Li-Fraumeni Syndrome
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What is Li-Fraumeni syndrome?Li-Fraumeni syndrome is a rare inherited disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults. The cancers associated with Li-Fraumeni syndrome include osteosarcoma (a form of bone cancer), soft tissue sarcoma (cancer that occurs in soft tissues such as muscle), breast cancer, brain tumors, adrenocortical carcinoma (cancer of the adrenal gland, a small hormone-producing gland on top of each kidney), and leukemia (a cancer of blood-forming tissue). Other types of cancer also occur more frequently in people with Li-Fraumeni syndrome. How common is Li-Fraumeni syndrome?Li-Fraumeni syndrome is rare. Fewer than 400 families worldwide have been diagnosed with the condition. What genes are related to Li-Fraumeni syndrome?The CHEK2 and TP53 genes are associated with Li-Fraumeni syndrome. More than half of all families with this condition have inherited mutations in the TP53 gene. TP53 is a tumor suppressor gene, which means that it normally helps control the growth and division of cells. Mutations in TP53 can allow cells to divide in an uncontrolled way and form tumors. Other genetic and environmental factors are also likely to affect the risk of cancer in people with TP53 mutations. A few families with cancers characteristic of Li-Fraumeni syndrome do not have TP53 mutations, but have mutations in the CHEK2 gene. Like the TP53 gene, CHEK2 is a tumor suppressor gene. Researchers are uncertain whether CHEK2 mutations actually cause Li-Fraumeni syndrome or are merely associated with an increased risk of certain cancers (including breast cancer). How do people inherit Li-Fraumeni syndrome?Li-Fraumeni syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing cancer. In most cases, an affected person has one parent with the condition.
Source: National Institutes of Health
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Study findings from Netherlands Cancer Institute provide new insights into cancer genetics
2007 FEB 26 -- New research, "The single-nucleotide polymorphism 309 in the MDM2 gene contributes to the Li-Fraumeni syndrome and related phenotypes," is the subject of a report. "Li-Fraumeni syndrome (LFS) is an autosomal-dominant cancer predisposition syndrome of which the majority is caused by TP53 germline mutations and is characterised by different tumor types occurring at relatively young age. Recently, it was shown that a single-nucleotide polymorphism (SNP) in the MDM2 gene, SNP309 (T >G variation), was associated with accelerated tumor formation in LFS patients who carry a TP53 germline mutation," scientists in Amsterdam, Netherlands report. "To confirm this finding in different populations, we screened 25 Dutch and 11 Finnish TP53 mutation carriers for the presence of the SNP309 G allele in the MDM2 gene. Additionally, we investigated whether the SNP309 G allele plays a role in 72 Dutch TP53-negative LFS and LFS-related patients. In the TP53 germline mutation carriers, a significant difference was seen in the mean age of tumor onset for the SNP309 G allele group, that is, 29.7 years as compared to the SNP309 homozygous T group 45.5 years (p=0.005). In patients of LFS and LFS-related TP53-negative families, no difference was seen in the mean age of tumor onset. However, this TP53-negative group did show a significantly higher percentage of SNP309 homozygotes (G/G) compared to the general population (p=0.02)," wrote M.W. Ruijs and colleagues, Netherlands Cancer Institute. The researchers concluded: "TP53 germline mutation carriers who have an SNP309 G allele have an earlier onset of tumor formation. The higher prevalence of MDM2 SNP309 homozygous G/G carriers in the TP53-negative group suggests that this allele contributes to cancer susceptibility in LFS and LFS-related families." Ruijs and colleagues published their study in European Journal of Human Genetics (The single-nucleotide polymorphism 309 in the MDM2 gene contributes to the Li-Fraumeni syndrome and related phenotypes. European Journal of Human Genetics, 2007;15(1):110-4). For more information, contact M.W. Ruijs, Family Cancer Clinic, Netherlands Cancer Institute, Amsterdam, Netherlands. Publisher contact information for the European Journal of Human Genetics is: Nature Publishing Group, Macmillan Building, 4 Crinan St., London N1 9XW, England. Keywords: Netherlands, Amsterdam, Cancer Genetics, Cancer, Genetics, Oncology. This article was prepared by Clinical Oncology Week editors from staff and other reports. Copyright 2007, Clinical Oncology Week via NewsRx.com.
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