Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer
- Autores
- Sahasrabudhe, Ruta; Lott, Paul; Bohorquez, Mabel; Toal, Ted; Estrada, Ana P.; Suarez, John J.; Brea Fernández, Alejandro; Cameselle Teijeiro, José; Pinto, Carla; Ramos, Irma; Mantilla, Alejandra; Prieto, Rodrigo; Corvalan, Alejandro; Norero, Enrique; Alvarez, Carolina; Tapia, Teresa; Carvallo, Pilar; Gonzalez, Luz M.; Cock-Rada, Alicia; Solano, Angela Rosario; Neffa, Florencia; Della Valle, Adriana; Yau, Chris; Soares, Gabriela; Borowsky, Alexander; Hu, Nan; He, Li-Ji; Han, Xiao-You; Taylor, Philip R.; Goldstein, Alisa M.; Torres, Javier; Echeverry, Magdalena; Ruiz-Ponte, Clara; Teixeira, Manuel R.; Carvajal Carmona, Luis G.
- Año de publicación
- 2017
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- Up to 10% of cases of gastric cancer are familial, but so far, only mutations in CDH1 have been associated with gastric cancer risk. To identify genetic variants that affect risk for gastric cancer, we collected blood samples from 28 patients with hereditary diffuse gastric cancer (HDGC) not associated with mutations in CDH1 and performed whole-exome sequence analysis. We then analyzed sequences of candidate genes in 333 independent HDGC and non-HDGC cases. We identified 11 cases with mutations in PALB2, BRCA1, or RAD51C genes, which regulate homologous DNA recombination. We found these mutations in 2 of 31 patients with HDGC (6.5%) and 9 of 331 patients with sporadic gastric cancer (2.8%). Most of these mutations had been previously associated with other types of tumors and partially co-segregated with gastric cancer in our study. Tumors that developed in patients with these mutations had a mutation signature associated with somatic homologous recombination deficiency. Our findings indicate that defects in homologous recombination increase risk for gastric cancer.
Fil: Sahasrabudhe, Ruta. University of California at Davis; Estados Unidos
Fil: Lott, Paul. University of California at Davis; Estados Unidos
Fil: Bohorquez, Mabel. Universidad del Tolima; Colombia
Fil: Toal, Ted. University of California at Davis; Estados Unidos
Fil: Estrada, Ana P.. Universidad del Tolima; Colombia
Fil: Suarez, John J.. Universidad del Tolima; Colombia
Fil: Brea Fernández, Alejandro. Ciber Enfermedades Raras; España
Fil: Cameselle Teijeiro, José. Complejo Hospitalario Universitario de Santiago; España
Fil: Pinto, Carla. Instituto Portugues de Oncologia de Francisco Gentil Porto; Portugal
Fil: Ramos, Irma. Instituto Mexicano del Seguro Social; México
Fil: Mantilla, Alejandra. Departamento de Patologia la Unidad Medica Alta Especialidad Oncologia; México
Fil: Prieto, Rodrigo. Universidad del Tolima; Colombia
Fil: Corvalan, Alejandro. Pontificia Universidad Católica de Chile; Chile
Fil: Norero, Enrique. Pontificia Universidad Católica de Chile; Chile
Fil: Alvarez, Carolina. Universidad Católica de Chile; Chile
Fil: Tapia, Teresa. Pontificia Universidad Católica de Chile; Chile
Fil: Carvallo, Pilar. Pontificia Universidad Católica de Chile; Chile
Fil: Gonzalez, Luz M.. Instituto de Cancerologia, Las Americas; Colombia
Fil: Cock-Rada, Alicia. Instituto de Cancerologia, Las Americas; Colombia
Fil: Solano, Angela Rosario. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Centro de Educaciones Médicas e Investigación Clínica ; Argentina. Universidad de Buenos Aires; Argentina
Fil: Neffa, Florencia. Laboratorio Genia; Uruguay
Fil: Della Valle, Adriana. Laboratorio Genia; Uruguay
Fil: Yau, Chris. University of Oxford; Reino Unido
Fil: Soares, Gabriela. Centro Hospitalar Do Porto; Portugal
Fil: Borowsky, Alexander. University of California at Davis; Estados Unidos
Fil: Hu, Nan. National Cancer Institute; Estados Unidos
Fil: He, Li-Ji. Yangcheng Cancer Hospital; China
Fil: Han, Xiao-You. Shanxi Cancer Hospital; China
