Genes relacionados à Síndrome de Li-Fraumeni: uma revisão
Abstract
Introduction: Hereditary cancer syndromes have in common mutations in key genes that can be passed down from generation to generation. Li-Fraumeni Syndrome is one of the most representative of this class, but it presents a great heterogeneity and diversity of tumors. Although the TP53 gene is the most studied in relation to the etiology of the syndrome, it is very important to know other genes related to specific predisposition pathways, as well as the main mutations that affect them. Objectives: The aim of this review is to identify biomarkers involved in the genesis and development of Li-Fraumeni syndrome by analyzing scientific articles on the genes involved in the syndrome. In addition, a survey of the main mutations in the TP53 gene was carried out. Methods: Articles were searched in the Pubmed database according to the inclusion and exclusion criteria, using specific keywords. Initially, screening was carried out by reading the titles and abstracts and then the full texts. Results: After screening, 17 articles were included to form part of the review, of which 6 were about breast cancer studies and genes related to the syndrome, 9 about potential genes and 2 about social support for families. Conclusions: The TP53 gene continues to be referred to as the main gene related to the syndrome, with the R337H mutation being the most prevalent. With the survey of studies carried out in this review, it can be concluded that there are several genes related to Li Fraumeni syndrome and different mutations in TP53, according to the diversity of cancers affected. Several other genes show potential correlations with the syndrome, including CHEK2, ATRX, BRCA1, BRCA2, ERCC3 and PTEN, which could in the future screening panels to better identify families and individuals at risk.
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