Somatic BRCA1 and BRCA2 detection in homologous recombination deficiency testing: concordance of four…

StudyInternational journal of gynecological cancer : official journal of the International Gynecological Cancer Society· Jun 2026

Somatic BRCA1 and BRCA2 detection in homologous recombination deficiency testing: concordance of four sequencing workflows with the Myriad myChoice companion diagnostic.

Giovanni Luca Scaglione, Cristin Roma, Daniela Califano … Sandro Pignata

Read paper

Molecular Genetic PathologyStudyDiagnosisQ1IF 3.5

Four tumor BRCA1/BRCA2 sequencing platforms showed moderate concordance with the reference assay.

Somatic BRCA1 and BRCA2 detection in homologous recombination deficiency testing: concordance of four sequencing workflows with the Myriad myChoice companion diagnostic.

Giovanni Luca Scaglione … Sandro Pignata

International journal of gynecological cancer · Jun 2026

Purpose

To assess concordance of tumor BRCA1/BRCA2 variant detection across four sequencing workflows benchmarked against the Myriad myChoice companion diagnostic in newly diagnosed ovarian cancer.

Methods

Within the MITO16A/MaNGO-OV2 trial, 100 formalin-fixed paraffin-embedded ovarian cancer samples were analyzed across four workflows in the Italian network: one academic modular workflow (Agilent OneSeq/VarDict) and three commercial platforms (Oncomine Comprehensive Assay Plus/Ion Reporter, SOPHiA DDM, and TruSight Oncology 500/DRAGEN).

n = 98 samples

Results

workflows agreed completely in most tumors, but discordances remained common enough to matter

Concordant

87.8%

Discordant

12.2%

More results

Two samples failed myChoice testing and were excluded, leaving 98 evaluable cases.

More results

The 12 discordant cases (12.2%) fell into four recurrent categories: limited detection of exon-level copy number alterations, low-frequency variants in formalin-fixed paraffin-embedded specimens, differences in reporting of variants of uncertain significance, and transcript or nomenclature inconsistencies.

“

Conclusion · 1 of 2

Tumor BRCA1/BRCA2 results showed moderate cross-platform concordance, with clinically relevant discordances driven mainly by technical and interpretive factors.

Conclusion · 2 of 2

Greater standardization of tumor BRCA1/BRCA2 testing is needed to support consistent reporting, treatment decisions, and referral for hereditary cancer assessment.

Somatic BRCA1 and BRCA2 detection in homologous recombination deficiency testing: concordance of four sequencing workflows with the Myriad myChoice companion diagnostic.

Somatic BRCA1 and BRCA2 detection in homologous recombination deficiency testing: concordance of four sequencing workflows with the Myriad myChoice companion diagnostic.

Related papers