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ORIGINAL RESEARCH article

Front. Mol. Biosci.
Sec. Molecular Diagnostics and Therapeutics
Volume 12 - 2025 | doi: 10.3389/fmolb.2025.1524594
This article is part of the Research Topic Molecular Studies and Therapeutic Approaches on BRCA-associated Cancers View all 3 articles

Homologous Recombination Deficiency (HRD) Test Validation for Patients with High-Grade Advanced Ovarian Cancer

Provisionally accepted
Angelica Nogueira Rodrigues Angelica Nogueira Rodrigues Andreza Karine de Barros Almeida Souto Andreza Karine de Barros Almeida Souto Diocésio Alves Pinto de Andrade Diocésio Alves Pinto de Andrade Larissa Müller Gomes Larissa Müller Gomes Sandra Satie Koide Sandra Satie Koide Renata de Godoy e Silva Renata de Godoy e Silva Bruno Batista de Souza Bruno Batista de Souza Juliana Doblas Massaro Juliana Doblas Massaro Andréia Cristina de Melo Andréia Cristina de Melo Andrea Morais Borges Andrea Morais Borges Camila Giro Camila Giro Carlos Augusto Vasconcelos de Andrade Carlos Augusto Vasconcelos de Andrade Cesar Martins da Costa Cesar Martins da Costa Daniel Luiz Gimenes Daniel Luiz Gimenes Eduardo Caminha Bandeira de Mello Eduardo Caminha Bandeira de Mello Fernanda Cesar de Oliveira Fernanda Cesar de Oliveira Frederico Müller de Toledo Lima Frederico Müller de Toledo Lima Gabriel Lima Lopes Gabriel Lima Lopes Gustavo de Oliveira Bretas Gustavo de Oliveira Bretas Gustavo Guerra Jacob Gustavo Guerra Jacob Herika Lucia da Costa Silva Herika Lucia da Costa Silva Juliana Ferrari Notaro Juliana Ferrari Notaro Lara Ladislau Alves Lara Ladislau Alves Marcos Veloso Moitinho Marcos Veloso Moitinho Mirian Cristina da Silva Mirian Cristina da Silva Roberto Abramoff Roberto Abramoff Thais Amaral da Cunha Rauber Thais Amaral da Cunha Rauber Rodrigo Dienstmann Rodrigo Dienstmann Fernanda Christtanini Koyama Fernanda Christtanini Koyama *
  • Oncoclinicas Group, São Paulo, Brazil

The final, formatted version of the article will be published soon.

    demonstrated high concordance in HRD status with reference test (Kappa 0.8, 95% CI 0.60-0.98). Overall accuracy, sensitivity and specificity were 90%. Six samples had BRCA1/2 mutations in myChoice ® HRD Plus CDx, all detected by GS Focus HRD test.In summary, the results demonstrate substantial agreement and high accuracy of NGS-based GS Focus HRD test as compared to myChoice ® HRD Plus CDx.Our in-house assay is eligible for diagnostic test approval and market access as per Brazilian regulations.

    Keywords: ovarian cancer, homologous recombination deficiency (HRD), BRCA1/2, Validation, NGS

    Received: 07 Nov 2024; Accepted: 07 Jan 2025.

    Copyright: © 2025 Rodrigues, Souto, de Andrade, Gomes, Koide, e Silva, de Souza, Massaro, de Melo, Borges, Giro, de Andrade, da Costa, Gimenes, de Mello, de Oliveira, Lima, Lopes, Bretas, Jacob, Silva, Notaro, Alves, Moitinho, da Silva, Abramoff, Rauber, Dienstmann and Koyama. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Fernanda Christtanini Koyama, Oncoclinicas Group, São Paulo, Brazil

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