Estimates show that 5–10% of breast cancer cases are hereditary, caused by genetic variants in autosomal dominant genes; of these, 16% are due to germline mutations in the BRCA1 and BRCA2 genes. The comprehension of the mutation profile of these genes in the Brazilian population, particularly in Amazonian Amerindian groups, is scarce. We investigated fifteen polymorphisms in the BRCA1 and BRCA2 genes in Amazonian Amerindians and compared the results with the findings of global populations publicly available in the 1000 Genomes Project database. Our study shows that three variants (rs11571769, rs144848, and rs11571707) of the BRCA2 gene, commonly associated with hereditary breast cancer, had a significantly higher allele frequency in the Amazonian Amerindian individuals in comparison with the African, American, European, and Asian groups analyzed. These data outline the singular genetic profiles of the indigenous population from the Brazilian Amazon region. The knowledge about BRCA1 and BRCA2 variants is critical to establish public policies for hereditary breast cancer screening in Amerindian groups and populations admixed with them, such as the Brazilian population.

中文翻译：

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在巴西亚马逊土著人口中与遗传性乳腺癌相关的BRCA2基因中的变异（rs11571707，rs144848和rs11571769）的鉴定

估计数字显示，5-10％的乳腺癌病例是遗传性疾病，由常染色体显性基因的遗传变异引起；其中16％是由于BRCA1和BRCA2基因的种系突变。这些基因在巴西人口中，特别是在亚马逊美洲印第安人群体中的突变概况的理解很少。我们调查了亚马逊美洲印第安人的BRCA1和BRCA2基因的15种多态性，并将结果与可在1000个基因组计划数据库中公开获得的全球人群的发现进行了比较。我们的研究表明，BRCA2的三个变体（rs11571769，rs144848和rs11571707）该基因通常与遗传性乳腺癌有关，与所分析的非洲，美洲，欧洲和亚洲人群相比，亚马逊美洲印第安人个体的等位基因频率明显更高。这些数据概述了巴西亚马逊地区土著居民的独特遗传特征。有关BRCA1和BRCA2变体的知识对于在美洲印第安人群体和与其混合的人群（例如巴西人群）中建立遗传性乳腺癌筛查的公共政策至关重要。