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dc.contributor.authorCifuentes-C, Laura-
dc.coverage.temporal5 (22)es
dc.creatorSolano, Angela R.-
dc.creatorPalmero, Edenir I.-
dc.creatorDelgado, Lucía-
dc.creatorCarraro, Dirce M.-
dc.creatorOrtíz-López, Rocío-
dc.creatorCarranza, Claudia L.-
dc.creatorSantamaria, Carlos-
dc.creatorCifuentes-C, Laura-
dc.creatorJara Sosa, Lilian E.-
dc.creatorToland, Amanda E.-
dc.description.abstractThe 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,
dc.publisherUniversidad Cooperativa de Colombia, Facultad de Ciencias de la Salud, Odontología, Pastoes
dc.relation.ispartofnpj genomic medicinees
dc.subjectBRCA1 - BRCA2es
dc.subjectCáncer de mamaes
dc.subjectLatino Americaes
dc.subjectDiagnóstico Genéticoes
dc.subject.otherBRCA1 - BRCA2es
dc.subject.otherBreast canceres
dc.subject.otherLatin Americanes
dc.subject.otherGenetic Testinges
dc.titleSequencing technology status of BRCA1/2 testing in Latin American Countrieses
dc.rights.licenseAtribución – No comercial – Sin Derivares
dc.identifier.bibliographicCitationSolano, 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),
dc.source.bibliographicCitationToland, A. E. et al. On behalf of the BIC Steering Committee. npj Genom. Med. 3, 1–8 (2018)es
dc.source.bibliographicCitationSilva, 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)es
dc.source.bibliographicCitationWeitzel, 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).es
dc.source.bibliographicCitationAlemar, 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).es
dc.source.bibliographicCitationDelgado, 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).es
dc.source.bibliographicCitationSolano, 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).es
dc.source.bibliographicCitationBorrego-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)es
dc.source.bibliographicCitationSolano, 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).es
dc.source.bibliographicCitationJara, 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).es
dc.source.bibliographicCitationCardoso, 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).es
dc.source.bibliographicCitationSolano, 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).es
dc.source.bibliographicCitationCalderón-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)es
dc.source.bibliographicCitationPalmero, E. I. et al. The germline mutational landscape of BRCA1 and BRCA2 in Brazil. Sci. Rep. 15, 9188 (2018).es
dc.source.bibliographicCitationCortés, 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).es
dc.source.bibliographicCitationUrbina-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).es
dc.source.bibliographicCitationGonzalez-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).es
dc.source.bibliographicCitationCotignola, J., Rozental, S., Buzzalino, N. & Dain, L. Genetics and genomics medicine in Argentina. Mol. Genet. Genom. Med. 7, e571 (2019).es
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