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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.Conclusions:  The spectrum of 44 different mutations in Colombia as detected in our study is broader than the one previously reported for this country. "Profile Colombia" is a useful screening test to establish both founder and new mutations (detection rate of 10.7%) in cases with family history of breast cancer. Complete sequencing shows a detection rate of 16.0%, and should complement the study of the genetic basis of this disease.

Ignacio Briceño-Balcázar, Universidad de la Sabana, Chía, Colombia

Escuela de Medicina, Universidad de la Sabana, Chía, Colombia

Alberto Gómez-Gutiérrez, Pontificia Universidad Javeriana, Bogotá, Colombia.

Instituto de Genetica Humana. Escuela de Medicina, Pontificia Universidad Javeriana, Bogotá, Colombia.

Natalia Andrea Díaz-Dussán, Escuela de Medicina, Universidad de la Sabana, Chía, Colombia

School of Medicine Intern, XIV semester, Universidad de la Sabana

María Claudia Noguera-Santamaría, Instituto de Genetica Humana. Escuela de Medicina, Pontificia Universidad Javeriana, Bogotá, Colombia.

Instituto de Genetica Humana. Escuela de Medicina, Pontificia Universidad Javeriana, Bogotá, Colombia.

Diego Díaz-Rincón, Instituto de Referencia Andino, Bogotá, Colombia.

Instituto de Referencia Andino, Bogotá, Colombia.

María Consuelo Casas-Gómez, Instituto de Referencia Andino, Bogotá, Colombia.

Instituto de Referencia Andino, Bogotá, Colombia.
Briceño-Balcázar, I., Gómez-Gutiérrez, A., Díaz-Dussán, N. A., Noguera-Santamaría, M. C., Díaz-Rincón, D., & Casas-Gómez, M. C. (2017). Mutational spectrum in breast cancer associated BRCA1 and BRCA2 genes in Colombia. Colombia Medica, 48(2), 58–63. https://doi.org/10.25100/cm.v48i2.1867

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Received 2015-01-22
Accepted 2017-06-02
Published 2017-06-28