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Transcript
CANCER GENETICS & PREVENTION LI-FRAUMENI SYNDROME (LFS) PATIENT INFORMATION What is Li-Fraumeni syndrome? Li-Fraumeni syndrome (LFS) is an inherited condition that increases one’s risk for developing cancers. People who have LFS may develop cancer at young ages, two or more separate cancers, and rare types of cancers. However, there are some men and women with LFS who never develop cancer. People with LFS can develop rare tumors, such as: soft tissue sarcomas (cancers of muscle, fat, and other tissues) osteosarcomas (cancers of the bone) adrenocortical carcinomas (cancers of the adrenal gland) choroid plexus carcinomas (cancers of the brain) People with LFS can also develop more common tumors at unusually young ages, such as: breast cancer leukemia (cancer of the blood) brain tumors (various types) lung cancers colorectal cancer and other cancers of the digestive tract thyroid cancers melanomas Men and women with LFS have about a 90% chance of developing cancer at some point in their lives. People with LFS are more likely to develop cancer at younger ages as compared to other people with cancer. Up to 50% of cancer survivors with LFS go on to develop a second form of cancer. A small number of families with LFS have fewer relatives who develop cancer. Members of these families may have lower risks of cancer. Sometimes these families are said to have “Li-Fraumeni like” syndrome. What causes LFS? About 75% of people with LFS have an alteration in the TP53 gene. Some people are diagnosed with LFS based on their medical and family history, even if they do not carry a detectable alteration in the TP53 gene. All of us have about 22,000 genes in almost every cell in our body. We have two copies of almost every gene (one from each parent). Each gene has a specific job in the body. Genes are made up of a series of four chemical letters (our DNA) in a set pattern. If there is an error (alteration) in the DNA pattern of a gene, then it will not be able to do its job. The TP53 gene helps to fix DNA damage in our cells and keeps our cells growing normally. Cancer Genetics and Prevention: 03/2013 Most people with LFS are born with one altered TP53 gene that does not work and one normal TP53 gene that does work. As long as the one working TP53 gene is doing its job, then cancer is unlikely to occur. This is why some people with TP53 alterations never develop cancer. But over time, there is a chance that the working TP53 gene will get damaged in a single cell. This happens because of chance or because of exposures to cancer-causing agents. Then the cell has no TP53 gene to protect its DNA. Cancer can eventually develop when this happens. How is LFS inherited? Li-Fraumeni syndrome is inherited in a “dominant” manner. Dominant means that it takes only one altered copy of a gene in order to cause LFS. People with LFS do not always inherit a TP53 alteration from one of their parents. About 7-20% of people with LFS have a TP53 gene alteration that occurs as a brand new change in them. Here are the chances that your relatives might have the altered gene: Your children – 50% risk for each child Your Mother or Father – almost a 50% risk. In most cases, one of your parents will be found to have the altered gene. Less often, neither of your parents will have the altered gene, because it has occurred as a new genetic event in you. Your Brothers and Sisters – 50% risk if one of your parents has the alteration. If neither of your parents carries the alteration, then your siblings have a very low risk of having the alteration. Your aunts, uncles, cousins, nieces, and nephews- their chances of having an altered gene depend on where they are in the family tree. Remember that only one side of your family will be at risk of having the altered gene. What are the recommendations for cancer screening and risk reduction? Screening refers to medical tests that try to find cancer at an early stage of disease. Risk reduction strategies are used to try to prevent a specific type of cancer. Individuals with LFS should pay close attention to any lingering symptoms and illnesses, particularly headaches, bone pain, abdominal discomfort, and lumps, bumps, or new growths on their body. Seek prompt medical evaluation for these. Screening: For adult men and women: physical exam every year, including a careful skin exam and a neurologic exam colonoscopy exams every two to five years, beginning no later than age 25 other screening based on the pattern of cancer in the family possible strategies currently being studied through research include: o Rapid whole body MRI o Brain MRI For adult women: Cancer Genetics and Prevention: 03/2013 breast awareness beginning at age 18 clinical breast exams every 6 months beginning at age 20-25 (or earlier depending on family history) breast MRI exams every year beginning at age 20 to 25 (or earlier depending on family history) mammograms every year beginning at age 20 to 25 (or earlier depending on family history) For children: physical exam every year, including a careful skin exam and a neurologic exam other screening based on the pattern of cancer in the family possible strategies currently being studied through research include: o Rapid whole body MRI o Brain MRI o Abdominal ultrasound exam o Biochemical markers of adrenal cortical function Risk Reduction: Preventive surgery to remove breast tissue – This surgery is called prophylactic mastectomy. This surgery can reduce breast cancer risk by over 90%. Issues to consider about mastectomy: the timing of the procedure, the type of surgery, options for breast reconstruction, and the benefits and risks of this surgery. We would be happy to refer you to a breast surgeon and a plastic surgeon to talk more about these issues. People with LFS should avoid smoking, excessive alcohol use, and minimize exposure to sun and radiation when possible. Where can I find more information? Dana Farber Cancer Institute, Cancer Genetics & Prevention www.dana-farber.org/cancergenetics LFS Support Group www.lfsassociation.org American Cancer Society www.cancer.org National Cancer Institute www.cancer.gov References NCCN Guidelines Version 3.2013 Li-Fraumeni Syndrome. Schneider K, Zelley K, Nichols KE, et al. Li-Fraumeni Syndrome. 1999 Jan 19 [Updated 2013 Apr 11]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1311/ Cancer Genetics and Prevention: 03/2013