Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Cuba

Rodriguez, Rolando Comacho; Esperon, Antonio Alejandro; Ropero, Ramon; Rubio, Marcelo; Rodríguez, Ronald; Ortiz, Rosa María Bravo; Anta, Juan J. Lence; Rios, Mario de los; Carnesolta, Deyanira; Olivera, Maria C. del; Vansam, Somalia Stiu; Royer, Robert E.; Akbari, Mohammad Reza; Donenberg, Talia; Narod, Steven A.

doi:10.1007/s10689-008-9187-7

Cited by 32 publications

(33 citation statements)

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“…Reports from other South-American countries also find similar prevalence of BRCA mutations but smaller rates of recurrent mutations [45,50]. Solano et al evaluated BRCA gene sequences and large rearrangements in 940 Argentinian women with familial and/or personal history of breast/ovary cancer (including 230 patients without personal but with family history of cancer) and found that recurrent mutations represented only 15.08% of the total 179 mutations [39].…”

Section: Clinicomolecular Features Of Hostmentioning

confidence: 96%

“…Most Latin American studies identified a higher rate of BRCA1 than BRCA2 mutations [37], however studies from Costa Rica [43], Cuba [50], Puerto Rico [51] and Uruguay [46] reported the opposite finding. However, prevalence information could be underestimated due to methodology procedures.…”

Section: Clinicomolecular Features Of Hostmentioning

confidence: 97%

“…Several recent studies have evaluated BRCA mutation in Latin American countries, and some of them have documented prevalence studies in high-risk population and in unselected invasive BC cases in Mexico (six total studies, 6.3-23.0% in high risk, 4.3% in unselected) [34][35][36], Brazil (eight studies, 3.4-22.5%, 2.3%) [37][38], Argentina (two studies, 16.2-58.3%, unknown) [33,39], Colombia (five studies, 14.3-24.5%, 1.2-4.5%) [40][41], Chile (two studies, 7.1-20.4%, unknown) [42], Costa Rica (one study, 4.5%, unknown) [43], Cuba (one study, 2.6%, unknown) [44], Peru (one study, 4.9%, unknown) [45], Uruguay (one study, 17%, unknown) [46], Venezuela (one study,17.2%, unknown) [47], Trinidad and Tobago (one study, unknown, 10.4%) [48] and The Bahamas (one study, 27.1%, unknown) [49]. Most Latin American studies identified a higher rate of BRCA1 than BRCA2 mutations [37], however studies from Costa Rica [43], Cuba [50], Puerto Rico [51] and Uruguay [46] reported the opposite finding.…”

Section: Clinicomolecular Features Of Hostmentioning

confidence: 99%

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Genetics, Tumor Features and Treatment Response of Breast Cancer in Latinas

Castañeda

Castillo

Villarreal‐Garza

et al. 2018

Breast Cancer Manag.

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Practice pointsr Latinas with breast cancer have been associated with lower prevalence and higher mortality rates. r The access to healthcare system for Latinas has been described as lower than for white women. r Rates of grade III and triple-negative phenotype breast cancer are higher for Latinas than for white women. r BRCA mutation prevalence appears to be higher in Latinas than white women in the American population. r Distribution of BRCA mutation differs by country in Central, Latin America or Caribbean and recurrent mutations have been described in Mexico. r Finally, evaluated information about treatment efficacy and toxicity in Latinas with breast cancer indicate similar effects than in the white race.Breast cancer is a heterogeneous and genetic disease that has variability according to ethnicity and race with respect to incidence, clinical characteristics and prognosis. The incidence of breast cancer is lower but mortality is higher in Latinas than Caucasians in the US series. Risk factors appear to have different prevalence and impact in Latinas. Breast cancer in Latinas has particular clinic-pathological features including younger age, higher rates of triple-negative subtype and advanced stages. Molecular studies find that Latinas from every region have a specific BRCA incidence and a recurrent mutation, as well as differences in activity of molecular pathways. Treatment response rates and toxicity have also been compared, and no difference was found between Latinas and other ethnic groups.

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Section: Clinicomolecular Features Of Hostmentioning

confidence: 96%

Section: Clinicomolecular Features Of Hostmentioning

confidence: 97%

Section: Clinicomolecular Features Of Hostmentioning

confidence: 99%

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Genetics, Tumor Features and Treatment Response of Breast Cancer in Latinas

Castañeda

Castillo

Villarreal‐Garza

et al. 2018

Breast Cancer Manag.

