%0 Journal Article
%A Briceño Balcázar, Ignacio
%A Gómez Gutiérrez, Alberto
%A Díaz Dussán, Natalia Andrea
%A Noguera Santamaría, María Claudia
%A Díaz Rincón, Diego
%A Casas Gómez, María Consuelo
%8 2017-06-02
%@ 1657-9534
%U http://hdl.handle.net/10818/32817
%X Introduction:  The  risk  of  developing  breast  and  ovarian  cancer  is  higher in families that carry mutations in BRCA1 or BRCA2 genes, and timely mutation detection is critical.Objective: To identify the presence of mutations in the Colombian population and evaluate two testing strategies.Methods:  From a total universe of 853 individual blood samples tests referred for BRCA1 and BRCA2 typing, 256 cases were analyzed by complete  direct  sequencing  of  both  genes  in  Myriad  Genetics,  and  the  remaining  597  cases  were  studied  by  partial  sequencing  based  on founder mutations in a PCR test designed by ourselves ("Profile Colombia").Results:   We found 107 patients carrying deleterious mutations in this group of patients, 69 (64.5%) located in BRCA1, and 38 (35.5%) in BRCA2. Overall, we detected 39 previously unreported mutations in  Colombia  (22  in  BRCA1  and  17  in  BRCA2)  and  only  4  out  of  the  6  previously  reported  founder  mutations.  Sixty  four  out  of  597  patients (10.7%) studied by "Profile Colombia" showed mutations in BRCA1 or BRCA2, and 41/256 patients (16%) showed mutations by complete BRCA1-BRCA2 sequencing.
%I Colombia Médica
%K Breast cancer
%K BRCA1
%K BRCA2
%K Mutation
%K Diagnostic test
%K Colombia
%T Mutational spectrum in breast cancer associated BRCA1 and BRCA2 genes in Colombia
%R 10.25100/cm.v48i2.1867
%~ Intellectum