Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Medellín, Colombia
Authors:
- Julián Esteban Londoño HernándezJHJulián Esteban Londoño Hernández
- Marcia LlacuachaquiMLMarcia Llacuachaqui
- Gonzalo Vásquez PalacioGPGonzalo Vásquez Palacio
- Juan David FigueroaJFJuan David Figueroa
- Jorge MadridJMJorge Madrid
- Mauricio LemaMLMauricio Lema
- Robert RoyerRRRobert Royer
- Song LiSLSong Li
- Garrett LarsonGLGarrett Larson
- Jeffrey N WeitzelJWJeffrey N Weitzel
- Steven A NarodSteven A Narod
Open Access
- 17 April 2014
- journal article
- research article
- Published by Springer Nature in Hereditary Cancer in Clinical Practice
- Vol. 12 (1) , 11
Abstract
Approximately 5% of all breast cancers can be attributed to a mutation in the BRCA1 or BRCA2 gene. The genetic component of breast cancer in Colombia has been, for the most part, studied on cases from the Bogota region. Five different founder mutations have been identified in two studies of breast cancer patients in the Bogota region. It is important that the frequency of mutations be established among unselected cases of breast cancer of other regions of Colombia in order to estimate the genetic burden of this cancer in Colombia and to plan genetic services. The aim of this study was to establish the mutation frequencies of the BRCA genes in breast cancer patients unselected for family history or age, from Medellin, Colombia.Keywords
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