Abstract
The last 10 years witnessed an acceleration of our understanding of what genetic factors underpin the risk of breast cancer. Rare high- and moderate-penetrance variants such as those in the BRCA genes account for a small proportion of the familial risk of breast cancer. Low-penetrance alleles are expected to underlie the remaining heritability. By now, there are about 180 genetic polymorphisms that are associated with risk, most of them of modest effect. In combination, they can be used to identify women at the lowest or highest ends of the risk spectrum, which might lead to more efficient cancer prevention strategies. Most of these variants were discovered in populations of European descent. As a result, we might be failing to discover additional polymorphisms that could explain risk in other groups. This review highlights breast cancer genetic epidemiology studies conducted in Latin America, and summarizes the information that they provide, with special attention to similarities and differences with studies in other populations. It includes studies of common variants, as well as moderate- and high-penetrance variants. In addition, it addresses the gaps that need to be bridged in order to better understand breast cancer genetic risk in Latin America.
Highlights
Breast cancer is the most common cancer in women, and a major public health concern worldwide [1]
We focused on studies with case series, cohorts, or case/control design, conducted in Latin America and that included genetic factors as main predictors
Latin American countries, for which prevalence was assessed in unselected breast cancer patient cohorts, report a similar prevalence to that of non-Hispanic Whites (NHW) in the US; this includes Brazil [61], Colombia [62], Cuba [63], Mexico [64,65], Peru [66], and Puerto Rico [67], for which the prevalence in unselected breast cancer cases was shown to be below 5%
Summary
Breast cancer is the most common cancer in women, and a major public health concern worldwide [1]. A relatively small proportion of breast cancers can be explained by the presence of high-penetrance genetic mutations, such as those in the BRCA1 and BRCA2 genes [10,11,12,13,14,15,16,17,18,19]. Latin American populations are diverse, culturally, and in their genetic ancestry composition [52,53]. This diversity is likely to have an impact on the distribution of genetic determinants of breast cancer risk in different regions. We did not narrow the search by date; the selected studies were published between 2008 and 2018
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