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Breast cancer (BC) is the most common malignancy among women worldwide. A major advance in the understanding of the genetic etiology of BC was the discovery of  BRCA1  and  BRCA2  ( BRCA1/2 ) genes, which are considered high-penetrance BC genes. In non-carriers of  BRCA1/2  mutations, disease susceptibility may be explained of a small number of mutations in  BRCA1/2  and a much higher proportion of mutations in ethnicity-specific moderate- and/or low-penetrance genes. In Central and South American populations, studied have focused on analyzing the distribution and prevalence of  BRCA1/2  mutations and other susceptibility genes that are scarce in Latin America as compared to North America, Europe, Australia, and Israel. Thus, the aim of this review is to present the current state of knowledge regarding pathogenic  BRCA  variants and other BC susceptibility genes. We conducted a comprehensive review of 47 studies from 12 countries in Central and South America published between 2002 and 2017 reporting the prevalence and/or spectrum of mutations and pathogenic variants in  BRCA1/2  and other BC susceptibility genes. The studies on  BRCA1/2  mutations screened a total of 5956 individuals, and studies on susceptibility genes analyzed a combined sample size of 11,578 individuals. To date, a total of 190 different  BRCA1/2  pathogenic mutations in Central and South American populations have been reported in the literature. Pathogenic mutations or variants that increase BC risk have been reported in the following genes or genomic regions:  ATM ,  BARD1, CHECK2, FGFR2, GSTM1, MAP3K1, MTHFR, PALB2, RAD51, TOX3, TP53, XRCC1 , and  2q35 .   Electronic supplementary material  The online version of this article (doi:10.1186/s40659-017-0139-2) contains supplementary material, which is available to authorized users.

Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations