Information,Fraumeni,Syndrome, health Information on Li Fraumeni Syndrome
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Li Fraumeni syndrome is rare, genetic predisposition to several cancers, caused by a variation in the p53 tumor suppressor gene. The cancers most frequently linked with Li-Fraumeni syndrome include breast cancer, a form of bone cancer called osteosarcoma, and cancers of soft tissues (such as muscle) called soft tissue sarcomas. Other cancers commonly seen in this syndrome include brain tumors, cancers of blood-forming tissues (leukemias), and a cancer called adrenocortical carcinoma that affects the outer layer of the adrenal glands (small hormone-producing glands on top of each kidney). Several other types of cancer also arise more often in people with Li-Fraumeni syndrome. A germ line mutation of the checkpoint kinase gene CHK2 may be a predisposing factor in some kindred that do not have TP53 mutations. Other risk factors that may significantly contribute to cancer formation have not been identified. A very similar condition called Li-Fraumeni-like syndrome shares many of the features of classic Li-Fraumeni syndrome. Both conditions significantly enlarge the chances of developing multiple cancers beginning in childhood; however, the pattern of specific cancers seen in affected family members is different. LFS has an autosomal dominant inheritance pattern; therefore, the genetic predisposition for cancer affects males and females equally. Approximately 5-10 cases of squashy tissue sarcoma arise per 1 million children younger than 15 years in United States. in Li Fraumeni syndrome is determined by the type of cancer involved and may include surgery, chemotherapy or radiotherapy. Genetic counseling and genetic testing are used to confirm that somebody has this gene mutation. Genetic counseling is the process of providing individuals and families with information on the nature, inheritance, and implications of genetic disorders to help them make informed medical and personal decisions. Urgent TP53 mutation screening is indicated for young onset breast cancer at fewer than thirty in individuals in families with LFL or for breast cancer usually at fewer than forty for those in a family known to be affected by classical Li Fraumeni syndrome. This screening will help to determine if surgery rather than radiotherapy should be used in the breast cancer treatment. Article Tags: Fraumeni Syndrome, Li-fraumeni Syndrome, Breast Cancer
Information,Fraumeni,Syndrome,