned a lot about cancer, treatments, and supplements and were still actively looking for new therapeutic options. We felt that we’d learned a lot that might be useful to other patients and their families and friends. A website was the obvious way of sharing this knowledge and we registered the domain name soon after.

George designed the logo and had lots of ideas. He wanted the site to be self-funding and hoped that it would also make money that he could put into his university fund, so he was keen that the site carries adverts. Lots of good ideas but nothing came of it at the time. Now, after his death at the end of April 2011, I am putting the site together to put into practice some of the things we talked about. Any money raised will be distributed to the charities that he supported.

The site will include commentary on cancer research, information on supplements and treatments, diet, details of George’s story, relevant book reviews, links to useful sites and other information that cancer sufferers may find useful.

Pan Pantziarka