Monica Araujo explores Li-Fraumeni syndrome (LFS) and the cancers associated with it, including breast cancer, and the pivotal role of genetic counselling in managing its complexities.
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Li-Fraumeni syndrome is a rare, hereditary cancer predisposition syndrome. Understanding this condition is crucial, as it significantly elevates the risk of various cancers, posing unique challenges for those living with it. LFS is characterised by an increased susceptibility to a broad spectrum of cancers at an early age. The most commonly associated cancers include breast cancer, sarcomas (bone and soft tissue cancers), brain tumours, adrenocortical carcinoma, and leukaemia. With the spectrum of cancers encompassing virtually any organ system, people with LFS often face the prospect of encountering multiple cancer diagnoses throughout their lifetime.
Breast cancer
Breast cancer is a particularly prevalent component of LFS. It’s the most common cancer diagnosed in females with LFS. Females with LFS have a remarkably elevated risk of developing breast cancer, often at a younger age than the general population. This heightened susceptibility to breast cancer can pose emotional and physical challenges for people living with LFS and necessitates vigilant screening and preventive measures.
What causes Li-Fraumeni syndrome?
LFS is caused by mutations in the TP53 gene. Under normal circumstances, the TP53 gene plays a pivotal role in preventing the formation and growth of tumours in the body. In LFS, mutations in this gene can compromise its tumour-suppressing function, leading to an increased risk of developing cancer.
The inheritance pattern of LFS is autosomal dominant, meaning that a person only needs one copy of the mutated gene from either parent to be at risk for developing the condition. If a parent carries a disease-causing mutation in their TP53 gene, there is a 50% chance of passing it on to each of their children. However, it’s essential to note that not everyone inheriting the mutation will necessarily develop cancer, and the severity of the syndrome can vary widely, even within affected families.
Understanding the risk
Given the hereditary nature of LFS, genetic counselling is an important resource for affected individuals and their families. Genetic counsellors specialise in helping people understand their risk of hereditary conditions, facilitating informed decision-making about genetic testing, and providing support to cope with the emotional challenges associated with genetic conditions.
For those with a family history of cancers suggestive of LFS, genetic counselling can provide clarity by assessing the likelihood of carrying a TP53 gene mutation. This information is instrumental in making informed choices about cancer screening, prevention, and treatment strategies.
Additionally, genetic counselling empowers individuals to comprehend the complexities of hereditary cancer risk, facilitating proactive measures to mitigate potential threats.
Living with Li-Fraumeni syndrome
The emotional aspect of living with LFS can’t be overstated. Genetic counselling serves not only as an informational resource but also as a pillar of emotional support. Coping with the psychological burden of knowing you carry a genetic predisposition to cancer requires a multi-dimensional approach, and genetic counsellors play a vital role in navigating the emotional intricacies of such knowledge.
While LFS presents unique challenges, individuals can take proactive steps to manage their risk and lead fulfilling lives. Managing LFS requires a multi-disciplinary approach that includes regular surveillance and proactive interventions. Regular comprehensive cancer screenings, including breast MRI and whole-body imaging, are recommended for early detection and intervention. Risk-reducing strategies, such as prophylactic surgeries or chemoprevention, may be considered based on individual risk profiles.
Embracing a support network is equally vital. Connecting with support groups and organisations specialising in hereditary cancer syndromes can provide a sense of community and shared understanding. Sharing experiences, insights, and coping mechanisms can be profoundly empowering for those navigating the complexities and uncertainties of LFS.
Three FAQs
Are there signs and symptoms for LFS?
There are no physical signs. Typically, there is a suspicion of LFS when an individual is diagnosed with cancer at a very young age, or there is a family history of many different types of cancers.
What percent of breast cancer patients are LFS positive?
The exact percentage of breast cancer patients with LFS can vary, but it’s generally estimated to be less than 1% of all breast cancer cases.
When is testing needed?
Considering that the age of onset of the cancers associated with LFS can be as early as childhood, genetic testing for LFS can happen at any age. The children of parents with a known mutation in TP53 can undergo predictive testing at any age and don’t have to wait until adulthood, unlike the BRCA mutations.
MEET THE EXPERT – Monica Araujo
Monica Araujo is a genetic counsellor and lecturer at the Division of Human Genetics at the National Health Laboratory Service and University of the Witwatersrand. She consults with patients and families in state and private healthcare systems who have, or are at risk of, genetic conditions.
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