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“…In the study performed by Rodriguez et al [24], the entire coding sequence of BRCA1 and BRCA2 was screened using a combination of PTT, DGGE, and sequencing analysis. Additionally, all samples were screened for four common mutations, BRCA1 185delAG and 5382insC and the BRCA2 6174delT mutations common to Ashkenazi Jews and others of eastern European ancestry, in a cohort of 307 patients with breast cancer.…”

Section: Cubamentioning

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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“…Resultados similares fueron obtenidos por Peto y colaboradores, quienes estimaron la frecuencia de las mutaciones de los genes BRCA en 0.01 a partir de un estudio de 617 casos con CGM (Peto et al, 1999). Otros estudios realizados en diferentes partes del mundo como en Brasil (Gómes et al, 2007), Cuba (Rodríguez et al, 2008), México (Torres-Mejía et al, 2015) y Perú (Abugattas et al, 2015) reportan una frecuencia de mutaciones en estos dos genes menor 0.05, similar a la reportada en Estados Unidos para la población blanca de origen no hispánico (Malone et al, 2006). En otros estudios de América Latina se observa un amplio rango de frecuencia en las mutaciones en BRCA1 y 2, la cual varía entre 0.01 y 0.27 (Dutil et al, 2015).…”

Section: Discussionunclassified

Frecuencia de las mutaciones en los genes BRCA en mujeres con agregación familiar de cáncer de glándula mamaria/ovario

Benavides-Cerquera

Bohorquez-Lozano

Quiroga

et al. 2016

PSM

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 RESUMEN: Objetivo: Reunir evidencias de la variación en la frecuencia de las mutaciones de BRCA1 y BRCA2 y la historia familiar en pacientes con cáncer de glándula mamaria (CGM) y cáncer de ovario (CO) de diferentes orígenes geográficos. Método: En este trabajo se realizó una revisión sistemática, siguiendo los parámetros del protocolo PRISMA, para estimar la prevalencia de mutaciones en los genes BRCA 1/2 en pacientes con CGM y CO, la incidencia de la historia familiar y la prevalencia observada en casos esporádicos en este tipo de cáncer. Resultados: Se observa una heterogeneidad en la frecuencia de las mutaciones de estos genes en los estudios de historia familiar, con una variación entre 0.0 y 0.48 en pacientes y familiares con CGM y CO similares a los previamente reportados. Discusión: Este amplio rango de la frecuencia se debe al origen de la población estudiada, el número de individuos analizados y la metodología de genotipificación utilizada. La revisión revela que el CGM y CO familiar es dos veces más frecuente, en comparación con los casos de esta misma patología con origen esporádico. Conclusiones: Este tipo de estudios moleculares les permite a las personas que presentan historia familiar con CGM y CO realizarse análisis precoces y chequeos para prevenir en un futuro el desarrollo de alguna de estas neoplasias. Palabras Clave: neoplasias de la mama, neoplasias ováricas, gen BRCA1, gen BRCA2, mutación, herencia. ABSTRACT: Objective: Collect evidence about the frequency variation of BRCA1 and BRCA2 mutations and family history in patients with mammary gland cancer (MGC) and ovarian cancer (OC) from different geographical backgrounds. Method: This paper presents a systematic review using the PRISMA protocol parameters to estimate the prevalence of mutations in BRCA 1/2 genes in patients with MGC and OC, the incidence of family history and the observed prevalence in sporadic cases with this type of cancer. Results: Heterogeneity is observed in the frequency of mutations of these genes in studies of family history ranging between 0.0 and 0.48 in patients and families with MGC and OC similar to those previously reported. Discussion: This wide range of frequency is due to the origin of the studied population, the number of individuals analyzed and genotyping methodology used. The review reveals that the family MGC and OC is twice as common compared with cases of the same disease of a sporadic origin. Conclusions: This type of molecular studies allows other people who have family history of MGC and OC to perform early analysis and tests to prevent the future development of this neoplasia.

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Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Cuba

Cited by 32 publications

References 21 publications

Genetics, Tumor Features and Treatment Response of Breast Cancer in Latinas

Genetics, Tumor Features and Treatment Response of Breast Cancer in Latinas

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

Frecuencia de las mutaciones en los genes BRCA en mujeres con agregación familiar de cáncer de glándula mamaria/ovario

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