Sequencing technology status of BRCA1/2 testing in Latin American Countries
The goal of this study was to survey laboratories in Latin America performing BRCA1 and BRCA2 (BRCA1/2) testing using the same questionnaire administered previously to other testing laboratories around the world1 . The initial study only captured information from two laboratories in the Latin Americ...
- Autores:
-
Solano, Angela R.
Palmero, Edenir I.
Delgado, Lucía
Carraro, Dirce M.
Ortíz López, Rocío
Carranza, Claudia L.
Santamaria, Carlos
Cifuentes Cardona, Laura Fernanda
Jara Sosa, Lilian E.
Toland, Amanda E.
- Tipo de recurso:
- Article of journal
- Fecha de publicación:
- 2020
- Institución:
- Universidad Cooperativa de Colombia
- Repositorio:
- Repositorio UCC
- Idioma:
- OAI Identifier:
- oai:repository.ucc.edu.co:20.500.12494/32911
- Acceso en línea:
- https://hdl.handle.net/20.500.12494/32911
- Palabra clave:
- BRCA1 - BRCA2
Cáncer de mama
Latino America
Diagnóstico Genético
BRCA1 - BRCA2
Breast cancer
Latin American
Genetic Testing
- Rights
- openAccess
- License
- Atribución – No comercial – Sin Derivar
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Sequencing technology status of BRCA1/2 testing in Latin American Countries |
| title |
Sequencing technology status of BRCA1/2 testing in Latin American Countries |
| spellingShingle |
Sequencing technology status of BRCA1/2 testing in Latin American Countries BRCA1 - BRCA2 Cáncer de mama Latino America Diagnóstico Genético BRCA1 - BRCA2 Breast cancer Latin American Genetic Testing |
| title_short |
Sequencing technology status of BRCA1/2 testing in Latin American Countries |
| title_full |
Sequencing technology status of BRCA1/2 testing in Latin American Countries |
| title_fullStr |
Sequencing technology status of BRCA1/2 testing in Latin American Countries |
| title_full_unstemmed |
Sequencing technology status of BRCA1/2 testing in Latin American Countries |
| title_sort |
Sequencing technology status of BRCA1/2 testing in Latin American Countries |
| dc.creator.fl_str_mv |
Solano, Angela R. Palmero, Edenir I. Delgado, Lucía Carraro, Dirce M. Ortíz López, Rocío Carranza, Claudia L. Santamaria, Carlos Cifuentes Cardona, Laura Fernanda Jara Sosa, Lilian E. Toland, Amanda E. |
| dc.contributor.author.none.fl_str_mv |
Solano, Angela R. Palmero, Edenir I. Delgado, Lucía Carraro, Dirce M. Ortíz López, Rocío Carranza, Claudia L. Santamaria, Carlos Cifuentes Cardona, Laura Fernanda Jara Sosa, Lilian E. Toland, Amanda E. |
| dc.subject.spa.fl_str_mv |
BRCA1 - BRCA2 Cáncer de mama Latino America Diagnóstico Genético |
| topic |
BRCA1 - BRCA2 Cáncer de mama Latino America Diagnóstico Genético BRCA1 - BRCA2 Breast cancer Latin American Genetic Testing |
| dc.subject.other.spa.fl_str_mv |
BRCA1 - BRCA2 Breast cancer Latin American Genetic Testing |
| description |
The goal of this study was to survey laboratories in Latin America performing BRCA1 and BRCA2 (BRCA1/2) testing using the same questionnaire administered previously to other testing laboratories around the world1 . The initial study only captured information from two laboratories in the Latin American region. As this region of the world was under-represented, this study aimed to fill in the knowledge gap. A letter of invitation was sent to 12 laboratories directors of known academic centers in the region performing genetic testing. Two additional laboratories were identified, one at the XVII Congress of the Latin American Association of Genetics (ALAG) meeting in Mendoza, Argentina and a second at the 2019 American Society of Human Genetics meeting in Houston, TX, USA. |
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2020 |
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2020-06 |
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2021-01-27T23:07:47Z |
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2021-01-27T23:07:47Z |
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Artículo |
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http://purl.org/coar/resource_type/c_2df8fbb1 |
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http://purl.org/coar/resource_type/c_6501 |
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http://purl.org/coar/version/c_970fb48d4fbd8a85 |
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info:eu-repo/semantics/article |
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2056-7944 |
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10.1038/s41525-020-0126-3 |
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https://hdl.handle.net/20.500.12494/32911 |
