Li-Fraumeni Syndrome: A Rare Genetic Disorder.
| Autor: | Tazin F; Family Medicine, East Liverpool City Hospital, East Liverpool, USA., Kumar H; Medicine, Dow University of Health Sciences, Karachi, PAK., Israr MA; Department of Research, Larkin Community Hospital Palm Springs Campus, Hialeah, USA., Omoleye D; Division of Research, Grandville Medical Centre, Lagos, NGA., Orlang V; Family Medicine, East Liverpool City Hospital, East Liverpool, USA. |
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| Jazyk: | angličtina |
| Zdroj: | Cureus [Cureus] 2022 Sep 16; Vol. 14 (9), pp. e29240. Date of Electronic Publication: 2022 Sep 16 (Print Publication: 2022). |
| DOI: | 10.7759/cureus.29240 |
| Abstrakt: | 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. Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2022, Tazin et al.) |
| Databáze: | MEDLINE |
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