Please use this identifier to cite or link to this item:
https://www.arca.fiocruz.br/handle/icict/10323
Type
ArticleCopyright
Open access
Sustainable Development Goals
03 Saúde e Bem-EstarCollections
- IOC - Artigos de Periódicos [12980]
Metadata
Show full item record
PREVALENCE AND IMPACT OF FOUNDER MUTATIONS IN HEREDITARY BREAST CANCER IN LATIN AMERICA
Affilliation
Universidade Federal do Rio Grande do Sul.Departamento de Genética. Porto Alegre, RS, Brasil / Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica e Centro de Pesquisa Experimental. Porto Alegre, RS, Brasil.
Universidade Federal do Estado do Rio de Janeiro. Departamento de Genética e Biologia Molecular. Rio de Janeiro, RJ, Brasil. Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Epidemiologia de Malformações Congênitas. Rio de Janeiro, RJ, Brasil.
Universidade Federal do Estado do Rio de Janeiro. Departamento de Genética e Biologia Molecular. Rio de Janeiro, RJ, Brasil. Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Epidemiologia de Malformações Congênitas. Rio de Janeiro, RJ, Brasil.
Abstract
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.
Share