Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil . ; Serviço de Genética Médica e Centro de Pesquisa Experimental, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brasil.
Departamento de Genética e Biologia Molecular, Universidade Federal do Estado do Rio de Janeiro, Rio de Janeiro, RJ, Brasil ; Laboratório de Epidemiologia de Malformações Congênitas, Instituto Oswaldo Cruz, Fundação Oswaldo Cruz, Rio de Janeiro, RJ, Brazil .
Genet Mol Biol. 2014 Mar;37(1 Suppl):234-40. doi: 10.1590/s1415-47572014000200009.
Approximately 10% of all cancers are considered hereditary and are primarily caused by germline, high penetrance mutations in cancer predisposition genes. Although most cancer predisposition genes are considered molecularly heterogeneous, displaying hundreds of different disease-causing sequence alterations, founder mutations have been identified in certain populations. In some Latin American countries, founder mutations associated with increased risk of breast and other cancers have been described. This is particularly interesting considering that in most of these countries, populations are highly admixed with genetic contributions from native populations and from the in-flux of several distinct populations of immigrants. In this article, we present a review of the scientific literature on the subject and describe current data available on founder mutations described in the most common breast cancer predisposition genes: BRCA1, BRCA2 and TP53.
约 10%的癌症被认为是遗传性的，主要由种系、高外显率的癌症易感性基因中的突变引起。尽管大多数癌症易感性基因在分子上是异质的，显示出数百种不同的致病序列改变，但在某些人群中已经确定了起始突变。在一些拉丁美洲国家，已经描述了与乳腺癌和其他癌症风险增加相关的起始突变。考虑到在这些国家中的大多数国家，人群是高度混合的，具有来自本地人群和几批不同移民群体的遗传贡献，这一点尤其有趣。在本文中，我们回顾了关于这一主题的科学文献，并描述了目前关于最常见的乳腺癌易感性基因 BRCA1、BRCA2 和 TP53 中描述的起始突变的可用数据。
