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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.
