BRCA1 and BRCA2mutations in breast cancer patients from Venezuela

Lara, Karlena; Consigliere, Nigmet; Pérez, Jorge; Porco, Antonietta

doi:10.4067/s0716-97602012000200003

Cited by 25 publications

(24 citation statements)

References 37 publications

(28 reference statements)

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“…Two other individuals harbored the BRCA2 3036del4 mutation which has been reported 111 times in families from Europe and North American countries. This mutation is the most frequent BRCA2 founder mutation in Spain, which could explain the presence of this mutation in Latin American countries [23]. In addition, the BRCA1 3878delTA mutation has been reported twice in individuals of Latin American ancestry in the BIC database.…”

Section: Discussionmentioning

confidence: 99%

Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Peru

et al. 2014

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The prevalence of BRCA1 and BRCA2 mutations among breast cancer patients in Peru has not yet been explored. We enrolled 266 women with breast cancer from a National cancer hospital in Lima, Peru, unselected for age or family history. DNA was screened with a panel of 114 recurrent Hispanic BRCA mutations (HISPANEL). Among the 266 cases, thirteen deleterious mutations were identified (eleven in BRCA1 and two in BRCA2), representing 5% of the total. The average age of breast cancer in the mutation-positive cases was 44 years. BRCA1 185delAG represented seven of the eleven mutations in BRCA1. Other mutations detected in BRCA1 included: two 2080delA, one 943ins10, and one 3878delTA. The BRCA2 3036del4 mutation was seen in two patients. Given the relatively low cost of the HISPANEL test, one should consider offering this test to all Peruvian women with breast or ovarian cancer.

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Section: Discussionmentioning

confidence: 99%

Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Peru

et al. 2014

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“…A number of studies have evaluated the prevalence of BRCA mutations in breast cancer patients in several Latin American countries, including Argentina, Brazil, Chile, Colombia, Costa Rica, Mexico, Uruguay, and Venezuela [10–21]. The presence of founder mutations within a defined ethnic group enables rapid and low-cost screening, compared to the cost of the complete sequencing of both BRCA genes [22], but screening only for founder mutations is contingent on a high proportion of all mutations being recurrent.…”

Section: Introductionmentioning

confidence: 99%

The prevalence of BRCA1 and BRCA2 mutations among young Mexican women with triple-negative breast cancer

Villarreal‐Garza

Weitzel

Llacuachaqui

et al. 2015

Breast Cancer Res Treat

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Various guidelines recommend that women with triple-negative breast cancer should be tested for BRCA1 mutations, but the prevalence of mutations may vary with ethnic group and with geographic region, and the optimal cutoff age for testing has not been established. We estimated the frequencies of BRCA1 and BRCA2 (BRCA) mutations among 190 women with triple-negative breast cancer, unselected for family history, diagnosed at age 50 or less at a single hospital in Mexico City. Patients were screened for 115 recurrent BRCA mutations, which have been reported previously in women of Hispanic origin, including a common large rearrangement Mexican founder mutation (BRCA1 ex9-12del). A BRCA mutation was detected in 44 of 190 patients with triple-negative breast cancer (23 %). Forty-three mutations were found in BRCA1 and one mutation was found in BRCA2. Seven different mutations accounted for 39 patients (89 % of the total mutations). The Mexican founder mutation (BRCA1 ex9-12del) was found 18 times and accounted for 41 % of all mutations detected. There is a high prevalence of BRCA1 mutations among young triple-negative breast cancer patients in Mexico. Women with triple-negative breast cancer in Mexico should be screened for mutations in BRCA1.

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“…Lara et al [32] evaluated 58 high-risk families (using SSCP and sequencing) and found a positive rate of 17.2%, including 6 patients with mutations in BRCA1 (10.3%) and 4 in BRCA2 (6.9%), but none were recurrent.…”

Section: Venezuelamentioning

confidence: 99%

Founder and Recurrent Mutations in BRCA1 and BRCA2 Genes in Latin American Countries: State of the Art and Literature Review

Ossa

Torres

2016

The Oncologist

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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

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BRCA1 and BRCA2mutations in breast cancer patients from Venezuela

Cited by 25 publications

References 37 publications

Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Peru

Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Peru

The prevalence of BRCA1 and BRCA2 mutations among young Mexican women with triple-negative breast cancer

Founder and Recurrent Mutations in BRCA1 and BRCA2 Genes in Latin American Countries: State of the Art and Literature Review

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