| dc.creator | Ashton-Prolla, Patrícia | |
| dc.creator | Vargas, Fernando Regla | |
| dc.date | 2015-05-15T13:16:42Z | |
| dc.date | 2015-05-15T13:16:42Z | |
| dc.date | 2014 | |
| dc.date.accessioned | 2023-09-27T00:01:09Z | |
| dc.date.available | 2023-09-27T00:01:09Z | |
| dc.identifier | ASHTON-PROLLA, Patrícia; VARGAS, Fernando Regla. Prevalence and impact of founder mutations in hereditary breast cancer in Latin America. Genetics and Molecular Biology, v.37, n.1, (suppl), p.234-240, 2014. | |
| dc.identifier | 14154757 | |
| dc.identifier | https://www.arca.fiocruz.br/handle/icict/10323 | |
| dc.identifier | 10.1590/S1415-47572014000200009 | |
| dc.identifier.uri | https://repositorioslatinoamericanos.uchile.cl/handle/2250/8896592 | |
| dc.description | 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. | |
| dc.format | application/pdf | |
| dc.language | eng | |
| dc.publisher | Sociedade Brasileira de Genética | |
| dc.rights | open access | |
| dc.subject | Genes | |
| dc.subject | Câncer de mama | |
| dc.subject | Predisposição Genética para Doença | |
| dc.subject | Breast cancer genes | |
| dc.subject | BRCA1 | |
| dc.subject | BRCA2 | |
| dc.subject | TP53 | |
| dc.subject | Cancer predisposition | |
| dc.title | Prevalence and impact of founder mutations in hereditary breast cancer in Latin America | |
| dc.type | Article | |
