Mutational analysis of BRCA1 and BRCA2 genes in women with familial breast cancer from different regions of Colombia.

The main risk factor for familial breast cancer is the presence of mutations in BRCA1 and BRCA2 genes. The prevalence of mutations in these genes is heterogeneous and varies according to geographical origin of studied families. In Colombia mutations in these genes have been mainly studied on patient...

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Autores:
Cortés C
Rivera AL
Trochez D
Solarte M
Gómez D
Cifuentes Cardona, Laura Fernanda
Barreto G
Tipo de recurso:
Article of journal
Fecha de publicación:
2023
Institución:
Universidad Cooperativa de Colombia
Repositorio:
Repositorio UCC
Idioma:
OAI Identifier:
oai:repository.ucc.edu.co:20.500.12494/50842
Acceso en línea:
https://doi.org/10.1186/s13053-019-0120-x
https://www.scopus.com/inward/record.uri?eid=2-s2.0-85069179967&doi=10.1186%2fs13053-019-0120-x&partnerID=40&md5=5ed95ca87792f3d7a218c82536fdb3d1
https://hdl.handle.net/20.500.12494/50842
Palabra clave:
BRCA1
BRCA2
BREAST CANCER
FAMILIAL CANCER
GERMLINE MUTATIONS
Rights
openAccess
License
http://purl.org/coar/access_right/c_abf2
Description
Summary:The main risk factor for familial breast cancer is the presence of mutations in BRCA1 and BRCA2 genes. The prevalence of mutations in these genes is heterogeneous and varies according to geographical origin of studied families. In Colombia mutations in these genes have been mainly studied on patients from Andean region. Bogot and Medellin presented its own battery of mutations. This study aims to identify mutations in BRCA1-2 genes in women with familial breast cancer from different regions of Colombia.