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dc.creatorSahasrabudhe, Ruta-
dc.creatorLott, Paul-
dc.creatorBohorquez, Mabel-
dc.creatorToal, Ted-
dc.creatorEstrada, Ana P.-
dc.creatorSuarez, John J.-
dc.creatorBrea Fernández, Alejandro-
dc.creatorCameselle Teijeiro, José-
dc.creatorPinto, Carla-
dc.creatorRamos, Irma-
dc.creatorMantilla, Alejandra-
dc.creatorPrieto, Rodrigo-
dc.creatorCorvalan, Alejandro-
dc.creatorNorero, Enrique-
dc.creatorAlvarez, Carolina-
dc.creatorTapia, Teresa-
dc.creatorCarvallo, Pilar-
dc.creatorGonzalez, Luz M.-
dc.creatorCock-Rada, Alicia-
dc.creatorSolano, Angela Rosario-
dc.creatorNeffa, Florencia-
dc.creatorDella Valle, Adriana-
dc.creatorYau, Chris-
dc.creatorSoares, Gabriela-
dc.creatorBorowsky, Alexander-
dc.creatorHu, Nan-
dc.creatorHe, Li-Ji-
dc.creatorHan, Xiao-You-
dc.creatorTaylor, Philip R.-
dc.creatorGoldstein, Alisa M.-
dc.creatorTorres, Javier-
dc.creatorEcheverry, Magdalena-
dc.creatorRuiz-Ponte, Clara-
dc.creatorTeixeira, Manuel R.-
dc.creatorCarvajal Carmona, Luis G.-
dc.date2018-04-09T21:44:42Z-
dc.date2018-04-09T21:44:42Z-
dc.date2017-04-
dc.date2018-03-15T14:13:15Z-
dc.date.accessioned2019-04-29T15:29:52Z-
dc.date.available2019-04-29T15:29:52Z-
dc.date.issued2018-04-09T21:44:42Z-
dc.date.issued2018-04-09T21:44:42Z-
dc.date.issued2017-04-
dc.date.issued2018-03-15T14:13:15Z-
dc.identifierSahasrabudhe, 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-
dc.identifier0016-5085-
dc.identifierhttp://hdl.handle.net/11336/41447-
dc.identifierCONICET Digital-
dc.identifierCONICET-
dc.identifier.urihttp://rodna.bn.gov.ar:8080/jspui/handle/bnmm/295204-
dc.descriptionUp 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.-
dc.descriptionFil: Sahasrabudhe, Ruta. University of California at Davis; Estados Unidos-
dc.descriptionFil: Lott, Paul. University of California at Davis; Estados Unidos-
dc.descriptionFil: Bohorquez, Mabel. Universidad del Tolima; Colombia-
dc.descriptionFil: Toal, Ted. University of California at Davis; Estados Unidos-
dc.descriptionFil: Estrada, Ana P.. Universidad del Tolima; Colombia-
dc.descriptionFil: Suarez, John J.. Universidad del Tolima; Colombia-
dc.descriptionFil: Brea Fernández, Alejandro. Ciber Enfermedades Raras; España-
dc.descriptionFil: Cameselle Teijeiro, José. Complejo Hospitalario Universitario de Santiago; España-
dc.descriptionFil: Pinto, Carla. Instituto Portugues de Oncologia de Francisco Gentil Porto; Portugal-
dc.descriptionFil: Ramos, Irma. Instituto Mexicano del Seguro Social; México-
dc.descriptionFil: Mantilla, Alejandra. Departamento de Patologia la Unidad Medica Alta Especialidad Oncologia; México-
dc.descriptionFil: Prieto, Rodrigo. Universidad del Tolima; Colombia-
dc.descriptionFil: Corvalan, Alejandro. Pontificia Universidad Católica de Chile; Chile-
dc.descriptionFil: Norero, Enrique. Pontificia Universidad Católica de Chile; Chile-
dc.descriptionFil: Alvarez, Carolina. Universidad Católica de Chile; Chile-
dc.descriptionFil: Tapia, Teresa. Pontificia Universidad Católica de Chile; Chile-
dc.descriptionFil: Carvallo, Pilar. Pontificia Universidad Católica de Chile; Chile-
dc.descriptionFil: Gonzalez, Luz M.. Instituto de Cancerologia, Las Americas; Colombia-
dc.descriptionFil: Cock-Rada, Alicia. Instituto de Cancerologia, Las Americas; Colombia-
dc.descriptionFil: Solano, Angela Rosario. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Centro de Educaciones Médicas e Investigación Clínica ; Argentina. Universidad de Buenos Aires; Argentina-
dc.descriptionFil: Neffa, Florencia. Laboratorio Genia; Uruguay-
dc.descriptionFil: Della Valle, Adriana. Laboratorio Genia; Uruguay-
dc.descriptionFil: Yau, Chris. University of Oxford; Reino Unido-
dc.descriptionFil: Soares, Gabriela. Centro Hospitalar Do Porto; Portugal-
dc.descriptionFil: Borowsky, Alexander. University of California at Davis; Estados Unidos-
dc.descriptionFil: Hu, Nan. National Cancer Institute; Estados Unidos-
dc.descriptionFil: He, Li-Ji. Yangcheng Cancer Hospital; China-
dc.descriptionFil: Han, Xiao-You. Shanxi Cancer Hospital; China-
dc.descriptionFil: Taylor, Philip R.. National Institutes of Health; Estados Unidos-
dc.descriptionFil: Goldstein, Alisa M.. National Institutes of Health; Estados Unidos-
dc.descriptionFil: Torres, Javier. Instituto Mexicano del Seguro Social; México-
dc.descriptionFil: Echeverry, Magdalena. Universidad del Tolima; Colombia-
dc.descriptionFil: Ruiz-Ponte, Clara. Centro de Investigación Biomédica en Red de Enfermedades Raras; España-
dc.descriptionFil: Teixeira, Manuel R.. Universidad de Porto; Portugal-
dc.descriptionFil: Carvajal Carmona, Luis G.. University of California at Davis; Estados Unidos-
dc.formatapplication/pdf-
dc.formatapplication/pdf-
dc.languageeng-
dc.publisherW B Saunders Co-Elsevier Inc-
dc.relationinfo:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1053/j.gastro.2016.12.010-
dc.relationinfo:eu-repo/semantics/altIdentifier/url/http://www.gastrojournal.org/article/S0016-5085(16)35521-4/fulltext-
dc.rightsinfo:eu-repo/semantics/restrictedAccess-
dc.rightshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/-
dc.sourcereponame:CONICET Digital (CONICET)-
dc.sourceinstname:Consejo Nacional de Investigaciones Científicas y Técnicas-
dc.sourceinstacron:CONICET-
dc.subjectINTERACTION-
dc.subjectSTOMACH-
dc.subjectTUMOR-
dc.subjectWES-
dc.subjectInmunología-
dc.subjectMedicina Básica-
dc.subjectCIENCIAS MÉDICAS Y DE LA SALUD-
dc.titleGermline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer-
dc.typeinfo:eu-repo/semantics/article-
dc.typeinfo:eu-repo/semantics/publishedVersion-
dc.typeinfo:ar-repo/semantics/articulo-
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