Monday, January 11, 2016

Li-Fraumeni Syndrome: Did you know there's more to learn from genetic testing than just BRCA1/2?



 I frequently find myself scouring the internet in hopes of finding one woman or man, someone who has been (sort of) in my shoes so I can relate to their story. Someone who knows what I feel like right now.  The research is so new, the reports haven't all been written, no stats have really been confirmed, but thanks to God we have an understanding of this syndrome that literally predisposes a carrier to upwards of a 93% LIFETIME cancer risk. I'm not just talking about Breast Cancer. I am talking about several types of cancer that include breast, brain, colon, prostate, etc. Pretty scary to have something like this hanging over your head for my sister Stephanie, a mother of 2 who now will live in fear of illness for her or her school aged kids and how about my 24 year old daughter who went through with the testing only to discover that she too carries the dual gene mutations like me. My son has decided to test however does not want to know the outcome. He said he would do it for the family but would rather not know his fate at this point in his life. Its a tough nut to swallow and I am so proud yet really afraid for my daughter for taking this on at her age. Of course the silver lining is that we know. We know to start watching now. Not at 35 or even 25. We will certainly be vigilant and keep up on and be a part of this new research and also get involved with others who share the same future. This syndrome is very rare. I now know why it was so difficult to find others like me or me like them. 

Let me tell you what I mean. I can't recall if I've written about the Li-Fraumeni (LFS) or Li-Fraumeni Like (LFL) Syndrome that I have been diagnosed with. This means, right now in the VERY infant stages of research, if we were 100% like the statistics of this predisposed cancer syndrome, then I would have had a lifetime cancer risk of 93%. Let's just say that I never knew this prior to even my original breast cancer diagnosis in 2006. In 2008 when I went ahead with the genetic testing to determine if I carried the mutation in either BRCA1 or BRCA2 or even both, there was no mention of the other 21 genes so I never thought anything more about it. 

In 2014 I cheated on my oncologist for a second opinion and possibly a new treatment strategy and he immediately told me about this new genetic panel test they now suggest we take as a family with several cancer morbidities. After spitting into a couple of empty tubes and waiting 2 weeks for results, it was determined that I carry, both TP53 and CHEK2 gene mutations. The fact that I carry 2 mutations is rare in itself, however, Li-Fraumeni Syndrome reports show that just about 500 families in the US are registered with having this syndrome. 

After my sister was diagnosed with the same TP53 gene mutation as I was, she immediately made an appointment with the genetics department at Dana Farber in Boston and shares the following from her meeting:

 Dana Farber has been doing extensive research on “classical” cases of Li-Fraumeni in which all of the statistics and cancer risks were determined from this research.  Unfortunately, they had not realized that there were many people that had the gene mutation, yet did not follow the “classic” pattern of risk, or show signs of early onset cancers.  Now that the multi-panel gene testing is readily available and affordable to have done, they are uncovering more cases of the Li-Fraumeni-like (LFL) or “non-classical” cases of this mutation.  That’s the umbrella we fall into, and although Dana Farber is an amazing research facility, it depends upon donations and grants in order to complete certain genetic research.  Currently, a two year, whole-body MRI research study is underway, with hopes of raising enough money to begin a second study, those that are found to have the TP53 mutation will be eligible and placed on a waiting list. Any family (such as mine) that is affected by this syndrome will be taking part in the early days of this research to help identify the risks associated with Li-Fraumeni-like syndrome.

Here are links to more information. We’ve spent hours trying to digest what we can in order to get a better understanding of what we are facing. Our plan, led by Jeff,  is to get Alyssa seen by the genetics folks at MD Anderson in Houston since they too have research trials that we hope to get her involved in.  As we learn more in the next few weeks we will share more. 

As always, thank you all for the support and prayers and special juju. My entire family thanks you from the bottom of our hearts. 

The National Cancer Institute

The Li-Fraumeni Exploration (LiFE) Research Consortium




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