A rare hereditary disease that increases the risk of developing cancer is called Li-Fraumeni syndrome (LFS). Unfortunately, there is no way to prevent it, but with early and consistent cancer screenings and treatment, you can reduce the impact of the disease.
In other words, Li-Fraumeni syndrome is a genetic disorder that increases your and your family’s risk for cancer. There is about a 90% chance of developing one or multiple types of cancer by age 60. Most women with Li-Fraumeni syndrome develop breast cancer. Nowadays, researchers are studying new ways to find and treat cancers associated with Li-Fraumeni syndrome. The symptoms of this syndrome are similar to those of the cancer the affected person develops.
Typically, this condition occurs quite rarely, and it affects about 1,000 families worldwide. Moreover, approximately 50,000 people in the United States have this syndrome.
What Cancers Are Associated with Li-Fraumeni Syndrome?
There are multiple types of cancer that are associated with this syndrome. While some of them are considered core cancers because they affect most people with Li-Fraumeni syndrome, there are other types of cancer that occur less commonly. Check the five core cancers below:
- Sarcomas – This syndrome increases the risk of osteosarcoma and soft tissue sarcoma.
- Breast cancer – More than 90% of women with Li-Fraumeni syndrome develop this type of cancer.
- Brain cancer – There are a few types of malignant brain tumors that are associated with this syndrome. For example, gliomas, choroid plexus carcinoma, and medulloblastoma.
- Adrenocortical carcinoma – In this case, the tumor develops on the outer layer of the adrenal glands.
- Leukemia – The acute form of this type of blood cancer is often associated with Li-Fraumeni syndrome.
Check below for other types of cancer that may also occur in people with this syndrome:
- Colon cancer
- Lymphoma
- Lung cancer
- Kidney cancer
- Ovarian cancer
- Pancreatic cancer
- Stomach cancer
- Testicular cancer
- Thyroid cancer
- Skin cancer
If you suspect you have any of the previous cancers, immediately visit a doctor for a diagnosis and treatment. Otherwise, it may lead to serious outcomes.
Causes
This is a genetic disorder that happens due to a change in the TP53 gene. In normal circumstances, this gene is responsible for producing a protein called tumor protein 53 (P53). It is a tumor suppressor, which prevents your cells from growing abnormally and becoming tumors. However, in people with this syndrome, the TP53 gene does not function properly, which leads to an increased risk of multiple types of cancer. While most cases of Li-Fraumeni syndrome are inherited in an autosomal dominant pattern, which means only one abnormal gene is enough to have an increased risk of cancer, other people develop mutations in the TP53 gene without having a family history of the disease.
What Are The Long-Term Effects of Li-Fraumeni Syndrome?
Besides an increased risk of cancer, people with LFS may also experience other complications. Check some of them below:
- Emotional stress
- Chronic anxiety or depression
- Family planning problems – There is about a 50% chance of passing the abnormal gene to your children.
- Lifestyle complications – Normally, people with LFS should avoid all known carcinogens, including tobacco, alcohol, long-term exposure to the sun, and others.
This document does not contain a full list of complications. Moreover, you can consult with your physician about measures to reduce the risk or even prevent them.
Is There a Way to Prevent Li-Fraumeni Syndrome?
While there is no way to prevent this syndrome, doctors will recommend some tips that may reduce the risk of developing cancer. Check some examples below:
- Avoid alcoholic drinks and recreational drugs
- Quit smoking – If you have problems with smoking cessation, discuss it with your doctor.
- Wear sun protection, especially when outdoors
- Prophylactic mastectomy – Sometimes, doctors recommend this surgery in which both breasts are removed. It is done to reduce the risk of breast cancer.
- Regular cancer screenings
Diagnosis
Commonly, doctors diagnose this syndrome by performing a genetic test. It requires a blood sample in which doctors will look for the abnormal gene that causes it. Moreover, there are some criteria that doctors may consider when they suspect LFS. These include:
- An existing sarcoma before 45 years old
- Parents, siblings, or children are diagnosed with cancer before the age of 45
- Any of your grandparents, aunts, nieces, uncles, nephews, or grandchildren develop cancer before the age of 45
After diagnosis is confirmed, doctors will recommend regular cancer screenings, which help find and treat any cancers in the early stages.
Treatment
Generally, there is no specific treatment for LFS. Usually, most treatments are focused on reducing the risk or treating cancer. Doctors often prescribe radiation therapy, chemotherapy, targeted therapy, immunotherapy, surgery, and others. In addition, it is very important to know that people with LFS are more likely to develop cancer in response to radiation exposure.
Frequently Asked Questions
At what age can Li-Fraumeni syndrome be diagnosed?
Li-Fraumeni syndrome can be diagnosed at any age. Some people are diagnosed in childhood after developing cancer, while others are identified through genetic testing because of a strong family history of early-onset cancers. Early diagnosis allows doctors to begin regular cancer surveillance as soon as possible.
Who should consider genetic testing for Li-Fraumeni syndrome?
Genetic testing is usually recommended for people with a personal or family history of multiple cancers, cancers occurring at a young age, or cancers commonly associated with Li-Fraumeni syndrome. A genetic counselor can help determine whether testing is appropriate.
Can Li-Fraumeni syndrome skip a generation?
Because Li-Fraumeni syndrome is usually inherited in an autosomal dominant pattern, it typically does not skip generations. However, some people may inherit the mutation but never develop cancer or may develop it later in life, making the condition appear less obvious within a family.
How often should people with Li-Fraumeni syndrome undergo cancer screening?
The screening schedule depends on age, sex, and individual risk factors. Many experts recommend comprehensive screening every year, along with more frequent physical examinations and imaging tests. Your healthcare provider will create a personalized surveillance plan.
Is Li-Fraumeni syndrome the same as having cancer?
No. Li-Fraumeni syndrome is not cancer itself. It is an inherited condition that greatly increases the lifetime risk of developing one or more types of cancer. Some people with the syndrome may never develop cancer, although regular monitoring remains essential.
Can men develop breast cancer if they have Li-Fraumeni syndrome?
Yes. Although breast cancer is much more common in women with Li-Fraumeni syndrome, men with the condition also have a higher risk of developing male breast cancer compared with the general population, though it remains uncommon.
Should children with Li-Fraumeni syndrome receive regular screenings?
Children with confirmed Li-Fraumeni syndrome often require specialized cancer surveillance because certain childhood cancers, such as adrenocortical carcinoma, brain tumors, and osteosarcoma, occur more frequently in this condition. Screening plans should be developed by specialists experienced in hereditary cancer syndromes.
Can people with Li-Fraumeni syndrome have healthy children?
Yes. Many people with Li-Fraumeni syndrome have healthy children. However, each child has a 50% chance of inheriting the TP53 gene mutation. Genetic counseling can help individuals understand their reproductive options, including prenatal testing and preimplantation genetic testing (PGT).
Does everyone with a TP53 mutation have Li-Fraumeni syndrome?
Most people who inherit a disease-causing (pathogenic) TP53 mutation meet the criteria for Li-Fraumeni syndrome or a related hereditary cancer syndrome. However, the cancer risk and the types of cancers that develop can vary from person to person, even within the same family.
Can lifestyle changes eliminate the cancer risk associated with Li-Fraumeni syndrome?
No. Healthy lifestyle choices cannot eliminate the inherited cancer risk caused by Li-Fraumeni syndrome. However, avoiding tobacco, limiting alcohol consumption, protecting your skin from excessive sun exposure, maintaining a healthy lifestyle, and attending all recommended cancer screenings may help reduce additional cancer risks and improve early detection. If you have any additional questions, ask your healthcare provider.
