Li-fraumeni syndrome 1

Inheritance

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.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/li-fraumeni-syndrome-1/inheritance/2304 • DATE UPDATED: 2016-06-29

References

http://www.ncbi.nlm.nih.gov/books/NBK1311/

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