Departamento de Genética, Facultad de Medicina, Universidad de la República, Paysandú 60000, Uruguay.
Departamento Básico de Medicina, Facultad de Medicina, Universidad de la República, Paysandú 60000, Uruguay.
Genes (Basel). 2020 Oct 28;11(11):1272. doi: 10.3390/genes11111272.
Among Latin American women, breast cancer incidences vary across populations. Uruguay and Argentina have the highest rates in South America, which are mainly attributed to strong, genetic European contributions. Most genetic variants associated with breast cancer were described in European populations. However, the vast majority of genetic contributors to breast cancer risk remain unknown. Here, we report the results of a candidate gene association study of sporadic breast cancer in 176 cases and 183 controls in the Uruguayan population. We analyzed 141 variants from 98 loci that have been associated with overall breast cancer risk in European populations. We found weak evidence for the association of risk variants rs294174 (), rs16886165 (), rs2214681 (), rs4237855 (), rs9594579 (), rs8183919 (), rs2981582 (), and rs1799950 () with sporadic breast cancer. These results provide useful insight into the genetic susceptibility to sporadic breast cancer in the Uruguayan population and support the use of genetic risk scores for individualized screening and prevention.
在拉丁美洲女性中,乳腺癌的发病率因人群而异。乌拉圭和阿根廷在南美洲的发病率最高,这主要归因于强烈的、遗传的欧洲贡献。大多数与乳腺癌相关的遗传变异都在欧洲人群中描述过。然而,绝大多数乳腺癌风险的遗传因素仍不清楚。在这里,我们报告了对乌拉圭人群中 176 例散发性乳腺癌病例和 183 例对照进行候选基因关联研究的结果。我们分析了来自 98 个位点的 141 个变体,这些变体与欧洲人群的总体乳腺癌风险相关。我们发现风险变体 rs294174()、rs16886165()、rs2214681()、rs4237855()、rs9594579()、rs8183919()、rs2981582()和 rs1799950()与散发性乳腺癌的关联存在微弱证据。这些结果为乌拉圭人群中散发性乳腺癌的遗传易感性提供了有用的见解,并支持使用遗传风险评分进行个体化筛查和预防。