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Cáncer de mama en seis familias del Tolima y el Huila: mutación BRCA1 3450del4

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...

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Autores principales: Benavides, Jennyfer, Suárez, John, Estrada, Ana, Bohórquez, Mábel, Ramírez, Carolina, Olaya, Justo, Sánchez, Yesid, Mateus, Gilbert, Carvajal, Luis, Echeverry, María Magdalena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Instituto Nacional de Salud 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7357381/
https://www.ncbi.nlm.nih.gov/pubmed/32220173
http://dx.doi.org/10.7705/biomedica.4673
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author Benavides, Jennyfer
Suárez, John
Estrada, Ana
Bohórquez, Mábel
Ramírez, Carolina
Olaya, Justo
Sánchez, Yesid
Mateus, Gilbert
Carvajal, Luis
Echeverry, María Magdalena
author_facet Benavides, Jennyfer
Suárez, John
Estrada, Ana
Bohórquez, Mábel
Ramírez, Carolina
Olaya, Justo
Sánchez, Yesid
Mateus, Gilbert
Carvajal, Luis
Echeverry, María Magdalena
author_sort Benavides, Jennyfer
collection PubMed
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.
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spelling pubmed-73573812020-07-20 Cáncer de mama en seis familias del Tolima y el Huila: mutación BRCA1 3450del4 Benavides, Jennyfer Suárez, John Estrada, Ana Bohórquez, Mábel Ramírez, Carolina Olaya, Justo Sánchez, Yesid Mateus, Gilbert Carvajal, Luis Echeverry, María Magdalena Biomedica Comunicación Breve 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. Instituto Nacional de Salud 2020-03-30 /pmc/articles/PMC7357381/ /pubmed/32220173 http://dx.doi.org/10.7705/biomedica.4673 Text en https://creativecommons.org/licenses/by/4.0/ Este es un artículo publicado en acceso abierto bajo una licencia Creative Commons
spellingShingle Comunicación Breve
Benavides, Jennyfer
Suárez, John
Estrada, Ana
Bohórquez, Mábel
Ramírez, Carolina
Olaya, Justo
Sánchez, Yesid
Mateus, Gilbert
Carvajal, Luis
Echeverry, María Magdalena
Cáncer de mama en seis familias del Tolima y el Huila: mutación BRCA1 3450del4
title Cáncer de mama en seis familias del Tolima y el Huila: mutación BRCA1 3450del4
title_full Cáncer de mama en seis familias del Tolima y el Huila: mutación BRCA1 3450del4
title_fullStr Cáncer de mama en seis familias del Tolima y el Huila: mutación BRCA1 3450del4
title_full_unstemmed Cáncer de mama en seis familias del Tolima y el Huila: mutación BRCA1 3450del4
title_short Cáncer de mama en seis familias del Tolima y el Huila: mutación BRCA1 3450del4
title_sort cáncer de mama en seis familias del tolima y el huila: mutación brca1 3450del4
topic Comunicación Breve
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7357381/
https://www.ncbi.nlm.nih.gov/pubmed/32220173
http://dx.doi.org/10.7705/biomedica.4673
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