Dados do Resumo

Título

Frequency of incidence of breast cancer in patients diagnosed with Li-Fraumeni Syndrome, with a genetic profile of the r337h variant.

Introdução

Li-Fraumeni syndrome is a hereditary genetic disorder that predisposes individuals to various types of cancer, such as sarcomas, osteosarcoma, central nervous system tumors, breast cancer, adrenal cortex tumors, and leukemia, due to mutations TP53 gene. In Brazil, the R337H variant is common and has increased the incidence of this syndrome. This study aims to analyze the incidence of breast cancer and discuss the need for screening and early diagnosis for individuals with this genetic profile.

Objetivo

This study investigates the incidence of breast cancer in patients with Li-Fraumeni syndrome and the R337H variant of the TP53 gene. The aim is to determine the prevalence of cancer among these patients and explore associations with the R337H variant, as well as analyze related clinical and genetic factors.

Métodos

This is a literature review conducted using scientific articles selected from the PubMED and Virtual Health Library (BVS) databases, published between 2019 and 2024, in Portuguese and English. The descriptors used were: “Li-Fraumeni syndrome”; “R337H variant”; “breast cancer”; “screen,” combined with the boolean operator “and,” resulting in a total of 7 articles, which were fully used as bibliographic references.

Resultados

Studies on individuals with Li-Fraumeni syndrome diagnosed with breast cancer have revealed that between 70.3% and 79.1% carry the R337H variant, which has been primarily associated with invasive breast carcinoma. On the other hand, there was no clear relationship between the presence of the variant and the degree of malignancy. Additionally, genomic instabilities were more frequent in the presence of the variant. Patients with the R337H variant were diagnosed at a significantly older average age, ranging from 5.5 years older according to the studies. The research also examines the potential impacts on studies due to sociodemographic, attributing the high prevalence of the mutation in the South and Southeast regions to a founder effect. Moreover, there are differences in the quality of access to testing, health insurance, and healthcare services among the population. The studies are categorical about the need for greater attention, new screening strategies and risk reduction.

Conclusões

It can be inferred that Li-Fraumeni syndrome is a genetic condition that triggers multiple cancer presentations throughout life. The R337H variant, prevalent in Brazil, is correlated with the development of this condition in breast tissue, characterized by invasive features and a worse prognosis if early screening is not carried out. In this context, the promotion of genetic screening and surveillance strategies is essential for early diagnosis.