Li-fraumeni syndrome

Inheritance

How is Li-Fraumeni syndrome inherited?

We all have two copies of every gene, including two TP53 genes. We inherit half of our genetic information from each parent, so one of our TP53 genes is inherited from our mother, and the other is inherited from our father. If a parent has Li-Fraumeni syndrome, there is a 50% chance that each of his or her children will also have Li-Fraumeni syndrome. This is called autosomal dominant inheritance. A person only needs to inherit one copy of a nonfunctioning, or mutated, TP53 gene to have Li-Fraumeni syndrome.

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What does it mean to have a "variant of uncertain significance"?

My child has Li-Fraumeni. Will others in the family have it?

What does it mean to have a "variant of uncertain significance"?

Sometimes genetic testing shows a change in the TP53 gene called a "variant of unknown significance" or a VUS. This means that a genetic change was found that we do not fully understand. In other words, this genetic change may cause Li-Fraumeni syndrome (LFS) syndrome or it may be a normal variation. We need more data to be sure. A genetic counselor or geneticist can help explain what this result means. Over time, scientists may learn more about variants of unknown significance. If someone has a VUS in the TP53 gene they should check with their healthcare provider on an annual basis for updates on the VUS. Over time, scientists may learn enough about the VUS to determine if a variant is associated with an increased risk for cancer or if the finding is just a normal variation and not related to cancer risk.

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My child has Li-Fraumeni. Will others in the family have it?

Because Li-Fraumeni is inherited in an autosomal dominant inheritance pattern, it means that every first degree relative of an affected individual has a 50% chance of also having it. First degree relatives are siblings, children, and parents. Second degree relatives should have testing after first degree relatives are all tested. in a specific example, let's say 27-year-old Andrea has been diagnosed with Li-Fraumeni syndrome. Andrea has 3 children. EACH of her children has an individual 50% chance to also have it. Andrea has 2 siblings: one brother and one sister. EACH of her siblings has an individual 50% chance to also have it. Andrea's mother has testing and is negative. This means that Andrea's mothers side of the family does NOT need to have any more testing. Andrea's father has testing and is positive. Each of Andrea's father's siblings should have testing as well, because they have an individual 50% chance of being positive as well.

References

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