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Solano, A. R., Palmero, E. I., Delgado, L., Carraro, D. M., Ortíz-López, R., Carranza, C. L., ... & Toland, A. E. (2020). Sequencing technology status of BRCA1/2 testing in Latin American Countries. npj Genomic Medicine, 5(1), 1-3. |
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2056-7944 10.1038/s41525-020-0126-3 Solano, A. R., Palmero, E. I., Delgado, L., Carraro, D. M., Ortíz-López, R., Carranza, C. L., ... & Toland, A. E. (2020). Sequencing technology status of BRCA1/2 testing in Latin American Countries. npj Genomic Medicine, 5(1), 1-3. |
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https://hdl.handle.net/20.500.12494/32911 |
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https://www.nature.com/articles/s41525-020-0126-3 |
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npj genomic medicine |
| dc.relation.references.spa.fl_str_mv |
Toland, A. E. et al. On behalf of the BIC Steering Committee. npj Genom. Med. 3, 1–8 (2018) Silva, F. C. et al. Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients. BMC Med. Genet. 15, 1–11 (2014) Weitzel, J. N. et al. Prevalence and type of BRCA mutations in Hispanics undergoing genetic cancer risk assessment in the southwestern United States: a report from the Clinical Cancer Genetics Community Research Network. J. Clin. Oncol. 31, 210–216 (2013). Alemar, B. et al. Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations. Cancer Genet. 209, 417–422 (2016). Delgado, L. et al. BRCA1 and BRCA2 germline mutations in Uruguayan breast and breast-ovarian cancer families. Identification of novel mutations and unclassified variants. Breast Cancer Res. Treat. 128, 211–218 (2011). Solano, A. R. et al. BRCA1 and BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative South-American origin. SpringerPlus 1, 1–10 (2012). Borrego-Soto, G., Ortiz-López, R. & Rojas-Martínez, A. Ionizing radiation-induced DNA injury and damage detection in patients with breast cancer. Genet. Mol. Biol. 38, 420–432 (2015) Solano, A. R. et al. Spectrum of BRCA1/2 variants in 940 patients from Argentina including novel, deleterious and recurrent germline mutations: the impact in health care and clinical practice. Oncotarget 8, 60487–60495 (2016). Jara, L. et al. Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations. Biol. Res. 50, 1–18 (2017). Cardoso, F. C. et al. BRCA1 and BRCA2 mutations and clinical interpretation in 398 ovarian cancer patients: comparison with breast cancer variants in a similar population. Hum. Genomics 12, 1–8 (2018). Solano, A. R. et al. BRCA1 and BRCA2 mutations other than the founder alleles among Ashkenazi Jewish in the population of Argentina. Front. Oncol. 8, 1–7 (2018). Calderón-Garcidueñas, A. L. et al. Genetic structure of Mexican Mestizo women with breast cancer based on three STR loci. Am. J. Hum. Biol. 20, 191–193 (2018) Palmero, E. I. et al. The germline mutational landscape of BRCA1 and BRCA2 in Brazil. Sci. Rep. 15, 9188 (2018). Cortés, C. et al. Mutational analysis of BRCA1 and BRCA2 genes in women with familial breast cancer from different regions of Colombia. Hered. Cancer Clin. Pract. 17, 1–10 (2019). Urbina-Jara, L. K. et al. Landscape of germline mutations in DNA repair genes for breast cancer in Latin America: opportunities for PARP-like inhibitors and immunotherapy. Genes 10, 1–24 (2019). Gonzalez-Hormazabal, P. et al. Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families. Breast Cancer Res. Treat. 126, 705–716 (2011). Cotignola, J., Rozental, S., Buzzalino, N. & Dain, L. Genetics and genomics medicine in Argentina. Mol. Genet. Genom. Med. 7, e571 (2019). |
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Universidad Cooperativa de Colombia, Facultad de Ciencias de la Salud, Odontología, Pasto |
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Solano, Angela R.Palmero, Edenir I.Delgado, LucíaCarraro, Dirce M.Ortíz López, RocíoCarranza, Claudia L.Santamaria, CarlosCifuentes Cardona, Laura FernandaJara Sosa, Lilian E.Toland, Amanda E.5 (22)2021-01-27T23:07:47Z2021-01-27T23:07:47Z2020-062056-794410.1038/s41525-020-0126-3https://hdl.handle.net/20.500.12494/32911Solano, A. R., Palmero, E. I., Delgado, L., Carraro, D. M., Ortíz-López, R., Carranza, C. L., ... & Toland, A. E. (2020). Sequencing technology status of BRCA1/2 testing in Latin American Countries. npj Genomic Medicine, 5(1), 1-3.The goal of this study was to survey laboratories in Latin America performing BRCA1 and BRCA2 (BRCA1/2) testing using the same questionnaire administered previously to other testing laboratories around the world1 . The initial