Comprehensive analysis of germline variants in mexican patients with hereditary breast and ovarian cancer susceptibility

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dc.contributor.authorQuezada Urban, Rosalía
dc.contributor.authorDíaz Velásquez, Clara Estela
dc.contributor.authorGitler, Rina
dc.contributor.authorRojo Castillo, María Patricia
dc.contributor.authorSirota Toporek, Max
dc.contributor.authorFigueroa Morales, Andrea
dc.contributor.authorMoreno García, Oscar
dc.contributor.authorGarcía Esquivel, Lizbeth
dc.contributor.authorTorres Mejía, Gabriela
dc.contributor.authorDean, Michael
dc.contributor.authorDelgado Enciso, Iván
dc.contributor.authorRodríguez León, Fernando
dc.contributor.authorJan, Virginia
dc.contributor.authorGarzón Barrientos, Víctor Hugo
dc.contributor.authorRuiz Flores, Pablo
dc.contributor.authorEspino Silva, Perla Karina Espino
dc.contributor.authorSanta Cruz, Jorge Haro
dc.contributor.authorMartínez Gregorio, Héctor
dc.contributor.authorRojas Jiménez, Ernesto Arturo
dc.contributor.authorRomero Cruz, Luis Enrique
dc.contributor.authorMéndez Catalá, Claudia Fabiola
dc.contributor.authorÁlvarez Gómez, Rosa María
dc.contributor.authorFragoso Ontiveros, Verónica
dc.contributor.authorAlonso Herrera, Luis
dc.contributor.authorRomieu, Isabelle
dc.contributor.authorTerrazas, Luis Ignacio
dc.contributor.authorIrasema Chirino, Yolanda
dc.contributor.authorFrecha, Cecilia
dc.contributor.authorOliver, Javier
dc.contributor.authorVaca Paniagua, Felipe
dc.contributor.authorOchoa Díaz López, Héctor
dc.contributor.authorPerdomo Lara, Sandra Janneth
dc.contributor.orcidPerdomo Lara, Sandra Janneth [0000-0002-4429-3760]
dc.date.accessioned2019-08-02T15:23:11Z
dc.date.available2019-08-02T15:23:11Z
dc.date.issued2018
dc.description.abstractenglishHereditary breast and ovarian cancer syndrome (HBOC) represents 5–10% of all patients with breast cancer and is associated with high-risk pathogenic alleles in BRCA1/2 genes, but only for 25% of cases. We aimed to find new pathogenic alleles in a panel of 143 cancer-predisposing genes in 300 Mexican cancer patients with suspicion of HBOC and 27 high-risk patients with a severe family history of cancer, using massive parallel sequencing. We found pathogenic variants in 23 genes, including BRCA1/2. In the group of cancer patients 15% (46/300) had a pathogenic variant; 11% (33/300) harbored variants with unknown clinical significance (VUS) and 74% (221/300) were negative. The high-risk group had 22% (6/27) of patients with pathogenic variants, 4% (1/27) had VUS and 74% (20/27) were negative. The most recurrent mutations were the Mexican founder deletion of exons 9-12 and the variant p.G228fs in BRCA1, each found in 5 of 17 patients with alterations in this gene. Rare VUS with potential impact at the protein level were found in 21 genes. Our results show for the first time in the Mexican population a higher contribution of pathogenic alleles in other susceptibility cancer genes (54%) than in BRCA1/2 (46%), highlighting the high locus heterogeneity of HBOC and the necessity of expanding genetic tests for this disease to include broader gene panels. View Full-Texteng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.3390/cancers10100361
dc.identifier.instnameinstname:Universidad El Bosquespa
dc.identifier.issn2072-6694
dc.identifier.reponamereponame:Repositorio Institucional Universidad El Bosquespa
dc.identifier.repourlrepourl:https://repositorio.unbosque.edu.co
dc.identifier.urihttps://hdl.handle.net/20.500.12495/1585
dc.language.isoeng
dc.publisherMDPIspa
dc.publisher.journalCancersspa
dc.relation.ispartofseriesCancers, 2072-6694, Vol. 10, Num. 10, 2018, p1-19spa
dc.relation.urihttps://www.mdpi.com/2072-6694/10/10/361
dc.rightsAttribution 4.0 International*
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess
dc.rights.accessrightshttps://purl.org/coar/access_right/c_abf386
dc.rights.creativecommons2018
dc.rights.localAcceso abiertospa
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/*
dc.subject.decsNeoplasias de la mamaspa
dc.subject.decsNeoplasias ováricasspa
dc.subject.decsSíndromes neoplásicos hereditariosspa
dc.subject.keywordsGenetic screeningspa
dc.subject.keywordsHereditary breast cancerspa
dc.subject.keywordsMassive parallel sequencingspa
dc.titleComprehensive analysis of germline variants in mexican patients with hereditary breast and ovarian cancer susceptibilityspa
dc.typearticlespa
dc.type.hasversioninfo:eu-repo/semantics/publishedVersion
dc.type.localartículospa

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