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| Indexado |
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| DOI | 10.1186/S13058-020-01341-3 | ||||
| Año | 2020 | ||||
| Tipo | artículo de investigación |
Citas Totales
Autores Afiliación Chile
Instituciones Chile
% Participación
Internacional
Autores
Afiliación Extranjera
Instituciones
Extranjeras
Conclusions: Our results suggest that this mutation originated in Iberia and later introduced to Colombia and South America at the time of Spanish colonization during the early 1500s. We also found that the Colombian mutation carriers had higher European ancestry, at the BRCA1 gene harboring chromosome 17, than controls, which further supported the European origin of the mutation. Understanding founder mutations in diverse populations has implications in implementing cost-effective, ancestry-informed screening.
| Ord. | Autor | Género | Institución - País |
|---|---|---|---|
| 1 | Tuazon, Anna Marie De Asis | Mujer |
UNIV CALIF DAVIS - Estados Unidos
University of California, Davis - Estados Unidos |
| 2 | Lott, Paul | Hombre |
UNIV CALIF DAVIS - Estados Unidos
University of California, Davis - Estados Unidos |
| 3 | Bohorquez, Mabel | Mujer |
Univ Tolima - Colombia
Universidad del Tolima - Colombia |
| 4 | Benavides, Jennyfer | Mujer |
Univ Tolima - Colombia
Universidad del Tolima - Colombia |
| 5 | RAMIREZ-ARAYA, CAROLINA | Mujer |
Univ Tolima - Colombia
Universidad del Tolima - Colombia |
| 6 | Criollo, Angel | Hombre |
Univ Tolima - Colombia
Universidad del Tolima - Colombia |
| 7 | Estrada-Florez, Ana | - |
Univ Tolima - Colombia
Universidad del Tolima - Colombia |
| 8 | Mateus, Gilbert | Hombre |
Univ Tolima - Colombia
Universidad del Tolima - Colombia |
| 9 | Velez, Alejandro | Hombre |
Hosp Pablo Tobon Uribe - Colombia
Dinam IPS - Colombia Hospital Pablo Tobon Uribe - Colombia Dinámica IPS - Colombia |
| 10 | Carmona, Jenny | Mujer |
Dinam IPS - Colombia
Dinámica IPS - Colombia |
| 11 | Olaya, Justo | Hombre |
Hosp Univ Hernando Moncaleano Perdomo - Colombia
Hospital Universitario Hernando Moncaleano Perdomo - Colombia |
| 12 | Garcia, Elisha | Hombre |
UNIV CALIF DAVIS - Estados Unidos
University of California, Davis - Estados Unidos |
| 13 | Polanco-Echeverry, Guadalupe | Mujer |
UNIV CALIF DAVIS - Estados Unidos
University of California, Davis - Estados Unidos |
| 14 | Stultz, Jacob | Hombre |
UNIV CALIF DAVIS - Estados Unidos
University of California, Davis - Estados Unidos |
| 15 | ALVAREZ-MALDINI, CAROLINA ESTELA | Mujer |
Pontificia Universidad Católica de Chile - Chile
|
| 16 | TAPIA-ESPINOZA, TERESA MARLOREN | Mujer |
Pontificia Universidad Católica de Chile - Chile
|
| 17 | Ashton-Prolla, Patricia | Mujer |
Fed Univ Rio Grande Sul UFRGS - Brasil
Univ Fed Rio Grande do Sul - Brasil Hosp Clin Porto Alegre HCPA - Brasil Universidade Federal do Rio Grande do Sul - Brasil Hospital de Clínicas de Porto Alegre - Brasil |
| 18 | Alemar, Barbara | - | |
| 19 | Netto, Cristina Brinckmann Oliveira | - | |
| 20 | Carraro, Dirce Maria | - | |
| 21 | Vargas, Fernando Regla | - | |
| 22 | da Silva, Gustavo Stumpf | - | |
| 23 | Nascimento, Ivana Lúcia Oliveira | - | |
| 24 | de Souza, Kelly Rose Lobo | - | |
| 25 | Infante, Mar | Mujer |
Inst Genet & Mol Biol UVa - España
Institute of Genetics and Molecular Biology (UVa-CSIC) - España CSIC-UVA - Instituto de Biomedicina y Genética Molecular (IBGM) - España |
| 26 | Moreira, Miguel Angelo Martins | - | |
| 27 | Torrales, Maria Betânia | - | |
| 28 | Pimenta, Maristela | - | |
| 29 | Machado-Lopes, Taisa Manuela Bonfim | - | |
| 30 | Vega, Ana | - |
Fdn Publ Galega Med Xenom - España
Grupo de Medicina Xenómica-USC - España Centro de Investigación Biomédica en Red de Enfermedades Raras - España |
| 31 | Brazilian Familial Canc Network | Corporación |
Hosp Clin Porto Alegre HCPA - Brasil
|
| 31 | Lazaro, Conxi | - |
Catalan Inst Oncol - España
Ctr Invest Biomed Red Canc CIBERONC - España Hospital Universitari de Bellvitge - España Centro de Investigación Biomédica en Red de Cáncer (CIBERONC) - España Centro de Investigación Biomédica en Red de Cáncer - España |
