Genetic research on hereditary breast cancer in Latin America and the Caribbean: a systematic review
DOI:
https://doi.org/10.5377/rtu.v12i35.17003Keywords:
Breast cancer, Hereditary, Latin America, Caribbean, BRCA1/2Abstract
Objective: To identify the countries with studies on hereditary breast cancer (HBC) in Latin America and the Caribbean (LAC) and the frequency of genes with pathogenic variants (VP).
Method: The PRISMA 2020 framework was used as a reference to conduct a systematic review of the literature on the subject, using an explicit method to collect and synthesize the findings of individual studies. Original scientific articles on CaMaH, published between January 2002 and July 2021 were included.
Results: Were found 112 studies genetic on CaMa in 21 of 48 LAC countries and territories (44%), seventeen of them were not included in previous reviews, eight were first publications, from Central America and the Caribbean. More than half of the countries have not published studies on CaMaH and a third do not have any studies on the subject. The most frequently reported genes with VP were: BRCA2 (39.1% in Puerto Rico), BRCA1 (25% in Bahamas), Tp53 (8.6% in Brazil) and PALB2 (4.3% in Barbados).
Discussion: The study of CaMaH in LAC continues to be uneven, but there are important advances in the number of countries and studies. The BRCA1/2 genes are the most studied, followed by PALB2 and TP53. There is heterogeneity in the design, type of population and genes studied, limiting the establishment of general conclusions. The frequency of genes with VP is diverse, in each country and region. It is important to expand genetic screening in the population at risk and strengthen national care programs.
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