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abstract
June 10, 2016
Background.
Numerous epidemiological factors affect
the probability of developing breast or ovarian cancer, but no
predictor is as determinant
as inheriting a mutation in BRCA1 or BRCA2.
The concept of the founder effect explains the reduced genetic
variability in some populations, according to the theory
that new populations can be formed from a
reduced number of individuals, so the new population would carry only a
small fraction
of the genetic variability of the original
population. The main purpose of this review is to provide an update on
the state
of the art in founder mutations and some
recurrent mutations that have recently been described in Latin America.
Methods.
A literature search was performed in the electronic databases of PUBMED, EMBASE, LILACS, and BIREME using the terms BRCA1, BRCA2, founder mutation, Latin American population, and Hispanic. Sixty-two papers were identified, of which 38 were considered
relevant for this review. Each result is shown per country.
Results.
In Latin America, clear founder effects have been reported in Mexico (BRCA1 del exons 9–12), Brazil (BRCA1 5382insC and BRCA2 c.156_157insAlu), and Colombia (BRCA1 3450del4, A1708E, and BRCA2 3034del4) and in Latinas residing in Southern California (BRCA1 185delAG, IVS5+1G>A, S955x, and R1443x). Of these, mutation BRCA1 3450del4 has also been reported in Brazil and Chile, whereas mutation BRCA2
3034del4 has been reported in Argentina and Peru. These data support
the idea that although most Hispanic populations are
the result of a mixture between Europeans,
Africans, and Amerindians, the relative proportion of each genetic
component varies
throughout the Hispanic populations, making it
necessary to identify the mutations characteristic of each population to
generate
mutation profiles adjusted to each one of them.
Conclusion.
In Latin American countries, and even
among regions of the same country, there is great heterogeneity of
ancestors. Therefore,
Latinas should not be analyzed like other
population groups without taking into account their genetic ancestry.
The presence
of founder mutations in specific population
groups represents a cost-effective analysis. The importance of
determining the
founder mutations lies mainly in the decrease in
costs. If we manage to decrease costs, screenings could be offered more
widely
and cover a larger number of women.
Implications for Practice:
Hispanic and African-American
populations are four to five times less likely than other populations
worldwide to receive screening
for BRCA mutations, a main reason being the high costs of these tools. The present study seeks to identify the prevalent mutations
and the founder effect in the BRCA gene in the Hispanic population to address specific panels for this population group in the future and develop strategies
for population screening.
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