KEYWORDS : Genes, BRCA1, BRCA2, breast cancer, mutations, epidemiology.
Abstract
Hereditary breast cancer accounts for a small but significant percentage of breast cancer cases and is an important area of study in oncology and genetics. This literature review examines the genetic characteristics, risk factors, and biological mechanisms that affect the development of hereditary breast cancer. Alterations in the BRCA1 and BRCA2 genes are strongly linked to an elevated risk of breast cancer. Additionally, recent research highlights the role of mutations in other genes that also contribute to the hereditary nature and development of this disease. Through a review of the literature, this study aims to provide a detailed overview of the relationship between genetic and environmental factors, early diagnosis, and treatment options for individuals with a family history of breast cancer. Likewise, the importance of genetic testing and preventive strategies for individuals with a high predisposition is emphasized. To overcome limitations and ensure genuine comparability across studies, it is crucial to standardize guidelines. Publications need to include all necessary information to enable comparison among different studies and to evaluate their impacts in the results. Here we will contribute to a deeper understanding of the biological mechanisms and provide an important basis for the development of more personalized and efficient approaches to the early diagnosis and prevention of hereditary breast cancer.