“Li-Fraumeni is an error in the DNA, specifically in the P53 gene. This gene is a tumour-suppressing gene. When this gene is faulty, it increases the likelihood of harmful cancer cells developing.
Li-Fraumeni was discovered by two doctors, Dr. Li and Dr. Fraumeni, which is where the name Li-Fraumeni comes from.”
“First, there needs to be a suspicion of Li-Fraumeni in the family. However, you could also be the first (index) patient in whom Li-Fraumeni is discovered. If there is a suspicion, you can make an appointment with a familial tumour clinic, which you can find in larger hospitals.
In Amsterdam, the Antoni van Leeuwenhoek Hospital is an excellent option and is also a Li-Fraumeni expert ‘centre of excellence
If you qualify, they will have a consultation with you and create a family tree. They will then assess whether the suspicion is realistic. If it is, they will suggest testing. This involves a blood test. If the result is positive, a screening plan will follow.
“No one can force you to get tested. We provide the pros and cons of each decision here. By communicating honestly, you can come to a well-considered choice.
This isn’t just about you—it’s also about your family, your children, and future generations. Ignoring it is not wise. For anyone.
Seek advice from a clinical genetics centre or read through this website carefully.
We understand this is a difficult decision, but it’s one you can approach thoughtfully. We’d love to hear your opinion on the Forum—even if it’s completely different!”
Then you can make use of the screening (not mandatory, but highly recommended). The clinic where it was determined that you are a carrier can provide you with all the necessary information.
Are you struggling to process this? Psychosocial support is also available for that
No, it cannot. It stops if you are not a carrier. In that case, you also don’t need to worry about your children, grandchildren, etc.
It happens that carriers feel guilty toward their partner and children, but that’s not justified. There’s no point in convincing yourself to feel guilty. It won’t get you anywhere.
Instead, it’s better to focus your energy on understanding the situation and taking action accordingly
“Talking about it helps!
Most ‘Familial Tumor Clinics’ and ‘Clinical Genetics Centers’ have a psychologist or social worker who is well-informed about Li-Fraumeni Syndrome. By talking with them, many things become clearer. Don’t wait too long to seek help, especially if it’s negatively affecting your life. Truly, talking helps.
Li-Fraumeni Families Forum
Visit our Li-Fraumeni Syndrome Forum or our general Forum. It’s highly recommended if you want to join the conversation, share answers, or ask questions.”
If Li-Fraumeni is diagnosed in your partner, it might be a lot to take in at first. It’s important to talk about it with experts and those who have experience with it. This could be a clinical geneticist, social worker, or psychologist.
Try to find someone familiar with Li-Fraumeni Syndrome. They can explain it better and help you positively navigate everything. The future doesn’t have to be bleak—screening is key.
The diagnosis of Li-Fraumeni/Li-Fraumeni-like is too serious to ignore. Yet, only 40% ultimately choose to get tested. Certainly, there are many reasons why people don’t—partly due to a lack of understanding, partly because potential carriers prefer to turn a blind eye. But Li-Fraumeni also affects the future of our children and grandchildren. Experience shows that those who eventually get tested fare better. And it’s not just them—this also applies to future generations. I would say… Do it!
You can't avoid Li-Fraumeni syndrome (LFS) if you've inherited the mutated TP53 gene. The mutation is present in your DNA from birth. However, you can take steps to reduce your risk of developing cancers associated with LFS:
It’s important to understand that even with these precautions, individuals with LFS have a significantly increased risk of developing cancer compared to the general population. The focus is on early detection and treatment to improve outcomes.
This is only possible if you or your partner is a carrier of the Li-Fraumeni Syndrome. Until 2018, testing only took place when a child reached adulthood or requested it themselves. Now, it’s known from birth.
If a parent only learns they are a carrier, the advice will be to also have their children tested for Li-Fraumeni syndrome. If they are also affected, screening will be available to them as well.
No, it’s not possible to prevent your child from becoming a carrier of a genetic mutation associated with Li-Fraumeni syndrome (LFS) if you or your partner is a carrier. The mutation is in your genes and is passed on during conception. There is no way to control or change this.
You can consider prenatal diagnosis if you know you have an increased risk of having a child with LFS. This can be done, for example, through preimplantation genetic diagnosis (PGD) or amniocentesis.
However, even with these techniques, there is no guarantee that a child will not be a carrier, and the procedures themselves also carry risks.
Most importantly, it’s crucial to be well-informed about the genetic risks and the possibilities for prenatal diagnosis and family counselling. Discuss this with a geneticist or clinical geneticist. They can give you the best advice based on your specific situation.
Li-Fraumeni syndrome (LFS) presents significant challenges for parents who want children, due to the high risk of cancer passed down through a germline mutation in the TP53 gene. Options need to carefully balance the desire for biological children with the risks involved. These options include: 1. Preimplantation Genetic Testing (PGT): This is currently the most effective method to reduce the risk of passing on the LFS mutation. PGT involves:
PGT significantly reduces the risk of having a child with LFS, but it's an expensive and invasive procedure with no guarantee of success. Some embryos may be unsuitable for transfer or may not implant. 2. Adoption or Fostering: This is a viable alternative that eliminates the genetic risk entirely. Adoption and fostering offer the opportunity to raise children and build a family without the associated health concerns of LFS. 3. Sperm or Egg Donation: This option allows a parent with LFS to have a child without passing on the mutated gene. The healthy gamete from a donor eliminates the risk of inheriting LFS. 4. Pre-implantation genetic diagnosis (PGD): Very similar to PGT, PGD is a specific type of genetic testing used during IVF to screen embryos for genetic disorders, including LFS. 5. Careful Monitoring and Early Intervention: Even if a child inherits the LFS mutation, proactive and frequent health screenings can detect cancers early, significantly improving treatment outcomes and survival rates. This is crucial, but doesn't eliminate the risk. Important Considerations:
There is no "right" answer, and the best option depends on the individual couple's circumstances, values, and risk tolerance. Thorough genetic counseling is paramount in guiding this critical decision.