| 32 | COLUMBUS Consortium | Corporación | |
| 32 | Tornero, Eva | Mujer |
Catalan Inst Oncol - España
Ctr Invest Biomed Red Canc CIBERONC - España Hospital Universitari de Bellvitge - España Centro de Investigación Biomédica en Red de Cáncer (CIBERONC) - España Centro de Investigación Biomédica en Red de Cáncer - España |
| 33 | Martinez-Bouzas, Cristina | Mujer |
Hosp Univ Cruces - España
Osakidetza, Cruces University Hospital - España |
| 34 | Infante, Mar | Mujer |
Inst Genet & Mol Biol UVa - España
Institute of Genetics and Molecular Biology (UVa-CSIC) - España CSIC-UVA - Instituto de Biomedicina y Genética Molecular (IBGM) - España |
| 35 | De La Hoya, Miguel | Hombre |
Hosp Clin San Carlos - España
Instituto de Investigación Sanitaria La Fe - España Hospital Clínico San Carlos - España |
| 36 | Diez, Orland | Hombre |
Inst Oncol Vall dHebron VHIO - España
Grupo de Cáncer Hereditario - España Instituto Oncológico Vall d’Hebron (VHIO) - España |
| 37 | Browning, Brian L. | Hombre |
UNIV WASHINGTON - Estados Unidos
University of Washington, Seattle - Estados Unidos University of Washington School of Medicine - Estados Unidos |
| 38 | Bolaños, Fernando | - | |
| 39 | Murillo, Raul | Hombre | |
| 40 | Sánchez, Yesid | - | |
| 41 | Sanabria, Carolina | - | |
| 42 | Serrano, Martha Lucia | - | |
| 43 | Suarez, John Jairo | - | |
| 44 | Rannala, Bruce | Hombre |
UNIV CALIF DAVIS - Estados Unidos
University of California, Davis - Estados Unidos |
| 45 | Teixeira, Manuel | Hombre |
Univ Porto - Portugal
Universidade do Porto - Portugal |
| 46 | CARVALLO-DE SAINT QUENTIN, MARIA DEL PILAR | Mujer |
Pontificia Universidad Católica de Chile - Chile
|
| 47 | Echeverry, Magdalena | Mujer |
Univ Tolima - Colombia
Universidad del Tolima - Colombia |
| 48 | Carvajal-Carmona, Luis G. | Hombre |
UNIV CALIF DAVIS - Estados Unidos
Fdn Genet & Genom - Colombia University of California, Davis - Estados Unidos Fundación de Genómica y Genética Molecular - Colombia UC Davis Comprehensive Cancer Center - Estados Unidos UC Davis School of Medicine - Estados Unidos |
| Fuente |
|---|
| Fondef |
| Fundação de Amparo à Pesquisa do Estado do Rio Grande do Sul |
| Conselho Nacional de Desenvolvimento Científico e Tecnológico |
| National Institutes of Health |
| European Regional Development Fund |
| Fondo de Fomento al Desarrollo Científico y Tecnológico |
| Generalitat de Catalunya |
| Pontificia Universidad Javeriana |
| CNPq, Brazil |
| National Cancer Institute |
| National Institute of General Medical Sciences |
| Fundação Oswaldo Cruz |
| Universidad del Tolima |
| FAPERGS, Brazil |
| University of California, Davis |
| CIBERER |
| V Foundation for Cancer Research |
| Instituto Nacional de Cancerología |
| Hospital de Clínicas de Porto Alegre |
| Carlos III National Health Institute - FEDER funds-a way to build Europe [CIBERONC] |
| UC Davis T32 Biotechnology Program |
| Fundo de Incentivo a Pesquisa (FIPE) do Hospital de Clinicas de Porto Alegre, Brazil |
| GSK Oncology |
| Colciencias program "Formacion de Capital Humano de Alto Nivel para el Departamento de Tolima-2016" |
| Carlos III National Health Institute - FEDER funds-a way to build Europe |
| Government of Catalonia [Pla estrategic de recerca i innovacio en salut (PERIS_MedPerCan and URDCat projects)] |
| Oficina de Desarrollo a la Docencia de la Universidad del Tolima, Convocatoria 2010 |
| Colciencias program "Becas Doctorales Nacionales" |
| Federal University of Bahia |
| Porto Alegre |
| UFBA |
| Gustavo Stumpf da Silva |
| Federal University of Rio de Janeiro State, Rio de Janeiro, Brazil |
| Carlos III National Health Institute |
| NOB |
| Oncology Nucleus of Bahia |
| John Jairo Suarez |
| Fundo de Incentivo a Pesquisa |
| Medical Genetics Service |
| Carolina Sanabria |
| Martha Lucia Serrano |
| Gaffrée Guinle Hospital |
| Taisa Manuela Bonfim Machado-Lopes |
| Oswaldo Cruz Institute |
| Oficina de Desarrollo a la Docencia de la Universidad del Tolima |
| Agradecimiento |
|---|
