Mutational screening of BRCA1/2 genes as a predictive factor for therapeutic response in epithelial ovarian cancer: a consensus guide from the Spanish Society of Pathology (SEAP-IAP) and the Spanish Society of Human Genetics (AEGH)

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  • dc.contributor.author Palacios-Calvo, J.
  • dc.contributor.author de la Hoya, M.
  • dc.contributor.author Bellosillo Paricio, Beatriz
  • dc.contributor.author de Juan, I.
  • dc.contributor.author Matias-Guiu, Xavier
  • dc.contributor.author Lázaro García, Conxi
  • dc.contributor.author Palanca, S.
  • dc.contributor.author Osorio, A.
  • dc.contributor.author Rojo, Federico
  • dc.contributor.author Rosa-Rosa, J.M.
  • dc.contributor.author Cigudosa, Juan C.
  • dc.date.accessioned 2021-03-17T08:00:40Z
  • dc.date.available 2021-03-17T08:00:40Z
  • dc.date.issued 2020
  • dc.description.abstract Germline/somatic BRCA-mutated ovarian carcinomas (OC) are associated to have better response with platinum-based chemotherapy and long-term prognosis than non-BRCA-associated OCs. In addition, these mutations are predictive factors to response to Poly(ADP-ribose) polymerase (PARP) inhibitors. Different positioning papers have addressed the clinical recommendations for BRCA testing in OC. This consensus guide represents a collection of technical recommendations to address the detection of BRCA1/2 mutations in the molecular diagnostic testing strategy for OC. Under the coordination of Spanish Society of Pathology (SEAP-IAP) and the Spanish Society of Human Genetics (AEGH), these recommendations have been developed by pathologists and geneticists taking into account previously published recommendations and their experience in the molecular characterization of these genes. Since the implementation of BRCA testing as a predictive factor can initiate the workflow by testing germline mutations in the blood or by testing both germline and somatic mutations in tumor tissue, distinctive features of both strategies are discussed. Additionally, the recommendations included in this paper provide some references, quality parameters, and genomic tools aimed to standardize and facilitate the clinical genomic diagnosis of OC.
  • dc.format.mimetype application/pdf
  • dc.identifier.citation Palacios J, de la Hoya M, Bellosillo B, de Juan I, Matías-Guiu X, Lázaro C, et al. Mutational screening of BRCA1/2 genes as a predictive factor for therapeutic response in epithelial ovarian cancer: a consensus guide from the Spanish Society of Pathology (SEAP-IAP) and the Spanish Society of Human Genetics (AEGH). Virchows Arch. 2020 Feb; 476(2): 195-207. DOI: 10.1007/s00428-019-02709-3
  • dc.identifier.doi http://dx.doi.org/10.1007/s00428-019-02709-3
  • dc.identifier.issn 0945-6317
  • dc.identifier.uri http://hdl.handle.net/10230/46800
  • dc.language.iso eng
  • dc.publisher SpringerOpen
  • dc.rights Copyright © The Author(s) 2019. Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
  • dc.rights.accessRights info:eu-repo/semantics/openAccess
  • dc.rights.uri http://creativecommons.org/licenses/by/4.0/
  • dc.subject.keyword BRCA
  • dc.subject.keyword Next-generation sequencing (NGS)
  • dc.subject.keyword Ovarian cancer (OC)
  • dc.title Mutational screening of BRCA1/2 genes as a predictive factor for therapeutic response in epithelial ovarian cancer: a consensus guide from the Spanish Society of Pathology (SEAP-IAP) and the Spanish Society of Human Genetics (AEGH)
  • dc.type info:eu-repo/semantics/article
  • dc.type.version info:eu-repo/semantics/publishedVersion

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