Genetics and management of inherited cancer predisposition 2

Published on February 29, 2016   38 min

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This is Joshua Schiffman, pediatric oncologist from the University of Utah. And I am speaking to you today about hereditary cancer syndromes, their genetics, and their clinical management. This is the second part of this discussion.
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We'll now cover the topic of Li-fraumeni syndrome. Li-fraumeni syndrome is the early onset of bone and soft tissue sarcomas, brain tumors, adrenal cortical carcinoma, and many other cancers. In fact, these patients with Li-fraumeni syndrome have been described to have a risk for just about every type of cancer. Their overall lifetime risk is over 90% for women, and over 80% for men. The higher rate in women is often due to the breast cancer risk. Their first cancers often occur at a younger age, and they're likely to develop multiple cancers throughout their lifetime. This is a syndrome that affects both children and their parents. And it is due to a germline mutation in the TP53 gene. imagine, if you will for a moment, what it must be like for these families to know that they have a nearly 100% lifetime risk for cancer, many of those cancers occurring during childhood. This is the quintessential example of the sword of cancer hanging over patient's head. It is really a very important syndrome to study, because this is where we can make the biggest impact if we can understand more about how to manage these patients, these children, these families, at such high risk for cancer. The P53 gene has been known as the guardian of the genome.
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Genetics and management of inherited cancer predisposition 2

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