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25-fold increased risk of cancer 
Li-Fraumeni Syndrome
What is cancer? 
can·cer 
• noun 
• the disease caused by an uncontrolled division of abnormal cells in 
a part of the bod...
How is cancer treated? 
Chemotherapy, Radiation are the best and first line of defense. 
Chemical Substances and Radiation...
Cell Repair 
This means that the cell identifies it’s under attack and the 
DNA inside the cell tells it to repair itself.
Apoptosis 
“Cell Suicide” 
This means that the cell identifies it’s under attack and the 
DNA inside the cell tells it to ...
Cells continue to mutate 
Cells continue to grow out of control and develop into cancer.
What is 
Li-Fraumeni Syndrome?
Li-Fraumeni Syndrome 
Li-Fraumeni is an extremely rare mutation of the p53 gene located in our 
DNA and stops damaged cell...
A very simplistic way to look at the function of the p53 gene would be to picture 
yourself as the main plumbing valve (p5...
The p53 gene is the 
Superman! of the 
Gnome.
Li-fraumeni Syndrome odds of getting cancer. 
For men with LFS: 69% For women with LFS: 93% 
Mean age of onset: 40 yrs Mea...
Known families with Li-Fraumeni Syndrome world-wide. 
There are only 400 families that are know to have the p53 mutated ge...
Cost of Cancer on Families. 
Forty years after the National Cancer Act launched the "war on cancer," the battle 
is not ju...
Genetic Li-fraumeni Research 
• Evaluating People with p53, Family 
History 
• Collecting Blood Samples for genetic 
testi...
Sword of Damocles 
According to the story, pandering to 
his king, Damocles exclaimed that, 
as a great man of power and a...
Elephants Never Get Cancer 
Elephants have 25 different copies of the p53 gene
TitanTough21 is dedicated to 
finding a genetic replacement for 
the p53 gene. 
We’re working and hoping to find 
a new ge...
In life you can’t just be Tough! 
You have to be Titan Tough!
Li-fraumeni Syndrome
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Li-fraumeni Syndrome

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Li-Fraumenie Syndrome

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Li-fraumeni Syndrome

  1. 1. 25-fold increased risk of cancer Li-Fraumeni Syndrome
  2. 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. 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. 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. 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. 6. Cells continue to mutate Cells continue to grow out of control and develop into cancer.
  7. 7. What is Li-Fraumeni Syndrome?
  8. 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. 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. 10. The p53 gene is the Superman! of the Gnome.
  11. 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. 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. 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. 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. 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. 16. Elephants Never Get Cancer Elephants have 25 different copies of the p53 gene
  17. 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. 18. In life you can’t just be Tough! You have to be Titan Tough!

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