Síndrome de predisposição hereditária ao câncer de mama e ovário: aspectos clínicos, epidemiológicos e genéticos

Abstract

Hereditary predisposition to breast cancer is considered an important etiological factor for the disease. It is estimated that 10% to 25% of all cases of breast cancer are related to hereditary predisposition. Early diagnosis of Hereditary Predisposition to Breast and Ovarian Cancer Syndrome (HBOC), through the identification and characterization of genetic mutations, is essential to establish a plan for surveillance, prevention and personalized treatments for hereditary cancer. The objective of this work was to characterize the clinical-epidemiological and genetic profile of patients with a clinical diagnosis or family history of HBOC syndrome, who underwent counseling and genetic testing in a specialized private service in Zona da Mata Mineira. This is a crosssectional study, with 275 patients who presented clinical criteria or family history for HBOC between September 2017 and March 2022. Data collection was carried out using an instrument designed to extract information from the electronic medical record. A descriptive analysis was carried out to understand the distribution and prevalence of the variables, followed by bivariate analysis. In the first phase, genetic testing was defined as the dependent variable for all pollution investigated. In subsequent analyses, which included only patients who underwent genetic testing, history of cancer was considered as the dependent variable (personal history of cancer versus only family history suggestive of HBOC Syndrome). The predictor variables were sociodemographic, tumor profile and genetic tests. To verify existing associations, the Chi-square, considering those with p ≤ 0.05 to be statistically significant. Among the patients investigated, it was found that the proportion of patients with black skin color (36.2%) and less education (26.0%) was significantly higher in patients who did not undergo genetic testing compared to those who performed it, respectively 2.6% and 10.6%. No significant differences were found in relation to skin color, education and region of residence, according to history of cancer. However, there were higher percentages of patients living outside the reference municipality, both among those with a personal history of cancer (51.9%) and among those with only a family history of HBOC Syndrome (59.3%). In relation to genetic variables, a higher percentage of family history of cancer in a first-degree relative (67.8%) was observed among patients with only a family history suggestive of HBOC Syndrome, in relation to those with a personal history of cancer (50 .8%) – although with only marginal significance (p=0.07). Regarding the results of the genetic test, no significant difference was found depending on the patients' cancer history. However, there is a tendency for patients with only a family history suggestive of HBOC Syndrome to have a slightly higher proportion of variants present (PP/P) compared to those with a personal history of cancer. The findings of this study contribute to a more comprehensive understanding of HBOC Syndrome and its clinical implications, highlighting the need for equitable medical care. Emphasizes the continued need for research and education about breast cancer, especially regarding hereditary predisposition. It highlights the importance of equity in access to health services, regardless of race, level of education, social or financial position, as well as the need for policies and interventions to combat inequalities and achieve universal health care.