AI Article Synopsis
- Li-Fraumeni syndrome (LFS) is an inherited genetic condition that increases the risk of specific cancers, primarily due to mutations in the TP53 gene.
- Individuals with LFS often inherit one normal and one mutated copy of this gene, which can be passed down through generations.
- A case report detailed a 40-year-old woman who, after genetic testing, was identified as a carrier of the TP53 mutation despite having no symptoms, linking her to her family's cancer history.
Article Abstract
Li-Fraumeni syndrome (LFS) is an inherited genetic condition that makes individuals predisposed to specific types of cancer. As a result, cancer risk can be passed down from generation to generation. TP53 is the genetic blueprint for a protein called p53 and most commonly causes this condition by mutations or alterations in that gene. Mutations prevent the gene from functioning properly. LFS is associated with TP53 gene mutations in approximately 70% of families. Most patients with LFS have one normal copy of TP53 and one mutated copy of TP53, usually inherited from a parent with the condition. This is a case report of a 40-year-old female who underwent genetic testing to determine her p53 mutation status. Her mother was diagnosed with breast cancer at a young age, despite the fact that her brothers and sisters' genetic tests came out normal. The genetic testing showed her as a carrier for the TP53 gene mutation. Despite the fact that she had no signs or symptoms of any linked tumors associated with the condition, she was diagnosed with LFS.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9573781 | PMC |
| http://dx.doi.org/10.7759/cureus.29240 | DOI Listing |
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