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Peer-reviewedCC BY 4.0International Journal of Molecular Sciences

Multicenter Evaluation of Decentralized Homologous Recombination Deficiency Testing for Enhanced Molecular Diagnosis of Ovarian Cancer

  • Gardenia Vargas-Parra1,2
  • Marta Sesé2,3,4
  • Eva Hernández-Illán5,6
  • Laia Serrano1
  • Laura Camacho1
  • Rosa Somoza4
  • Vanessa López5
  • Cristina Teixido5,6,7
  • Pedro Jares2,5,6,7
  • Javier Hernández-Losa2,3,4
  • Beatriz Bellosillo1,2
7 affiliations
  1. 1Pathology Department, Hospital del Mar Research Institute, Barcelona 08003, Spain
  2. 2Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), ISCIII, Madrid 08028, Spain
  3. 3Pathology Department, Hospital Universitari Vall d’Hebron, Barcelona 08035, Spain
  4. 4Translational Molecular Pathology, Vall d’Hebron Institut de Recerca, Barcelona 08035, Spain
  5. 5Molecular Biology CORE, Hospital Clínic de Barcelona, Barcelona 08036, Spain
  6. 6Pathology Department, Hospital Clínic de Barcelona, Barcelona 08036, Spain
  7. 7August Pi i Sunyer Biomedical Research Institute (IDIBAPS), University of Barcelona, Barcelona 08036, Spain
Open at sourceDOICite

Abstract

Assessment of homologous recombination deficiency (HRD) and tumor BRCA1/2 mutation status in high-grade serous ovarian carcinoma (HGSOC) is clinically relevant for treatment decisions and for identifying tumors that may benefit from poly(adenosine diphosphate–ribose) polymerase inhibitors. The Myriad MyChoice® CDx HRD (M-HRD) assay is an established clinically validated HRD testing platform that is performed as a send-out test. We conducted a multicenter pilot study to assess the analytical feasibility and interlaboratory agreement of decentralized testing using the SOPHiA DDM™ Dx HRD Solution (SG-HRD). Three hospitals each contributed eight clinical HGSOC samples previously tested with M-HRD or with SG-HRD in a send-out platform. All centers independently prepared SG-HRD libraries and sequenced the complete set of 24 samples. Agreement with M-HRD was evaluated separately from comparisons with previous SG-HRD send-out results. Among specimens with interpretable M-HRD, overall percent agreement with local SG-HRD results was 95.0% (19/20), 90.0% (18/20), and 88.9% (16/18) at the three hospitals. BRCA1/2 variant calls were concordant with previous testing. Overall, the comparison with previous analyses by Myriad genetics or with previous SOPHiA GENETICS send-out results showed a high level of agreement, with discordances mainly observed in samples with values close to the classification threshold. The small, selected cohort, limited clinical replication, and absence of treatment-outcome assessment restrict precision estimates, generalizability, and conclusions regarding clinical validity. These findings support the analytical feasibility of decentralized SG-HRD testing, but larger studies are needed to characterize performance across a broader range of specimens and testing conditions.

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Cite

BibTeXRIS
BibTeX
@article{vargasparra2026multicenter,
  title = {{Multicenter Evaluation of Decentralized Homologous Recombination Deficiency Testing for Enhanced Molecular Diagnosis of Ovarian Cancer}},
  author = {Gardenia Vargas-Parra and Marta Sesé and Eva Hernández-Illán and Laia Serrano and Laura Camacho and Rosa Somoza and Vanessa López and Cristina Teixido and Pedro Jares and Javier Hernández-Losa and Beatriz Bellosillo},
  journal = {International Journal of Molecular Sciences},
  year = {2026},
  month = nov,
  doi = {10.3390/ijms272110028},
  url = {https://www.mdpi.com/1422-0067/27/21/10028},
  note = {CC BY 4.0},
}
RIS
TY  - JOUR
TI  - Multicenter Evaluation of Decentralized Homologous Recombination Deficiency Testing for Enhanced Molecular Diagnosis of Ovarian Cancer
AU  - Gardenia Vargas-Parra
AU  - Marta Sesé
AU  - Eva Hernández-Illán
AU  - Laia Serrano
AU  - Laura Camacho
AU  - Rosa Somoza
AU  - Vanessa López
AU  - Cristina Teixido
AU  - Pedro Jares
AU  - Javier Hernández-Losa
AU  - Beatriz Bellosillo
PY  - 2026
DA  - 2026/11/09
JO  - International Journal of Molecular Sciences
DO  - 10.3390/ijms272110028
UR  - https://www.mdpi.com/1422-0067/27/21/10028
AB  - Assessment of homologous recombination deficiency (HRD) and tumor BRCA1/2 mutation status in high-grade serous ovarian carcinoma (HGSOC) is clinically relevant for treatment decisions and for identifying tumors that may benefit from poly(adenosine diphosphate–ribose) polymerase inhibitors. The Myriad MyChoice® CDx HRD (M-HRD) assay is an established clinically validated HRD testing platform that is performed as a send-out test. We conducted a multicenter pilot study to assess the analytical feasibility and interlaboratory agreement of decentralized testing using the SOPHiA DDM™ Dx HRD Solution (SG-HRD). Three hospitals each contributed eight clinical HGSOC samples previously tested with M-HRD or with SG-HRD in a send-out platform. All centers independently prepared SG-HRD libraries and sequenced the complete set of 24 samples. Agreement with M-HRD was evaluated separately from comparisons with previous SG-HRD send-out results. Among specimens with interpretable M-HRD, overall percent agreement with local SG-HRD results was 95.0% (19/20), 90.0% (18/20), and 88.9% (16/18) at the three hospitals. BRCA1/2 variant calls were concordant with previous testing. Overall, the comparison with previous analyses by Myriad genetics or with previous SOPHiA GENETICS send-out results showed a high level of agreement, with discordances mainly observed in samples with values close to the classification threshold. The small, selected cohort, limited clinical replication, and absence of treatment-outcome assessment restrict precision estimates, generalizability, and conclusions regarding clinical validity. These findings support the analytical feasibility of decentralized SG-HRD testing, but larger studies are needed to characterize performance across a broader range of specimens and testing conditions.
SN  - 1422-0067
ER  -