Li-Fraumeni syndrome happens when something changes in the TP53 gene, which contains the instruction manual to make a protein called tumor protein 53, or P53. Your P53 protein is a tumor suppressor. It keeps your cells from dividing and growing too quickly or in an uncontrolled way, becoming tumors. When your TP53 gene changes, the P53 protein instruction manual changes as well, losing the how-to section for making P53. Without properly functioning P53 proteins, cells can divide uncontrolled and become cancers.
Most people with Li-Fraumeni syndrome inherited altered TP53 genes from one or both parents. But approximately 25% of people with the syndrome were born with an altered TP53 gene.
People with Li-Fraumeni syndrome often are very sensitive to radiation, which means your cancer treatment shouldn’t include any form of radiation therapy.
People with Li-Fraumeni syndrome are sensitive to radiation. That’s why breast cancer screenings don’t call for mammograms.
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Wishing1202
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Hello Wishing1202, I assume that you are asking if any of us CLLers have been diagnosed with Li-Fraumeni Syndrome. It will be interesting to see what responses you get, because it is probably a rare occurrence.
From what I have read, germline TP53 mutations are associated with a very wide range of cancers, but not CLL. In extensive searching I only found one report of CLL in a Li-Fraumeni Syndrome individual. I found no references to Li-Fraumeni Syndrome in any of the studies on Familial/Inherited CLL.
I was interested because we have had a high rate of cancers in our family over the past three years (4 out of 7 siblings). 2 with CLL, 1 bladder cancer, 1 osteoblastic osteosarcoma. We also develop multiple cancers.
The previous generation also had the same developments.
The reason I ask about the CLL/Li-Fraumeni Syndrome is because those with L-F are sensitive to radiation, and we know that exposure to radiation triggers other cancers.
That's why breast cancer screenings don't call for mammograms for those with L-I.
I never received a mammogram until 45. I had just 2 after that, and quit because I noticed all sorts of health issues: thyroid nodules, parathyroid tumor, intestinal issues, MGUS, and CLL.
My plan is to reduce radiation exposure as much as I medically am able.
Have you, or anyone else in your family been tested for Li-Fraumeni Syndrome? Do you know whether you have a germline p53 mutation?
One of my sisters recently tested positive for the Lynch Syndrome mutation, also a mutation that predisposes one to cancer, and it was recommended that I along with our two other siblings be tested. My results came back negative for the mutation, my siblings are waiting to get their results.
I'm the first to question L-F Syndrome due to my genetic markers. I'm considering having the DNA testing. My CLL specialist sees no need in it, but I do be sure it's important to know that radiation can increase the chance of cancers. I want my children to be aware of it.
It would seem so, yet my brother was diagnosed with a childhood cancer of the bone at 57. Doctors were baffled. After chemo, partial leg removal, followed by another round of chemo, he now has only months to live.
I am so sorry to hear about that. Did he have this cancer all his life and yet made it to 57 years old? That certainly counts as a miracle of some kind.
Li-Fraumeni syndrome (lee-FRAH-meh-nee) is a rare hereditary or genetic disorder that increases the risk you and your family members will develop cancer. People who are female at birth who have Li-Fraumeni syndrome have a nearly 100% chance of developing breast cancer. All people who have Li-Fraumeni syndrome have a 90% chance of developing one or more types of cancer in their lifetimes and a 50% chance of developing cancer before age 30.
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