Mutational spectrum in breast cancer associated BRCA1 and BRCA2 genes in Colombia
6 páginas
- Autores:
-
Briceño Balcázar, Ignacio
Gómez Gutiérrez, Alberto
Díaz Dussán, Natalia Andrea
Noguera Santamaría, María Claudia
Díaz Rincón, Diego
Casas Gómez, María Consuelo
- Tipo de recurso:
- Fecha de publicación:
- 2017
- Institución:
- Universidad de la Sabana
- Repositorio:
- Repositorio Universidad de la Sabana
- Idioma:
- spa
- OAI Identifier:
- oai:intellectum.unisabana.edu.co:10818/32817
- Acceso en línea:
- http://colombiamedica.univalle.edu.co/index.php/comedica/article/view/1867
http://colombiamedica.univalle.edu.co/index.php/comedica/article/view/1867/3415
http://hdl.handle.net/10818/32817
- Palabra clave:
- Breast cancer
BRCA1
BRCA2
Mutation
Diagnostic test
Colombia
- Rights
- License
- Attribution-NonCommercial-NoDerivatives 4.0 International
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Mutational spectrum in breast cancer associated BRCA1 and BRCA2 genes in Colombia |
| dc.title.alternative.es_CO.fl_str_mv |
Espectro de mutaciones en los genes BRCA1 y BRCA2 asociados a cáncer de mama en Colombia |
| title |
Mutational spectrum in breast cancer associated BRCA1 and BRCA2 genes in Colombia |
| spellingShingle |
Mutational spectrum in breast cancer associated BRCA1 and BRCA2 genes in Colombia Breast cancer BRCA1 BRCA2 Mutation Diagnostic test Colombia |
| title_short |
Mutational spectrum in breast cancer associated BRCA1 and BRCA2 genes in Colombia |
| title_full |
Mutational spectrum in breast cancer associated BRCA1 and BRCA2 genes in Colombia |
| title_fullStr |
Mutational spectrum in breast cancer associated BRCA1 and BRCA2 genes in Colombia |
| title_full_unstemmed |
Mutational spectrum in breast cancer associated BRCA1 and BRCA2 genes in Colombia |
| title_sort |
Mutational spectrum in breast cancer associated BRCA1 and BRCA2 genes in Colombia |
| dc.creator.fl_str_mv |
Briceño Balcázar, Ignacio Gómez Gutiérrez, Alberto Díaz Dussán, Natalia Andrea Noguera Santamaría, María Claudia Díaz Rincón, Diego Casas Gómez, María Consuelo |
| dc.contributor.author.none.fl_str_mv |
Briceño Balcázar, Ignacio Gómez Gutiérrez, Alberto Díaz Dussán, Natalia Andrea Noguera Santamaría, María Claudia Díaz Rincón, Diego Casas Gómez, María Consuelo |
| dc.subject.es_CO.fl_str_mv |
Breast cancer BRCA1 BRCA2 Mutation Diagnostic test Colombia |
| topic |
Breast cancer BRCA1 BRCA2 Mutation Diagnostic test Colombia |
| description |
6 páginas |
| publishDate |
2017 |
| dc.date.issued.none.fl_str_mv |
2017-06-02 |
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2018-04-23T16:28:34Z |
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4/23/2018 11:28 |
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article |
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Briceño 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. |
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1657-9534 |
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http://colombiamedica.univalle.edu.co/index.php/comedica/article/view/1867 http://colombiamedica.univalle.edu.co/index.php/comedica/article/view/1867/3415 |
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http://hdl.handle.net/10818/32817 |
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10.25100/cm.v48i2.1867 |
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Briceño 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. 1657-9534 10.25100/cm.v48i2.1867 |
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http://colombiamedica.univalle.edu.co/index.php/comedica/article/view/1867 http://colombiamedica.univalle.edu.co/index.php/comedica/article/view/1867/3415 http://hdl.handle.net/10818/32817 |
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spa |
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spa |
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Colombia Médica - Vol. 48 Nº2 2017 |
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Attribution-NonCommercial-NoDerivatives 4.0 International |
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application/pdf |
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Colombia Médica |
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Briceño Balcázar, IgnacioGómez Gutiérrez, AlbertoDíaz Dussán, Natalia AndreaNoguera Santamaría, María ClaudiaDíaz Rincón, DiegoCasas Gómez, María Consuelo4/23/2018 11:282018-04-23T16:28:34Z2017-06-02Briceño 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), 58-63.1657-9534http://colombiamedica.univalle.edu.co/index.php/comedica/article/view/1867http://colombiamedica.univalle.edu.co/index.php/comedica/article/view/1867/3415http://hdl.handle.net/10818/3281710.25100/cm.v48i2.18676 páginasIntroduction: 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.application/pdfspaColombia MédicaColombia Médica - Vol. 48 Nº2 2017Attribution-NonCommercial-NoDerivatives 4.0 Internationalhttp://creativecommons.org/licenses/by-nc-nd/4.0/http://purl.org/coar/access_right/c_abf2Universidad de La SabanaIntellectum Repositorio Universidad de La SabanaBreast cancerBRCA1BRCA2MutationDiagnostic testColombiaMutational spectrum in breast cancer associated BRCA1 and BRCA2 genes in ColombiaEspectro de mutaciones en los genes BRCA1 y BRCA2 asociados a cáncer de mama en ColombiaarticlepublishedVersionhttp://purl.org/coar/version/c_970fb48d4fbd8a85http://purl.org/coar/resource_type/c_6501ORIGINALMUTATIONAL SPECTRUM IN BREAST CANCER ASSOCIATED BRCA1 AND BRCA2 GENES IN COLOMBIA.pdfMUTATIONAL SPECTRUM IN BREAST CANCER ASSOCIATED BRCA1 AND BRCA2 GENES IN COLOMBIA.pdfVer artículoapplication/pdf1197967https://intellectum.unisabana.edu.co/bitstream/10818/32817/1/MUTATIONAL%20SPECTRUM%20IN%20BREAST%20CANCER%20ASSOCIATED%20BRCA1%20AND%20BRCA2%20GENES%20IN%20COLOMBIA.pdfd7a44c9028fa50f01a31b2f811bcf846MD51CC-LICENSElicense_rdflicense_rdfapplication/rdf+xml; charset=utf-81223https://intellectum.unisabana.edu.co/bitstream/10818/32817/2/license_rdf7c9ab7f006165862d8ce9ac5eac01552MD52LICENSElicense.txtlicense.txttext/plain; charset=utf-8498https://intellectum.unisabana.edu.co/bitstream/10818/32817/3/license.txtf52a2cfd4df262e08e9b300d62c85cabMD53TEXTMUTATIONAL SPECTRUM IN BREAST CANCER ASSOCIATED BRCA1 AND BRCA2 GENES IN COLOMBIA.pdf.txtMUTATIONAL SPECTRUM IN BREAST CANCER ASSOCIATED BRCA1 AND BRCA2 GENES IN COLOMBIA.pdf.txtExtracted Texttext/plain31824https://intellectum.unisabana.edu.co/bitstream/10818/32817/4/MUTATIONAL%20SPECTRUM%20IN%20BREAST%20CANCER%20ASSOCIATED%20BRCA1%20AND%20BRCA2%20GENES%20IN%20COLOMBIA.pdf.txte855b63b9a35679d0188018ac51c17c5MD5410818/32817oai:intellectum.unisabana.edu.co:10818/328172022-05-10 05:17:35.804Intellectum Universidad de la Sabanacontactointellectum@unisabana.edu.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 |