Fil: Taylor, Philip R.. National Institutes of Health; Estados Unidos
Fil: Goldstein, Alisa M.. National Institutes of Health; Estados Unidos
Fil: Torres, Javier. Instituto Mexicano del Seguro Social; México
Fil: Echeverry, Magdalena. Universidad del Tolima; Colombia
Fil: Ruiz-Ponte, Clara. Centro de Investigación Biomédica en Red de Enfermedades Raras; España
Fil: Teixeira, Manuel R.. Universidad de Porto; Portugal
Fil: Carvajal Carmona, Luis G.. University of California at Davis; Estados Unidos - Materia
-
Interaction
Stomach
Tumor
Wes - Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
- Repositorio
.jpg)
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/41447
Ver los metadatos del registro completo
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Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric CancerSahasrabudhe, RutaLott, PaulBohorquez, MabelToal, TedEstrada, Ana P.Suarez, John J.Brea Fernández, AlejandroCameselle Teijeiro, JoséPinto, CarlaRamos, IrmaMantilla, AlejandraPrieto, RodrigoCorvalan, AlejandroNorero, EnriqueAlvarez, CarolinaTapia, TeresaCarvallo, PilarGonzalez, Luz M.Cock-Rada, AliciaSolano, Angela RosarioNeffa, FlorenciaDella Valle, AdrianaYau, ChrisSoares, GabrielaBorowsky, AlexanderHu, NanHe, Li-JiHan, Xiao-YouTaylor, Philip R.Goldstein, Alisa M.Torres, JavierEcheverry, MagdalenaRuiz-Ponte, ClaraTeixeira, Manuel R.Carvajal Carmona, Luis G.InteractionStomachTumorWeshttps://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3Up to 10% of cases of gastric cancer are familial, but so far, only mutations in CDH1 have been associated with gastric cancer risk. To identify genetic variants that affect risk for gastric cancer, we collected blood samples from 28 patients with hereditary diffuse gastric cancer (HDGC) not associated with mutations in CDH1 and performed whole-exome sequence analysis. We then analyzed sequences of candidate genes in 333 independent HDGC and non-HDGC cases. We identified 11 cases with mutations in PALB2, BRCA1, or RAD51C genes, which regulate homologous DNA recombination. We found these mutations in 2 of 31 patients with HDGC (6.5%) and 9 of 331 patients with sporadic gastric cancer (2.8%). Most of these mutations had been previously associated with other types of tumors and partially co-segregated with gastric cancer in our study. Tumors that developed in patients with these mutations had a mutation signature associated with somatic homologous recombination deficiency. Our findings indicate that defects in homologous recombination increase risk for gastric cancer.Fil: Sahasrabudhe, Ruta. University of California at Davis; Estados UnidosFil: Lott, Paul. University of California at Davis; Estados UnidosFil: Bohorquez, Mabel. Universidad del Tolima; ColombiaFil: Toal, Ted. University of California at Davis; Estados UnidosFil: Estrada, Ana P.. Universidad del Tolima; ColombiaFil: Suarez, John J.. Universidad del Tolima; ColombiaFil: Brea Fernández, Alejandro. Ciber Enfermedades Raras; EspañaFil: Cameselle Teijeiro, José. Complejo Hospitalario Universitario de Santiago; EspañaFil: Pinto, Carla. Instituto Portugues de Oncologia de Francisco Gentil Porto; PortugalFil: Ramos, Irma. Instituto Mexicano del Seguro Social; MéxicoFil: Mantilla, Alejandra. Departamento de Patologia la Unidad Medica Alta Especialidad Oncologia; MéxicoFil: Prieto, Rodrigo. Universidad del Tolima; ColombiaFil: Corvalan, Alejandro. Pontificia Universidad Católica de Chile; ChileFil: Norero, Enrique. Pontificia Universidad Católica de Chile; ChileFil: Alvarez, Carolina. Universidad Católica de Chile; ChileFil: Tapia, Teresa. Pontificia Universidad Católica de Chile; ChileFil: Carvallo, Pilar. Pontificia Universidad Católica de Chile; ChileFil: Gonzalez, Luz M.. Instituto de Cancerologia, Las Americas; ColombiaFil: Cock-Rada, Alicia. Instituto de Cancerologia, Las Americas; ColombiaFil: Solano, Angela Rosario. