Homologous recombination deficiency tumor tissue testing in a real-world cohort of tubo-ovarian carcinoma patients: validation of decentralized genomic profiling in 4777 cases

High-grade tubo-ovarian carcinoma (HGOC) that exhibits homologous recombination deficiency (HRD) comprises almost half of these tumors and shows a greater response to platinum-based chemotherapies and a sensitivity to PARP inhibitors. Therefore, experts believe that tumor testing for HRD should be carried out at the time of primary diagnosis or disease recurrence, if not performed earlier. This study aimed to evaluate HRD in a large series of patients with HGOC via the centralized Myriad MyChoice CDx and the decentralized SOPHiA Genetics DDM HRD Solution assays in a real-world clinical practice in Spain. With the Myriad MyChoice CDx Plus assay, 502 (38%) of the 1322 tumor samples analyzed were categorized as HRD positive; overall, 198 (15%) cases were not informative. With the decentralized SOPHiA Genetics DDM HRD assay, 1876 (39%) of the 4777 tumor tissue samples analyzed were HRD positive; of the 4777 cases, 606 (13%) were non-informative. The HRD and mutational status results for all cases were reported to clinicians from participant laboratories in less than 21 working days using the SOPHiA Genetics DDM HRD assay. This study shows that a decentralized HRD test, such as the SOPHiA Genetics DDM HRD Solution assay, is a reliable and robust assay to provide therapeutic guidance for ovarian cancer patient management in clinical practice, with optimal performance in terms of an informative proportion of cases, positive HRD detection, and an adequate turnaround time.

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Journal
Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin
Published
2026-04-07
DOI
https://doi.org/10.1007/s00428-026-04476-4
Primary Topic
PARP inhibition in cancer therapy
Type
article
Field-Weighted Citation Impact
0.00

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article

Homologous recombination deficiency tumor tissue testing in a real-world cohort of tubo-ovarian carcinoma patients: validation of decentralized genomic profiling in 4777 cases

Pedro Perez-Segura, Alicia Gómez-Sanz, I. Abdulkader-Nallib, Mar Varela et al.
Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin
PARP inhibition in cancer therapy
article

Homologous recombination deficiency tumor tissue testing in a real-world cohort of tubo-ovarian carcinoma patients: validation of decentralized genomic profiling in 4777 cases

Pedro Perez-Segura, Alicia Gómez-Sanz, I. Abdulkader-Nallib, Mar Varela, Maria del Rosario Taco-Sánchez, C. Caballero, Nerea Carvajal, Víctor Lorca, Esther Roselló-Sastre, S. Torres-Martínez, Miguel de la Hoya, Carlos Camps, Raquel Pérez-Becerra, Núria Santonja-López, Sergi Villatoro, S. Pérez-Buira, Sandra Zazo, F. Rojo, Eloísa Jantus-Lewintre, Maribel González-Acosta, Tamara Pereira-Ares, Xavier Matias Guiu, Maria Colomar-Roig, Conxi Lazaro, María Sánchez-Ares
article en

Abstract

High-grade tubo-ovarian carcinoma (HGOC) that exhibits homologous recombination deficiency (HRD) comprises almost half of these tumors and shows a greater response to platinum-based chemotherapies and a sensitivity to PARP inhibitors. Therefore, experts believe that tumor testing for HRD should be carried out at the time of primary diagnosis or disease recurrence, if not performed earlier. This study aimed to evaluate HRD in a large series of patients with HGOC via the centralized Myriad MyChoice CDx and the decentralized SOPHiA Genetics DDM HRD Solution assays in a real-world clinical practice in Spain. With the Myriad MyChoice CDx Plus assay, 502 (38%) of the 1322 tumor samples analyzed were categorized as HRD positive; overall, 198 (15%) cases were not informative. With the decentralized SOPHiA Genetics DDM HRD assay, 1876 (39%) of the 4777 tumor tissue samples analyzed were HRD positive; of the 4777 cases, 606 (13%) were non-informative. The HRD and mutational status results for all cases were reported to clinicians from participant laboratories in less than 21 working days using the SOPHiA Genetics DDM HRD assay. This study shows that a decentralized HRD test, such as the SOPHiA Genetics DDM HRD Solution assay, is a reliable and robust assay to provide therapeutic guidance for ovarian cancer patient management in clinical practice, with optimal performance in terms of an informative proportion of cases, positive HRD detection, and an adequate turnaround time.

Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin
Universitat de Lleida (ES), Universitat de València (ES), Universidade de Santiago de Compostela (ES), Bellvitge University Hospital (ES), Hospital Universitari Arnau de Vilanova (ES), Institut d'Investigació Biomédica de Bellvitge (ES), Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (ES), Institut Català d'Oncologia (ES), Hospital General Universitario De Valencia (ES), Hospital Universitario Fundación Jiménez Díaz (ES), Fundación General (ES), Instituto de Investigación Sanitaria de Santiago (ES), Servicio Gallego de Salud (ES), Centro de Investigación Biomédica en Red de Cáncer (ES), Centro de Investigacion Principe Felipe (ES), Universitat Politècnica de València (ES)
AstraZeneca, Universitat de Lleida
Good health and well-being
Openalex Percentile: Top 28%
PARP inhibition in cancer therapy
DOIOpen Access PDFOpenAlex
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