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Li-Fraumeni Syndrome

By: Jasmin Aquines, Arely Mancilla

Description

Li-Fraumeni is a rare disorder that increases the chances of a person developing certain cancers. It is most often seen in children or young adults.

Cancers associated:

  • Breast Cancer
  • Osteosarcoma
  • Leukemias
  • Soft Tissue Sarcomias

Description

Cause

Genetic Codes-A, C, G, and Ts are put together in a certain way

-Ribosomes read them

-Protein Production

Li-Fraumeni is due to a mutation in a gene (TP53). Because of this, the protein (p53) is not produced correctly. This protein is tumor suppressing and helps control cell growth and division.

Cause

Symptoms

Common cancer symptoms:

  • Inexplicable weight loss
  • Loss of appetite
  • Pains that cannot be explaned
  • Changes in vision
  • Headaches that do not go away
  • Changes in moles or new moles

Symptoms

Pedigree

Genetic Charts

Punnet Square

The gene for Li-Fraumeni syndrome is unfortunately dominant meaning you only need one copy of the altered gene to develop it. Your father didn't have it, so you're phenotype is probably Tt. Your husband show doesn't seem to have it either so his phenotype is tt.

t

T

Punnet Square

Tt-Affected

t

tt

Tt

tt-Unaffected

Tt

tt

t

Recommendations

Our recommendations would be that you get your niece and nephew tested. It might. It may be difficult to face the results, but we'll be with you through the whole process. It is important to know this information so that you can take certain precautionary measures.

Tips

1. Don't buy a brand just because it is popular.

-Some companies worry more about sales than the actual product. They may include certain ingredients that are harmful and increase cancer risk even more.

2. Don't miss out on deeper detail.

-Choose a genetic test that will be very thorough and truly test for certain disorders.

3. Don't confuse "accuracy with precision".

-For something to be "accurate", it just needs to be true. For something to be "precise", it has to be an exact expression of details.

Tips

Frequently Asked Questions

FAQs

  • Should we have our family members test for it?
  • What's the likelihood of my children having this disease?
  • What are the percentages of developing cancer?

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