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Prevalence and impact of founder mutations in hereditary breast cancer in Latin America

By Patrícia Ashton-Prolla and Fernando Regla Vargas


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 influx 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

Topics: Genes, Câncer de mama, Predisposição Genética para Doença, Breast cancer genes, BRCA1, BRCA2, TP53, Cancer predisposition
Publisher: Sociedade Brasileira de Genética
Year: 2014
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