Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations
Date
2017
Type:
Artículo
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18
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Publisher
BioMed Central
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Abstract
Breast cancer (BC) is the most common malignancy among women worldwide. A major advance in the understand‑
ing 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-specifc moderate- and/or
low-penetrance genes. In Central and South American populations, studied have focused on analyzing the distribu‑
tion and prevalence of BRCA1/2 mutations and other susceptibility genes that are scarce in Latin America as com‑
pared to North America, Europe, Australia, and Israel. Thus, the aim of this review is to present the current state of
knowledge regarding pathogenic BRCA variants and other BC susceptibility genes. We conducted a comprehensive
review of 47 studies from 12 countries in Central and South America published between 2002 and 2017 reporting
the prevalence and/or spectrum of mutations and pathogenic variants in BRCA1/2 and other BC susceptibility genes.
The studies on BRCA1/2 mutations screened a total of 5956 individuals, and studies on susceptibility genes analyzed a
combined sample size of 11,578 individuals. To date, a total of 190 diferent BRCA1/2 pathogenic mutations in Central
and South American populations have been reported in the literature. Pathogenic mutations or variants that increase
BC risk have been reported in the following genes or genomic regions: ATM, BARD1, CHECK2, FGFR2, GSTM1, MAP3K1,
MTHFR, PALB2, RAD51, TOX3, TP53, XRCC1, and 2q35.
Description
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Citation
Jara L, Morales S, de Mayo T, Gonzalez-Hormazabal P, Carrasco V, Godoy R. Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations. Biol Res. 2017 Oct 6;50(1):35.
Keywords
Hereditary and early onset breast cancer, Susceptibility genes, Pathogenic point mutations, Large genomic rearrangements, Ethnic composition