Mutational Screening of BRCA1/2 Genes as a Predictive Factor for Therapeutic Response in Epithelial Ovarian Cancer: A Consensus Guide from ... View Full Text


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Article Info

DATE

2019-12-03

AUTHORS

J. Palacios, M. de la Hoya, B. Bellosillo, I. de Juan, X. Matías-Guiu, C. Lázaro, S. Palanca, A. Osorio, F. Rojo, J.M. Rosa-Rosa, J.C. Cigudosa

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. More... »

PAGES

195-207

References to SciGraph publications

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  • 2016-05-17. Coming of age: ten years of next-generation sequencing technologies in NATURE REVIEWS GENETICS
  • 2018-10-24. Candidate biomarkers of PARP inhibitor sensitivity in ovarian cancer beyond the BRCA genes in BRITISH JOURNAL OF CANCER
  • 2012-12-19. Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2011-01-04. Opening the archives for state of the art tumour genetic research: sample processing for array-CGH using decalcified, formalin-fixed, paraffin-embedded tissue-derived DNA samples in BMC RESEARCH NOTES
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  • 2012-12-15. KRAS mutation analysis on low percentage of colon cancer cells: the importance of quality assurance in VIRCHOWS ARCHIV
  • 2011-06-29. Integrated genomic analyses of ovarian carcinoma in NATURE
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s00428-019-02709-3

    DOI

    http://dx.doi.org/10.1007/s00428-019-02709-3

    DIMENSIONS

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    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/31797087


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