Scientists in the field of DNA research and ethics believe that the final decision should always lie with the parents.
These same scientists also emphasize the importance of educating young people who want to have children about the pros and cons. This way, they can make a well-informed decision
“If you choose prenatal diagnostics, it is generally expected that you will act on the results. In other words, this could lead to the termination of the pregnancy (abortion) if the child is found to be genetically affected.
With preimplantation genetic diagnosis (PGD), only embryos that are not affected are used. Otherwise, the (costly) treatment would be of little use. Therefore, it’s important to think this through carefully beforehand and discuss it with your treating physician, clinical geneticist (and your partner).”
Miin ervaring met het Li-Fraumeni syndroom. ``Ik (1952) kom zelf uit een LFS-familie en ben drager van het foute gen. Dankzij de screening, kan ik nog steeds prima functioneren. Mijn 2e kanker b.v, is bij een jaarlijkse controle ontdekt, toen was er nog wat aan te doen! Onze familie gaat er ook goed mee om. Al mijn broers en zussen en hun kinderen hebben zich inmiddels laten testen. (van de dragers). Voor de diagnose Li-Fraumeni hadden we al een vermoeden dat het erfelijk kon zijn. omdat er teveel kanker voorkwam op jonge leeftijd aan mijn moeders kant, en later in ons gezin. In 1998 kregen we de term ‘ Li-Fraumeni’ voor het eerst te horen en gek genoeg de meeste van ons waren blij dat er nu eindelijk een verklaring was van de vele soorten kanker. Het kreeg een naam en belangrijk , nu ook screening voor alle bekende dragers.'.
European Li-fraumeni Families Foundation. En nieuwe generaties Tot het jaar 2000 was bijna niemand was op de hoogte van het Li-Fraumeni Syndroom.Men had hoogstens een vermoeden dat er een erfelijke factor was door de vele kankergevallen in zijn/haar familie. Vele van ons beseffen nu pas goed wat het is en kán betekenen. 20% kanker op kinderleeftijd en 90% voor het 60e jaar geeft stof tot nadenken. Het kan n.l. niemand ontgaan zijn, dat het al veel leed in zijn/haar familie heeft gebracht, anders was je hier niet.
Li-Fraumeni gaat niet over. en is ook niet te genezen met een pil of behandeling. Het is geen griep, covid, infectie, bacterie of schimmel. Het is een genetische afwijking in het DNA. Jouw DNA. En dat DNA is in je hele lichaam terug te vinden. Je bent je eigen DNA. en dit is ook wat je doorgeeft als je drager bent. Helaas ook met een fout.
N.B. DNA bepaalt ook je huid en oogkleur is en bepaalde eigenschappen zoals muzikaal.
“ELFF-NL zet zich al jaren in voor de LFS families, maar er is een rem. Zonder geld stopt alles. dat is ook zo bij onze stichting. Li-Fraumeni is zeer zeldzaam, wat fondsenwerving nog moeilijker maakt. We doen dus een beroep op jou! De lezer. Vind jij het belangrijk dat we opkomen voor de beste ondersteuning? Maak dan wat over naar de stichting!”
There are locations in your DNA that partly determine how sick you become from a COVID-19 infection. This is shown by research involving the University Medical Center Groningen (UMCG), the University of Groningen, and the Lifelines biobank. “The findings could contribute to a medicine for COVID-19,” says Lude Franke, professor of Genetics at the […]
READ MOREWat is de kans bij LFS patiënten om na een eerste tumor een tweede te ontwikkelen? Het Li-Fraumeni Syndroom (LFS) geeft dragers een sterk verhoogde kans op het vroeg ontwikkelen van kanker en daarnaast een sterk verhoogde kans op het ontwikkelen van meerdere kwaadaardige tumoren in het leven. Precieze getallen waren tot op heden niet […]
READ MOREBiohacker aan het werk, maar werkt ook voor ons? Voorlopig nog even niet, maar wie weet in de toekomt wellicht wel Het is november 2017 en onderzoeker en zelfbenoemd biohacker Josiah Zayner staat op het punt om geschiedenis te schrijven. Hij gaat voor het eerst proberen om menselijk DNA in vivo (dus in het lichaam) […]
READ MOREThere are locations in your DNA that partly determine how sick you become from a COVID-19 infection. This is shown by research involving the University Medical Center Groningen (UMCG), the University of Groningen, and the Lifelines biobank. “The findings could contribute to a medicine for COVID-19,” says Lude Franke, professor of Genetics at the […]
READ MOREWat is de kans bij LFS patiënten om na een eerste tumor een tweede te ontwikkelen? Het Li-Fraumeni Syndroom (LFS) geeft dragers een sterk verhoogde kans op het vroeg ontwikkelen van kanker en daarnaast een sterk verhoogde kans op het ontwikkelen van meerdere kwaadaardige tumoren in het leven. Precieze getallen waren tot op heden niet […]
READ MOREBiohacker aan het werk, maar werkt ook voor ons? Voorlopig nog even niet, maar wie weet in de toekomt wellicht wel Het is november 2017 en onderzoeker en zelfbenoemd biohacker Josiah Zayner staat op het punt om geschiedenis te schrijven. Hij gaat voor het eerst proberen om menselijk DNA in vivo (dus in het lichaam) […]
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