Análisis de la prevalencia de las mutaciones BRCA1 y BRCA2 en Colombia en el período 2014-2018
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2018
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Ediciones Universidad Simón Bolívar
Facultad de Ciencias de la Salud
Facultad de Ciencias de la Salud
Resumen
Antecedentes: El riesgo de desarrollar cáncer de mama y cáncer de ovario puede transmitirse en familias que porten mutaciones en los genes BRCA1 o BRCA2. Se han reportado tres mutaciones fundadoras en BRCA1 / 2 en Colombia, pero se desconoce el patrón de mutaciones en otros genes de susceptibilidad al cáncer.
Objetivos: Describir los tipos de mutaciones en BRCA1 y BRCA2 en mujeres colombianas con cáncer de mama.
Materiales y Métodos: Revisión sistemática. Para la realización de este trabajo se realizó búsqueda de palabras clave (BRCA + COLOMBIA) en las bases de datos de Medline, Cochrane, Pubmed.
Resultados: Los resultados de la revisión bibliográfica sobre el cáncer de mama en Colombia se pudo evidenciar que del 100% de la muestra que corresponde a 311
personas, de las cuales 8 mutaciones corresponden al gen BRCA1, distribuido de la siguiente manera, c.213-12A>G (1%), c.68_69del AG (0%), c.1674del (1%), c.5123C>A (0%), c.3770_3771del (0%), 3450del4 (3%), 3450 delCAAG (14%), A1708E (11%) , y otras mutaciones corresponde un (38%), 8 mutaciones corresponden al gen BRCA2, Exón 15:16 (0%), c.5616-5620delAGTAA (0%), c.9246dupG (2%), c.6024dupG (0%), 1991del4 (0%), C5972T (4%), 3034 delACAA (4%), 3034del4 (0%), 5844del5 (0%) y otras mutaciones (21%).
Conclusiones: En Colombia aún no se encuentra un estudio que nos dé resultados exactos sobre el promedio del grupo etario de personas con cáncer de mama y su mutación específica para los genes BRCA, a diferencia de países como Paraguay, España y Chile que cuentan con métodos investigativos más eficaces y específicos para realizar este tipo de estudios que sirven para identificar no solo las mutaciones más frecuentes de los genes BRCA si no también la edad promedio de aparición del cáncer de mama, que sirve para un diagnóstico y tratamiento más específico.
Background: The risk of developing breast cancer and ovarian cancer can be transmitted in families carrying mutations in the BRCA1 or BRCA2 genes. The fundamental mutations in BRCA1 / 2 have been reported in Colombia, but the pattern of mutations in other cancer susceptibility genes is unknown. Objective: To describe the types of mutations in the germ line in hereditary genes of mother and / or ovarian cancer (BRCA1 / 2) in Colombian women, based on a bibliographical review of scientific articles. Materials and Methods: Systematic review. To carry out this work, a keyword search (BRCA + COLOMBIA) was carried out in the databases of Medline, Cochrane, Pubmed. Results: The results of the bibliographical review on the cancer of breast in Colombia it was possible to demonstrate that of 100 % of the sample that corresponds to 311 persons, of which 8 mutations correspond to the gene BRCA1, distributed of the following way, c.213-12A> G (1%), c.68_69del AG (0%), c.1674del (1%), c.5123C> To (0%), c.3770_3771del (0%), 3450del4 (3%), 3450 delCAAG (14%), A1708E (11%), and other mutations there corresponds one (38 %), 8 mutations correspond to the gene BRCA2, Exón 15:16 (0%), c.5616-5620delAGTAA (0%), c.9246dupG (2%), c.6024dupG (0%), 1991del4 (0%), C5972T (4 %), 3034 delACAA (4%), 3034del4 (0%), 5844del5 (0%) and other mutations (21%) Conclusions: In Colombia a study is not yet found that the exact results on on the average of the group etario of persons with cancer of breast and his specific mutation for the genes BRCA, unlike countries as Paraguay, Spain and Chile that they possess methods investigativos more effective and specific to realize this type of studies that serve to identify not only the most frequent mutations of the genes BRCA if not also the average age of appearance of the cancer of breast, which serves for a diagnosis and more specific treatment
Background: The risk of developing breast cancer and ovarian cancer can be transmitted in families carrying mutations in the BRCA1 or BRCA2 genes. The fundamental mutations in BRCA1 / 2 have been reported in Colombia, but the pattern of mutations in other cancer susceptibility genes is unknown. Objective: To describe the types of mutations in the germ line in hereditary genes of mother and / or ovarian cancer (BRCA1 / 2) in Colombian women, based on a bibliographical review of scientific articles. Materials and Methods: Systematic review. To carry out this work, a keyword search (BRCA + COLOMBIA) was carried out in the databases of Medline, Cochrane, Pubmed. Results: The results of the bibliographical review on the cancer of breast in Colombia it was possible to demonstrate that of 100 % of the sample that corresponds to 311 persons, of which 8 mutations correspond to the gene BRCA1, distributed of the following way, c.213-12A> G (1%), c.68_69del AG (0%), c.1674del (1%), c.5123C> To (0%), c.3770_3771del (0%), 3450del4 (3%), 3450 delCAAG (14%), A1708E (11%), and other mutations there corresponds one (38 %), 8 mutations correspond to the gene BRCA2, Exón 15:16 (0%), c.5616-5620delAGTAA (0%), c.9246dupG (2%), c.6024dupG (0%), 1991del4 (0%), C5972T (4 %), 3034 delACAA (4%), 3034del4 (0%), 5844del5 (0%) and other mutations (21%) Conclusions: In Colombia a study is not yet found that the exact results on on the average of the group etario of persons with cancer of breast and his specific mutation for the genes BRCA, unlike countries as Paraguay, Spain and Chile that they possess methods investigativos more effective and specific to realize this type of studies that serve to identify not only the most frequent mutations of the genes BRCA if not also the average age of appearance of the cancer of breast, which serves for a diagnosis and more specific treatment
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Palabras clave
Cáncer de mama, Genes, Marcadores tumorales, Incidencia, Breast cancer, Genes, Tumor markers, Incidenc
