“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.

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:

• Regular medical screenings: Frequent checkups and specific cancer screenings (e.g., MRIs, mammograms, colonoscopies) are crucial for early detection. The earlier a cancer is found, the better the chances of successful treatment. Your doctor or a genetic counselor can help you create a personalized screening plan.
• Healthy lifestyle choices: While not a guarantee of preventing cancer, maintaining a healthy lifestyle can help. This includes:
  • Diet: Eating a balanced diet rich in fruits, vegetables, and whole grains.
  • Exercise: Regular physical activity.
  • Sun protection: Limiting sun exposure and using sunscreen.
  • Avoidance of tobacco: Not smoking or using tobacco products.
  • Limiting alcohol consumption: Reducing or avoiding alcohol.
• Genetic counseling: If you know you carry the LFS mutation, genetic counseling is vital. A counselor can help you understand your risks, make informed decisions about screenings and lifestyle choices, and discuss options for family planning.
• Prophylactic surgeries: In some cases, a doctor may recommend prophylactic (preventative) surgery to remove organs at high risk of developing cancer. This is a very personal decision with its own risks and benefits that need careful discussion with a medical professional.

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:

• In Vitro Fertilization (IVF): Eggs are retrieved and fertilized in a lab.
• Embryo Biopsy: A small number of cells are removed from each embryo.
• Genetic Testing: The cells are tested for the TP53 mutation.
• Embryo Selection: Only embryos without the mutation are implanted.

 
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:

• Genetic Counseling: This is essential before making any decisions. A genetic counselor can explain the risks and benefits of each option, helping parents make informed choices based on their individual circumstances and values.
• Emotional Well-being: The decision-making process can be emotionally challenging. Support from family, friends, and mental health professionals is crucial.
• Financial Implications: IVF, PGT, and other assisted reproductive technologies can be very expensive.

 
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).”

Don’t feel pressured to share this immediately, but it’s something you’ll need to discuss eventually. Understanding your partner’s perspective is key, particularly regarding future family plans. Many couples successfully navigate similar situations.

You’re right that this is a complex dilemma, the outcome of which heavily depends on personal circumstances, values, and the relationship with your partner. Li-Fraumeni syndrome (LFS) is a rare hereditary condition that significantly increases the risk of various types of cancer. It’s understandable that this raises many questions and uncertainties, especially when it comes to life choices, relationships, and family planning.

Here are a few considerations that may help navigate this situation:

1. Communication with your partner: Open and honest communication is crucial. Discuss your concerns, fears, and expectations with each other. It’s important to make decisions together about how you want to handle the situation.
2. Medical advice and screening: Regular screening can help detect and treat any health issues early. This can provide a sense of control and improve the chances of a good prognosis.
3. Life perspective and resilience: Consider how you view life and what you value most. Is the love and support for each other strong enough to face potential challenges? It’s also important to assess your own resilience and that of your partner.
4. Family planning: If you don’t have children yet, there are options like pre-implantation genetic diagnosis (PGD) to ensure that any children do not inherit the syndrome. If you already have children, it’s important to consult a genetic counselor about the best way to handle this.
5. Emotional support: Seek support from friends, family, or professional counselors. Sharing your feelings and experiences can help you cope better with the situation.
6. Future perspective: Although Li-Fraumeni syndrome is serious, it doesn’t necessarily mean a shorter life. With proper medical care and screening, people with LFS can still reach a considerable age.

Ultimately, it’s important to make decisions that align with your values, relationship, and life circumstances. It’s a personal choice with no one-size-fits-all answer, but by working together and communicating openly, you can find a path that works for you.

Motivate him to get tested, so you’ll know where you stand. You might spend years living with doubts, while your partner may not be a carrier. Note: if you have children and your partner is not a carrier, then your children are also not affected! In our view, this is an important consideration. If your partner is a carrier, they deserve all the support. And it’s available. For you too!”

Having children is the desire of two people, so your partner as well. You both must stand behind this decision. Keeping it hidden can cause problems later. Involve your partner and work together to find the right information and guidance. And importantly, make a decision that you both agree on

Some matters, such as a disability or pregnancy, you might prefer not to mention in your CV or during a job interview because you’re afraid it could reduce your chances of getting the job. What should you disclose, and what is better left unsaid? In theory, the answer to this question isn’t so difficult, but in practice, the opposite proves true.

I can explain how it’s arranged in the Netherlands. Check-in your own country what rights you are entitled to

For the Netherlands……..
According to the law, you are not required to disclose anything about your health or medical history in your CV or during a job interview. The Medical Examinations Act even prohibits employers from asking about it. Questions like, ‘Have you been sick often in the past?’ or ‘Do you want to have children?’ are therefore not allowed!

In the Netherlands, you are required to disclose information that could affect your ability to perform your job. This applies, for example, if you need adjusted working hours or if you are unable to perform certain tasks that are essential to the role. Withholding important information about your health could later result in the suspension of salary payments or, in extreme cases, even lead to dismissal.

However, you do not need to specifically disclose Li-Fraumeni syndrome unless it directly impacts your ability to perform your job. If the syndrome does not hinder your ability to carry out your duties, it is not necessary to mention it. It is always advisable to consult with an employment law advisor or legal expert if you are unsure about what you should or should not disclose.

You will need to decide for yourself whether to include information about your health in your CV or whether to mention it during the job interview.

If you are applying for a role where your experiences with illness can actually be an asset, it makes sense to mention it.
If your CV indicates that you have been ill, it may be better to be upfront and explain what your situation was and is.
If you choose not to disclose it, there may be a gap in your CV. In all likelihood, the interviewer will ask about this during the job interview.

