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17 oktober 2010
Below you will find a nice explanation about Li-Fraumeni. The author is Amanda from the Huntsman organisation about a young women Amanda
We at Huntsman, we see lots of extraordinary people, and Morgan is no exception. When I see patients, I see everything that is right about them. In Morgan, I saw a bright, motivated young woman, and my job was to help her find the answer she was looking for: why she got cancer. When Morgan came to our genetics clinic due to her very early onset breast cancer, it prompted us to think about what may have caused her to have cancer in the first place. When we see individuals with cancer at such a young age, one of the first things we think about is a possible underlying genetic cause.
Our genes are the instructions that tell our body how to function. We have genes that determine our eye color and hair color, and many genes are very important in keeping us healthy. In fact, the main job of many of our genes is to keep us from getting cancer. When a person has an alteration in one of these important cancer prevention genes, he or she is at increased risk to get cancer. Someone might ask, “How do genetic alterations come about?” Sometimes genetic alterations are passed down through many generations, but other times genetic alterations just happen by chance when a sperm and egg come together. There is no way to prevent, cause, or predict whether these slight modifications will occur. In fact, every person probably has about 10 genetic alterations that put them at risk for some health issue. We just happen to know where one of Morgan’s alterations is, and it is in a gene called TP53.
TP53 is what we call a tumor suppressor gene. This gene is sometimes called The Gatekeeper of the Genome because it is so important in protecting us against cancer. Every person has two copies of this gene, one from Mom and one from Dad. Together the two copies are constantly working to protect our cells against cancer. Morgan was born with one copy of her TP53 gene in every cell of her body not working the way that it should. Basically, one copy is on permanent vacation and left the other copy to do all the work in warding off cancer. If the working copy quits in any cell, a cancer develops. Since we have these genes in every cell of our bodies, individuals with this genetic change are at risk for cancers virtually anywhere in the body. When we heard that Morgan has breast cancer now and had an adrenal tumor as a baby, we did a genetic test to look for a genetic alteration that would stop the gene from working the way that it should. When we did the test, we found the genetic change that caused Morgan to have the adrenal tumor and breast cancer. Interestingly, the only thing the gene affects is cancer risk; Morgan won’t have any other physical changes or health problems as a result of this genetic change. Individuals who have a TP53 alteration, like Morgan, have a condition called Li-Fraumeni syndrome.
Li-Fraumeni syndrome is just a fancy term for people who have a genetic change in the gene that Morgan does. Dr. Li and Dr. Fraumeni are physicians who first recognized that certain people have highly increased risks for multiple cancers, and the word “syndrome” just means a collection of features; in this case it is a collection of cancers. For Morgan, having Li-Fraumeni syndrome means that we know what caused her cancers, and it also means that we have to be particularly diligent in looking for possible other cancers throughout her lifetime. The risk of a third cancer is small (probably less than 5%), but even with a small risk we want to make sure we are taking care of Morgan in the best way we know how. If you Google Li-Fraumeni syndrome, try not to be worried; most of the statistics and information on the Web are somewhat outdated. At Huntsman, we have a set screening regimen that we offer to patients and have had wonderful success so far. Morgan will just have an extra day or two of doctor’s appointments each year. Otherwise once the breast cancer treatment is over, life should resume as it has always been!
There are lots of other kids in the country and in the world with Li-Fraumeni syndrome. While Li-Fraumeni is rare and you probably don’t know anyone else who has it, about 1 in every 20,000 people is thought to have the genetic change in the very same gene that Morgan does. Believe it or not, Morgan isn’t the youngest girl to have breast cancer, but she is among the few who have the strength, bravery, and maturity to tackle an “adult disease” at a young age. My job was to help Morgan find the cause of her cancer, and now that we have that information, our job at Huntsman is to take care of Morgan and protect her future, even if her genes are lying down on the job. Morgan is constantly in our thoughts and we are privileged to be a continuing resource for her as she completes this journey and beyond.
