Inherited TP53 Mutations and the Li–Fraumeni Syndrome
| Autor: | Tanya Guha, David Malkin |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Context (language use) Disease Bioinformatics General Biochemistry Genetics and Molecular Biology Germline Li-Fraumeni Syndrome 03 medical and health sciences Mice 0302 clinical medicine Germline mutation Medicine Animals Humans Family Genetic Predisposition to Disease Germ-Line Mutation business.industry Cancer Epigenome medicine.disease Disease Models Animal 030104 developmental biology Li–Fraumeni syndrome 030220 oncology & carcinogenesis Age of onset Tumor Suppressor Protein p53 business Perspectives |
| Popis: | Li-Fraumeni syndrome (LFS) is a complex hereditary cancer predisposition disorder associated with early-onset cancers in diverse tissues of origin. Germline TP53 mutations are identified in 75% of patients with classic LFS. The lifetime likelihood of a TP53 mutation carrier developing cancer approaches 75% in males and almost 100% in females. Several genetic modifiers have been implicated to account for the phenotypic variability within and across LFS families; however, efforts to develop predictive algorithms of age of onset and type of cancers in individual patients have not yet found clinical use. Although it is not possible to prevent cancers from forming in LFS patients, novel protocols have been developed for surveillance for early tumor detection, leading to improvements in survival. Comprehensive studies of the genome and epigenome in LFS families in the context of germline TP53 mutations is anticipated to shed light on this intriguing, yet devastating, disease and to transform the clinical management of patients. |
| Databáze: | OpenAIRE |
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