Breast cancer in six families from Tolima and Huila: BRCA1 3450del4 mutation

Biomédica

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Title Breast cancer in six families from Tolima and Huila: BRCA1 3450del4 mutation
Cáncer de mama en seis familias del Tolima y el Huila: mutación BRCA1 3450del4
 
Creator Benavides , Jennyfer
Suárez, Jonh
Estrada, Ana
Bohórquez, Mábel
Ramírez, Carolina
Olaya , Justo
Sánchez , Yesid
Mateus , Gilbert
Carvajal , Luis
Echeverry , María Magdalena
 
Subject Breast neoplasms/genetics
genes
BRCA1
mutation
chromosome deletion
neoplasias de la mama
genética
genes BRCA1
mutación
deleción cromosómica
 
Description Introduction: Breast cancer is a worldwide public health problem; between 5% and 10% of the cases present familial aggregation explained by genes of high risk such as BRCA1 and BRCA2. The founding origin of the deletion BRCA1 3450del4 in Colombia has been previously reported.Objective: To carry out in six families from Tolima and Huila departments a descriptive analysis of the presence of the BRCA1 3450del4 mutation associated with breast cancer and familial aggregation.Materials and methods: We conducted a descriptive and cross-sectional study of six index cases with breast cancer positive for BRCA1 3450del4 that fulfilled three of the criteria established by Jalkh, et al. The genealogical trees were made using the information of the interview data (GenoPro™, version 2016). The mutation was typified in healthy and affected relatives who agreed to participate.Results: Thirty of the 78 individuals selected by convenience in the six families presented the mutation BRCA1 3450del4 six of whom developed breast cancer, one, ovarian cancer, one ovarian and breast cancer, and one prostate cancer; 21 did not present any type of neoplasm at the time of the study. Of the 30 individuals carrying the pathogenic variant, six were men, 24 were women, and 13 of these were under 30.Conclusions: In this study of families with the deletion BRCA1 3450del4 in Tolima and Huila we confirmed its association with familial aggregation of breast cancer.
Introducción. El cáncer de mama es un problema mundial de salud pública; entre el 5 y el 10 % de los casos presentan agregación familiar, lo que se explicaría por la presencia de mutaciones en genes de alto riesgo como el BRCA1 y el BRCA2. El origen fundador de la deleción BRCA1 3450del4 en Colombia ya fue reportado.Objetivo. Hacer un análisis descriptivo de seis familias del del Tolima y del Huila con la deleción BRCA1 3450del4 de la asociación de la mutación germinal, con el cáncer de mama y la agregación familiar.Materiales y métodos. Se hizo un estudio descriptivo y transversal de seis casos índice con cáncer de mama positivos para BRCA1 3450del4, que cumplían tres de los criterios establecidos por Jalkh, et al. A partir de la información de las entrevistas, se realizaron los árboles genealógicos (GenoPro™, versión 2016). Se tipificó la mutación en familiares sanos y afectados que aceptaron participar.Resultados. De los 78 individuos seleccionados por conveniencia en las seis familias, 30 presentaron la mutación BRCA1 3450del4; de ellos, seis tenían cáncer de mama, uno, cáncer de ovario, uno, cáncer de mama y ovario, y otro, cáncer de próstata; 21 no presentaban neoplasias. De los 30 individuos portadores de la variante patogénica, seis eran hombres y 24 mujeres, 13 de ellas menores de 30 años.Conclusiones. En este estudio se confirmó la asociación de la deleción BRCA1 3450del4 con el cáncer de mama de agregación familiar.
 
Publisher Instituto Nacional de Salud
 
Date 2020-03-01
 
Type info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
 
Format application/pdf
text/xml
 
Identifier https://revistabiomedica.org/index.php/biomedica/article/view/4673
10.7705/biomedica.4673
 
Source Biomedica; Vol. 40 No. 1 (2020); 185-194
Biomédica; Vol. 40 Núm. 1 (2020); 185-194
2590-7379
0120-4157
 
Language spa
 
Relation https://revistabiomedica.org/index.php/biomedica/article/view/4673/4361
https://revistabiomedica.org/index.php/biomedica/article/view/4673/4548
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Rights Derechos de autor 2020 Biomédica
https://creativecommons.org/licenses/by/4.0
 

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