study only captured information from two laboratories in the Latin American region. As this region of the world was under-represented, this study aimed to fill in the knowledge gap. A letter of invitation was sent to 12 laboratories directors of known academic centers in the region performing genetic testing. Two additional laboratories were identified, one at the XVII Congress of the Latin American Association of Genetics (ALAG) meeting in Mendoza, Argentina and a second at the 2019 American Society of Human Genetics meeting in Houston, TX, USA.https://scienti.minciencias.gov.co/cvlac/visualizador/generarCurriculoCv.do?cod_rh=00002608190000-0001-7013-1952https://scienti.minciencias.gov.co/gruplac/jsp/visualiza/visualizagr.jsp?nro=00000000002911laura.cifuentesc@campusucc.edu.colauracifuentes@gmail.comhttps://scholar.google.com/citations?user=MKqJTTAAAAAJ&hl=es&oi=ao1-3Universidad Cooperativa de Colombia, Facultad de Ciencias de la Salud, Odontología, PastoOdontologíaPastohttps://www.nature.com/articles/s41525-020-0126-3npj genomic medicineToland, A. E. et al. On behalf of the BIC Steering Committee. npj Genom. Med. 3, 1–8 (2018)Silva, F. C. et al. Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients. BMC Med. Genet. 15, 1–11 (2014)Weitzel, J. N. et al. Prevalence and type of BRCA mutations in Hispanics undergoing genetic cancer risk assessment in the southwestern United States: a report from the Clinical Cancer Genetics Community Research Network. J. Clin. Oncol. 31, 210–216 (2013).Alemar, B. et al. Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations. Cancer Genet. 209, 417–422 (2016).Delgado, L. et al. BRCA1 and BRCA2 germline mutations in Uruguayan breast and breast-ovarian cancer families. Identification of novel mutations and unclassified variants. Breast Cancer Res. Treat. 128, 211–218 (2011).Solano, A. R. et al. BRCA1 and BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative South-American origin. SpringerPlus 1, 1–10 (2012).Borrego-Soto, G., Ortiz-López, R. & Rojas-Martínez, A. Ionizing radiation-induced DNA injury and damage detection in patients with breast cancer. Genet. Mol. Biol. 38, 420–432 (2015)Solano, A. R. et al. Spectrum of BRCA1/2 variants in 940 patients from Argentina including novel, deleterious and recurrent germline mutations: the impact in health care and clinical practice. Oncotarget 8, 60487–60495 (2016).Jara, L. et al. Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations. Biol. Res. 50, 1–18 (2017).Cardoso, F. C. et al. BRCA1 and BRCA2 mutations and clinical interpretation in 398 ovarian cancer patients: comparison with breast cancer variants in a similar population. Hum. Genomics 12, 1–8 (2018).Solano, A. R. et al. BRCA1 and BRCA2 mutations other than the founder alleles among Ashkenazi Jewish in the population of Argentina. Front. Oncol. 8, 1–7 (2018).Calderón-Garcidueñas, A. L. et al. Genetic structure of Mexican Mestizo women with breast cancer based on three STR loci. Am. J. Hum. Biol. 20, 191–193 (2018)Palmero, E. I. et al. The germline mutational landscape of BRCA1 and BRCA2 in Brazil. Sci. Rep. 15, 9188 (2018).Cortés, C. et al. Mutational analysis of BRCA1 and BRCA2 genes in women with familial breast cancer from different regions of Colombia. Hered. Cancer Clin. Pract. 17, 1–10 (2019).Urbina-Jara, L. K. et al. Landscape of germline mutations in DNA repair genes for breast cancer in Latin America: opportunities for PARP-like inhibitors and immunotherapy. Genes 10, 1–24 (2019).Gonzalez-Hormazabal, P. et al. Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families. Breast Cancer Res. Treat. 126, 705–716 (2011).Cotignola, J., Rozental, S., Buzzalino, N. & Dain, L. Genetics and genomics medicine in Argentina. Mol. Genet. Genom. Med. 7, e571 (2019).BRCA1 - BRCA2Cáncer de mamaLatino AmericaDiagnóstico GenéticoBRCA1 - BRCA2Breast cancerLatin AmericanGenetic TestingSequencing technology status of BRCA1/2 testing in Latin American CountriesArtículohttp://purl.org/coar/resource_type/c_6501http://purl.org/coar/resource_type/c_2df8fbb1http://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionAtribución – No comercial – Sin Derivarinfo:eu-repo/semantics/openAccesshttp://purl.org/coar/access_right/c_abf2PublicationORIGINALSequencing-technology-status-BRCA1_2-testing_Solano-2020.pdfSequencing-technology-status-BRCA1_2-testing_Solano-2020.pdfArtículoapplication/pdf762768https://repository.ucc.edu.co/bitstreams/67f61aa2-9ab1-423d-a819-36c93d448568/download083bdc54490a949ed71cb6131dadf05cMD51LICENSElicense.txtlicense.txttext/plain; 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