Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.
Sandra BonacheIrene EstebanAlejandro Moles-FernándezAnna TenésLaura Duran-LozanoGemma MontalbanVanessa BachEstela CarrascoNeus GadeaAdrià López-FernándezSara Torres-EsquiusFrancesco MancusoGinevra CaratúAna VivancosNoemí TusetJudith BalmañaSara Gutiérrez-EnríquezOrland DiezPublished in: Journal of cancer research and clinical oncology (2018)
Eight percent of the BRCA1/2 negative patients carry pathogenic variants in other actionable genes. The multigene panel usage improves the diagnostic yield in HBOC testing and it is an effective tool to identify potentially new candidate genes.