Prevalencia de mutación y de variantes de secuencia para los genes BRCA1 y BRCA2 en una muestra de mujeres colombianas con sospecha de síndrome de cáncer de mama hereditario: serie de casos

Arias-Blanco, Juan Felipe; Ospino-Durán, Eder Alonso; Restrepo-Fernández, Carlos M.; Guzman-Abisaab, Luis; Fonseca-Mendoza, Dora Janeth; Ángel-Guevara, Diana Isabel; Garzón-Venegas, Eliana del Pilar; Gamboa-Garay, Óscar; Obregón-Tito, Alexandra J.; Gómez-Parrado, Yenny

doi:10.18597/rcog.294

Cited by 4 publications

(4 citation statements)

References 16 publications

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“…The spectrum of mutations found in this study is different from that reported in previous studies, which evaluated patients from the central region of Colombia 12,22,49,50 . We suggest that the main reason for this difference between studies, is that the Colombian population is the result of a complex process of admixture between European, African and Native Americans, in varying degrees, depending on the region 28 .…”

Section: Discussioncontrasting

confidence: 99%

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BRCA1 and BRCA2 mutations in breast and ovarian cancer families from south west Colombia

2019

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Introduction: Breast cancer is the most common neoplasia of women from all over the world especially women from Colombia. 5%10% of all cases are caused by hereditary factors, 25% of those cases have mutations in the BRCA1/BRCA2 genes. Objective: The purpose of this study was to identify the mutations associated with the risk of familial breast and/or ovarian cancer in a population of Colombian pacific. Methods: 58 high-risk breast and/or ovarian cancer families and 20 controls were screened for germline mutations in BRCA1 and BRCA2, by Single Strand Conformation Polymorphism (SSCP) and sequencing. Results: Four families (6.9%) were found to carry BRCA1 mutations and eight families (13.8%) had mutations in BRCA2. In BRCA1, we found three Variants of Uncertain Significance (VUS), of which we concluded, using in silico tools, that c.8112C>G and c.3119G>A (p.Ser1040Asn) are probably deleterious, and c.3083G>A (p.Arg1028His) is probably neutral. In BRCA2, we found three variants of uncertain significance: two were previously described and one novel mutation. Using in silico analysis, we concluded that c.865A>G (p.Asn289Asp) and c.6427T>C (p.Ser2143Pro) are probably deleterious and c.125A>G (p.Tyr42Cys) is probably neutral. Only one of them has previously been reported in Colombia. We also identified 13 polymorphisms (4 in BRCA1 and 9 in BRCA2), two of them are associated with a moderate increase in breast cancer risk (BRCA2 c.1114A>C and c.875566T>C). Conclusion: According to our results, the Colombian pacific population presents diverse mutational spectrum for BRCA genes that differs from the findings in other regions in the country.

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Section: Discussioncontrasting

confidence: 99%

“…This mutation has been reported 13 times in the BIC database, 6 of these reports are from Latin America. Additionally, Arias-Blanco et al, reported this mutation in the Colombian population 22 .…”

Section: Brca1 Mutationsmentioning

confidence: 92%

BRCA1 and BRCA2 mutations in breast and ovarian cancer families from south west Colombia

2019

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“…On the other hand, the actual prevalence of BRCA mutations is not well known among the various towns and regions of Latin America. There are varying results in different populations within the same country and in populations selected by genetic risk criteria [43, 44].…”

Section: Clinical Presentation and Natural Historymentioning

confidence: 99%

Triple-negative breast cancer: the reality in Chile and in Latin America

Caglevic

Anabalón

Soza

et al. 2019

ecancer

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Breast cancer is the leading cause of cancer death among women worldwide. While triple-negative breast cancer is less common among various sub-types of breast cancer, it tends to affect younger women and is more aggressive, having a higher rate of early recurrence and mortality compared to other sub-types. We know about the association between triple-negative breast cancer and BRCA mutations, which are highly prevalent in founding populations of European origin, but the true prevalence of these mutations in Latin American populations is unknown. There is also very little information about the demographic and epidemiological aspects of triple-negative breast cancer in Latin America, which we will try to summarise in this article. In addition, we will try to provide a brief introduction to the most common recommendations for treating this histological class in Latin America.

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“…En cuanto a los primeros, se han descrito mutaciones en genes de alta penetrancia como BRCA1, BRCA2, TP53; y genes de baja penetrancia como RAD51, XRCC3 y ATM. Las funciones de estos genes están relacionadas con la reparación del ácido desoxirribonucleico (ADN) y control del ciclo celular (5)(6)(7)(8)(9)(10)(11).…”

Section: Introductionunclassified

Interacciones génicas implicadas en la aparición anticipada de cáncer de mama invasor en la población “paisa” - Colombia

Martínez-Garro

Valle

Duque-Giraldo

et al. 2019

CES Med

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El cáncer de mama invasor es una neoplasia de origen multifactorial en el cual están involucrados tanto componentes genéticos, como no genéticos, los cuales pueden modular su aparición temprana. El objetivo de este estudio es evaluar la participación de los componentes genéticos. Metodología: se analizaron 165 mujeres con cáncer de mama pertenecientes a la población “paisa” y estratificadas por edad de diagnóstico. Se evaluaron variables no genéticas y, de forma indirecta, variables genéticas usando marcadores tipo short tándem repeats (STR). Resultados: no se detectaron diferencias en cuanto a los factores de riesgo no genético entre pacientes mayores y menores de 50 años, ni al evaluar los genes de forma individual. Al comparar combinaciones genéticas se detectaron dos interacciones génicas en mujeres menores de 50 años: BRCA2-BRCA1 (p= 0,04) y BRCA2-ATM (p= 0,008). Conclusión: estos resultados sugieren la participación de la interacción de dichos genes en la aparición de cáncer de mama antes de los 50 años. Dado que el estudio se hizo con marcadores indirectos es necesario realizar estudios posteriores para identificar las mutaciones funcionales que soporten estos hallazgos.

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Prevalencia de mutación y de variantes de secuencia para los genes BRCA1 y BRCA2 en una muestra de mujeres colombianas con sospecha de síndrome de cáncer de mama hereditario: serie de casos

Cited by 4 publications

References 16 publications

BRCA1 and BRCA2 mutations in breast and ovarian cancer families from south west Colombia

BRCA1 and BRCA2 mutations in breast and ovarian cancer families from south west Colombia

Triple-negative breast cancer: the reality in Chile and in Latin America

Interacciones génicas implicadas en la aparición anticipada de cáncer de mama invasor en la población “paisa” - Colombia

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