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Evaluate the mutational spectrum and prognostic relevance of germline and somatic variants in de novo metastatic breast cancer.

Abstract PS4-02-18: Detection of germline and somatic pathogenic variants in patients with de novo metastatic breast cancer (dnMBC) and assessment of their prognostic relevance: A Hellenic Cooperative Oncology Group (HeCOG) translational cohort study

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Evaluate the mutational spectrum and prognostic relevance of germline and somatic variants in de novo metastatic breast cancer.
Utilized next generation sequencing on tumor and blood samples from patients with de novo metastatic breast cancer.
Classified variants according to Clinvar and ACMG/AMP criteria.
Applied Cox proportional-hazards regression models to assess prognostic relevance.
65.1% of tumors harbored at least one pathogenic variant, primarily in PIK3CA and TP53.
No standard clinicopathological parameters reached significance for overall survival.
High prevalence of actionable alterations emphasizes biological heterogeneity in de novo metastatic breast cancer.

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Translational cohort study evaluates prognostic impact of genomic variants in de novo metastatic breast cancer, suggesting need for novel biomarkers.

Fountzilas et al. (2026) studied this question.

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Translational cohort study evaluates prognostic impact of genomic variants in de novo metastatic breast cancer, suggesting need for novel biomarkers.