特定背景下的突变：BRCA检测在不同人群中的意义
Mutations in context: implications of BRCA testing in diverse populations.
作者信息
Felix Gabriela E S, Zheng Yonglan, Olopade Olufunmilayo I
机构信息
Center for Clinical Cancer Genetics & Global Health, Department of Medicine, University of Chicago, Chicago, USA.
Laboratório de Imunologia e Biologia Molecular, Instituto de Ciências da Saúde, Universidade Federal da Bahia, Salvador, Brazil.
出版信息
Fam Cancer. 2018 Oct;17(4):471-483. doi: 10.1007/s10689-017-0038-2.
Abstract
Cancer is a common non-communicable disease worldwide, although it exhibits differential population trends in incidence and mortality rates. The differences relate to population structure, environmental risk factors as well as health system organization. This article discusses the potential impact of genetic testing on population health, focusing in particular on the mutational spectrum of breast cancer susceptibility genes in diverse populations. We identify the need for improved access to, and increased investment in, comprehensive cancer risk assessment and genetic testing as well as cancer control measures that take into account lifestyle, environmental, and social factors in understudied minority groups.
摘要
癌症是一种全球常见的非传染性疾病，尽管其发病率和死亡率呈现出不同的人群趋势。这些差异与人口结构、环境风险因素以及卫生系统组织有关。本文讨论了基因检测对人群健康的潜在影响，尤其关注不同人群中乳腺癌易感基因的突变谱。我们认识到，在未得到充分研究的少数群体中，需要改善获得全面癌症风险评估和基因检测的机会，增加相关投资，以及采取考虑生活方式、环境和社会因素的癌症控制措施。
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