Download File - Ryan Williams, Project Lead the Way Biomed Portfolio

CASE #574321F – THE
FORD FAMILY
Ryan Williams
Li-Fraumeni syndrome
• Li-Fraumeni syndrome is a rare genetic disease which was passed
down from the mother, in this case but can be passed down from
either parent.
• Li-Fraumeni syndrome makes Marie more likely to get cancer.
• Li-Fraumeni is diagnosed when:
1. Diagnosed with sarcoma when younger than 45 years
2. A relative diagnosed with any cancer diagnosed when younger
than 45 years
3. Another relative of the same genetic pedigree or lineage diagnosed
with any cancer diagnosed when under the age of 45 or sarcoma
diagnosed at any age
• This syndrome is linked to “germline mutation”, which means that
causes mutations of the TP53, the gene responsible for cell growth.
(The p53 acts as a program that tells your cells to stop multiplying,
but with this disorder, or cancer, the ‘mutant protein’ inactivates the
normal protein (the program) and allows the cancer cells to multiply at
an uncontrollable rate). This can either arise in Marie’s earlier embryo
stages or it was in one of the parent’s germ cells.
Pedigree Autosomal Dominant
Questions
• 1.) Will I pass down my disorder to my children?
There is a 50/50 chance that Marie’s children will have the same
disorder as their mother due to the fact she has the autosomal
dominant disease and her partner doesn’t.
• 2.) Should my niece and nephew be tested for this disease?
Yes, because there is a chance that Marie’s sibling has the disease and
because it is an autosomal dominant disease you cannot be a carrier of
the disease, which means if you have traits of the disease you have the
disease.
• 3.) Are there any ways to prevent cancer in my children if they end up
with Li-Fraumeni syndrome?
There is no way sure way to prevent these cancers that Marie’s
children are susceptible too (breast, leukemia, sarcoma, and adrenal
gland). But there are ways to start naturally preventing these cancers
such as eating healthy and exercising regularly. They can live a
normal life if they take certain precautions and understand what they
should do if they find out that they have cancer.
Treatment and Suggestions?
• The sad news is that there is no treatment for Li-Fraumeni
syndrome, as most Li-Fraumeni patients are treated the same
as cancer patients due to the fact that Li-Fraumeni syndrome
causes more susceptibility to certain cancers which are treated
with; chemotherapy, radiation, or surgery. The only way to
“treat” this disorder is to know the possible outcomes and types
of cancer that you can get and start taking precautions early.
This would mean eating healthy, proper exercise, and frequent
check-ups. Other than that Li-Fraumeni patients live normal
lives but with an increased risk of getting cancer. There is an
ethical problem that many people have with, “when do I tell my
children?” It is reccomended you tell the child as soon as
possible that they have this disorder, and until they can
understand that you make sure they are eating right and
constantly active. This is due to the fact that the child should
know that if they have the disease, how to live with it because it
could cause major complications (cancer).