Current evidences of BRCA mutations in genitourinary and gynecologic tumors: a scoping review

Abstract

Mutations in the tumor suppressor genes breast cancer genes 1 (BRCA1, 17q21, 113705 OMIM) and 2 (BRCA2, 13q12.3, 600185 OMIM) (Figure 1A) are associated with a significant increased risk of particular types of epithelial malignancies (1). Both genes are inherited in an autosomal dominant fashion, they encode proteins that are part of the homologous recombination (HR) repair pathway (Figure 1B), and that are actively involved in the DNA damage repair (DDR) process (2-4). Therefore, functional BRCA1 and BRCA2 proteins have a crucial role in the repair of double-stranded DNA breaks (5). Hereditary components, such as mutations in BRCA1 and BRCA2, have been found to account for around 5% to 10% of all breast Review Article