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Centro de Educaciones Médicas e Investigación Clínica ; Argentina. Universidad de Buenos Aires; ArgentinaFil: Neffa, Florencia. Laboratorio Genia; UruguayFil: Della Valle, Adriana. Laboratorio Genia; UruguayFil: Yau, Chris. University of Oxford; Reino UnidoFil: Soares, Gabriela. Centro Hospitalar Do Porto; PortugalFil: Borowsky, Alexander. University of California at Davis; Estados UnidosFil: Hu, Nan. National Cancer Institute; Estados UnidosFil: He, Li-Ji. Yangcheng Cancer Hospital; ChinaFil: Han, Xiao-You. Shanxi Cancer Hospital; ChinaFil: Taylor, Philip R.. National Institutes of Health; Estados UnidosFil: Goldstein, Alisa M.. National Institutes of Health; Estados UnidosFil: Torres, Javier. Instituto Mexicano del Seguro Social; MéxicoFil: Echeverry, Magdalena. Universidad del Tolima; ColombiaFil: Ruiz-Ponte, Clara. Centro de Investigación Biomédica en Red de Enfermedades Raras; EspañaFil: Teixeira, Manuel R.. Universidad de Porto; PortugalFil: Carvajal Carmona, Luis G.. University of California at Davis; Estados UnidosW B Saunders Co-Elsevier Inc2017-04info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/41447Sahasrabudhe, Ruta; Lott, Paul; Bohorquez, Mabel; Toal, Ted; Estrada, Ana P.; et al.; Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer; W B Saunders Co-Elsevier Inc; Gastroenterology; 152; 5; 4-2017; 983-9860016-5085CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1053/j.gastro.2016.12.010info:eu-repo/semantics/altIdentifier/url/http://www.gastrojournal.org/article/S0016-5085(16)35521-4/fulltextinfo:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T09:33:05Zoai:ri.conicet.gov.ar:11336/41447instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 09:33:05.313CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse |
| dc.title.none.fl_str_mv |
Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer |
| title |
Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer |
| spellingShingle |
Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer Sahasrabudhe, Ruta Interaction Stomach Tumor Wes |
| title_short |
Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer |
| title_full |
Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer |
| title_fullStr |
Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer |
| title_full_unstemmed |
Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer |
| title_sort |
Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer |
| dc.creator.none.fl_str_mv |
Sahasrabudhe, Ruta Lott, Paul Bohorquez, Mabel Toal, Ted Estrada, Ana P. Suarez, John J. Brea Fernández, Alejandro Cameselle Teijeiro, José Pinto, Carla Ramos, Irma Mantilla, Alejandra Prieto, Rodrigo Corvalan, Alejandro Norero, Enrique Alvarez, Carolina Tapia, Teresa Carvallo, Pilar Gonzalez, Luz M. Cock-Rada, Alicia Solano, Angela Rosario Neffa, Florencia Della Valle, Adriana Yau, Chris Soares, Gabriela Borowsky, Alexander Hu, Nan He, Li-Ji Han, Xiao-You Taylor, Philip R. Goldstein, Alisa M. Torres, Javier Echeverry, Magdalena Ruiz-Ponte, Clara Teixeira, Manuel R. Carvajal Carmona, Luis G. |
| author |
Sahasrabudhe, Ruta |
| author_facet |
Sahasrabudhe, Ruta Lott, Paul Bohorquez, Mabel Toal, Ted Estrada, Ana P. Suarez, John J. Brea Fernández, Alejandro Cameselle Teijeiro, José Pinto, Carla Ramos, Irma Mantilla, Alejandra Prieto, Rodrigo Corvalan, Alejandro Norero, Enrique Alvarez, Carolina Tapia, Teresa Carvallo, Pilar Gonzalez, Luz M. Cock-Rada, Alicia Solano, Angela Rosario Neffa, Florencia Della Valle, Adriana Yau, Chris Soares, Gabriela Borowsky, Alexander Hu, Nan He, Li-Ji Han, Xiao-You Taylor, Philip R. Goldstein, Alisa M. Torres, Javier Echeverry, Magdalena Ruiz-Ponte, Clara Teixeira, Manuel R. Carvajal Carmona, Luis G. |
| author_role |
author |
| author2 |
