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1990s
Cancer cells can develop when DNA becomes damaged and is not repaired. Cancers that run in families can result from inherited gene mutations or shared environmental or lifestyle factors.
The idea that "cancer runs in some families" is probably as old as the disease itself – as is the fear that if a relative has a certain form of cancer, other family members might also be at increased risk. But for decades, scientists had no clear reason why this should be so. Was it simple coincidence? Did certain families have a genetic tendency to develop cancer, often at an early age? Was the environment in which parents and children lived to blame?
Answering those questions would do more than solve an intellectual riddle. If cancer susceptibility could be tied to an abnormal gene or set of such genes, or if an environmental cause was found, steps could be taken to reduce the chances of family members developing the disease.
Dr. Li and his colleagues spent more than two decades tracking down the genetic culprit behind Li-Fraumeni syndrome: the "tumor suppressor" gene called p53.
In 1969, Frederick Li, MD, and Joseph Fraumeni, MD, of the National Cancer Institute reported their discovery of four families who had young children with sarcoma, a connective tissue cancer that is extremely rare in children. Each family also had adult members with breast cancer. Their findings led to the identification of 20 additional families with the condition, which came to be called Li- Fraumeni syndrome.
Frederick Li's work has focused on cancer-prone individuals and families.
More than two decades of work lay ahead as Li and his colleagues sought to track down the genetic culprit. By focusing on cancers common among Li-Fraumeni families, they eventually identified their quarry in 1990 as p53, a "tumor suppressor" gene that orders the death of cells showing signs of becoming cancerous. People who inherit a faulty version of the gene have a greater chance of developing tumors.
The finding opened the way to the discovery of other cancer-susceptibility genes, such as BRCA1 for breast and ovarian cancer.
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