Women with Li-Fraumeni Syndrome have close to 100% chance of developing cancer in their lifetime. About half of all these cancers develop before age 30 and about 50% of the risk is due to breast cancer. The risk of breast cancer by age 60 for women is 85%.  So, what’s a lady mutant to do?

Understand YOUR Risk.

Not everyone’s risk is the same. Meeting with a practitioner, ideally a Genetic Counselor familiar with LFS is a good way to get help assess your risk of cancer based on your mutation, family history and other factors. Understanding your risk can help you make screening and treatment decisions. Find a Genetic counselor at www.nsgc.org

Women with LFS tend to get breast cancer earlier than the normal population. The cancer risk in general is higher for certain cancers at certain age ranges.

  • 0-10 years- higher risk of Soft Tissue Sarcomas, Brain Tumors, and Adrenocortical Carcinoma
  • 11-20 years- higher risk for Bone Sarcomas
  • >20 years- higher risk for Breast and Brain Tumors

Know YOUR Body.

Just as one size jeans don’t fit everyone, neither do our genes- even within the same family. We do look at family history for trends, but we are all unique and rare and often our cancers are too. It’s important to not only do monthly self breast exams, but self exams. Know your body, what works and makes you feel your best and what doesn’t. Have any changes checked out by a professional. We usually follow a 2 week rule for lumps, bumps, and weirdisms- if it hasn’t resolved or gotten better in 2 weeks, it’s time to have a doctor take a look and go from there. Ignoring it doesn’t make it go away. We grow weird, not all of it is cancer. Just as you know what jeans feel the best, you know your body. If things are off or don’t feel right, it’s time to call and get an opinion of a clinician.


LFS is rare. You are even more rare. You get to make the calls on how you live YOUR best life. You get to make the calls about screening, about treatment, about your health. There are so many tough decisions in life, even tougher ones in dealing with Li-Fraumeni Syndrome. What to eat? How to avoid radiation? Should I have children? Should I have my children tested? What is that lump?

Learning Li-Fraumeni Syndrome

Learn as much as you can. Learn from doctors. Learn from reading. Learn from others. Learn about LFS. Learn about nutrition and radiation. Learn about cancer. Then tuck that knowledge away and hope you won’t need it and LIVE. Learn by living.  For You. There are many things we do not have any control over, but we can control us. We can’t control our feelings, we can control how we react to them. We can’t control IF we get cancer, but we CAN control how we navigate our risk. If the recommended screening is too much and adds too much stress to your life, finances, and sanity- talk with your provider. There are options. There is support.

Find your Tribe. Sometimes you can feel like you are on an island called LFS. You take trips to normal, but often are yanked back by screening, scanxiety, cancer. You are not alone. You are strong. Look at finding support as prophylactic action to prevent insanity. Your Tribe does not have to be LFS related(if you are looking for LFS support- please check out our support groups on Facebook. They are simply amazing). Find Support Here. Find what and who works for you.

The majority of our support groups are women. This represents not only the cancer risk associated with LFS in women, but how people deal differently. Although there are different risks associated with gender, coping is not age, gender, or cancer specific. Neither is living LFS.

More Reading on LFS:

LFS Gene Review:  https://www.ncbi.nlm.nih.gov/books/NBK1311/

Breast Cancer and TP53:  https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5790840/

Mosaic Mutants

Genetics are very complicated. There are so many factors that influence how we become who we are on the cellular level and beyond.

A good friend of mine always points out- there are many ways to make a family. Those of us in the support group learned that as we have become a family of misfit mutants. Yet even within our small numbers, there are the rare of the rare. I remember at the conference in Boston, talks turned to questions over the topic of mosaicism. There is no easy way to explain it, understand it or definitively peg it’s role in how Li-Fraumeni Syndrome is inherited or develops. We, as mutants are pretty used to chartering uncharted territories- so let’s give it a shot!

Art by Inge Vandormael. Coloring by Bella. Not all cells may have the TP53 mutation. Mosaicism is one of these cases.


Pretty tile murals? How I would like to tile the swimming pool I have in my dream home? Where a person has cells of different genetic make up? Yep, that is the one.

Genetic Mosaicism starts in the GERM cells (eggs and sperm).  It often is silent, meaning the mutation is there, but doesn’t produce the effect (cancer, in the case of LFS) in the person.  As the cells divide during pregnancy, a zygote (little pre-baby alien conglomerate of cells) forms and sometimes a mutation occurs. Depending on where and when this mutation occurs, this affects what percentage of all cells are mutated, and how many are mutated. If the mutation is early in development, many cells will be affected, if the mutation occurs later, fewer cells are affected.

So if a person has a TP53 mosaic mutation, some tissues (for example, it could be just skin, ovaries and breasts) may have the mutated gene, while others do not. The tissues that have the mutation will have a greater risk of developing cancer because p53’s job is to help suppress tumors, and mutant p53 doesn’t always do this properly.

Here is Wendy Kohlmann, MS, CGC, a licensed genetic counselor at the University of Utah Huntsman Cancer Institute, explaining mosaicism to LLFS board member Andi Last for the Learning Li-Fraumeni Syndrome podcast:


Generally, LFS is already on the doc’s radar if you’ve been referred for genetic testing. These times are where Geneticists and Genetic Counselors are worth their weight in gold! To test for LFS, we test for the TP53 mutation while considering family history.

Testing for TP53 mutations can be done several ways, but usually by blood test. If there is a known mutation in a family, they test for that mutation. If there is not, they do a multi-gene sequencing panel to try and find a mutation.  The blood can have cells with different chromosome make up, but this isn’t always the case. If the mutation is in the blood, there will be a certain percentage of changes.

To truly understand where the mutation is, we would have to test all the different cells in the body. That it a daunting and seemingly painful task. This is where the knowledgeable genetic professional becomes a HUGE asset. A geneticist will be able to help determine what testing is necessary and how to go about it for diagnosis.


Right, so here you are in the LFS club. Rarest of the Rare. You have an increased risk of cancer, you just don’t know where or when. No one with LFS knows. That’s why we screen. The benefit to identifying mosaicism is knowing that there is an increased risk, and you can potentially pass along the mutation to your children. Since people with mosaicism have fewer cells affected by the mutation, they tend to have less severe cases of LFS.

That’s not particularly helpful as far as screening goes, unless you know which tissues are affected. We can not yet predict how a mosaic TP53 mutation will affect mutants. But guess what? We can’t predict yet how a non-mosaic TP53 mutation will affect mutants either. Having an increased risk of cancer sucks, no matter what way you slice it.  This is why paying attention you your body, your gut and having a dedicated team will help you navigate these shark-infested waters.

Living LFS is a balance of advocacy and knowledge. Being rare does not mean you cannot get the best care – it means you are human. We are each unique. By knowing we have a rare mutation, we can do our best to fight cancer in a way our bodies can handle. Knowing what you are up against is your best chance at preparing.