Lott, Paul Bohorquez, Mabel Toal, Ted Estrada, Ana P. Suarez, John J. Brea Fernández, Alejandro Cameselle Teijeiro, José Pinto, Carla Ramos, Irma Mantilla, Alejandra Prieto, Rodrigo Corvalan, Alejandro Norero, Enrique Alvarez, Carolina Tapia, Teresa Carvallo, Pilar Gonzalez, Luz M. Cock-Rada, Alicia Solano, Angela Rosario Neffa, Florencia Della Valle, Adriana Yau, Chris Soares, Gabriela Borowsky, Alexander Hu, Nan He, Li-Ji Han, Xiao-You Taylor, Philip R. Goldstein, Alisa M. Torres, Javier Echeverry, Magdalena Ruiz-Ponte, Clara Teixeira, Manuel R. Carvajal Carmona, Luis G. |
| author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author |
| dc.subject.none.fl_str_mv |
Interaction Stomach Tumor Wes |
| topic |
Interaction Stomach Tumor Wes |
| purl_subject.fl_str_mv |
https://purl.org/becyt/ford/3.1 https://purl.org/becyt/ford/3 |
| dc.description.none.fl_txt_mv |
Up to 10% of cases of gastric cancer are familial, but so far, only mutations in CDH1 have been associated with gastric cancer risk. To identify genetic variants that affect risk for gastric cancer, we collected blood samples from 28 patients with hereditary diffuse gastric cancer (HDGC) not associated with mutations in CDH1 and performed whole-exome sequence analysis. We then analyzed sequences of candidate genes in 333 independent HDGC and non-HDGC cases. We identified 11 cases with mutations in PALB2, BRCA1, or RAD51C genes, which regulate homologous DNA recombination. We found these mutations in 2 of 31 patients with HDGC (6.5%) and 9 of 331 patients with sporadic gastric cancer (2.8%). Most of these mutations had been previously associated with other types of tumors and partially co-segregated with gastric cancer in our study. Tumors that developed in patients with these mutations had a mutation signature associated with somatic homologous recombination deficiency. Our findings indicate that defects in homologous recombination increase risk for gastric cancer. Fil: Sahasrabudhe, Ruta. University of California at Davis; Estados Unidos Fil: Lott, Paul. University of California at Davis; Estados Unidos Fil: Bohorquez, Mabel. Universidad del Tolima; Colombia Fil: Toal, Ted. University of California at Davis; Estados Unidos Fil: Estrada, Ana P.. Universidad del Tolima; Colombia Fil: Suarez, John J.. Universidad del Tolima; Colombia Fil: Brea Fernández, Alejandro. Ciber Enfermedades Raras; España Fil: Cameselle Teijeiro, José. Complejo Hospitalario Universitario de Santiago; España Fil: Pinto, Carla. Instituto Portugues de Oncologia de Francisco Gentil Porto; Portugal Fil: Ramos, Irma. Instituto Mexicano del Seguro Social; México Fil: Mantilla, Alejandra. Departamento de Patologia la Unidad Medica Alta Especialidad Oncologia; México Fil: Prieto, Rodrigo. Universidad del Tolima; Colombia Fil: Corvalan, Alejandro. Pontificia Universidad Católica de Chile; Chile Fil: Norero, Enrique. Pontificia Universidad Católica de Chile; Chile Fil: Alvarez, Carolina. Universidad Católica de Chile; Chile Fil: Tapia, Teresa. Pontificia Universidad Católica de Chile; Chile Fil: Carvallo, Pilar. Pontificia Universidad Católica de Chile; Chile Fil: Gonzalez, Luz M.. Instituto de Cancerologia, Las Americas; Colombia Fil: Cock-Rada, Alicia. Instituto de Cancerologia, Las Americas; Colombia Fil: Solano, Angela Rosario. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Centro de Educaciones Médicas e Investigación Clínica ; Argentina. Universidad de Buenos Aires; Argentina Fil: Neffa, Florencia. Laboratorio Genia; Uruguay Fil: Della Valle, Adriana. Laboratorio Genia; Uruguay Fil: Yau, Chris. University of Oxford; Reino Unido Fil: Soares, Gabriela. Centro Hospitalar Do Porto; Portugal Fil: Borowsky, Alexander. University of California at Davis; Estados Unidos Fil: Hu, Nan. National Cancer Institute; Estados Unidos Fil: He, Li-Ji. Yangcheng Cancer Hospital; China Fil: Han, Xiao-You. Shanxi Cancer Hospital; China Fil: Taylor, Philip R.. National Institutes of Health; Estados Unidos Fil: Goldstein, Alisa M.. National Institutes of Health; Estados Unidos Fil: Torres, Javier. Instituto Mexicano del Seguro Social; México Fil: Echeverry, Magdalena. Universidad del Tolima; Colombia Fil: Ruiz-Ponte, Clara. Centro de Investigación Biomédica en Red de Enfermedades Raras; España Fil: Teixeira, Manuel R.. Universidad de Porto; Portugal Fil: Carvajal Carmona, Luis G.. University of California at Davis; Estados Unidos |
