Prevalence of Mutations in BRCA1 and BRCA2 Genes and Predisposition to Hereditary Breast Cancer in Brazilians: Systematic Review

Abstract

Hereditary genetic factors are responsible for 5% to 10% of breast cancer (BC) cases worldwide. The BRCA1/2 genes are among the most analyzed for hereditary BC. The present study aimed to review the prevalence of mutations in the BRCA1/2 genes in Brazilian patients with/candidate or developing hereditary BC. Researches were conducted through Pubmed, ScienceDirect, Medical Literature Analysis and Retrievel System Online (MedLine) and Latin American and Caribbean Literature in Health Sciences (LILACS) databases, with articles published between 2011 and 2019. Twelve articles were included in this study. The BRCA mutation rate ranged from 0.65 to 27.3%. Most studies were carried out in the Southeast region. The most prevalent foundational mutation found was c.5266dup (5382insC) in BRCA1, from the Jewish population Ashkenazi. Few Brazilian studies on BRCA prevalence have been published to this date, which makes it difficult to trace the mutational profile of the Brazilian population. It was possible to verify a wide variation in the prevalence of mutations in the BRCA genes, however, these data may not reflect throughout Brazil, since the Brazilian population is quite heterogeneous and has high rates of immigration.