Li-Fraumenie Syndrome

1. 25-fold increased risk of cancer
Li-Fraumeni Syndrome

2. What is cancer?
can·cer
• noun
• the disease caused by an uncontrolled division of abnormal cells in
a part of the body.
– a malignant growth or tumor resulting from the division of abnormal
cells.
• plural noun: cancers
• synonyms: malignant growth, cancerous
growth, tumor, malignancy.
– a practice or phenomenon perceived to be evil or destructive and hard
to contain or eradicate.

3. How is cancer treated?
Chemotherapy, Radiation are the best and first line of defense.
Chemical Substances and Radiation “Light Up” the mutated
cells and cause one of three things to happen.

4. Cell Repair
This means that the cell identifies it’s under attack and the
DNA inside the cell tells it to repair itself.

5. Apoptosis
“Cell Suicide”
This means that the cell identifies it’s under attack and the
DNA inside the cell tells it to commit suicide.

6. Cells continue to mutate
Cells continue to grow out of control and develop into cancer.

7. What is
Li-Fraumeni Syndrome?

8. Li-Fraumeni Syndrome
Li-Fraumeni is an extremely rare mutation of the p53 gene located in our
DNA and stops damaged cells from dividing. People with this syndrome
have a 25-fold increased risk of developing malignant tumors in young
adulthood. Once cancer is identified, the cancer cells are extremely
resistant to typical cancer treatments (Chemo & Radiation) because of the
original gene mutation. This syndrome is truly a double edged sword.

9. A very simplistic way to look at the function of the p53 gene would be to picture
yourself as the main plumbing valve (p53 valve) monitoring the water flow to a giant
building with a complex plumbing system. If you detect a water leak somewhere in
one of your pipes and your valve is "functioning properly," you would be able to
make a phone call to a plumber. The plumber or p21 protein could then come to
your building and either repair the pipe or remove it completely to stop the water
leak.
If you were unable to make the call because your p53 valve is damaged or mutated,
the plumber would not come and the leak would continue (cancer cells would
continue to divide) and eventually flood your home.

10. The p53 gene is the
Superman! of the
Gnome.

11. Li-fraumeni Syndrome odds of getting cancer.
For men with LFS: 69% For women with LFS: 93%
Mean age of onset: 40 yrs Mean age of onset: 29 yrs

12. Known families with Li-Fraumeni Syndrome world-wide.
There are only 400 families that are know to have the p53 mutated gene in
the DNA of their family lines.
7.5 billion people
5 members per family average
That means the odds of you having Li-fraumeni Syndrome is
1 in every 3,750,000 million people have the LFS p53 mutation.

13. Cost of Cancer on Families.
Forty years after the National Cancer Act launched the "war on cancer," the battle
is not just finding cures and better treatments, but also being able to afford them.
New drugs often cost $100,000 or more a
year.. Of the nation's 10 most expensive
medical conditions, cancer has the
highest per-person price. A recent
American Cancer Society survey found
that one-quarter of U.S. cancer patients
put off getting a test or treatment because
of cost.
Recent surveys say that half of patients spent less on food and clothes, and 43
percent borrowed money or used credit. Also, 26 percent did not fill a
prescription, 22 percent filled part of one and 20 percent took less than
prescribed.

14. Genetic Li-fraumeni Research
• Evaluating People with p53, Family
History
• Collecting Blood Samples for genetic
testing
• Continuing molecular/laboratory research
(using the biological samples we collect
from study participants) to learn about
disease mechanisms in LFS families, and to
increase our clinical knowledge related to
this complex disorder.
• Developing evidence-based information
on how to best care for people affected with
or at risk of LFS-related cancer.
• Striving to improve the overall survival and
quality of life for all persons with or at risk of
LFS-related malignancy.
Help Find a Cure!

15. Sword of Damocles
According to the story, pandering to
his king, Damocles exclaimed that,
as a great man of power and authority
surrounded by magnificence,
Dionysius was truly extremely
fortunate. Dionysius then offered to
switch places with Damocles, and
Damocles could taste that very
fortune firsthand. Dionysius arranged
that a huge sword should hang
above the throne, held at the
pommel only by a single hair of a
horse's tail. Damocles finally
begged the king that he be allowed to
depart because he no longer
wanted to be so fortunate, realizing
that with great fortune and power
come also great peril and anxiety.
Dionysius had successfully conveyed
a sense of the constant fear in
which the great man lives.

16. Elephants Never Get Cancer
Elephants have 25 different copies of the p53 gene

17. TitanTough21 is dedicated to
finding a genetic replacement for
the p53 gene.
We’re working and hoping to find
a new genetic
Superman!

18. In life you can’t just be Tough!
You have to be Titan Tough!