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| Jara,Lilian; Morales,Sebastian; Mayo,Tomas de; Gonzalez–Hormazabal,Patricio; Carrasco,Valentina; Godoy,Raul. |
| Abstract Breast cancer (BC) is the most common malignancy among women worldwide. A major advance in the understanding of the genetic etiology of BC was the discovery of BRCA1 and BRCA2 (BRCA1/2) genes, which are considered high-penetrance BC genes. In non-carriers of BRCA1/2 mutations, disease susceptibility may be explained of a small number of mutations in BRCA1/2 and a much higher proportion of mutations in ethnicity-specific moderate- and/or low-penetrance genes. In Central and South American populations, studied have focused on analyzing the distribution and prevalence of BRCA1/2 mutations and other susceptibility genes that are scarce in Latin America as compared to North America, Europe, Australia, and Israel. Thus, the aim of this review is to... |
| Tipo: Journal article |
Palavras-chave: Hereditary and early onset breast cancer; Susceptibility genes; Pathogenic point mutations; Large genomic rearrangements; Ethnic composition. |
| Ano: 2017 |
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602017000100505 |
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