BRCA1 and BRCA2 mutations in a South American population

Jara, Lilian; Ampuero, Sandra; Santibáñez, Eudocia; Seccia, L.; Rodríguez, Juan José Tavárez; Bustamante, Mario; Martı́nez, Vı́ctor; Catenaccio, Alejandra; Lay-Son, Guillermo; Blanco, Rafael; Reyes, José M.

doi:10.1016/j.cancergencyto.2005.08.019

Cited by 55 publications

(56 citation statements)

References 38 publications

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“…Mutation BRCA1 185delAG was the most prevalent, observed in 7 (54%) of the 13 mutation carriers, and is the most common founder mutation in the Ashkenazi Jewish population. It has also been reported in other population groups living in Mexico, Chile, and the Bahamas [19,29,30]. The frequency observed in Peru (54%) is the highest yet reported in nonselected populations in Latin America.…”

Section: Perumentioning

confidence: 62%

“…Six recurrent mutations (identified using single-strand conformation polymorphism gel electrophoresis [SSCP] and sequencing) have been described in the Chilean population by Jara et al [19]: three in BRCA1 (187delAG, 2605delTT, and 3450del4) and three in BRCA2 (4969insTG, 5374del4, and 6503delTT). Among these, BRCA1 3450del4 and BRCA2 6503delTT have also been reported, the first as a founder and the second as recurrent in the Colombian population, by Torres et al [12].…”

Section: Chilementioning

confidence: 99%

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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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Section: Perumentioning

confidence: 62%

Section: Chilementioning

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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“…Sin embargo, en estudios más recientes en esta misma población, se logró identificar la mutación en bajas frecuencias. Jara et al (20) analizaron esta mutación en 382 mujeres sanas con, al menos, dos familiares afectados por cáncer de mama, y encontraron una frecuencia de 0,26% (1/382) y, posteriormente, Jara et al (19) la encontraron en 3,12% (2/63) de familias seleccionadas por criterios de alto riesgo para la enfermedad.…”

Section: Características Histopatológicasunclassified

“…Estas dos mutaciones se han encontrado como fundadoras en población judía ashkenazi (13,14) con unas frecuencias de 32,3% (185delAG) y 6,5% (5382insC) en familias con cáncer de mama heredo-familiar (15). Además, la mutación 185delAG se ha hallado en Estados Unidos (16,17), España (11,18) y Chile (19,20), mientras que la mutación 5382insC se ha encontrado en Alemania (21), Italia (22,23) y Polonia (24), entre otros países europeos (es la mutación más frecuente en este continente), y en población latina en Brasil (25).…”

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Análisis de las mutaciones más frecuentes del gen BRCA1 (185delAG y 5382insC) en mujeres con cáncer de mama en Bucaramanga, Colombia

2009

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61Genética del cáncer de mama ARTÍCULO ORIGINAL Análisis de las mutaciones más frecuentes del gen BRCA1 (185delAG y 5382insC) en mujeres con cáncer de mama en Bucaramanga, Colombia Introducción. El cáncer de mama es un problema de salud pública a nivel mundial y en Santander es la primera causa de morbimortalidad por cáncer en mujeres. Todo cáncer se considera una enfermedad genética y las mutaciones en los genes BRCA confieren un riesgo de 60% a 80% para el cáncer de mama. Este estudio consistió en buscar las dos mutaciones BRCA1 más frecuentes según la base de datos Breast Cancer Core Information. Objetivo. Determinar la presencia de mutaciones específicas (185delAG, exón 2, y 5382insC, exón 20) en el gen BRCA1 en mujeres con cáncer de mama heredo-familiar, atendidas en los diferentes servicios de oncología de Bucaramanga, Colombia. Materiales y métodos. La muestra incluyó 30 pacientes, de las cuales se obtuvo un consentimiento informado, un cuestionario dirigido y sangre venosa para los estudios moleculares. El análisis molecular se realizó mediante PCR-mismatch, para introducir o eliminar sitios de restricción, y digestión enzimática (HinfI o DdeI). Resultados. No se detectaron dos de las mutaciones más frecuentes en el gen BRCA1 en las 30 pacientes estudiadas. Conclusión. Se requieren más estudios en la región que abarquen la tamización de la totalidad del gen BRCA1, para hacer una mayor contribución al conocimiento de la epidemiología molecular del cáncer de mama en Bucaramanga, Santander, Colombia.Palabras clave: neoplasias de la mama/genética, genes relacionados con las neoplasias, genes supresores, genes BRCA1, mutación de línea germinal, predisposición genética a la enfermedad. Mutations in the BRCA1 gene (185delAG and 5382insC) are not present in any of the 30 breast cancer patients analyzed from eastern ColombiaIntroduction. Breast cancer is considered a worldwide public health problem, and, in Santander Province, Colombia, it is the first leading cause of morbidity and mortality by cancer in women. All cancers are considered genetic diseases, and mutations in BRCA (BReast CAncer) genes raises the risk for breast cancer by 60%-80%. The current study searched for the two most frequent BRCA1 mutations reported in the Breast Cancer Core Information database. Objective. The presence of specific mutations (185delAG, exon 2 and 5382insC, exon 20) was determined for the BRCA1 gene in women with familial/hereditary breast cancer. Materials and methods. The sample included 30 female patients using the oncology services in Bucaramanga, eastern Colombia; an informed consent, a questionnaire and a blood sample were obtained from each. The molecular analysis was done with PCR-Mismatch, to detect the insertion or eliminatation of a restriction site, and enzymatic digestion methods (HinfI or DdeI). Results. Two of the most frequent BRCA1 mutations in the international database were not found in the 30 patients studied. Conclusion. Additional mutation screening techniques are necessary involving the entire BRCA1 gen...

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“…In fact, recent studies suggest a role of indigenous descent in patterns BRCA1 / 2 disease in Central and North America (16)(17)(18)(19)(20)(21). Epidemiological data indicate that in Argentina BC incidence and mortality (22) is among the highest in the world.…”

Section: Introductionmentioning

confidence: 99%

Frequency of Mutations in Brca1 and Brca2 Genes in Women with Breast Cancer in Córdoba, Argentina

Bella¹,

Llugdar²,

Bistoni³

et al. 2015

ARC Journal of Cancer Science

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BRCA1 and BRCA2 mutations in a South American population

Cited by 55 publications

References 38 publications

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

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

Análisis de las mutaciones más frecuentes del gen BRCA1 (185delAG y 5382insC) en mujeres con cáncer de mama en Bucaramanga, Colombia

Frequency of Mutations in Brca1 and Brca2 Genes in Women with Breast Cancer in Córdoba, Argentina

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