This literature review aims to inform and assist physicians and other health professionals in managing all information related to hereditary breast cancer, which is in constant and rapid growth, allowing for improvement in patient care and assistance. In addition, we seek to better identify which patients are eligible for the clinical criteria of association with risk of hereditary breast cancer, based on international recommendations and highlighting the main high and moderate penetrance genes that make up the multigenic panels for germline investigation in breast cancer, as well as the possibilities of clinical management that must be considered when complex decisions are required in clinical practice. Nowadays, there is more interest in population screening, in a greater supply of genetic tests, more genes included in multigene panels — allowing the search for genetic counseling —, apart from the need for clinical-decision support.
Introduction: Malignant breast cancer is the second most common type of cancer among women in the world, leaving behind nonmelanoma skin cancer. The aim of this study was to identify germline variants in the BRCA1 and BRCA2 genes in women diagnosed with breast cancer in the southeastern region of Brazil. Methods: This study is part of a retrospective study, performed from a hospital-based cohort, consisting of 522 women. 92 patients were excluded from the study because they had carcinoma in situ and did not present clinical information, totaling 430 patients. Of these, we performed molecular investigation in 46 patients. BRCA2 variants were detected in 10/46 (22%) women. From 7 missense variants identified, 5 and 2 showed benign and uncertain significance, respectively. Two synonymous variants not previously reported were considered of uncertain significance (c.2622T>A; c.2721G>A), and one nonsense variant showed pathogenic clinical significance (c.2847T>A). Results: The results showed that gene sequencing in individuals with a high risk of hereditary cancer is necessary, as it may reveal new variants, or initially described with uncertain significance. Conclusion: Although this study was conducted with a small cohort of selected breast cancer patients, it reinforces the importance of investigating the Brazilian population due to the finding of the pathogenic variant and genetic counseling.
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