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dc.contributor.authorBriceño Balcázar, Ignacio
dc.contributor.authorGómez Gutiérrez, Alberto
dc.contributor.authorDíaz Dussán, Natalia Andrea
dc.contributor.authorNoguera Santamaría, María Claudia
dc.contributor.authorDíaz Rincón, Diego
dc.contributor.authorCasas Gómez, María Consuelo
dc.date.accessioned2018-04-23T16:28:34Z
dc.date.available2018-04-23T16:28:34Z
dc.date.issued2017-06-02
dc.identifier.citationBriceño Balcázar, I., Gómez Gutiérrez, A., Díaz Dussán, NA., Noguera Santamaría, MC., Díaz Rincón, D., Casas Gómez., MC. (2017). Mutational spectrum in breast cancer associated BRCA1 and BRCA2 genes in Colombia. Colombia Médica. 48(2), 58-63.es_CO
dc.identifier.issn1657-9534
dc.identifier.otherhttp://colombiamedica.univalle.edu.co/index.php/comedica/article/view/1867
dc.identifier.otherhttp://colombiamedica.univalle.edu.co/index.php/comedica/article/view/1867/3415
dc.identifier.urihttp://hdl.handle.net/10818/32817
dc.description6 páginases_CO
dc.description.abstractIntroduction: 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.spa
dc.description.abstractIntroduction: 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.eng
dc.formattext/plaines_CO
dc.language.isospaes_CO
dc.publisherColombia Médicaes_CO
dc.relation.ispartofseriesColombia Médica - Vol. 48 Nº2 2017
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 International*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/*
dc.sourceUniversidad de La Sabanaes_CO
dc.sourceIntellectum Repositorio Universidad de La Sabanaes_CO
dc.subjectBreast canceres_CO
dc.subjectBRCA1es_CO
dc.subjectBRCA2es_CO
dc.subjectMutationes_CO
dc.subjectDiagnostic testes_CO
dc.subjectColombiaes_CO
dc.titleMutational spectrum in breast cancer associated BRCA1 and BRCA2 genes in Colombiaes_CO
dc.title.alternativeEspectro de mutaciones en los genes BRCA1 y BRCA2 asociados a cáncer de mama en Colombiaes_CO
dc.typearticlees_CO
dc.type.hasVersionpublishedVersiones_CO
dc.rights.accessRightsopenAccesses_CO
dc.identifier.doihttps://doi.org/10.25100/cm.v48i2.1867


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