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