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)

Palacios-Calvo, J.; de la Hoya, M.; Bellosillo Paricio, Beatriz; de Juan, I.; Matias-Guiu, Xavier; Lázaro García, Conxi; Palanca, S.; Osorio, A.; Rojo, Federico; Rosa-Rosa, J.M.; Cigudosa, Juan C.

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

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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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

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.