In your cover letter, strongly emphasize your ability to perform the role effectively.
Prepare thoroughly for your job interview. Carefully consider whether you want to share anything about your health (and if so, how much) or not.

The first impression during the interview is crucial. Be enthusiastic and explain why you are well-suited for the role. Try to put a positive spin on your illness experiences. Highlight how they have made you stronger and how you now have a better understanding of your limits.

If you receive a WAO (Work Disability) benefit, inform your potential employer about the financial advantages they may be eligible for by hiring someone with a work disability.

An employer is not allowed to reject an applicant because of pregnancy. However, they often come up with excuses, such as, “We found a better candidate” or “The position has suddenly been filled internally.” Unfortunately, there is little you can do about this.

Die wordt ook uitgenodigd om zich te laten testen. Vaak wordt gevraagd of je hier aan wilt meewerken, Maar het ziekenhuis kan en mag ook besluiten de familie zelf aan te schrijven. Al dan niet samen met jou, Als je de eerste bent, dan zou je iemand in je familie kunnen benaderen die  ‘goed ligt’. Vooral als je er zelf tegenop ziet.

Als je de eerste drager van het Li-Fraumeni  syndroom bent in je familie, dan is het belangrijk dat de familie wordt ingelicht. Ongetwijfeld zullen er  dan meer familieleden zijn die drager blijken zijn van het foute gen. ( hoeft niet) Niet iedereen zal blij zijn met deze mededeling. Een goede voorbereiding is dan ook belangrijk.

Een eerste stap kan een familiebrief zijn (daar is een voorbeeld van) waarin wordt uitgelegd dat de mogelijkheid bestaat dat  een of meer familieleden  drager kunnen zijn. Hier is de toon belangrijk. Geen  angst aanpraten maar juist voorkomen. Kom je uit een LFS familie, dan zullen er veel mensen zijn die zeggen’ ahhh, dat verklaard al veel’ m.a.w Kanker kwam  al veel voor in de familie, maar  het had geen naam. Nu wel. Li-Fraumeni. Met screening kan in ieder geval veel leed voorkomen worden. Het ziekenhuis beschikt over deze concept brief.

Dat is je goed recht. Het ligt ook vaak aan de verhoudingen binnen de familie. Zijn ze er bij betrokken of horen ze er liever niets over?  Maak het bespreekbaar op de poli, ze helpen je  graag vooruit.

Ons advies is om je wensen bespreekbaar te maken bij  een kleine groep mensen in de familie, die je goed kent en waar je een goed contact mee hebt. Dit kan een broer of zus zijn, maar ook een nicht, neef, oom of tante. En het later te delen met de rest van de familie. Uiteraard binnen een redelijke termijn

Angst is vaak de reden!
Sommige mensen kunnen slecht omgaan met onzekerheden en veranderingen. Het zet hun hele wereld op z’n kop. Li-Fraumeni Syndroom kan ook  een schok geven. Op termijn en met de juiste voorlichting kom je verder en zal men het accepteren. Anders is er professionele  hulp beschikbaar
(TIP: geef een folder of de URL van deze website)

De boodschappers wordt(helaas) niet altijd gewaardeerd. Vooral niet bij de mensen die er liever niets over willen weten. Het kan gebeuren dat je het verwijt krijgt dat je je mond had moeten houden. Wij begrijpen die reactie wel, maar willen je ook laten beseffen dat je niets fout doet. Wat andere er uiteindelijk mee doen is niet jouw verantwoording. Niets vertellen zou daarentegen  niet eerlijk zijn.

Organiseer een voorlichtingsdag voor je familie!
Je zou aan het Klinisch Genetisch Centrum kunnen vragen of zij een voorlichtingdag willen organiseren om het allemaal eens goed uit te leggen. Je kan je familieleden daarvoor uitnodigen. Meestal is daar een klinisch geneticus bij aanwezig, een maatschappelijk werkster en een psycholoog.

Kan, je hebt gerust wel even de tijd om alles op je in te laten werken. Het kan ook te maken hebben met de fase in je leven of persoonlijke omstandigheden.

Onze Raad: Lees deze website eens rustig door en probeer je een beeld te vormen wat het kan betekenen? Ontkennen heeft geen zin, zeker niet als een van je ouders Li-Fraumeni patiënt is. Bedenk dat het ook heel goed zo kan zijn dat je NIET belast bent. Het is beslist de moeite waard om hier een antwoord op te krijgen.

Ben je niet belast? Dan zul je het ook niet krijgen. Ook niet je kinderen, klein- en achterkleinkinderen.  Mocht je wel drager zijn, dan vergaat de wereld ook niet. Er bestaat namelijk een goede screening!

 Het doel van de screening is het voorkomen van kanker, door op tijd in te grijpen.  Dit is heel belangrijk| Te laat, kan ook zomaar betekenen ‘we kunnen niets meer voor u betekenen’ Ervaring leert dat mensen die gebruikmaken van de  screening daar erg tevreden over zijn. Je krijgt prima begeleiding en iedereen is goed aanspreekbaar. M.a.w Het went snel en het geeft ook een veilig gevoel.  Let wel, ondanks de screening kun je wel kanker ontwikkelen, die behandeld moet worden. Het is nooit een 100% garantie. 

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.

Geloof (welke dan ook) kan niet de reden zijn om een test te weigeren.  Dat zou wel een bijzonder zware test zijn. Het stopt ook niet bij jou alleen.  Een foutje van de natuur kan er zo maar in zitten (denk maar eens aan de covid mutaties) zo is ook Li-Fraumeni eens gestart, met een fout in het P53 gen. Mocht je er niet uitkomen, ga dan in gesprek met een voorganger. Je doet niets verkeerd om je te laten testen.