| AMDEA was supported with graduate Fellowships from UC Davis T32 Biotechnology Program. MB, ME, and LGC-C received funding from GSK Oncology and from "Oficina de Desarrollo a la Docencia de la Universidad del Tolima, Convocatoria 2010". AC and AEF received funding from the Colciencias program "Becas Doctorales Nacionales, Convocatorias 528-2011 and 6472015". JB received funding from the Colciencias program "Formacion de Capital Humano de Alto Nivel para el Departamento de Tolima-2016, convocatoria 755". BRCA1/2 genotyping of the Brazilian patients was performed in part with grants from CNPq (408313/2016-1), FAPERGS and Fundo de Incentivo a Pesquisa (FIPE) do Hospital de Clinicas de Porto Alegre, Brazil. AV received funding from CIBERER (grant ER17P1AC7112/2017). PC received funding from FONDEF grant #CA12I10152. CL was Supported by the Carlos III National Health Institute funded by FEDER funds-a way to build Europe-[PI19/00553; PI16/00563; PI16/01898; SAF2015-68016-R and CIBERONC]; the Government of Catalonia [Pla estrategic de recerca i innovacio en salut (PERIS_MedPerCan and URDCat projects), 2017SGR1282 and 2017SGR496]. BR received funding from the National Institutes of Health (R01GM123306). The contents of this article are solely the responsibility of the authors and do not reflect the official views of the National Institutes of Health. LGC-C received from the V Foundation for Cancer Research and from The Auburn Community Cancer Endowed Chair in Basic Science. |
| We are grateful to all of the individuals who participated in the current study. COLUMBUS Consortium contributors (in alphabetical order): Fernando Bolaños (Hospital Hernando Moncaleano Perdomo, Neiva, Colombia), Raúl Murillo (Pontificia Universidad Javeriana, Bogotá, Colombia), Yesid Sánchez (Universidad del Tolima, Ibagué, Colombia), Carolina Sanabria (Instituto Nacional de Cancerología, Bogotá, Colombia), Martha Lucia Serrano (Instituto Nacional de Cancerología, Bogotá, Colombia), John Jairo Suarez (Universidad del Tolima, Ibagué, Colombia). The Brazilian Familial Cancer Network contributors (in alphabetical order):, Barbara Alemar (Medical Genomics Laboratory, Hospital de Clinicas de Porto Alegre (HCPA), Porto Alegre, Brazil), Cristina Brinckmann Oliveira Netto (Medical Genetics Service, Porto Alegre, Brazil), Dirce Maria Carraro (Laboratory of Genomics and Molecular Biology, International Research Center, A.C. Camargo Cancer Center, São Paulo, Brazil;, Laboratory of Genomic Diagnostics, Anatomic Pathology Department, A.C. Camargo Cancer Center, São Paulo, Brazil), Fernando Regla Vargas (Birth Defects Epidemiology Laboratory, Oswaldo Cruz Institute, Oswaldo Cruz Foundation and Medical Genetics Service, Gaffrée Guinle Hospital, Federal University of Rio de Janeiro State, Rio de Janeiro, Brazil.), Gustavo Stumpf da Silva (Medical Genomics Laboratory, Hospital de Clinicas de Porto Alegre (HCPA), Porto Alegre, Brazil), Ivana Lúcia Oliveira Nascimento (Laboratory of Immunology and Molecular Biology (LABIMUNO). Federal University of Bahia (UFBA), Salvador, Bahia, Brazil; Oncology Nucleus of Bahia, NOB, Salvador, Bahia, Brazil), Kelly Rose Lobo de Souza (Genetics Program. National Cancer Institute, Rio de Janeiro, Brazil), Kiyoko Abe-Sandes (Laboratory of Immunology and Molecular Biology (LABIMUNO). Federal University of Bahia (UFBA), Salvador, Bahia, Brazil), Maria Isabel Achatz (Hospital Sírio-Libanês (HSL), São Paulo, São Paulo, Brazil), Miguel Angelo Martins Moreira (Genetics Program. National Cancer Institute, Rio de Janeiro, Brazil), Maria Betânia Torrales (Laboratory of Immunology and Molecular Biology (LABIMUNO). Federal University of Bahia (UFBA), Salvador, Bahia, Brazil), Maristela Pimenta (Laboratory of Genomic Diagnostics, Anatomic Pathology Department, A.C. Camargo Cancer Center, São Paulo, Brazil), Patricia Santos da Silva (Medical Genomics Laboratory, Hospital de Clinicas de Porto Alegre (HCPA), Porto Alegre, Brazil)), Taisa Manuela Bonfim Machado-Lopes (Laboratory of Immunology and Molecular Biology (LABIMUNO). Federal University of Bahia (UFBA), Salvador, Bahia, Brazil). |