Cupertino Sarah Elisabeth Santos, Gonçalves Ana Carolina Aparecida, Gusmão Lopes Claudemira Vieira, Gradia Daniela Fiori, Beltrame Marcia Holsbach
Programa de Pós-Graduação em Genética, Departamento de Genética, Universidade Federal do Paraná (UFPR), Centro Politécnico, Jardim das Américas, Curitiba 81531-980, Paraná, Brazil.
Laboratório de Genética Molecular Humana, Departamento de Genética, Universidade Federal do Paraná (UFPR), Centro Politécnico, Jardim das Américas, Curitiba 81531-980, Paraná, Brazil.
Genes (Basel). 2025 Feb 6;16(2):199. doi: 10.3390/genes16020199.
Breast cancer (BC) constitutes a significant global health burden, particularly among women, with disparities observed across populations. Notably, women of African ancestry often experience BC at earlier ages and in more aggressive forms, with a higher prevalence of metastasis. Genetic studies, including those focused on and genes, have revealed population-specific variations in BC susceptibility. Despite efforts to investigate BC genetics in African and African-descendant populations, research remains limited compared to studies conducted in populations of European descent. Socioeconomic factors further compound the challenges faced by marginalized populations, influencing disease outcomes and treatment efficacy. This review explores the BC literature in African and African-descendant populations, highlighting population-specific genetic variants associated with the disease's subtypes, treatment response, and disease evolution. Limited sample sizes and lack of data on genetic ancestry hinder the development of precise risk stratification and treatment strategies. Efforts to expand research, improve data collection, and enhance genetic analyses in diverse populations are crucial steps toward addressing racial disparities and advancing BC care on a global scale.
乳腺癌(BC)是一项重大的全球健康负担,尤其在女性群体中,不同人群之间存在差异。值得注意的是,非洲裔女性往往在更早的年龄患乳腺癌,且病情更为凶险,转移患病率更高。包括聚焦于 和 基因的研究在内,基因研究已经揭示了乳腺癌易感性的人群特异性差异。尽管人们努力在非洲及非洲裔人群中开展乳腺癌遗传学研究,但与欧洲裔人群的研究相比,相关研究仍然有限。社会经济因素进一步加剧了边缘化人群面临的挑战,影响疾病转归和治疗效果。本综述探讨了非洲及非洲裔人群中的乳腺癌文献,强调了与疾病亚型、治疗反应和疾病进展相关的人群特异性基因变异。样本量有限以及缺乏基因血统数据阻碍了精确风险分层和治疗策略的制定。扩大不同人群的研究、改进数据收集并加强基因分析的努力,是解决种族差异并在全球范围内推进乳腺癌护理的关键步骤。