| description |
Up to 10% of cases of gastric cancer are familial, but so far, only mutations in CDH1 have been associated with gastric cancer risk. To identify genetic variants that affect risk for gastric cancer, we collected blood samples from 28 patients with hereditary diffuse gastric cancer (HDGC) not associated with mutations in CDH1 and performed whole-exome sequence analysis. We then analyzed sequences of candidate genes in 333 independent HDGC and non-HDGC cases. We identified 11 cases with mutations in PALB2, BRCA1, or RAD51C genes, which regulate homologous DNA recombination. We found these mutations in 2 of 31 patients with HDGC (6.5%) and 9 of 331 patients with sporadic gastric cancer (2.8%). Most of these mutations had been previously associated with other types of tumors and partially co-segregated with gastric cancer in our study. Tumors that developed in patients with these mutations had a mutation signature associated with somatic homologous recombination deficiency. Our findings indicate that defects in homologous recombination increase risk for gastric cancer. |
| publishDate |
2017 |
| dc.date.none.fl_str_mv |
2017-04 |
| dc.type.none.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://purl.org/coar/resource_type/c_6501 info:ar-repo/semantics/articulo |
| format |
article |
| status_str |
publishedVersion |
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http://hdl.handle.net/11336/41447 Sahasrabudhe, Ruta; Lott, Paul; Bohorquez, Mabel; Toal, Ted; Estrada, Ana P.; et al.; Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer; W B Saunders Co-Elsevier Inc; Gastroenterology; 152; 5; 4-2017; 983-986 0016-5085 CONICET Digital CONICET |
| url |
http://hdl.handle.net/11336/41447 |
| identifier_str_mv |
Sahasrabudhe, Ruta; Lott, Paul; Bohorquez, Mabel; Toal, Ted; Estrada, Ana P.; et al.; Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer; W B Saunders Co-Elsevier Inc; Gastroenterology; 152; 5; 4-2017; 983-986 0016-5085 CONICET Digital CONICET |
| dc.language.none.fl_str_mv |
eng |
| language |
eng |
| dc.relation.none.fl_str_mv |
info:eu-repo/semantics/altIdentifier/doi/10.1053/j.gastro.2016.12.010 info:eu-repo/semantics/altIdentifier/url/http://www.gastrojournal.org/article/S0016-5085(16)35521-4/fulltext |
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info:eu-repo/semantics/openAccess https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ |
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openAccess |
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https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ |
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application/pdf application/pdf |
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W B Saunders Co-Elsevier Inc |
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W B Saunders Co-Elsevier Inc |
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reponame:CONICET Digital (CONICET) instname:Consejo Nacional de Investigaciones Científicas y Técnicas |
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CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas |
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dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar |
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